Incidental Mutation 'R1470:Lrba'
| ID |
165775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrba
|
| Ensembl Gene |
ENSMUSG00000028080 |
| Gene Name |
LPS-responsive beige-like anchor |
| Synonyms |
Lba, D3Ertd775e |
| MMRRC Submission |
039523-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1470 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
86131987-86689999 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86644449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 381
(H381Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107635]
[ENSMUST00000192145]
[ENSMUST00000194759]
[ENSMUST00000195524]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107635
AA Change: H2477Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103261
Gene: ENSMUSG00000028080
AA Change: H2477Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
31 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
211 |
377 |
4.6e-13 |
PFAM |
|
Pfam:DUF4704
|
446 |
717 |
2.5e-109 |
PFAM |
|
coiled coil region
|
1019 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1089 |
N/A |
INTRINSIC |
|
low complexity region
|
1100 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1600 |
N/A |
INTRINSIC |
|
low complexity region
|
1614 |
1630 |
N/A |
INTRINSIC |
|
low complexity region
|
1698 |
1713 |
N/A |
INTRINSIC |
|
low complexity region
|
1738 |
1757 |
N/A |
INTRINSIC |
|
low complexity region
|
1848 |
1861 |
N/A |
INTRINSIC |
|
Pfam:DUF1088
|
1882 |
2049 |
7e-88 |
PFAM |
|
Pfam:PH_BEACH
|
2075 |
2172 |
9.1e-31 |
PFAM |
|
Beach
|
2203 |
2480 |
2.87e-207 |
SMART |
|
WD40
|
2578 |
2615 |
7.4e0 |
SMART |
|
WD40
|
2618 |
2661 |
1.72e0 |
SMART |
|
WD40
|
2677 |
2716 |
3.99e-1 |
SMART |
|
WD40
|
2760 |
2798 |
1.79e-1 |
SMART |
|
WD40
|
2801 |
2840 |
4.28e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192145
AA Change: H2477Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142179
Gene: ENSMUSG00000028080
AA Change: H2477Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
31 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
205 |
377 |
7.4e-18 |
PFAM |
|
coiled coil region
|
1019 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1089 |
N/A |
INTRINSIC |
|
low complexity region
|
1100 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1600 |
N/A |
INTRINSIC |
|
low complexity region
|
1614 |
1630 |
N/A |
INTRINSIC |
|
low complexity region
|
1698 |
1713 |
N/A |
INTRINSIC |
|
low complexity region
|
1738 |
1757 |
N/A |
INTRINSIC |
|
low complexity region
|
1848 |
1861 |
N/A |
INTRINSIC |
|
Pfam:DUF1088
|
1882 |
2050 |
1.5e-92 |
PFAM |
|
Pfam:PH_BEACH
|
2068 |
2172 |
7.5e-32 |
PFAM |
|
Beach
|
2203 |
2480 |
2.87e-207 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194759
AA Change: H2477Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142043
Gene: ENSMUSG00000028080
AA Change: H2477Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
31 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
205 |
377 |
8.1e-18 |
PFAM |
|
coiled coil region
|
1019 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1089 |
N/A |
INTRINSIC |
|
low complexity region
|
1100 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1600 |
N/A |
INTRINSIC |
|
low complexity region
|
1614 |
1630 |
N/A |
INTRINSIC |
|
low complexity region
|
1698 |
1713 |
N/A |
INTRINSIC |
|
low complexity region
|
1738 |
1757 |
N/A |
INTRINSIC |
|
low complexity region
|
1848 |
1861 |
N/A |
INTRINSIC |
|
Pfam:DUF1088
|
1882 |
2050 |
1.6e-92 |
PFAM |
|
Pfam:PH_BEACH
|
2068 |
2172 |
8.3e-32 |
PFAM |
|
Beach
|
2203 |
2480 |
2.87e-207 |
SMART |
|
WD40
|
2578 |
2615 |
7.4e0 |
SMART |
|
WD40
|
2618 |
2661 |
1.72e0 |
SMART |
|
WD40
|
2677 |
2716 |
3.99e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195524
AA Change: H381Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141734
Gene: ENSMUSG00000028080
AA Change: H381Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH_BEACH
|
3 |
76 |
3.6e-20 |
PFAM |
|
Beach
|
107 |
384 |
2.87e-207 |
SMART |
|
WD40
|
482 |
519 |
7.4e0 |
SMART |
|
WD40
|
522 |
565 |
1.72e0 |
SMART |
|
WD40
|
581 |
620 |
3.99e-1 |
SMART |
|
WD40
|
664 |
702 |
1.79e-1 |
SMART |
|
WD40
|
705 |
744 |
4.28e0 |
SMART |
|
| Meta Mutation Damage Score |
0.8577 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.4%
- 10x: 90.6%
- 20x: 68.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased numbers of myeloid-derived suppressor cells and regulatory T cells, abnormal NK cell physiology, impaired rejection of allogeneic, xenogeneic and missing self bone-marrow grafts, and resistance to acute graft vs host disease. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 123 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,944,337 (GRCm39) |
S749T |
unknown |
Het |
| Abcb4 |
A |
T |
5: 8,990,968 (GRCm39) |
I843F |
probably damaging |
Het |
| Actr8 |
T |
A |
14: 29,708,926 (GRCm39) |
H244Q |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,530,417 (GRCm39) |
Y5886H |
probably benign |
Het |
| Agk |
T |
A |
6: 40,363,751 (GRCm39) |
W244R |
probably damaging |
Het |
| Ankrd11 |
C |
A |
8: 123,626,463 (GRCm39) |
V161L |
probably damaging |
Het |
| Arap3 |
T |
C |
18: 38,122,249 (GRCm39) |
|
probably null |
Het |
| Armc3 |
A |
G |
2: 19,243,547 (GRCm39) |
M88V |
probably benign |
Het |
| Atp13a5 |
G |
T |
16: 29,167,833 (GRCm39) |
P109T |
probably benign |
Het |
| Avpr1b |
T |
A |
1: 131,528,323 (GRCm39) |
V282D |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,808,890 (GRCm39) |
K120E |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,052,480 (GRCm39) |
M3060T |
probably benign |
Het |
| Cacng6 |
G |
A |
7: 3,473,404 (GRCm39) |
C76Y |
probably damaging |
Het |
| Cactin |
G |
T |
10: 81,158,985 (GRCm39) |
E279* |
probably null |
Het |
| Car9 |
A |
G |
4: 43,510,222 (GRCm39) |
Y268C |
probably damaging |
Het |
| Ccdc146 |
T |
A |
5: 21,524,564 (GRCm39) |
I263F |
probably damaging |
Het |
| Cdh16 |
T |
G |
8: 105,345,003 (GRCm39) |
S429R |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,832,995 (GRCm39) |
E1639G |
probably damaging |
Het |
| Ces1d |
A |
T |
8: 93,921,649 (GRCm39) |
V38D |
possibly damaging |
Het |
| Chd1 |
A |
T |
17: 15,946,545 (GRCm39) |
Q97L |
possibly damaging |
Het |
| Ciita |
G |
A |
16: 10,332,332 (GRCm39) |
D898N |
possibly damaging |
Het |
| Clstn1 |
A |
G |
4: 149,719,179 (GRCm39) |
N336S |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,187,249 (GRCm39) |
D607G |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,636,753 (GRCm39) |
H245Y |
probably benign |
Het |
| Coq8b |
A |
T |
7: 26,951,734 (GRCm39) |
T399S |
probably benign |
Het |
| Cpn2 |
A |
G |
16: 30,079,003 (GRCm39) |
S233P |
probably benign |
Het |
| Cryz |
G |
A |
3: 154,312,113 (GRCm39) |
G70D |
probably damaging |
Het |
| Def6 |
T |
A |
17: 28,444,956 (GRCm39) |
D451E |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,966,251 (GRCm39) |
C2480* |
probably null |
Het |
| Dnah9 |
T |
C |
11: 65,818,648 (GRCm39) |
N3230S |
probably benign |
Het |
| Dyrk4 |
G |
T |
6: 126,893,337 (GRCm39) |
S15* |
probably null |
Het |
| Erc1 |
T |
C |
6: 119,671,563 (GRCm39) |
R917G |
probably damaging |
Het |
| Frem3 |
G |
T |
8: 81,337,820 (GRCm39) |
V38L |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,249,796 (GRCm39) |
I441V |
probably benign |
Het |
| Gm14393 |
T |
A |
2: 174,905,774 (GRCm39) |
Y6F |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,969,417 (GRCm39) |
K256E |
possibly damaging |
Het |
| Gm21905 |
G |
T |
5: 68,103,740 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,424,656 (GRCm39) |
|
probably null |
Het |
| Hmces |
C |
A |
6: 87,913,121 (GRCm39) |
T292K |
probably benign |
Het |
| Hpse2 |
G |
A |
19: 43,376,692 (GRCm39) |
S20L |
probably benign |
Het |
| Ift70b |
G |
T |
2: 75,768,155 (GRCm39) |
S199R |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,204,224 (GRCm39) |
V23E |
probably null |
Het |
| Ino80 |
A |
T |
2: 119,210,130 (GRCm39) |
V1387E |
probably damaging |
Het |
| Islr |
G |
T |
9: 58,064,589 (GRCm39) |
A306D |
probably damaging |
Het |
| Jakmip1 |
G |
A |
5: 37,258,182 (GRCm39) |
G276D |
probably damaging |
Het |
| Jchain |
A |
G |
5: 88,673,979 (GRCm39) |
V55A |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,007,841 (GRCm39) |
K1350E |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,841,156 (GRCm39) |
Q48R |
possibly damaging |
Het |
| Kmt5a |
T |
C |
5: 124,585,334 (GRCm39) |
L23P |
probably damaging |
Het |
| Lrrc32 |
T |
C |
7: 98,148,564 (GRCm39) |
V448A |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,848,301 (GRCm39) |
M617T |
probably damaging |
Het |
| Mfap1a |
T |
C |
2: 121,333,282 (GRCm39) |
M50V |
probably benign |
Het |
| Mgam |
G |
T |
6: 40,736,062 (GRCm39) |
A854S |
probably damaging |
Het |
| Myo18b |
C |
A |
5: 112,840,899 (GRCm39) |
R2298L |
probably damaging |
Het |
| Myo1h |
T |
A |
5: 114,457,765 (GRCm39) |
M92K |
probably damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,303,950 (GRCm39) |
T192S |
probably benign |
Het |
| Nr2f1 |
A |
T |
13: 78,346,284 (GRCm39) |
Y137N |
possibly damaging |
Het |
| Nup98 |
T |
A |
7: 101,796,513 (GRCm39) |
D841V |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,966,827 (GRCm39) |
V59A |
probably damaging |
Het |
| Ogdhl |
C |
A |
14: 32,068,745 (GRCm39) |
N948K |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or12j3 |
A |
G |
7: 139,953,026 (GRCm39) |
S166P |
probably benign |
Het |
| Or13a24 |
A |
G |
7: 140,154,662 (GRCm39) |
T199A |
probably benign |
Het |
| Or51g1 |
A |
C |
7: 102,633,530 (GRCm39) |
Y280* |
probably null |
Het |
| Osgin1 |
G |
A |
8: 120,171,704 (GRCm39) |
R166H |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,706,746 (GRCm39) |
F741I |
probably benign |
Het |
| Palb2 |
G |
T |
7: 121,706,747 (GRCm39) |
Y740* |
probably null |
Het |
| Parvb |
G |
A |
15: 84,155,509 (GRCm39) |
D65N |
probably benign |
Het |
| Parvb |
G |
A |
15: 84,155,453 (GRCm39) |
G46D |
probably damaging |
Het |
| Pcsk2 |
A |
T |
2: 143,388,438 (GRCm39) |
K10* |
probably null |
Het |
| Pde3a |
C |
T |
6: 141,411,932 (GRCm39) |
A502V |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,882,185 (GRCm39) |
I893V |
probably benign |
Het |
| Pla2g4a |
A |
T |
1: 149,716,471 (GRCm39) |
D663E |
probably damaging |
Het |
| Prickle2 |
G |
A |
6: 92,435,583 (GRCm39) |
P6L |
probably damaging |
Het |
| Prx |
T |
A |
7: 27,217,026 (GRCm39) |
M648K |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,654,735 (GRCm39) |
N744S |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,554,435 (GRCm39) |
V97M |
probably damaging |
Het |
| Pvr |
T |
C |
7: 19,652,549 (GRCm39) |
E122G |
possibly damaging |
Het |
| Racgap1 |
T |
C |
15: 99,537,656 (GRCm39) |
K15E |
probably damaging |
Het |
| Rock1 |
C |
T |
18: 10,136,091 (GRCm39) |
|
probably null |
Het |
| Rorc |
T |
A |
3: 94,304,609 (GRCm39) |
Y331* |
probably null |
Het |
| Rpl37 |
T |
C |
15: 5,148,096 (GRCm39) |
V91A |
probably benign |
Het |
| Rrp36 |
T |
A |
17: 46,983,306 (GRCm39) |
K103* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,483,352 (GRCm39) |
M4142L |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,665,357 (GRCm39) |
L125H |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,365,541 (GRCm39) |
M369V |
possibly damaging |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
C |
CT |
11: 3,096,255 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
A |
T |
2: 130,912,307 (GRCm39) |
N1678K |
probably benign |
Het |
| Slc15a5 |
A |
T |
6: 138,049,992 (GRCm39) |
V141E |
probably benign |
Het |
| Slc8a3 |
A |
T |
12: 81,246,484 (GRCm39) |
H856Q |
probably benign |
Het |
| Sptlc2 |
T |
A |
12: 87,402,414 (GRCm39) |
M171L |
probably benign |
Het |
| Srcap |
T |
A |
7: 127,158,899 (GRCm39) |
|
probably benign |
Het |
| St6gal2 |
A |
G |
17: 55,797,944 (GRCm39) |
D310G |
probably damaging |
Het |
| Susd2 |
T |
A |
10: 75,473,888 (GRCm39) |
D689V |
probably damaging |
Het |
| Suz12 |
A |
T |
11: 79,910,558 (GRCm39) |
E303V |
possibly damaging |
Het |
| Taldo1 |
C |
A |
7: 140,978,500 (GRCm39) |
T150K |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,721,312 (GRCm39) |
F274I |
possibly damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,663 (GRCm39) |
D259G |
probably damaging |
Het |
| Tmem179 |
G |
T |
12: 112,468,288 (GRCm39) |
H64Q |
probably benign |
Het |
| Tmem236 |
A |
G |
2: 14,223,732 (GRCm39) |
T174A |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,884,811 (GRCm39) |
N1821K |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,752,773 (GRCm39) |
N261S |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,172,300 (GRCm39) |
F96L |
possibly damaging |
Het |
| Trim56 |
T |
A |
5: 137,142,017 (GRCm39) |
I500F |
probably damaging |
Het |
| Ttll5 |
A |
G |
12: 85,926,168 (GRCm39) |
I321V |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,608,367 (GRCm39) |
W17852L |
probably damaging |
Het |
| Twnk |
G |
A |
19: 44,997,820 (GRCm39) |
V450M |
probably damaging |
Het |
| Uba52 |
A |
G |
8: 70,962,206 (GRCm39) |
I127T |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,148,537 (GRCm39) |
|
probably null |
Het |
| Uggt1 |
A |
T |
1: 36,215,877 (GRCm39) |
M130K |
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,910,722 (GRCm39) |
T1101S |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,548,902 (GRCm39) |
S2269P |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,132,403 (GRCm39) |
R875L |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,332,471 (GRCm39) |
H1624L |
probably benign |
Het |
| Vipr1 |
T |
C |
9: 121,494,586 (GRCm39) |
L308S |
possibly damaging |
Het |
| Xdh |
T |
G |
17: 74,198,107 (GRCm39) |
K1260T |
probably damaging |
Het |
| Yipf4 |
A |
G |
17: 74,800,963 (GRCm39) |
I94V |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,478,206 (GRCm39) |
*3582W |
probably null |
Het |
| Zfp58 |
T |
C |
13: 67,640,144 (GRCm39) |
N116D |
possibly damaging |
Het |
| Zfp750 |
C |
A |
11: 121,402,819 (GRCm39) |
R643L |
probably benign |
Het |
| Znfx1 |
A |
G |
2: 166,884,507 (GRCm39) |
V51A |
possibly damaging |
Het |
|
| Other mutations in Lrba |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Lrba
|
APN |
3 |
86,267,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00788:Lrba
|
APN |
3 |
86,234,992 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01139:Lrba
|
APN |
3 |
86,549,969 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01302:Lrba
|
APN |
3 |
86,202,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01612:Lrba
|
APN |
3 |
86,683,484 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01718:Lrba
|
APN |
3 |
86,258,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01719:Lrba
|
APN |
3 |
86,234,903 (GRCm39) |
splice site |
probably benign |
|
|
IGL01730:Lrba
|
APN |
3 |
86,648,731 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01735:Lrba
|
APN |
3 |
86,234,968 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01875:Lrba
|
APN |
3 |
86,217,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01884:Lrba
|
APN |
3 |
86,217,719 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02264:Lrba
|
APN |
3 |
86,687,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02638:Lrba
|
APN |
3 |
86,232,380 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02647:Lrba
|
APN |
3 |
86,267,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02664:Lrba
|
APN |
3 |
86,233,038 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02728:Lrba
|
APN |
3 |
86,683,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02730:Lrba
|
APN |
3 |
86,235,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02883:Lrba
|
APN |
3 |
86,352,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02883:Lrba
|
APN |
3 |
86,261,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02948:Lrba
|
APN |
3 |
86,217,691 (GRCm39) |
splice site |
probably null |
|
|
IGL03090:Lrba
|
APN |
3 |
86,680,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
molasses
|
UTSW |
3 |
86,261,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
oscar
|
UTSW |
3 |
86,257,611 (GRCm39) |
nonsense |
probably null |
|
|
oscar2
|
UTSW |
3 |
86,571,765 (GRCm39) |
nonsense |
probably null |
|
|
P0023:Lrba
|
UTSW |
3 |
86,325,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Lrba
|
UTSW |
3 |
86,571,801 (GRCm39) |
nonsense |
probably null |
|
|
R0077:Lrba
|
UTSW |
3 |
86,449,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0189:Lrba
|
UTSW |
3 |
86,275,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0217:Lrba
|
UTSW |
3 |
86,550,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Lrba
|
UTSW |
3 |
86,447,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Lrba
|
UTSW |
3 |
86,202,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Lrba
|
UTSW |
3 |
86,622,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0536:Lrba
|
UTSW |
3 |
86,622,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0712:Lrba
|
UTSW |
3 |
86,205,297 (GRCm39) |
nonsense |
probably null |
|
|
R0722:Lrba
|
UTSW |
3 |
86,513,296 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0828:Lrba
|
UTSW |
3 |
86,515,677 (GRCm39) |
splice site |
probably null |
|
|
R0927:Lrba
|
UTSW |
3 |
86,687,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1120:Lrba
|
UTSW |
3 |
86,202,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1141:Lrba
|
UTSW |
3 |
86,526,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1276:Lrba
|
UTSW |
3 |
86,571,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Lrba
|
UTSW |
3 |
86,261,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Lrba
|
UTSW |
3 |
86,644,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Lrba
|
UTSW |
3 |
86,687,573 (GRCm39) |
splice site |
probably benign |
|
|
R1558:Lrba
|
UTSW |
3 |
86,258,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1596:Lrba
|
UTSW |
3 |
86,257,611 (GRCm39) |
nonsense |
probably null |
|
|
R1652:Lrba
|
UTSW |
3 |
86,447,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Lrba
|
UTSW |
3 |
86,259,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1819:Lrba
|
UTSW |
3 |
86,449,941 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1862:Lrba
|
UTSW |
3 |
86,680,510 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1917:Lrba
|
UTSW |
3 |
86,571,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Lrba
|
UTSW |
3 |
86,513,175 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1966:Lrba
|
UTSW |
3 |
86,513,175 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1969:Lrba
|
UTSW |
3 |
86,515,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2011:Lrba
|
UTSW |
3 |
86,217,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2179:Lrba
|
UTSW |
3 |
86,261,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2186:Lrba
|
UTSW |
3 |
86,211,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Lrba
|
UTSW |
3 |
86,683,410 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2359:Lrba
|
UTSW |
3 |
86,256,057 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2412:Lrba
|
UTSW |
3 |
86,235,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Lrba
|
UTSW |
3 |
86,439,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Lrba
|
UTSW |
3 |
86,192,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3708:Lrba
|
UTSW |
3 |
86,192,331 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3746:Lrba
|
UTSW |
3 |
86,283,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3747:Lrba
|
UTSW |
3 |
86,283,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3748:Lrba
|
UTSW |
3 |
86,283,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3749:Lrba
|
UTSW |
3 |
86,283,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3750:Lrba
|
UTSW |
3 |
86,283,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3758:Lrba
|
UTSW |
3 |
86,683,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3975:Lrba
|
UTSW |
3 |
86,258,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Lrba
|
UTSW |
3 |
86,267,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4258:Lrba
|
UTSW |
3 |
86,352,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Lrba
|
UTSW |
3 |
86,644,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4713:Lrba
|
UTSW |
3 |
86,267,175 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4716:Lrba
|
UTSW |
3 |
86,550,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4811:Lrba
|
UTSW |
3 |
86,683,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Lrba
|
UTSW |
3 |
86,267,457 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4840:Lrba
|
UTSW |
3 |
86,526,816 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4920:Lrba
|
UTSW |
3 |
86,571,765 (GRCm39) |
nonsense |
probably null |
|
|
R4948:Lrba
|
UTSW |
3 |
86,192,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Lrba
|
UTSW |
3 |
86,132,678 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4985:Lrba
|
UTSW |
3 |
86,234,743 (GRCm39) |
splice site |
probably null |
|
|
R4993:Lrba
|
UTSW |
3 |
86,267,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5107:Lrba
|
UTSW |
3 |
86,267,086 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5112:Lrba
|
UTSW |
3 |
86,132,678 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5122:Lrba
|
UTSW |
3 |
86,256,461 (GRCm39) |
nonsense |
probably null |
|
|
R5155:Lrba
|
UTSW |
3 |
86,258,607 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5194:Lrba
|
UTSW |
3 |
86,235,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5280:Lrba
|
UTSW |
3 |
86,232,329 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5445:Lrba
|
UTSW |
3 |
86,275,902 (GRCm39) |
missense |
probably benign |
|
|
R5469:Lrba
|
UTSW |
3 |
86,449,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5513:Lrba
|
UTSW |
3 |
86,449,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Lrba
|
UTSW |
3 |
86,664,814 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5740:Lrba
|
UTSW |
3 |
86,235,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5868:Lrba
|
UTSW |
3 |
86,226,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Lrba
|
UTSW |
3 |
86,261,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6166:Lrba
|
UTSW |
3 |
86,261,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6279:Lrba
|
UTSW |
3 |
86,256,171 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6330:Lrba
|
UTSW |
3 |
86,255,664 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6367:Lrba
|
UTSW |
3 |
86,275,869 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6571:Lrba
|
UTSW |
3 |
86,267,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6584:Lrba
|
UTSW |
3 |
86,571,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6698:Lrba
|
UTSW |
3 |
86,211,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6763:Lrba
|
UTSW |
3 |
86,261,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Lrba
|
UTSW |
3 |
86,257,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6951:Lrba
|
UTSW |
3 |
86,653,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6969:Lrba
|
UTSW |
3 |
86,526,897 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7045:Lrba
|
UTSW |
3 |
86,192,398 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7133:Lrba
|
UTSW |
3 |
86,302,238 (GRCm39) |
splice site |
probably null |
|
|
R7182:Lrba
|
UTSW |
3 |
86,648,765 (GRCm39) |
frame shift |
probably null |
|
|
R7214:Lrba
|
UTSW |
3 |
86,235,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Lrba
|
UTSW |
3 |
86,302,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7243:Lrba
|
UTSW |
3 |
86,658,823 (GRCm39) |
splice site |
probably null |
|
|
R7350:Lrba
|
UTSW |
3 |
86,259,209 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7380:Lrba
|
UTSW |
3 |
86,232,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7492:Lrba
|
UTSW |
3 |
86,571,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7651:Lrba
|
UTSW |
3 |
86,648,773 (GRCm39) |
nonsense |
probably null |
|
|
R7729:Lrba
|
UTSW |
3 |
86,225,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Lrba
|
UTSW |
3 |
86,352,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Lrba
|
UTSW |
3 |
86,439,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7855:Lrba
|
UTSW |
3 |
86,222,737 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7867:Lrba
|
UTSW |
3 |
86,275,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7912:Lrba
|
UTSW |
3 |
86,622,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7995:Lrba
|
UTSW |
3 |
86,526,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Lrba
|
UTSW |
3 |
86,325,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Lrba
|
UTSW |
3 |
86,325,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8024:Lrba
|
UTSW |
3 |
86,202,708 (GRCm39) |
nonsense |
probably null |
|
|
R8027:Lrba
|
UTSW |
3 |
86,325,219 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8090:Lrba
|
UTSW |
3 |
86,255,796 (GRCm39) |
missense |
probably benign |
|
|
R8111:Lrba
|
UTSW |
3 |
86,235,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8118:Lrba
|
UTSW |
3 |
86,261,533 (GRCm39) |
missense |
probably benign |
|
|
R8204:Lrba
|
UTSW |
3 |
86,222,710 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8239:Lrba
|
UTSW |
3 |
86,449,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8509:Lrba
|
UTSW |
3 |
86,255,483 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8532:Lrba
|
UTSW |
3 |
86,664,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Lrba
|
UTSW |
3 |
86,261,062 (GRCm39) |
missense |
probably benign |
|
|
R8744:Lrba
|
UTSW |
3 |
86,211,640 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8782:Lrba
|
UTSW |
3 |
86,549,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8784:Lrba
|
UTSW |
3 |
86,283,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Lrba
|
UTSW |
3 |
86,263,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8964:Lrba
|
UTSW |
3 |
86,258,552 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8971:Lrba
|
UTSW |
3 |
86,522,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9046:Lrba
|
UTSW |
3 |
86,302,543 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9155:Lrba
|
UTSW |
3 |
86,202,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9236:Lrba
|
UTSW |
3 |
86,261,066 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9266:Lrba
|
UTSW |
3 |
86,198,774 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9297:Lrba
|
UTSW |
3 |
86,280,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Lrba
|
UTSW |
3 |
86,205,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9617:Lrba
|
UTSW |
3 |
86,267,169 (GRCm39) |
missense |
probably benign |
|
|
R9640:Lrba
|
UTSW |
3 |
86,526,875 (GRCm39) |
nonsense |
probably null |
|
|
R9779:Lrba
|
UTSW |
3 |
86,233,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Lrba
|
UTSW |
3 |
86,232,396 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0065:Lrba
|
UTSW |
3 |
86,205,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lrba
|
UTSW |
3 |
86,658,839 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Lrba
|
UTSW |
3 |
86,622,845 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1177:Lrba
|
UTSW |
3 |
86,447,356 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGTAGCATGACCTCACCCAGG -3'
(R):5'- TGCAACAGAAACCACGAGCTGATG -3'
Sequencing Primer
(F):5'- TCCCGTAGAAACATGGGTTG -3'
(R):5'- GTGAGCACTGTAGCTAAATTTGC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation