Incidental Mutation 'IGL01138:Fam171a1'
| ID |
50602 |
| 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 # |
IGL01138
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3203657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 93
(V93A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062934]
[ENSMUST00000072955]
[ENSMUST00000091505]
[ENSMUST00000115099]
|
| AlphaFold |
A2ATK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062934
AA Change: V213A
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: V213A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072955
AA Change: V93A
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: V93A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
1 |
765 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091505
AA Change: V218A
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089086
Gene: ENSMUSG00000050530
AA Change: V218A
| 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: V218A
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: V218A
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
G |
13: 61,002,673 (GRCm39) |
V27A |
probably benign |
Het |
| Abcg5 |
T |
A |
17: 84,972,275 (GRCm39) |
R499S |
possibly damaging |
Het |
| Adamts13 |
T |
C |
2: 26,873,054 (GRCm39) |
S341P |
probably damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,730,085 (GRCm39) |
C96S |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,932,275 (GRCm39) |
F215S |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,020,039 (GRCm39) |
F400L |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,977,110 (GRCm39) |
E384G |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,335 (GRCm39) |
D1314G |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,735,232 (GRCm39) |
I806F |
probably damaging |
Het |
| Coro1c |
G |
A |
5: 113,990,222 (GRCm39) |
|
probably benign |
Het |
| Dnmt3b |
A |
T |
2: 153,503,361 (GRCm39) |
D4V |
probably benign |
Het |
| Ermn |
G |
T |
2: 57,942,707 (GRCm39) |
L8M |
possibly damaging |
Het |
| F13b |
T |
A |
1: 139,444,950 (GRCm39) |
N533K |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,062,028 (GRCm39) |
L152Q |
probably benign |
Het |
| Guca1a |
C |
A |
17: 47,711,309 (GRCm39) |
E12D |
probably damaging |
Het |
| Igtp |
A |
G |
11: 58,096,970 (GRCm39) |
N47S |
possibly damaging |
Het |
| Lratd2 |
T |
A |
15: 60,694,967 (GRCm39) |
I260F |
probably damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,284,084 (GRCm39) |
N103S |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,230,698 (GRCm39) |
L68P |
probably damaging |
Het |
| Maml3 |
A |
G |
3: 51,597,979 (GRCm39) |
S902P |
possibly damaging |
Het |
| Mkln1 |
A |
T |
6: 31,409,925 (GRCm39) |
N188Y |
probably damaging |
Het |
| Mlxip |
C |
T |
5: 123,588,219 (GRCm39) |
R771W |
probably damaging |
Het |
| Myf6 |
T |
C |
10: 107,330,259 (GRCm39) |
R103G |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,314,467 (GRCm39) |
I481K |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,343,970 (GRCm39) |
S645C |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,185,019 (GRCm39) |
E813* |
probably null |
Het |
| Or13c7c |
A |
G |
4: 43,835,617 (GRCm39) |
L291P |
probably damaging |
Het |
| Plekhg5 |
C |
T |
4: 152,191,435 (GRCm39) |
R410W |
probably damaging |
Het |
| Pnma8b |
C |
A |
7: 16,679,088 (GRCm39) |
T24K |
unknown |
Het |
| Polq |
A |
T |
16: 36,866,231 (GRCm39) |
Y476F |
possibly damaging |
Het |
| Prkd2 |
T |
C |
7: 16,582,736 (GRCm39) |
S200P |
probably damaging |
Het |
| Rif1 |
C |
A |
2: 52,001,534 (GRCm39) |
L1663I |
probably damaging |
Het |
| Serpina5 |
A |
G |
12: 104,070,003 (GRCm39) |
Y300C |
possibly damaging |
Het |
| Shroom4 |
T |
C |
X: 6,497,257 (GRCm39) |
S806P |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,472,085 (GRCm39) |
V290A |
probably damaging |
Het |
| Slc25a47 |
C |
T |
12: 108,821,948 (GRCm39) |
R246C |
probably damaging |
Het |
| Slc9a6 |
A |
G |
X: 55,668,791 (GRCm39) |
D199G |
probably damaging |
Het |
| Smarca5 |
T |
A |
8: 81,427,705 (GRCm39) |
K1048M |
possibly damaging |
Het |
| Sos2 |
C |
T |
12: 69,663,623 (GRCm39) |
|
probably benign |
Het |
| Trpm5 |
T |
A |
7: 142,628,306 (GRCm39) |
M990L |
probably benign |
Het |
| Vmn2r99 |
A |
T |
17: 19,602,885 (GRCm39) |
T547S |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,446,916 (GRCm39) |
|
probably benign |
Het |
| Zfp994 |
G |
A |
17: 22,421,649 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
2013-06-21 |
Incidental Mutation