Incidental Mutation 'R1222:Fam13a'
ID |
152757 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam13a
|
Ensembl Gene |
ENSMUSG00000037709 |
Gene Name |
family with sequence similarity 13, member A |
Synonyms |
D430015B01Rik |
MMRRC Submission |
039291-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1222 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
58910521-59001487 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 58912707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089860]
[ENSMUST00000173193]
|
AlphaFold |
Q8BGI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089860
|
SMART Domains |
Protein: ENSMUSP00000087304 Gene: ENSMUSG00000037709
Domain | Start | End | E-Value | Type |
Blast:RhoGAP
|
19 |
128 |
6e-27 |
BLAST |
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
low complexity region
|
159 |
171 |
N/A |
INTRINSIC |
low complexity region
|
173 |
185 |
N/A |
INTRINSIC |
coiled coil region
|
336 |
363 |
N/A |
INTRINSIC |
low complexity region
|
419 |
433 |
N/A |
INTRINSIC |
coiled coil region
|
620 |
645 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173193
|
SMART Domains |
Protein: ENSMUSP00000134135 Gene: ENSMUSG00000037709
Domain | Start | End | E-Value | Type |
Blast:RhoGAP
|
21 |
128 |
6e-27 |
BLAST |
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
low complexity region
|
159 |
171 |
N/A |
INTRINSIC |
low complexity region
|
173 |
185 |
N/A |
INTRINSIC |
coiled coil region
|
336 |
363 |
N/A |
INTRINSIC |
low complexity region
|
419 |
433 |
N/A |
INTRINSIC |
coiled coil region
|
592 |
617 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
A |
3: 59,784,682 (GRCm39) |
L385* |
probably null |
Het |
Abca9 |
T |
C |
11: 110,035,890 (GRCm39) |
|
probably benign |
Het |
Abl1 |
T |
C |
2: 31,691,006 (GRCm39) |
S842P |
probably benign |
Het |
Agrn |
C |
A |
4: 156,261,842 (GRCm39) |
V483L |
probably damaging |
Het |
Ankrd13a |
T |
A |
5: 114,938,824 (GRCm39) |
C365* |
probably null |
Het |
Ap2b1 |
T |
C |
11: 83,237,564 (GRCm39) |
S543P |
probably benign |
Het |
Atic |
C |
T |
1: 71,598,438 (GRCm39) |
T67I |
probably damaging |
Het |
Bhmt1b |
A |
G |
18: 87,775,458 (GRCm39) |
K327R |
probably damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cux1 |
C |
T |
5: 136,304,003 (GRCm39) |
R1391Q |
probably benign |
Het |
Cyp2a4 |
T |
C |
7: 26,008,013 (GRCm39) |
V140A |
possibly damaging |
Het |
Dlgap3 |
A |
T |
4: 127,088,406 (GRCm39) |
M1L |
probably null |
Het |
Dnah3 |
T |
C |
7: 119,689,899 (GRCm39) |
D2G |
probably benign |
Het |
Erbb3 |
A |
C |
10: 128,407,534 (GRCm39) |
V938G |
probably damaging |
Het |
Gata2 |
G |
A |
6: 88,177,323 (GRCm39) |
V118I |
probably benign |
Het |
Gm2663 |
T |
C |
6: 40,972,975 (GRCm39) |
I211V |
probably benign |
Het |
Izumo3 |
T |
A |
4: 92,033,284 (GRCm39) |
N104I |
probably damaging |
Het |
Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
Mctp2 |
T |
A |
7: 71,908,887 (GRCm39) |
H142L |
probably benign |
Het |
Mmp10 |
T |
C |
9: 7,505,682 (GRCm39) |
|
probably benign |
Het |
Mroh8 |
G |
A |
2: 157,083,774 (GRCm39) |
|
probably benign |
Het |
Mylk |
T |
C |
16: 34,681,022 (GRCm39) |
V94A |
probably benign |
Het |
Nol6 |
A |
T |
4: 41,120,760 (GRCm39) |
N396K |
probably benign |
Het |
Nr4a2 |
A |
T |
2: 56,998,336 (GRCm39) |
N543K |
probably damaging |
Het |
Nynrin |
T |
C |
14: 56,100,998 (GRCm39) |
S263P |
probably benign |
Het |
Or10ag53 |
G |
T |
2: 87,082,766 (GRCm39) |
G162C |
probably benign |
Het |
Or1e35 |
A |
T |
11: 73,798,240 (GRCm39) |
L26H |
probably damaging |
Het |
Or5p68 |
T |
A |
7: 107,945,313 (GRCm39) |
I292F |
probably damaging |
Het |
Or7d10 |
G |
A |
9: 19,832,344 (GRCm39) |
V280I |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,637,680 (GRCm39) |
R368S |
probably benign |
Het |
Plekhg4 |
G |
A |
8: 106,105,742 (GRCm39) |
A736T |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,482,957 (GRCm39) |
D1550G |
probably damaging |
Het |
Qrfpr |
C |
A |
3: 36,234,244 (GRCm39) |
G366W |
probably damaging |
Het |
Qser1 |
C |
A |
2: 104,607,776 (GRCm39) |
A1471S |
probably damaging |
Het |
Rars1 |
A |
T |
11: 35,700,567 (GRCm39) |
Y505N |
probably damaging |
Het |
Reln |
T |
A |
5: 22,191,953 (GRCm39) |
T1496S |
probably null |
Het |
Rrs1 |
T |
C |
1: 9,616,080 (GRCm39) |
L111P |
probably benign |
Het |
Selplg |
C |
T |
5: 113,957,434 (GRCm39) |
V291M |
possibly damaging |
Het |
Serpinb1c |
T |
A |
13: 33,080,934 (GRCm39) |
T50S |
possibly damaging |
Het |
Slc4a5 |
A |
G |
6: 83,257,114 (GRCm39) |
K640E |
probably damaging |
Het |
Szt2 |
A |
T |
4: 118,262,656 (GRCm39) |
H40Q |
possibly damaging |
Het |
Taar4 |
C |
T |
10: 23,837,230 (GRCm39) |
T280I |
probably benign |
Het |
Tdo2 |
A |
G |
3: 81,868,775 (GRCm39) |
|
probably null |
Het |
Tpp1 |
T |
C |
7: 105,395,948 (GRCm39) |
N527S |
probably benign |
Het |
Trim43c |
A |
T |
9: 88,725,131 (GRCm39) |
T218S |
possibly damaging |
Het |
Trim45 |
G |
T |
3: 100,834,614 (GRCm39) |
M432I |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,115,782 (GRCm39) |
|
probably null |
Het |
Vat1l |
T |
C |
8: 115,009,101 (GRCm39) |
|
probably benign |
Het |
Xpo7 |
A |
T |
14: 70,904,524 (GRCm39) |
H1037Q |
possibly damaging |
Het |
Zmiz1 |
T |
C |
14: 25,658,520 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Fam13a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00265:Fam13a
|
APN |
6 |
58,923,111 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00467:Fam13a
|
APN |
6 |
58,917,098 (GRCm39) |
splice site |
probably benign |
|
IGL01288:Fam13a
|
APN |
6 |
58,933,712 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01503:Fam13a
|
APN |
6 |
58,933,065 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01532:Fam13a
|
APN |
6 |
58,917,280 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02197:Fam13a
|
APN |
6 |
58,912,586 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02206:Fam13a
|
APN |
6 |
58,964,204 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03189:Fam13a
|
APN |
6 |
58,933,843 (GRCm39) |
missense |
probably damaging |
0.99 |
BB009:Fam13a
|
UTSW |
6 |
58,960,873 (GRCm39) |
critical splice donor site |
probably null |
|
BB019:Fam13a
|
UTSW |
6 |
58,960,873 (GRCm39) |
critical splice donor site |
probably null |
|
R0361:Fam13a
|
UTSW |
6 |
58,964,159 (GRCm39) |
missense |
probably benign |
|
R0512:Fam13a
|
UTSW |
6 |
58,933,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R0801:Fam13a
|
UTSW |
6 |
58,960,997 (GRCm39) |
missense |
probably benign |
0.01 |
R1378:Fam13a
|
UTSW |
6 |
58,933,736 (GRCm39) |
missense |
probably benign |
0.04 |
R1535:Fam13a
|
UTSW |
6 |
58,916,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R1614:Fam13a
|
UTSW |
6 |
58,917,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R1663:Fam13a
|
UTSW |
6 |
58,931,357 (GRCm39) |
nonsense |
probably null |
|
R1809:Fam13a
|
UTSW |
6 |
58,942,045 (GRCm39) |
critical splice donor site |
probably null |
|
R1905:Fam13a
|
UTSW |
6 |
58,930,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R2568:Fam13a
|
UTSW |
6 |
58,912,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R3771:Fam13a
|
UTSW |
6 |
58,964,171 (GRCm39) |
missense |
probably benign |
0.11 |
R4654:Fam13a
|
UTSW |
6 |
58,964,152 (GRCm39) |
missense |
probably benign |
|
R5244:Fam13a
|
UTSW |
6 |
58,930,459 (GRCm39) |
nonsense |
probably null |
|
R5488:Fam13a
|
UTSW |
6 |
59,001,303 (GRCm39) |
missense |
probably null |
1.00 |
R5489:Fam13a
|
UTSW |
6 |
59,001,303 (GRCm39) |
missense |
probably null |
1.00 |
R5712:Fam13a
|
UTSW |
6 |
58,933,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R5729:Fam13a
|
UTSW |
6 |
58,916,292 (GRCm39) |
missense |
probably damaging |
0.99 |
R5969:Fam13a
|
UTSW |
6 |
58,942,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R6074:Fam13a
|
UTSW |
6 |
58,966,723 (GRCm39) |
splice site |
probably null |
|
R6275:Fam13a
|
UTSW |
6 |
58,931,242 (GRCm39) |
missense |
probably damaging |
0.98 |
R6306:Fam13a
|
UTSW |
6 |
58,917,239 (GRCm39) |
missense |
probably benign |
0.02 |
R6338:Fam13a
|
UTSW |
6 |
58,930,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R6603:Fam13a
|
UTSW |
6 |
58,964,174 (GRCm39) |
missense |
probably benign |
0.31 |
R7508:Fam13a
|
UTSW |
6 |
58,964,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Fam13a
|
UTSW |
6 |
58,932,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R7688:Fam13a
|
UTSW |
6 |
58,912,692 (GRCm39) |
missense |
probably benign |
0.05 |
R7728:Fam13a
|
UTSW |
6 |
58,931,284 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7932:Fam13a
|
UTSW |
6 |
58,960,873 (GRCm39) |
critical splice donor site |
probably null |
|
R8080:Fam13a
|
UTSW |
6 |
58,933,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R9494:Fam13a
|
UTSW |
6 |
58,930,508 (GRCm39) |
missense |
probably benign |
0.00 |
R9671:Fam13a
|
UTSW |
6 |
58,951,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTGCTTTGTGAGTACAGCTCC -3'
(R):5'- CCTCAAGTTGCATGGAACCTCCAG -3'
Sequencing Primer
(F):5'- TTGTGAGTACAGCTCCAAGGC -3'
(R):5'- GAAAAGAACCACTTTGCACTTGTC -3'
|
Posted On |
2014-01-29 |