Incidental Mutation 'IGL02097:Lmbr1l'
| ID |
279614 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmbr1l
|
| Ensembl Gene |
ENSMUSG00000022999 |
| Gene Name |
limb region 1 like |
| Synonyms |
D15Ertd735e, 1110013E13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02097
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98801798-98815944 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98815772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 11
(V11M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023736]
[ENSMUST00000109127]
|
| AlphaFold |
Q9D1E5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023736
AA Change: V11M
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: V11M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
28 |
269 |
2e-41 |
PFAM |
|
Pfam:LMBR1
|
266 |
450 |
1.2e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109127
|
| SMART Domains |
Protein: ENSMUSP00000104755
Gene: ENSMUSG00000022999
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
1 |
324 |
6.3e-110 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128818
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
T |
5: 105,109,052 (GRCm39) |
V415D |
possibly damaging |
Het |
| Adcy3 |
C |
T |
12: 4,262,118 (GRCm39) |
A1056V |
probably damaging |
Het |
| Adcy5 |
G |
A |
16: 35,092,468 (GRCm39) |
A610T |
probably damaging |
Het |
| Arhgap21 |
G |
A |
2: 20,884,813 (GRCm39) |
T788I |
probably benign |
Het |
| Asic1 |
T |
C |
15: 99,592,567 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
T |
A |
9: 107,870,199 (GRCm39) |
M68K |
probably benign |
Het |
| Cdhr5 |
G |
T |
7: 140,849,894 (GRCm39) |
T637K |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,529,489 (GRCm39) |
C289S |
probably damaging |
Het |
| Cpne4 |
T |
C |
9: 104,563,701 (GRCm39) |
V26A |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,261,773 (GRCm39) |
D908G |
probably null |
Het |
| Cyp2c29 |
A |
G |
19: 39,296,064 (GRCm39) |
D126G |
probably damaging |
Het |
| Ddx42 |
G |
A |
11: 106,129,986 (GRCm39) |
S426N |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,026,958 (GRCm39) |
V689M |
possibly damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,006,715 (GRCm39) |
T246A |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,205,889 (GRCm39) |
M1036K |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,048,527 (GRCm39) |
N536S |
probably benign |
Het |
| Gnal |
G |
A |
18: 67,350,279 (GRCm39) |
|
probably benign |
Het |
| Gns |
A |
G |
10: 121,226,598 (GRCm39) |
T416A |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,124,943 (GRCm39) |
T603I |
probably damaging |
Het |
| Hsp90b1 |
T |
A |
10: 86,527,548 (GRCm39) |
|
probably benign |
Het |
| Krt23 |
C |
T |
11: 99,383,836 (GRCm39) |
G19R |
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,014,956 (GRCm39) |
R1584H |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,489,447 (GRCm39) |
K511E |
possibly damaging |
Het |
| Mrgpra3 |
C |
A |
7: 47,239,204 (GRCm39) |
V241F |
possibly damaging |
Het |
| Myh3 |
A |
G |
11: 66,973,750 (GRCm39) |
D141G |
probably benign |
Het |
| Mylk2 |
G |
A |
2: 152,757,056 (GRCm39) |
C277Y |
probably damaging |
Het |
| Myo3b |
A |
T |
2: 70,069,173 (GRCm39) |
T471S |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,562,096 (GRCm39) |
V1023A |
probably benign |
Het |
| Olfm5 |
T |
A |
7: 103,803,438 (GRCm39) |
T342S |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,647,511 (GRCm39) |
F273L |
probably benign |
Het |
| Or2f1b |
T |
A |
6: 42,739,394 (GRCm39) |
M136K |
probably damaging |
Het |
| Pglyrp4 |
T |
C |
3: 90,642,910 (GRCm39) |
F263L |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,906,608 (GRCm39) |
T1148S |
possibly damaging |
Het |
| Prrc2b |
T |
C |
2: 32,081,513 (GRCm39) |
|
probably benign |
Het |
| Rbm28 |
G |
T |
6: 29,138,617 (GRCm39) |
D398E |
possibly damaging |
Het |
| Rnf220 |
A |
G |
4: 117,130,524 (GRCm39) |
F234L |
probably benign |
Het |
| Sele |
T |
C |
1: 163,880,662 (GRCm39) |
S415P |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,094,821 (GRCm39) |
L79P |
probably damaging |
Het |
| Slc35f4 |
C |
T |
14: 49,543,703 (GRCm39) |
A148T |
probably damaging |
Het |
| Slc6a20a |
G |
A |
9: 123,489,684 (GRCm39) |
P120S |
possibly damaging |
Het |
| Slc8a2 |
A |
G |
7: 15,891,081 (GRCm39) |
E701G |
possibly damaging |
Het |
| Slco1a1 |
T |
A |
6: 141,885,765 (GRCm39) |
I87F |
possibly damaging |
Het |
| Srebf1 |
T |
G |
11: 60,093,650 (GRCm39) |
D739A |
probably damaging |
Het |
| Thg1l |
A |
G |
11: 45,841,055 (GRCm39) |
Y175H |
probably benign |
Het |
| Traf3ip2 |
G |
A |
10: 39,530,475 (GRCm39) |
V540M |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,753,329 (GRCm39) |
D644G |
probably damaging |
Het |
| Zbtb1 |
A |
T |
12: 76,433,371 (GRCm39) |
K452N |
probably damaging |
Het |
| Zfhx2 |
C |
T |
14: 55,300,351 (GRCm39) |
G2467R |
probably damaging |
Het |
| Zfp334 |
A |
T |
2: 165,223,643 (GRCm39) |
Y133* |
probably null |
Het |
|
| Other mutations in Lmbr1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02002:Lmbr1l
|
APN |
15 |
98,802,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02731:Lmbr1l
|
APN |
15 |
98,815,777 (GRCm39) |
missense |
probably damaging |
0.96 |
|
finch
|
UTSW |
15 |
98,807,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
Gooseberry
|
UTSW |
15 |
98,810,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
junco
|
UTSW |
15 |
98,810,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
morula
|
UTSW |
15 |
98,802,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
munia
|
UTSW |
15 |
98,807,150 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
strawberry
|
UTSW |
15 |
98,807,144 (GRCm39) |
nonsense |
probably null |
|
|
R0310:Lmbr1l
|
UTSW |
15 |
98,806,654 (GRCm39) |
splice site |
probably benign |
|
|
R1778:Lmbr1l
|
UTSW |
15 |
98,810,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Lmbr1l
|
UTSW |
15 |
98,805,418 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2419:Lmbr1l
|
UTSW |
15 |
98,805,418 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4181:Lmbr1l
|
UTSW |
15 |
98,806,601 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4379:Lmbr1l
|
UTSW |
15 |
98,807,144 (GRCm39) |
nonsense |
probably null |
|
|
R4472:Lmbr1l
|
UTSW |
15 |
98,804,178 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5290:Lmbr1l
|
UTSW |
15 |
98,810,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5410:Lmbr1l
|
UTSW |
15 |
98,807,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Lmbr1l
|
UTSW |
15 |
98,802,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5667:Lmbr1l
|
UTSW |
15 |
98,805,489 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5671:Lmbr1l
|
UTSW |
15 |
98,805,489 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5918:Lmbr1l
|
UTSW |
15 |
98,810,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6735:Lmbr1l
|
UTSW |
15 |
98,807,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6882:Lmbr1l
|
UTSW |
15 |
98,805,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7131:Lmbr1l
|
UTSW |
15 |
98,804,204 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7136:Lmbr1l
|
UTSW |
15 |
98,809,372 (GRCm39) |
splice site |
probably null |
|
|
R7169:Lmbr1l
|
UTSW |
15 |
98,807,075 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7169:Lmbr1l
|
UTSW |
15 |
98,807,039 (GRCm39) |
frame shift |
probably null |
|
|
R7336:Lmbr1l
|
UTSW |
15 |
98,811,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7541:Lmbr1l
|
UTSW |
15 |
98,807,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7603:Lmbr1l
|
UTSW |
15 |
98,806,572 (GRCm39) |
nonsense |
probably null |
|
|
R7974:Lmbr1l
|
UTSW |
15 |
98,809,500 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8354:Lmbr1l
|
UTSW |
15 |
98,810,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8454:Lmbr1l
|
UTSW |
15 |
98,810,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8504:Lmbr1l
|
UTSW |
15 |
98,810,065 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8933:Lmbr1l
|
UTSW |
15 |
98,807,150 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8974:Lmbr1l
|
UTSW |
15 |
98,810,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation