Incidental Mutation 'IGL01317:Fam171a1'
ID |
73876 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam171a1
|
Ensembl Gene |
ENSMUSG00000050530 |
Gene Name |
family with sequence similarity 171, member A1 |
Synonyms |
9630050M13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
IGL01317
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3203663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 215
(V215E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062934]
[ENSMUST00000072955]
[ENSMUST00000091505]
[ENSMUST00000115099]
|
AlphaFold |
A2ATK9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062934
AA Change: V215E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000053619 Gene: ENSMUSG00000050530 AA Change: V215E
Domain | Start | End | E-Value | Type |
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072955
AA Change: V95E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072724 Gene: ENSMUSG00000050530 AA Change: V95E
Domain | Start | End | E-Value | Type |
Pfam:UPF0560
|
1 |
765 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091505
AA Change: V220E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089086 Gene: ENSMUSG00000050530 AA Change: V220E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:UPF0560
|
34 |
294 |
3.1e-146 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115099
AA Change: V220E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000110751 Gene: ENSMUSG00000050530 AA Change: V220E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:UPF0560
|
34 |
890 |
N/A |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,362,597 (GRCm39) |
D609E |
probably damaging |
Het |
Aldh3b1 |
T |
C |
19: 3,968,104 (GRCm39) |
I352V |
probably benign |
Het |
Apeh |
A |
T |
9: 107,963,406 (GRCm39) |
S605R |
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,168,260 (GRCm39) |
K748E |
probably benign |
Het |
Avpr1a |
T |
C |
10: 122,285,472 (GRCm39) |
S255P |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,314,172 (GRCm39) |
D1124V |
possibly damaging |
Het |
Cask |
C |
T |
X: 13,388,499 (GRCm39) |
E83K |
probably damaging |
Het |
Cep170b |
A |
G |
12: 112,704,078 (GRCm39) |
Y670C |
probably damaging |
Het |
Chd3 |
A |
G |
11: 69,244,037 (GRCm39) |
Y1343H |
probably damaging |
Het |
Cit |
T |
A |
5: 116,046,775 (GRCm39) |
V396D |
probably benign |
Het |
Cldn18 |
T |
C |
9: 99,578,135 (GRCm39) |
T203A |
probably benign |
Het |
Dido1 |
A |
C |
2: 180,313,550 (GRCm39) |
N907K |
probably benign |
Het |
Dmbt1 |
T |
A |
7: 130,642,921 (GRCm39) |
D246E |
probably damaging |
Het |
Dph1 |
T |
C |
11: 75,071,486 (GRCm39) |
H303R |
probably benign |
Het |
Dspp |
T |
A |
5: 104,321,914 (GRCm39) |
Y8N |
probably damaging |
Het |
Efhc2 |
C |
T |
X: 17,071,198 (GRCm39) |
|
probably benign |
Het |
Fhip1a |
T |
C |
3: 85,580,153 (GRCm39) |
D684G |
probably benign |
Het |
Foxm1 |
T |
A |
6: 128,344,316 (GRCm39) |
M22K |
probably damaging |
Het |
Gdpd4 |
A |
C |
7: 97,647,465 (GRCm39) |
M371L |
possibly damaging |
Het |
Hdac9 |
T |
C |
12: 34,479,488 (GRCm39) |
|
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,413,908 (GRCm39) |
W162R |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,053,078 (GRCm39) |
D250V |
probably damaging |
Het |
Itga4 |
T |
A |
2: 79,153,005 (GRCm39) |
C897* |
probably null |
Het |
Itprid1 |
G |
T |
6: 55,944,790 (GRCm39) |
A504S |
possibly damaging |
Het |
Kcnd2 |
T |
C |
6: 21,727,339 (GRCm39) |
*631Q |
probably null |
Het |
Kcnn2 |
A |
G |
18: 45,693,694 (GRCm39) |
|
probably null |
Het |
Lama1 |
A |
T |
17: 68,125,696 (GRCm39) |
E2951V |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,845,455 (GRCm39) |
Q1944R |
probably benign |
Het |
Mmp14 |
A |
G |
14: 54,673,247 (GRCm39) |
T52A |
possibly damaging |
Het |
Mrgpra1 |
A |
T |
7: 46,985,372 (GRCm39) |
N102K |
probably benign |
Het |
Mrpl28 |
G |
A |
17: 26,344,489 (GRCm39) |
G205D |
probably damaging |
Het |
Mtmr4 |
T |
C |
11: 87,493,230 (GRCm39) |
|
probably benign |
Het |
Oog2 |
A |
G |
4: 143,921,837 (GRCm39) |
N249S |
probably benign |
Het |
Or4f57 |
T |
A |
2: 111,790,620 (GRCm39) |
H266L |
possibly damaging |
Het |
Ppp6r2 |
T |
A |
15: 89,170,131 (GRCm39) |
V882E |
possibly damaging |
Het |
Qser1 |
A |
C |
2: 104,617,324 (GRCm39) |
Y1073D |
probably damaging |
Het |
Rbl2 |
C |
A |
8: 91,826,685 (GRCm39) |
D480E |
probably damaging |
Het |
Rfx7 |
G |
A |
9: 72,525,818 (GRCm39) |
G1003S |
probably damaging |
Het |
Rrh |
A |
C |
3: 129,616,074 (GRCm39) |
F20V |
possibly damaging |
Het |
Rwdd3 |
A |
G |
3: 120,965,282 (GRCm39) |
I15T |
possibly damaging |
Het |
Sestd1 |
A |
T |
2: 77,022,889 (GRCm39) |
M493K |
possibly damaging |
Het |
Slc17a8 |
T |
A |
10: 89,456,666 (GRCm39) |
L32F |
probably benign |
Het |
Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
Tbc1d10a |
A |
T |
11: 4,162,826 (GRCm39) |
Y223F |
probably benign |
Het |
Tbx20 |
A |
G |
9: 24,681,051 (GRCm39) |
V147A |
probably damaging |
Het |
Tmem63c |
A |
T |
12: 87,118,770 (GRCm39) |
|
probably benign |
Het |
Tmtc2 |
C |
A |
10: 105,249,646 (GRCm39) |
R29L |
probably damaging |
Het |
Ttc21b |
T |
A |
2: 66,018,700 (GRCm39) |
M1236L |
probably benign |
Het |
Unc119 |
T |
A |
11: 78,238,052 (GRCm39) |
C12S |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,839,787 (GRCm39) |
M1919T |
probably benign |
Het |
Zmat4 |
C |
A |
8: 24,392,185 (GRCm39) |
T47K |
probably benign |
Het |
|
Other mutations in Fam171a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00953:Fam171a1
|
APN |
2 |
3,179,327 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01138:Fam171a1
|
APN |
2 |
3,203,657 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02377:Fam171a1
|
APN |
2 |
3,224,623 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02475:Fam171a1
|
APN |
2 |
3,224,527 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02477:Fam171a1
|
APN |
2 |
3,203,612 (GRCm39) |
missense |
possibly damaging |
0.83 |
ghosted
|
UTSW |
2 |
3,226,189 (GRCm39) |
nonsense |
probably null |
|
R0167:Fam171a1
|
UTSW |
2 |
3,187,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R0426:Fam171a1
|
UTSW |
2 |
3,226,433 (GRCm39) |
missense |
probably benign |
|
R0468:Fam171a1
|
UTSW |
2 |
3,226,433 (GRCm39) |
missense |
probably benign |
|
R0811:Fam171a1
|
UTSW |
2 |
3,198,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R0812:Fam171a1
|
UTSW |
2 |
3,198,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R1099:Fam171a1
|
UTSW |
2 |
3,226,354 (GRCm39) |
missense |
probably benign |
0.24 |
R1694:Fam171a1
|
UTSW |
2 |
3,226,660 (GRCm39) |
missense |
probably benign |
0.00 |
R1817:Fam171a1
|
UTSW |
2 |
3,179,410 (GRCm39) |
missense |
probably benign |
0.04 |
R1869:Fam171a1
|
UTSW |
2 |
3,227,189 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1887:Fam171a1
|
UTSW |
2 |
3,221,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R2173:Fam171a1
|
UTSW |
2 |
3,226,656 (GRCm39) |
nonsense |
probably null |
|
R2355:Fam171a1
|
UTSW |
2 |
3,226,570 (GRCm39) |
