Incidental Mutation 'R7534:Fam13b'
| ID |
583479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam13b
|
| Ensembl Gene |
ENSMUSG00000036501 |
| Gene Name |
family with sequence similarity 13, member B |
| Synonyms |
2610024E20Rik |
| MMRRC Submission |
045606-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.395)
|
| Stock # |
R7534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34442352-34506823 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34498007 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 40
(F40I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040506]
|
| AlphaFold |
Q8K2H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040506
AA Change: F40I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: F40I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310035C23Rik |
G |
A |
1: 105,741,023 (GRCm38) |
R993Q |
probably benign |
Het |
| Aif1 |
A |
C |
17: 35,171,414 (GRCm38) |
M120R |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,934,333 (GRCm38) |
|
probably null |
Het |
| Ankrd11 |
A |
T |
8: 122,894,410 (GRCm38) |
I901N |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,316,962 (GRCm38) |
S2304P |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,591,481 (GRCm38) |
C632S |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,971,935 (GRCm38) |
N1527S |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 30,079,362 (GRCm38) |
L1363P |
probably damaging |
Het |
| Cacna1g |
G |
A |
11: 94,411,078 (GRCm38) |
P2037S |
probably benign |
Het |
| Cdc27 |
A |
G |
11: 104,508,414 (GRCm38) |
L724S |
probably damaging |
Het |
| Cttnbp2 |
C |
T |
6: 18,420,765 (GRCm38) |
|
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,772,373 (GRCm38) |
A280V |
probably benign |
Het |
| Dclk3 |
G |
A |
9: 111,468,218 (GRCm38) |
G277R |
probably benign |
Het |
| Ddr1 |
A |
G |
17: 35,682,622 (GRCm38) |
|
probably null |
Het |
| Dnah7c |
A |
C |
1: 46,770,067 (GRCm38) |
D3515A |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,790,119 (GRCm38) |
T49M |
probably damaging |
Het |
| Fancd2os |
T |
C |
6: 113,597,640 (GRCm38) |
H135R |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,638,026 (GRCm38) |
I1446V |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,999,348 (GRCm38) |
Y584* |
probably null |
Het |
| Galnt16 |
A |
T |
12: 80,597,135 (GRCm38) |
L442F |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,299,916 (GRCm38) |
|
probably benign |
Het |
| Ggta1 |
C |
T |
2: 35,402,428 (GRCm38) |
R289Q |
probably damaging |
Het |
| Gm11564 |
T |
C |
11: 99,815,521 (GRCm38) |
T28A |
unknown |
Het |
| Hcn1 |
A |
G |
13: 117,975,425 (GRCm38) |
T642A |
unknown |
Het |
| Hhat |
A |
T |
1: 192,726,304 (GRCm38) |
L173H |
probably damaging |
Het |
| Hook1 |
T |
G |
4: 96,017,597 (GRCm38) |
I585S |
probably benign |
Het |
| Ighg1 |
A |
T |
12: 113,329,729 (GRCm38) |
S114T |
|
Het |
| Kmt2d |
G |
A |
15: 98,852,018 (GRCm38) |
P2598L |
unknown |
Het |
| Macc1 |
A |
T |
12: 119,447,519 (GRCm38) |
H674L |
probably benign |
Het |
| Mypn |
T |
C |
10: 63,193,131 (GRCm38) |
E51G |
probably benign |
Het |
| Olfr1012 |
A |
C |
2: 85,759,459 (GRCm38) |
L306V |
probably benign |
Het |
| Olfr134 |
T |
A |
17: 38,175,297 (GRCm38) |
M71K |
probably benign |
Het |
| Olfr862 |
A |
G |
9: 19,884,176 (GRCm38) |
V43A |
probably benign |
Het |
| Pnliprp2 |
T |
A |
19: 58,775,142 (GRCm38) |
S408T |
probably benign |
Het |
| Ppara |
A |
C |
15: 85,777,726 (GRCm38) |
Y56S |
probably benign |
Het |
| Ppp1r1a |
A |
G |
15: 103,532,389 (GRCm38) |
C114R |
probably benign |
Het |
| Pycard |
C |
T |
7: 127,993,485 (GRCm38) |
V57I |
probably damaging |
Het |
| Rin3 |
T |
G |
12: 102,350,941 (GRCm38) |
Y143D |
unknown |
Het |
| Slc12a7 |
A |
G |
13: 73,764,068 (GRCm38) |
|
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 73,050,107 (GRCm38) |
R444H |
probably damaging |
Het |
| Ttf2 |
C |
T |
3: 100,950,412 (GRCm38) |
|
probably null |
Het |
| Ufsp2 |
T |
A |
8: 45,980,324 (GRCm38) |
I25N |
probably benign |
Het |
| Uqcrc2 |
A |
G |
7: 120,641,689 (GRCm38) |
T115A |
possibly damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,255,231 (GRCm38) |
R328* |
probably null |
Het |
| Vmn2r8 |
T |
A |
5: 108,802,174 (GRCm38) |
Y269F |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,995,030 (GRCm38) |
Y118C |
probably damaging |
Het |
| Zeb1 |
T |
C |
18: 5,766,611 (GRCm38) |
V374A |
probably damaging |
Het |
|
| Other mutations in Fam13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Fam13b
|
APN |
18 |
34,487,096 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL00402:Fam13b
|
APN |
18 |
34,454,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00556:Fam13b
|
APN |
18 |
34,497,435 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02123:Fam13b
|
APN |
18 |
34,445,618 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02313:Fam13b
|
APN |
18 |
34,454,656 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02346:Fam13b
|
APN |
18 |
34,462,105 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02347:Fam13b
|
APN |
18 |
34,454,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02694:Fam13b
|
APN |
18 |
34,451,206 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03347:Fam13b
|
APN |
18 |
34,462,051 (GRCm38) |
splice site |
probably benign |
|
|
R0109:Fam13b
|
UTSW |
18 |
34,451,308 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0233:Fam13b
|
UTSW |
18 |
34,448,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0455:Fam13b
|
UTSW |
18 |
34,445,528 (GRCm38) |
unclassified |
probably benign |
|
|
R1229:Fam13b
|
UTSW |
18 |
34,445,583 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1397:Fam13b
|
UTSW |
18 |
34,445,583 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1571:Fam13b
|
UTSW |
18 |
34,497,432 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1703:Fam13b
|
UTSW |
18 |
34,451,439 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1732:Fam13b
|
UTSW |
18 |
34,487,134 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1777:Fam13b
|
UTSW |
18 |
34,457,760 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1956:Fam13b
|
UTSW |
18 |
34,445,329 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R2296:Fam13b
|
UTSW |
18 |
34,494,761 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3881:Fam13b
|
UTSW |
18 |
34,462,059 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3896:Fam13b
|
UTSW |
18 |
34,462,955 (GRCm38) |
splice site |
probably benign |
|
|
R5277:Fam13b
|
UTSW |
18 |
34,462,190 (GRCm38) |
missense |
probably benign |
|
|
R5759:Fam13b
|
UTSW |
18 |
34,497,435 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5817:Fam13b
|
UTSW |
18 |
34,457,797 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5897:Fam13b
|
UTSW |
18 |
34,454,081 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6009:Fam13b
|
UTSW |
18 |
34,497,405 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6020:Fam13b
|
UTSW |
18 |
34,494,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6087:Fam13b
|
UTSW |
18 |
34,487,139 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6151:Fam13b
|
UTSW |
18 |
34,494,277 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6454:Fam13b
|
UTSW |
18 |
34,457,662 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6464:Fam13b
|
UTSW |
18 |
34,473,631 (GRCm38) |
nonsense |
probably null |
|
|
R6679:Fam13b
|
UTSW |
18 |
34,487,022 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6723:Fam13b
|
UTSW |
18 |
34,498,026 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6990:Fam13b
|
UTSW |
18 |
34,497,447 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7420:Fam13b
|
UTSW |
18 |
34,494,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7517:Fam13b
|
UTSW |
18 |
34,494,607 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7889:Fam13b
|
UTSW |
18 |
34,457,691 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8139:Fam13b
|
UTSW |
18 |
34,473,633 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R8776:Fam13b
|
UTSW |
18 |
34,451,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8776-TAIL:Fam13b
|
UTSW |
18 |
34,451,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8826:Fam13b
|
UTSW |
18 |
34,498,017 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9166:Fam13b
|
UTSW |
18 |
34,462,199 (GRCm38) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGGGTAACTGCCATTTCC -3'
(R):5'- GTGCACATTCAGGTGTAAAAGC -3'
Sequencing Primer
(F):5'- GGGTAACTGCCATTTCCAGGTAAATC -3'
(R):5'- ATGTATTTACTCATATTGCCACCTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation