Incidental Mutation 'IGL02377:Fam171a1'
ID |
291201 |
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: 0.130)
|
Stock # |
IGL02377
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 3224623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062934]
[ENSMUST00000072955]
[ENSMUST00000091505]
[ENSMUST00000115099]
|
AlphaFold |
A2ATK9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000062934
|
SMART Domains |
Protein: ENSMUSP00000053619 Gene: ENSMUSG00000050530
Domain | Start | End | E-Value | Type |
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000072955
|
SMART Domains |
Protein: ENSMUSP00000072724 Gene: ENSMUSG00000050530
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 null
Transcript: ENSMUST00000115099
|
SMART Domains |
Protein: ENSMUSP00000110751 Gene: ENSMUSG00000050530
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
T |
11: 119,937,689 (GRCm39) |
|
probably benign |
Het |
Abca15 |
T |
C |
7: 119,965,133 (GRCm39) |
|
probably benign |
Het |
App |
T |
C |
16: 84,879,719 (GRCm39) |
Q138R |
probably benign |
Het |
Asah2 |
T |
A |
19: 31,986,814 (GRCm39) |
I529F |
probably benign |
Het |
Atp8b3 |
A |
G |
10: 80,356,128 (GRCm39) |
S1195P |
probably benign |
Het |
Brca1 |
A |
G |
11: 101,415,149 (GRCm39) |
M134T |
probably benign |
Het |
Cacna1s |
T |
C |
1: 135,996,732 (GRCm39) |
L111P |
probably damaging |
Het |
Capns2 |
A |
T |
8: 93,628,215 (GRCm39) |
N35Y |
probably benign |
Het |
Ccne1 |
A |
G |
7: 37,798,415 (GRCm39) |
|
probably null |
Het |
Cfap91 |
G |
T |
16: 38,153,181 (GRCm39) |
|
probably benign |
Het |
Csf1r |
G |
T |
18: 61,257,540 (GRCm39) |
|
probably benign |
Het |
Dipk2b |
T |
A |
X: 18,313,930 (GRCm39) |
I131F |
possibly damaging |
Het |
Dlg3 |
A |
T |
X: 99,817,007 (GRCm39) |
Y326F |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 31,013,770 (GRCm39) |
V3837A |
probably damaging |
Het |
Dock10 |
A |
G |
1: 80,562,711 (GRCm39) |
|
probably null |
Het |
Emg1 |
A |
G |
6: 124,681,620 (GRCm39) |
V208A |
probably benign |
Het |
Eml6 |
T |
A |
11: 29,727,282 (GRCm39) |
D1280V |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,868,691 (GRCm39) |
D911G |
unknown |
Het |
Fcgbp |
T |
C |
7: 27,806,395 (GRCm39) |
V2121A |
possibly damaging |
Het |
Fggy |
G |
A |
4: 95,511,714 (GRCm39) |
|
probably benign |
Het |
Fignl1 |
G |
T |
11: 11,752,845 (GRCm39) |
T70K |
possibly damaging |
Het |
Fndc3b |
T |
C |
3: 27,674,801 (GRCm39) |
E47G |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,539,385 (GRCm39) |
K189E |
possibly damaging |
Het |
Hpse |
T |
A |
5: 100,839,199 (GRCm39) |
Y383F |
probably damaging |
Het |
Ip6k2 |
T |
C |
9: 108,681,798 (GRCm39) |
L197P |
probably damaging |
Het |
Klf1 |
A |
C |
8: 85,631,561 (GRCm39) |
H375P |
probably damaging |
Het |
Krtap6-5 |
T |
A |
16: 88,844,734 (GRCm39) |
|
probably benign |
Het |
Lacc1 |
A |
T |
14: 77,267,055 (GRCm39) |
S403T |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,689,807 (GRCm39) |
I2850V |
possibly damaging |
Het |
Lats2 |
C |
T |
14: 57,929,052 (GRCm39) |
R941Q |
probably damaging |
Het |
Lgals3bp |
A |
T |
11: 118,284,290 (GRCm39) |
Y430N |
probably benign |
Het |
Lrig3 |
A |
T |
10: 125,850,743 (GRCm39) |
H1103L |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,742,365 (GRCm39) |
M1I |
probably null |
Het |
Magee2 |
A |
T |
X: 103,900,399 (GRCm39) |
V84D |
possibly damaging |
Het |
Msantd2 |
G |
A |
9: 37,434,602 (GRCm39) |
V281I |
possibly damaging |
Het |
Mycbpap |
A |
G |
11: 94,394,076 (GRCm39) |
V340A |
probably damaging |
Het |
Myh6 |
A |
T |
14: 55,181,775 (GRCm39) |
M1842K |
probably benign |
Het |
Mylk4 |
T |
C |
13: 32,906,130 (GRCm39) |
D145G |
possibly damaging |
Het |
Nfkbid |
C |
T |
7: 30,124,689 (GRCm39) |
Q160* |
probably null |
Het |
Or11h6 |
T |
A |
14: 50,879,975 (GRCm39) |
|
probably null |
Het |
Or2y1d |
A |
T |
11: 49,321,859 (GRCm39) |
K185N |
probably damaging |
Het |
Or5w1b |
T |
A |
2: 87,475,630 (GRCm39) |
Y279F |
probably damaging |
Het |
Or7e168 |
C |
T |
9: 19,720,343 (GRCm39) |
S243F |
probably damaging |
Het |
Or8c11 |
A |
T |
9: 38,289,542 (GRCm39) |
T122S |
probably damaging |
Het |
Or9q2 |
T |
G |
19: 13,772,693 (GRCm39) |
Q94P |
possibly damaging |
Het |
Pdgfrb |
A |
C |
18: 61,213,404 (GRCm39) |
Q916P |
probably damaging |
Het |
Pex14 |
T |
C |
4: 149,050,743 (GRCm39) |
Q174R |
probably benign |
Het |
Pogz |
T |
C |
3: 94,786,321 (GRCm39) |
S970P |
probably damaging |
Het |
Potegl |
T |
C |
2: 23,102,667 (GRCm39) |
|
probably benign |
Het |
Rabggta |
A |
G |
14: 55,955,952 (GRCm39) |
V165A |
possibly damaging |
Het |
Rdh10 |
G |
A |
1: 16,176,438 (GRCm39) |
W66* |
probably null |
Het |
Ripor2 |
T |
A |
13: 24,879,549 (GRCm39) |
|
probably benign |
Het |
Slc35g1 |
T |
A |
19: 38,391,678 (GRCm39) |
M320K |
possibly damaging |
Het |
Slc9a7 |
A |
G |
X: 20,068,963 (GRCm39) |
Y197H |
probably damaging |
Het |
Smn1 |
T |
C |
13: 100,272,192 (GRCm39) |
|
probably benign |
Het |
Spam1 |
G |
A |
6: 24,796,696 (GRCm39) |
G216S |
probably damaging |
Het |
Spata31 |
A |
T |
13: 65,068,194 (GRCm39) |
N114I |
probably damaging |
Het |
Sptbn1 |
A |
T |
11: 30,069,491 (GRCm39) |
V1615D |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Thoc2 |
T |
A |
X: 40,914,355 (GRCm39) |
Q1005H |
possibly damaging |
Het |
Thra |
G |
A |
11: 98,652,742 (GRCm39) |
R189Q |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,983,685 (GRCm39) |
|
probably null |
Het |
Vps13d |
G |
T |
4: 144,882,934 (GRCm39) |
H886Q |
probably damaging |
Het |
Zfp157 |
G |
A |
5: 138,445,859 (GRCm39) |
W71* |
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 |
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 |
2015-04-16 |