nonsense |
probably null |
|
R3690:Fam171a1
|
UTSW |
2 |
3,227,393 (GRCm39) |
missense |
probably benign |
|
R3723:Fam171a1
|
UTSW |
2 |
3,221,412 (GRCm39) |
splice site |
probably benign |
|
R3978:Fam171a1
|
UTSW |
2 |
3,226,072 (GRCm39) |
missense |
probably benign |
|
R4087:Fam171a1
|
UTSW |
2 |
3,227,333 (GRCm39) |
missense |
probably damaging |
0.97 |
R4647:Fam171a1
|
UTSW |
2 |
3,221,328 (GRCm39) |
missense |
probably damaging |
0.98 |
R4744:Fam171a1
|
UTSW |
2 |
3,225,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R4777:Fam171a1
|
UTSW |
2 |
3,224,550 (GRCm39) |
missense |
probably benign |
0.03 |
R4786:Fam171a1
|
UTSW |
2 |
3,226,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R4888:Fam171a1
|
UTSW |
2 |
3,224,546 (GRCm39) |
missense |
probably damaging |
0.98 |
R4982:Fam171a1
|
UTSW |
2 |
3,179,505 (GRCm39) |
splice site |
probably null |
|
R5137:Fam171a1
|
UTSW |
2 |
3,226,426 (GRCm39) |
missense |
probably benign |
0.01 |
R5203:Fam171a1
|
UTSW |
2 |
3,224,582 (GRCm39) |
missense |
probably damaging |
0.99 |
R5233:Fam171a1
|
UTSW |
2 |
3,179,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R5304:Fam171a1
|
UTSW |
2 |
3,226,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R5475:Fam171a1
|
UTSW |
2 |
3,226,334 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5682:Fam171a1
|
UTSW |
2 |
3,227,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R5865:Fam171a1
|
UTSW |
2 |
3,226,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6322:Fam171a1
|
UTSW |
2 |
3,227,392 (GRCm39) |
missense |
probably benign |
0.24 |
R7082:Fam171a1
|
UTSW |
2 |
3,224,512 (GRCm39) |
missense |
probably benign |
0.00 |
R7141:Fam171a1
|
UTSW |
2 |
3,226,189 (GRCm39) |
nonsense |
probably null |
|
R7155:Fam171a1
|
UTSW |
2 |
3,226,766 (GRCm39) |
missense |
probably benign |
0.10 |
R7243:Fam171a1
|
UTSW |
2 |
3,119,653 (GRCm39) |
missense |
probably benign |
0.07 |
R7326:Fam171a1
|
UTSW |
2 |
3,227,509 (GRCm39) |
nonsense |
probably null |
|
R7477:Fam171a1
|
UTSW |
2 |
3,226,676 (GRCm39) |
missense |
probably benign |
0.03 |
R7574:Fam171a1
|
UTSW |
2 |
3,221,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R7745:Fam171a1
|
UTSW |
2 |
3,226,483 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7753:Fam171a1
|
UTSW |
2 |
3,179,354 (GRCm39) |
missense |
probably damaging |
0.98 |
R7871:Fam171a1
|
UTSW |
2 |
3,226,421 (GRCm39) |
missense |
probably benign |
0.12 |
R7958:Fam171a1
|
UTSW |
2 |
3,179,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R8677:Fam171a1
|
UTSW |
2 |
3,221,352 (GRCm39) |
missense |
probably damaging |
0.98 |
R8793:Fam171a1
|
UTSW |
2 |
3,187,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R8850:Fam171a1
|
UTSW |
2 |
3,221,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R8865:Fam171a1
|
UTSW |
2 |
3,226,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Fam171a1
|
UTSW |
2 |
3,227,434 (GRCm39) |
missense |
probably benign |
0.43 |
R9090:Fam171a1
|
UTSW |
2 |
3,224,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R9251:Fam171a1
|
UTSW |
2 |
3,226,525 (GRCm39) |
missense |
probably benign |
0.06 |
R9271:Fam171a1
|
UTSW |
2 |
3,224,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R9350:Fam171a1
|
UTSW |
2 |
3,226,037 (GRCm39) |
missense |
probably benign |
0.12 |
X0019:Fam171a1
|
UTSW |
2 |
3,226,630 (GRCm39) |
missense |
probably benign |
0.19 |
Z1177:Fam171a1
|
UTSW |
2 |
3,225,971 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Posted On |
2013-10-07 |