Incidental Mutation 'R5277:Fam13b'
| ID |
404024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam13b
|
| Ensembl Gene |
ENSMUSG00000036501 |
| Gene Name |
family with sequence similarity 13, member B |
| Synonyms |
2610024E20Rik |
| MMRRC Submission |
042864-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
R5277 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34575404-34639884 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34595243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 374
(R374C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040506]
|
| AlphaFold |
Q8K2H3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040506
AA Change: R374C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: R374C
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,884,660 (GRCm39) |
T54A |
probably damaging |
Het |
| Ablim1 |
T |
C |
19: 57,143,693 (GRCm39) |
R89G |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,844,128 (GRCm39) |
|
probably null |
Het |
| Bhmt |
A |
T |
13: 93,761,393 (GRCm39) |
M185K |
possibly damaging |
Het |
| Camk2d |
T |
C |
3: 126,478,390 (GRCm39) |
|
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,251,915 (GRCm39) |
S70P |
probably benign |
Het |
| Dclre1a |
C |
T |
19: 56,533,164 (GRCm39) |
V477I |
possibly damaging |
Het |
| Dnah10 |
C |
T |
5: 124,905,201 (GRCm39) |
P4021L |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,769,204 (GRCm39) |
N57D |
possibly damaging |
Het |
| Fyb2 |
G |
A |
4: 104,872,876 (GRCm39) |
D686N |
probably damaging |
Het |
| Glra3 |
G |
A |
8: 56,444,242 (GRCm39) |
M67I |
possibly damaging |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Gm6180 |
A |
G |
8: 42,700,177 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2c |
A |
G |
11: 115,144,639 (GRCm39) |
V629A |
probably damaging |
Het |
| Kif4-ps |
A |
T |
12: 101,112,186 (GRCm39) |
|
noncoding transcript |
Het |
| Mc3r |
T |
C |
2: 172,091,707 (GRCm39) |
F310L |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,143,180 (GRCm39) |
D1036G |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,194,019 (GRCm39) |
I790T |
probably benign |
Het |
| Myo15a |
C |
A |
11: 60,367,940 (GRCm39) |
Y233* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 125,954,277 (GRCm39) |
C758* |
probably null |
Het |
| Neurog3 |
T |
A |
10: 61,969,632 (GRCm39) |
Y36N |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,863 (GRCm39) |
L450P |
probably benign |
Het |
| Or52d13 |
A |
T |
7: 103,110,148 (GRCm39) |
L84H |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,896,045 (GRCm39) |
E170G |
possibly damaging |
Het |
| Ppp2r2b |
G |
T |
18: 42,874,207 (GRCm39) |
T41K |
probably damaging |
Het |
| Prmt5 |
A |
T |
14: 54,747,399 (GRCm39) |
D459E |
probably benign |
Het |
| Ric8b |
G |
A |
10: 84,783,516 (GRCm39) |
V125M |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,713,782 (GRCm39) |
S4G |
probably damaging |
Het |
| Rslcan18 |
T |
G |
13: 67,246,498 (GRCm39) |
E371D |
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,317,107 (GRCm39) |
F819Y |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,409,611 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,217,688 (GRCm39) |
T163I |
possibly damaging |
Het |
| Sphkap |
T |
C |
1: 83,253,885 (GRCm39) |
N1288S |
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,723,192 (GRCm39) |
|
probably null |
Het |
| Tmem63c |
T |
A |
12: 87,104,531 (GRCm39) |
|
probably null |
Het |
| Tmem69 |
A |
G |
4: 116,410,458 (GRCm39) |
F171L |
probably benign |
Het |
| Urod |
A |
T |
4: 116,847,482 (GRCm39) |
|
probably benign |
Het |
| Vmn1r37 |
A |
T |
6: 66,708,460 (GRCm39) |
I29L |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,393 (GRCm39) |
T653A |
possibly damaging |
Het |
| Vmn2r75 |
A |
C |
7: 85,815,500 (GRCm39) |
S121R |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,995 (GRCm39) |
T831A |
probably benign |
Het |
| Wdr70 |
C |
T |
15: 8,006,465 (GRCm39) |
W362* |
probably null |
Het |
| Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,765,403 (GRCm39) |
V32A |
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 |
|
|
R5759:Fam13b
|
UTSW |
18 |
34,630,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ATGGCAAGCACTGTCCAGAG -3'
(R):5'- CCACTGTGTACAGATAAGTAGAAATGG -3'
Sequencing Primer
(F):5'- ACTGTCCAGAGGAGGGC -3'
(R):5'- GGACAGTTGGTTTTGTTGGGACAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation