Incidental Mutation 'R5865:Fam171a1'
ID |
454105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam171a1
|
Ensembl Gene |
ENSMUSG00000050530 |
Gene Name |
family with sequence similarity 171, member A1 |
Synonyms |
9630050M13Rik |
MMRRC Submission |
044074-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R5865 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3226374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 377
(D377E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072724
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062934]
[ENSMUST00000072955]
[ENSMUST00000091505]
[ENSMUST00000115099]
|
AlphaFold |
A2ATK9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062934
AA Change: D497E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000053619 Gene: ENSMUSG00000050530 AA Change: D497E
Domain | Start | End | E-Value | Type |
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072955
AA Change: D377E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000072724 Gene: ENSMUSG00000050530 AA Change: D377E
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: D502E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000110751 Gene: ENSMUSG00000050530 AA Change: D502E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:UPF0560
|
34 |
890 |
N/A |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.7%
- 20x: 88.7%
|
Validation Efficiency |
91% (59/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
G |
A |
3: 32,766,277 (GRCm39) |
V48M |
possibly damaging |
Het |
Adamts2 |
T |
G |
11: 50,694,781 (GRCm39) |
Y1189* |
probably null |
Het |
Bpifb9a |
T |
C |
2: 154,108,756 (GRCm39) |
I419T |
probably benign |
Het |
Ccbe1 |
A |
T |
18: 66,216,222 (GRCm39) |
I167N |
possibly damaging |
Het |
Ccdc187 |
T |
C |
2: 26,183,380 (GRCm39) |
T207A |
probably benign |
Het |
Cd300lf |
G |
A |
11: 115,017,126 (GRCm39) |
L66F |
probably damaging |
Het |
Cenpk |
A |
G |
13: 104,372,702 (GRCm39) |
*92W |
probably null |
Het |
Col12a1 |
A |
T |
9: 79,511,760 (GRCm39) |
S2950R |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,574,331 (GRCm39) |
T2154A |
probably benign |
Het |
Ebna1bp2 |
A |
T |
4: 118,478,332 (GRCm39) |
|
probably benign |
Het |
Elac2 |
G |
T |
11: 64,888,783 (GRCm39) |
C532F |
probably benign |
Het |
Haus6 |
A |
G |
4: 86,504,594 (GRCm39) |
C466R |
possibly damaging |
Het |
Il4ra |
T |
C |
7: 125,174,348 (GRCm39) |
S297P |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
Kank4 |
T |
C |
4: 98,659,630 (GRCm39) |
Y816C |
possibly damaging |
Het |
Kcnc4 |
A |
T |
3: 107,365,515 (GRCm39) |
|
probably null |
Het |
Kif21b |
C |
T |
1: 136,078,875 (GRCm39) |
R408* |
probably null |
Het |
Lrrc31 |
A |
G |
3: 30,733,289 (GRCm39) |
V475A |
probably benign |
Het |
Map2k1 |
C |
T |
9: 64,098,548 (GRCm39) |
|
probably null |
Het |
Mc3r |
T |
A |
2: 172,091,592 (GRCm39) |
N271K |
possibly damaging |
Het |
Ms4a14 |
A |
G |
19: 11,281,581 (GRCm39) |
S326P |
possibly damaging |
Het |
Muc6 |
T |
A |
7: 141,236,769 (GRCm39) |
I358F |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,204,770 (GRCm39) |
D1541G |
probably damaging |
Het |
Myof |
T |
C |
19: 37,899,382 (GRCm39) |
S1793G |
probably damaging |
Het |
Nfkb1 |
T |
A |
3: 135,309,541 (GRCm39) |
T518S |
probably damaging |
Het |
Nphs1 |
T |
A |
7: 30,173,810 (GRCm39) |
I989N |
probably damaging |
Het |
Or5m12 |
T |
C |
2: 85,734,865 (GRCm39) |
T178A |
probably benign |
Het |
Pcdha5 |
T |
C |
18: 37,094,474 (GRCm39) |
F328L |
probably benign |
Het |
Pclo |
T |
A |
5: 14,764,492 (GRCm39) |
S4322T |
probably benign |
Het |
Peg10 |
A |
G |
6: 4,754,375 (GRCm39) |
N52S |
probably damaging |
Het |
Phf10 |
A |
C |
17: 15,175,272 (GRCm39) |
|
probably benign |
Het |
Pip4p1 |
A |
G |
14: 51,166,332 (GRCm39) |
|
probably benign |
Het |
Psme4 |
T |
C |
11: 30,741,993 (GRCm39) |
I152T |
possibly damaging |
Het |
Ptpn18 |
T |
A |
1: 34,510,644 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
A |
T |
1: 74,185,914 (GRCm39) |
Y527F |
probably damaging |
Het |
Snx32 |
T |
C |
19: 5,546,382 (GRCm39) |
M293V |
probably benign |
Het |
Sorl1 |
A |
T |
9: 41,894,330 (GRCm39) |
L1827M |
possibly damaging |
Het |
Sstr5 |
T |
A |
17: 25,710,218 (GRCm39) |
D337V |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,573,631 (GRCm39) |
F194L |
probably benign |
Het |
Tcerg1 |
T |
A |
18: 42,669,413 (GRCm39) |
W459R |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,192,860 (GRCm39) |
I525L |
probably benign |
Het |
Trim43b |
C |
T |
9: 88,967,659 (GRCm39) |
V325I |
probably benign |
Het |
Txndc11 |
A |
T |
16: 10,940,552 (GRCm39) |
I180K |
probably damaging |
Het |
Vmn1r193 |
A |
G |
13: 22,403,395 (GRCm39) |
L199P |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,804,557 (GRCm39) |
M121T |
probably benign |
Het |
Zfhx4 |
G |
C |
3: 5,467,719 (GRCm39) |
A2626P |
probably damaging |
Het |
Zfp445 |
C |
T |
9: 122,682,552 (GRCm39) |
S463N |
probably benign |
Het |
Zwilch |
T |
A |
9: 64,080,190 (GRCm39) |
|
probably null |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCTGTCCCACAAAGAAGAGG -3'
(R):5'- ACTACAGCAGATCAACTGGC -3'
Sequencing Primer
(F):5'- GAGGATAAAAGCCAAACATCTTTTG -3'
(R):5'- AGCAGATCAACTGGCCTGGC -3'
|
Posted On |
2017-02-10 |