Incidental Mutation 'IGL02475:Fam171a1'
| ID |
294894 |
| 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 # |
IGL02475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3224527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 293
(I293V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062934]
[ENSMUST00000072955]
[ENSMUST00000091505]
[ENSMUST00000115099]
|
| AlphaFold |
A2ATK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062934
AA Change: I293V
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: I293V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072955
AA Change: I173V
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: I173V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
1 |
765 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091505
|
| SMART Domains |
Protein: ENSMUSP00000089086
Gene: ENSMUSG00000050530
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:UPF0560
|
34 |
294 |
3.1e-146 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115099
AA Change: I298V
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: I298V
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,119,343 (GRCm39) |
|
probably benign |
Het |
| 5730409E04Rik |
A |
G |
4: 126,505,742 (GRCm39) |
E90G |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,039,849 (GRCm38) |
I27N |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,277 (GRCm39) |
E1230D |
probably benign |
Het |
| Bcl2l12 |
A |
G |
7: 44,646,317 (GRCm39) |
V31A |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,738,341 (GRCm39) |
R2501W |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,297,072 (GRCm39) |
|
probably null |
Het |
| Crcp |
T |
C |
5: 130,088,699 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
G |
A |
6: 53,670,909 (GRCm39) |
S304N |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,219,296 (GRCm39) |
D38G |
probably benign |
Het |
| Fbxw10 |
T |
C |
11: 62,748,561 (GRCm39) |
V396A |
possibly damaging |
Het |
| Gm10340 |
G |
A |
14: 14,832,274 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,544,310 (GRCm39) |
T344A |
probably benign |
Het |
| Itga7 |
T |
C |
10: 128,769,958 (GRCm39) |
F34S |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,353,936 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,182,831 (GRCm39) |
N1038K |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,426,493 (GRCm39) |
Y1636H |
probably damaging |
Het |
| Ngef |
G |
T |
1: 87,406,872 (GRCm39) |
T632K |
possibly damaging |
Het |
| Nme1nme2 |
A |
G |
11: 93,846,400 (GRCm39) |
V16A |
probably damaging |
Het |
| Nts |
A |
G |
10: 102,326,108 (GRCm39) |
|
probably benign |
Het |
| Olfml2b |
A |
G |
1: 170,509,743 (GRCm39) |
D697G |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,088 (GRCm39) |
H261Q |
probably benign |
Het |
| Or5m8 |
T |
C |
2: 85,822,376 (GRCm39) |
F72L |
probably benign |
Het |
| Or9i1 |
T |
A |
19: 13,839,663 (GRCm39) |
C169S |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,534,026 (GRCm39) |
R1428G |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,633 (GRCm39) |
S479P |
|
Het |
| Rnaseh2b |
T |
A |
14: 62,584,064 (GRCm39) |
F37I |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,683,801 (GRCm39) |
I1031N |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,987,151 (GRCm39) |
E344G |
probably benign |
Het |
| Scel |
A |
G |
14: 103,774,444 (GRCm39) |
R89G |
possibly damaging |
Het |
| Sirt4 |
T |
C |
5: 115,621,055 (GRCm39) |
E39G |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,331,334 (GRCm39) |
|
probably null |
Het |
| Snapc3 |
C |
A |
4: 83,368,333 (GRCm39) |
H277N |
probably benign |
Het |
| Susd2 |
A |
G |
10: 75,473,333 (GRCm39) |
|
probably null |
Het |
| Tagap1 |
T |
C |
17: 7,223,826 (GRCm39) |
Q290R |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,732,233 (GRCm39) |
|
probably benign |
Het |
| Tmem54 |
A |
T |
4: 129,002,073 (GRCm39) |
H40L |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,889,721 (GRCm39) |
S683P |
probably damaging |
Het |
| Tnpo2 |
A |
G |
8: 85,777,131 (GRCm39) |
D547G |
probably benign |
Het |
| Tpd52l2 |
G |
A |
2: 181,141,667 (GRCm39) |
V17M |
probably benign |
Het |
| Trip11 |
T |
A |
12: 101,861,942 (GRCm39) |
T208S |
probably benign |
Het |
| Ttc17 |
C |
A |
2: 94,194,721 (GRCm39) |
D551Y |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,471,302 (GRCm39) |
W222R |
probably damaging |
Het |
| Xkr8 |
A |
T |
4: 132,455,512 (GRCm39) |
I287N |
probably damaging |
Het |
| Zdhhc2 |
G |
T |
8: 40,926,066 (GRCm39) |
G354C |
probably null |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
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 |
|
IGL01317:Fam171a1
|
APN |
2 |
3,203,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Fam171a1
|
APN |
2 |
3,224,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation