Incidental Mutation 'R5759:Fam13b'
| ID |
445214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam13b
|
| Ensembl Gene |
ENSMUSG00000036501 |
| Gene Name |
family with sequence similarity 13, member B |
| Synonyms |
2610024E20Rik |
| MMRRC Submission |
043361-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.319)
|
| Stock # |
R5759 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
34575404-34639884 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34630488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 90
(D90G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040506]
|
| AlphaFold |
Q8K2H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040506
AA Change: D90G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: D90G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
RhoGAP
|
36 |
209 |
3.28e-44 |
SMART |
|
coiled coil region
|
220 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
coiled coil region
|
507 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
726 |
N/A |
INTRINSIC |
|
coiled coil region
|
778 |
807 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,419 (GRCm39) |
S1203P |
probably benign |
Het |
| Adamts1 |
A |
G |
16: 85,594,936 (GRCm39) |
V341A |
possibly damaging |
Het |
| Arf2 |
G |
A |
11: 103,874,459 (GRCm39) |
G144S |
probably benign |
Het |
| Atr |
A |
G |
9: 95,756,455 (GRCm39) |
N862D |
probably benign |
Het |
| Cep295nl |
T |
C |
11: 118,224,472 (GRCm39) |
H124R |
possibly damaging |
Het |
| Chd6 |
C |
T |
2: 160,825,682 (GRCm39) |
V1141I |
possibly damaging |
Het |
| Chst5 |
C |
A |
8: 112,616,842 (GRCm39) |
K259N |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,413,383 (GRCm39) |
D1144V |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,282,792 (GRCm39) |
Y2795C |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,316,280 (GRCm39) |
N3131S |
probably damaging |
Het |
| Dnah7c |
G |
A |
1: 46,654,527 (GRCm39) |
G1436R |
probably damaging |
Het |
| Emp2 |
T |
A |
16: 10,102,374 (GRCm39) |
Y146F |
probably damaging |
Het |
| Exoc6 |
C |
T |
19: 37,562,189 (GRCm39) |
Q148* |
probably null |
Het |
| Fam186b |
T |
G |
15: 99,177,598 (GRCm39) |
Y576S |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,857,775 (GRCm39) |
V2023A |
probably benign |
Het |
| Grm5 |
A |
C |
7: 87,675,808 (GRCm39) |
M441L |
probably damaging |
Het |
| Hhatl |
A |
G |
9: 121,617,343 (GRCm39) |
Y297H |
probably damaging |
Het |
| Ifi30 |
A |
G |
8: 71,219,188 (GRCm39) |
|
probably benign |
Het |
| Ing2 |
G |
T |
8: 48,122,040 (GRCm39) |
N169K |
possibly damaging |
Het |
| Kat6a |
T |
G |
8: 23,428,028 (GRCm39) |
S1128A |
probably benign |
Het |
| Madd |
T |
C |
2: 90,992,420 (GRCm39) |
E1041G |
possibly damaging |
Het |
| Mcm3 |
CT |
CTT |
1: 20,878,972 (GRCm39) |
|
probably null |
Het |
| Mfsd5 |
G |
A |
15: 102,189,513 (GRCm39) |
G295D |
possibly damaging |
Het |
| Minar1 |
A |
T |
9: 89,483,125 (GRCm39) |
N757K |
probably benign |
Het |
| Mmp20 |
T |
A |
9: 7,628,378 (GRCm39) |
|
probably null |
Het |
| Mybphl |
T |
C |
3: 108,282,070 (GRCm39) |
V100A |
probably benign |
Het |
| Ndfip2 |
T |
A |
14: 105,539,750 (GRCm39) |
|
probably null |
Het |
| Or7e170 |
A |
G |
9: 19,795,484 (GRCm39) |
V39A |
probably benign |
Het |
| Or7e175 |
T |
A |
9: 20,049,228 (GRCm39) |
V272E |
probably benign |
Het |
| Or8b1c |
T |
A |
9: 38,384,831 (GRCm39) |
S263T |
possibly damaging |
Het |
| Phf19 |
T |
G |
2: 34,787,135 (GRCm39) |
D443A |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,234,394 (GRCm39) |
V84A |
probably damaging |
Het |
| Septin9 |
A |
G |
11: 117,243,094 (GRCm39) |
I94V |
probably benign |
Het |
| Slc35a1 |
C |
A |
4: 34,675,032 (GRCm39) |
V132L |
probably benign |
Het |
| Sntg1 |
G |
A |
1: 8,484,494 (GRCm39) |
S442L |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,108,196 (GRCm39) |
T84A |
probably benign |
Het |
| Tchhl1 |
C |
G |
3: 93,378,863 (GRCm39) |
S522R |
probably damaging |
Het |
| Tmem106b |
A |
G |
6: 13,075,041 (GRCm39) |
E76G |
probably damaging |
Het |
| Tnk2 |
C |
T |
16: 32,499,482 (GRCm39) |
P932S |
probably benign |
Het |
| Trib1 |
G |
A |
15: 59,526,350 (GRCm39) |
V307I |
probably benign |
Het |
| Trib3 |
A |
T |
2: 152,185,215 (GRCm39) |
D11E |
probably benign |
Het |
| Trim34b |
T |
C |
7: 103,980,640 (GRCm39) |
S243P |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,905 (GRCm39) |
I280T |
probably damaging |
Het |
| Zfp1010 |
A |
T |
2: 176,956,765 (GRCm39) |
C244* |
probably null |
Het |
| Zfp445 |
G |
T |
9: 122,682,211 (GRCm39) |
Q577K |
probably benign |
Het |
| Zfp599 |
T |
C |
9: 22,160,957 (GRCm39) |
K403E |
probably damaging |
Het |
|
| Other mutations in Fam13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Fam13b
|
APN |
18 |
34,620,149 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00402:Fam13b
|
APN |
18 |
34,587,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00556:Fam13b
|
APN |
18 |
34,630,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02123:Fam13b
|
APN |
18 |
34,578,671 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02313:Fam13b
|
APN |
18 |
34,587,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02346:Fam13b
|
APN |
18 |
34,595,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02347:Fam13b
|
APN |
18 |
34,587,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02694:Fam13b
|
APN |
18 |
34,584,259 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03347:Fam13b
|
APN |
18 |
34,595,104 (GRCm39) |
splice site |
probably benign |
|
|
R0109:Fam13b
|
UTSW |
18 |
34,584,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0233:Fam13b
|
UTSW |
18 |
34,581,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Fam13b
|
UTSW |
18 |
34,578,581 (GRCm39) |
unclassified |
probably benign |
|
|
R1229:Fam13b
|
UTSW |
18 |
34,578,636 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1397:Fam13b
|
UTSW |
18 |
34,578,636 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1571:Fam13b
|
UTSW |
18 |
34,630,485 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1703:Fam13b
|
UTSW |
18 |
34,584,492 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1732:Fam13b
|
UTSW |
18 |
34,620,187 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1777:Fam13b
|
UTSW |
18 |
34,590,813 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1956:Fam13b
|
UTSW |
18 |
34,578,382 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2296:Fam13b
|
UTSW |
18 |
34,627,814 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3881:Fam13b
|
UTSW |
18 |
34,595,112 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3896:Fam13b
|
UTSW |
18 |
34,596,008 (GRCm39) |
splice site |
probably benign |
|
|
R5277:Fam13b
|
UTSW |
18 |
34,595,243 (GRCm39) |
missense |
probably benign |
|
|
R5817:Fam13b
|
UTSW |
18 |
34,590,850 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5897:Fam13b
|
UTSW |
18 |
34,587,134 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6009:Fam13b
|
UTSW |
18 |
34,630,458 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6020:Fam13b
|
UTSW |
18 |
34,627,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6087:Fam13b
|
UTSW |
18 |
34,620,192 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6151:Fam13b
|
UTSW |
18 |
34,627,330 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6454:Fam13b
|
UTSW |
18 |
34,590,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6464:Fam13b
|
UTSW |
18 |
34,606,684 (GRCm39) |
nonsense |
probably null |
|
|
R6679:Fam13b
|
UTSW |
18 |
34,620,075 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6723:Fam13b
|
UTSW |
18 |
34,631,079 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6990:Fam13b
|
UTSW |
18 |
34,630,500 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7420:Fam13b
|
UTSW |
18 |
34,627,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7517:Fam13b
|
UTSW |
18 |
34,627,660 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7534:Fam13b
|
UTSW |
18 |
34,631,060 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7889:Fam13b
|
UTSW |
18 |
34,590,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8139:Fam13b
|
UTSW |
18 |
34,606,686 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8776:Fam13b
|
UTSW |
18 |
34,584,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776-TAIL:Fam13b
|
UTSW |
18 |
34,584,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8826:Fam13b
|
UTSW |
18 |
34,631,070 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9166:Fam13b
|
UTSW |
18 |
34,595,252 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCAAGAATTTTGCCACTCC -3'
(R):5'- TGCATATGTGGCTAGACACTTG -3'
Sequencing Primer
(F):5'- AAGAATTTTGCCACTCCCTTAAC -3'
(R):5'- GACACTTGAAGGTGCAGCTTAATTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation