Incidental Mutation 'R9251:Fam171a1'
ID |
701526 |
Institutional Source |
Beutler Lab
|
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 # |
R9251 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3226525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 553
(S553P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062934]
[ENSMUST00000072955]
[ENSMUST00000091505]
[ENSMUST00000115099]
|
AlphaFold |
A2ATK9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062934
AA Change: S548P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000053619 Gene: ENSMUSG00000050530 AA Change: S548P
Domain | Start | End | E-Value | Type |
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072955
AA Change: S428P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000072724 Gene: ENSMUSG00000050530 AA Change: S428P
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: S553P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000110751 Gene: ENSMUSG00000050530 AA Change: S553P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:UPF0560
|
34 |
890 |
N/A |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap31 |
G |
T |
16: 38,423,218 (GRCm39) |
N949K |
probably benign |
Het |
Arv1 |
T |
A |
8: 125,452,062 (GRCm39) |
I76N |
probably damaging |
Het |
Cfap44 |
G |
A |
16: 44,229,276 (GRCm39) |
A189T |
probably damaging |
Het |
Ch25h |
T |
C |
19: 34,451,769 (GRCm39) |
Y253C |
probably damaging |
Het |
Cnot11 |
T |
C |
1: 39,581,587 (GRCm39) |
M376T |
probably damaging |
Het |
Cnot7 |
T |
C |
8: 40,964,622 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
G |
A |
11: 118,012,618 (GRCm39) |
S481F |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,406,619 (GRCm39) |
R541Q |
probably damaging |
Het |
Dnah7a |
C |
T |
1: 53,621,671 (GRCm39) |
M1151I |
probably damaging |
Het |
Dpf2 |
T |
C |
19: 5,957,166 (GRCm39) |
D19G |
probably damaging |
Het |
Eefsec |
A |
T |
6: 88,332,574 (GRCm39) |
M212K |
probably damaging |
Het |
Elp6 |
G |
A |
9: 110,134,666 (GRCm39) |
V12I |
unknown |
Het |
Enox1 |
G |
A |
14: 77,852,997 (GRCm39) |
|
probably null |
Het |
Epha1 |
G |
T |
6: 42,341,777 (GRCm39) |
N424K |
probably damaging |
Het |
Fbxw21 |
A |
G |
9: 108,974,687 (GRCm39) |
S278P |
probably damaging |
Het |
Gm45861 |
T |
C |
8: 28,032,589 (GRCm39) |
|
probably null |
Het |
Gm4846 |
T |
A |
1: 166,311,307 (GRCm39) |
R517S |
probably benign |
Het |
Gnrhr |
A |
G |
5: 86,345,221 (GRCm39) |
L155P |
possibly damaging |
Het |
Igfn1 |
C |
T |
1: 135,894,409 (GRCm39) |
|
probably benign |
Het |
Ik |
T |
A |
18: 36,880,495 (GRCm39) |
|
probably null |
Het |
Insrr |
A |
T |
3: 87,717,391 (GRCm39) |
Q763L |
probably benign |
Het |
Klf5 |
G |
T |
14: 99,538,824 (GRCm39) |
C79F |
possibly damaging |
Het |
Lrrcc1 |
A |
T |
3: 14,623,454 (GRCm39) |
R760S |
probably damaging |
Het |
Map3k7 |
T |
A |
4: 32,002,080 (GRCm39) |
|
probably benign |
Het |
Mapkbp1 |
C |
T |
2: 119,853,671 (GRCm39) |
A1159V |
probably benign |
Het |
Mgst3 |
C |
T |
1: 167,205,860 (GRCm39) |
|
probably null |
Het |
Mtch2 |
T |
A |
2: 90,679,980 (GRCm39) |
F71I |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,276,076 (GRCm39) |
I764V |
probably benign |
Het |
Myo3b |
T |
A |
2: 70,088,425 (GRCm39) |
L896* |
probably null |
Het |
Ndufs5 |
T |
G |
4: 123,606,628 (GRCm39) |
E103A |
probably benign |
Het |
Nfe2l1 |
G |
A |
11: 96,710,421 (GRCm39) |
P603S |
probably damaging |
Het |
Or6c211 |
T |
A |
10: 129,505,980 (GRCm39) |
N136I |
possibly damaging |
Het |
Or8g34 |
A |
T |
9: 39,373,668 (GRCm39) |
M311L |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,219,354 (GRCm39) |
N1093S |
|
Het |
Pitpnb |
G |
A |
5: 111,533,390 (GRCm39) |
R258H |
probably benign |
Het |
Pla2g4d |
T |
C |
2: 120,099,378 (GRCm39) |
E708G |
possibly damaging |
Het |
Plppr4 |
T |
A |
3: 117,115,608 (GRCm39) |
T750S |
probably benign |
Het |
Prrg4 |
T |
G |
2: 104,675,399 (GRCm39) |
E68A |
probably damaging |
Het |
Rcan2 |
C |
T |
17: 44,328,701 (GRCm39) |
T90M |
possibly damaging |
Het |
Rlbp1 |
T |
C |
7: 79,027,093 (GRCm39) |
E189G |
probably damaging |
Het |
Satb1 |
A |
G |
17: 52,112,293 (GRCm39) |
F107S |
probably damaging |
Het |
Sdc3 |
A |
T |
4: 130,548,513 (GRCm39) |
|
probably benign |
Het |
Slc22a3 |
A |
T |
17: 12,726,093 (GRCm39) |
V40D |
probably damaging |
Het |
Slc35d1 |
A |
G |
4: 103,048,027 (GRCm39) |
|
probably null |
Het |
Slfn1 |
T |
C |
11: 83,012,121 (GRCm39) |
F79S |
probably damaging |
Het |
Snrpg |
G |
T |
6: 86,353,557 (GRCm39) |
V46L |
probably benign |
Het |
Tbl1xr1 |
G |
A |
3: 22,264,569 (GRCm39) |
C508Y |
probably benign |
Het |
Thada |
A |
T |
17: 84,538,564 (GRCm39) |
D1481E |
probably benign |
Het |
Tnfsf8 |
A |
G |
4: 63,779,217 (GRCm39) |
V27A |
probably benign |
Het |
Tns1 |
T |
C |
1: 74,030,855 (GRCm39) |
H300R |
probably damaging |
Het |
Ttc13 |
C |
A |
8: 125,401,992 (GRCm39) |
G589V |
probably benign |
Het |
Ttc28 |
A |
G |
5: 111,040,698 (GRCm39) |
I29V |
possibly damaging |
Het |
Tubb4a |
T |
A |
17: 57,387,778 (GRCm39) |
N416I |
possibly damaging |
Het |
Ubr4 |
T |
A |
4: 139,177,636 (GRCm39) |
I1884N |
|
Het |
Usp16 |
A |
G |
16: 87,266,640 (GRCm39) |
K175E |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,217,715 (GRCm39) |
I479M |
probably benign |
Het |
Utrn |
T |
C |
10: 12,512,531 (GRCm39) |
T2313A |
probably benign |
Het |
Ythdc2 |
T |
C |
18: 44,974,442 (GRCm39) |
V368A |
probably benign |
Het |
Zfp628 |
T |
C |
7: 4,923,880 (GRCm39) |
S701P |
probably damaging |
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 |
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 |
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'- CTGGCAATGATGACTACAGAGG -3'
(R):5'- GGAGCCTTCCTATTTCCAGCTG -3'
Sequencing Primer
(F):5'- GAGGTAGTTACAATACCGTGCTCTC -3'
(R):5'- GGCAGGCAATACTTTCCT -3'
|
Posted On |
2022-03-25 |