Incidental Mutation 'R0801:Fam13a'
ID |
76275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam13a
|
Ensembl Gene |
ENSMUSG00000037709 |
Gene Name |
family with sequence similarity 13, member A |
Synonyms |
D430015B01Rik |
MMRRC Submission |
038981-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0801 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
58910521-59001487 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 58960997 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 118
(N118K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089860]
[ENSMUST00000173193]
|
AlphaFold |
Q8BGI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089860
AA Change: N118K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000087304 Gene: ENSMUSG00000037709 AA Change: N118K
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
AA Change: N118K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000134135 Gene: ENSMUSG00000037709 AA Change: N118K
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173712
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173978
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.6%
- 20x: 94.7%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030612E09Rik |
A |
G |
10: 43,050,987 (GRCm39) |
K94E |
possibly damaging |
Het |
Aldh16a1 |
A |
T |
7: 44,796,900 (GRCm39) |
C228S |
probably benign |
Het |
Arnt |
G |
T |
3: 95,401,157 (GRCm39) |
R702L |
possibly damaging |
Het |
Ccdc174 |
A |
G |
6: 91,872,313 (GRCm39) |
E314G |
possibly damaging |
Het |
Ccdc81 |
T |
C |
7: 89,536,866 (GRCm39) |
|
probably null |
Het |
Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
Cenpm |
A |
T |
15: 82,118,667 (GRCm39) |
I149N |
probably benign |
Het |
Cfap44 |
C |
T |
16: 44,242,849 (GRCm39) |
S751L |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,065,107 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
A |
G |
6: 4,531,316 (GRCm39) |
T762A |
unknown |
Het |
Crebbp |
T |
C |
16: 3,906,140 (GRCm39) |
K1621E |
probably damaging |
Het |
Cux1 |
T |
A |
5: 136,355,783 (GRCm39) |
I374L |
probably damaging |
Het |
Dgkq |
A |
T |
5: 108,808,586 (GRCm39) |
|
probably null |
Het |
Dis3l |
T |
C |
9: 64,226,436 (GRCm39) |
I365V |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,599,620 (GRCm39) |
R320G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,209,470 (GRCm39) |
N853S |
probably damaging |
Het |
Egf |
T |
C |
3: 129,496,234 (GRCm39) |
|
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,173,778 (GRCm39) |
R267* |
probably null |
Het |
Ern2 |
A |
G |
7: 121,780,085 (GRCm39) |
|
probably benign |
Het |
Ero1b |
A |
G |
13: 12,596,568 (GRCm39) |
S123G |
probably benign |
Het |
Gcn1 |
T |
A |
5: 115,729,065 (GRCm39) |
M792K |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Irf3 |
C |
T |
7: 44,650,058 (GRCm39) |
|
probably benign |
Het |
Map2k5 |
T |
A |
9: 63,265,261 (GRCm39) |
|
probably benign |
Het |
Mcf2l |
T |
A |
8: 13,064,020 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
T |
12: 66,533,507 (GRCm39) |
I878K |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,668,895 (GRCm39) |
S318P |
probably benign |
Het |
Or13a19 |
G |
A |
7: 139,902,831 (GRCm39) |
C73Y |
probably damaging |
Het |
Or5aq1b |
G |
A |
2: 86,902,407 (GRCm39) |
Q24* |
probably null |
Het |
Pklr |
G |
A |
3: 89,052,829 (GRCm39) |
W527* |
probably null |
Het |
Pnpla5 |
T |
C |
15: 83,998,121 (GRCm39) |
M374V |
probably benign |
Het |
Ptprn |
G |
T |
1: 75,228,909 (GRCm39) |
H835Q |
probably damaging |
Het |
R3hdm4 |
A |
G |
10: 79,749,191 (GRCm39) |
|
probably benign |
Het |
Rgs8 |
T |
A |
1: 153,546,557 (GRCm39) |
C19S |
probably damaging |
Het |
Smarca4 |
C |
A |
9: 21,553,850 (GRCm39) |
Q575K |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,643,780 (GRCm39) |
F612L |
probably damaging |
Het |
Svil |
A |
G |
18: 5,099,443 (GRCm39) |
R1256G |
probably benign |
Het |
Tox4 |
T |
C |
14: 52,517,335 (GRCm39) |
S22P |
probably benign |
Het |
Ttc39d |
A |
G |
17: 80,523,644 (GRCm39) |
Y101C |
probably damaging |
Het |
Usb1 |
T |
C |
8: 96,060,168 (GRCm39) |
|
probably null |
Het |
Vps13a |
T |
C |
19: 16,664,020 (GRCm39) |
|
probably benign |
Het |
Vps26a |
G |
A |
10: 62,294,857 (GRCm39) |
|
probably benign |
Het |
Zfp638 |
T |
A |
6: 83,949,220 (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 |
R1222:Fam13a
|
UTSW |
6 |
58,912,707 (GRCm39) |
splice site |
probably benign |
|
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'- GCTCTTTGGGCAAAATGTCTGTCAC -3'
(R):5'- GGTTCGGGAGTTACACTAACTCAGC -3'
Sequencing Primer
(F):5'- GGGCAAAATGTCTGTCACAGTTC -3'
(R):5'- ACTAACTCAGCTACGGTGTG -3'
|
Posted On |
2013-10-16 |