Incidental Mutation 'R7688:Fam13a'
ID |
593201 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam13a
|
Ensembl Gene |
ENSMUSG00000037709 |
Gene Name |
family with sequence similarity 13, member A |
Synonyms |
D430015B01Rik |
MMRRC Submission |
045752-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7688 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
58910521-59001487 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 58912692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 654
(V654I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089860]
[ENSMUST00000173193]
|
AlphaFold |
Q8BGI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089860
AA Change: V654I
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000087304 Gene: ENSMUSG00000037709 AA Change: V654I
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: V626I
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000134135 Gene: ENSMUSG00000037709 AA Change: V626I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bag6 |
T |
C |
17: 35,365,868 (GRCm39) |
Y1102H |
probably damaging |
Het |
Cldn24 |
G |
A |
8: 48,275,740 (GRCm39) |
C188Y |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,713,377 (GRCm39) |
W443R |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,088,938 (GRCm39) |
C2806S |
probably benign |
Het |
Epb41l2 |
T |
C |
10: 25,355,036 (GRCm39) |
Y449H |
probably damaging |
Het |
Ets1 |
T |
A |
9: 32,607,720 (GRCm39) |
I14N |
probably benign |
Het |
F11 |
A |
T |
8: 45,703,127 (GRCm39) |
F188I |
probably damaging |
Het |
Flt1 |
C |
T |
5: 147,613,135 (GRCm39) |
V369I |
probably benign |
Het |
Focad |
T |
A |
4: 88,096,370 (GRCm39) |
Y251N |
probably damaging |
Het |
Gm5150 |
A |
G |
3: 16,017,747 (GRCm39) |
S175P |
probably benign |
Het |
Hnrnpul2 |
T |
A |
19: 8,797,994 (GRCm39) |
S117T |
probably benign |
Het |
Kcnj5 |
A |
G |
9: 32,234,264 (GRCm39) |
V17A |
probably benign |
Het |
Kctd1 |
T |
G |
18: 15,107,255 (GRCm39) |
T737P |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,422,392 (GRCm39) |
V894A |
probably damaging |
Het |
Klhl12 |
A |
T |
1: 134,416,768 (GRCm39) |
T497S |
probably benign |
Het |
Klhl6 |
C |
A |
16: 19,765,881 (GRCm39) |
V574L |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,068,623 (GRCm39) |
D774V |
|
Het |
Leng1 |
G |
A |
7: 3,665,809 (GRCm39) |
P176L |
probably benign |
Het |
Lig1 |
T |
C |
7: 13,023,389 (GRCm39) |
L196P |
probably benign |
Het |
Macrod1 |
C |
A |
19: 7,174,230 (GRCm39) |
Y245* |
probably null |
Het |
Mcf2l |
T |
A |
8: 12,998,130 (GRCm39) |
I6N |
possibly damaging |
Het |
Megf11 |
A |
G |
9: 64,599,146 (GRCm39) |
D687G |
possibly damaging |
Het |
Muc4 |
A |
T |
16: 32,570,278 (GRCm39) |
H446L |
possibly damaging |
Het |
Oasl2 |
A |
T |
5: 115,035,909 (GRCm39) |
I62F |
probably benign |
Het |
Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
Or14a257 |
A |
G |
7: 86,138,183 (GRCm39) |
V192A |
probably benign |
Het |
Or4b12 |
A |
T |
2: 90,095,959 (GRCm39) |
F272I |
probably damaging |
Het |
Or52e8 |
C |
A |
7: 104,624,332 (GRCm39) |
A291S |
possibly damaging |
Het |
Pdcl2 |
T |
C |
5: 76,465,770 (GRCm39) |
N150S |
probably benign |
Het |
Pfkfb3 |
A |
G |
2: 11,497,450 (GRCm39) |
Y54H |
probably damaging |
Het |
Rab25 |
A |
T |
3: 88,452,270 (GRCm39) |
|
probably null |
Het |
Slc22a18 |
G |
A |
7: 143,033,560 (GRCm39) |
G104S |
probably damaging |
Het |
Slc44a5 |
T |
A |
3: 153,679,437 (GRCm39) |
|
probably null |
Het |
Slc5a8 |
A |
G |
10: 88,757,561 (GRCm39) |
Y517C |
probably damaging |
Het |
Spata18 |
A |
G |
5: 73,809,005 (GRCm39) |
N26S |
probably benign |
Het |
Tas2r115 |
T |
A |
6: 132,714,643 (GRCm39) |
S103C |
probably damaging |
Het |
Tigd2 |
T |
A |
6: 59,187,382 (GRCm39) |
M83K |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,890,880 (GRCm39) |
C408S |
probably benign |
Het |
Trbj2-3 |
T |
A |
6: 41,520,159 (GRCm39) |
S1R |
possibly damaging |
Het |
Triobp |
T |
C |
15: 78,845,311 (GRCm39) |
|
probably null |
Het |
Uaca |
A |
G |
9: 60,781,409 (GRCm39) |
Q1349R |
probably benign |
Het |
Ube2j2 |
T |
A |
4: 156,040,885 (GRCm39) |
L171I |
probably damaging |
Het |
Usp17ld |
C |
A |
7: 102,899,982 (GRCm39) |
G317W |
probably damaging |
Het |
Vinac1 |
G |
A |
2: 128,880,964 (GRCm39) |
Q321* |
probably null |
Het |
Vmn2r72 |
T |
A |
7: 85,404,098 (GRCm39) |
D31V |
probably benign |
Het |
Zfp317 |
T |
G |
9: 19,559,251 (GRCm39) |
H488Q |
probably damaging |
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 |
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 |
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'- TGTGAGTACAGCTCCAAGGC -3'
(R):5'- CTCAAGTTGCATGGAACCTCC -3'
Sequencing Primer
(F):5'- TCCAAGGCTGCCTTCCAGAG -3'
(R):5'- CAGAAAAGAACCACTTTGCACTTGTC -3'
|
Posted On |
2019-11-12 |