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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
IGL02377
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
3114224-3227806 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 3223586 bp (GRCm38)
|
| 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 |
|---|
| 4931423N10Rik |
T |
C |
2: 23,212,655 (GRCm38) |
|
probably benign |
Het |
| Aatk |
A |
T |
11: 120,046,863 (GRCm38) |
|
probably benign |
Het |
| Abca15 |
T |
C |
7: 120,365,910 (GRCm38) |
|
probably benign |
Het |
| App |
T |
C |
16: 85,082,831 (GRCm38) |
Q138R |
probably benign |
Het |
| Asah2 |
T |
A |
19: 32,009,414 (GRCm38) |
I529F |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,520,294 (GRCm38) |
S1195P |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,524,323 (GRCm38) |
M134T |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,068,994 (GRCm38) |
L111P |
probably damaging |
Het |
| Capns2 |
A |
T |
8: 92,901,587 (GRCm38) |
N35Y |
probably benign |
Het |
| Ccne1 |
A |
G |
7: 38,098,990 (GRCm38) |
|
probably null |
Het |
| Cfap91 |
G |
T |
16: 38,332,819 (GRCm38) |
|
probably benign |
Het |
| Csf1r |
G |
T |
18: 61,124,468 (GRCm38) |
|
probably benign |
Het |
| Dipk2b |
T |
A |
X: 18,447,691 (GRCm38) |
I131F |
possibly damaging |
Het |
| Dlg3 |
A |
T |
X: 100,773,401 (GRCm38) |
Y326F |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,794,796 (GRCm38) |
V3837A |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,584,994 (GRCm38) |
|
probably null |
Het |
| Emg1 |
A |
G |
6: 124,704,657 (GRCm38) |
V208A |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,777,282 (GRCm38) |
D1280V |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,720,825 (GRCm38) |
D911G |
unknown |
Het |
| Fcgbp |
T |
C |
7: 28,106,970 (GRCm38) |
V2121A |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,623,477 (GRCm38) |
|
probably benign |
Het |
| Fignl1 |
G |
T |
11: 11,802,845 (GRCm38) |
T70K |
possibly damaging |
Het |
| Fndc3b |
T |
C |
3: 27,620,652 (GRCm38) |
E47G |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,534,574 (GRCm38) |
K189E |
possibly damaging |
Het |
| Hpse |
T |
A |
5: 100,691,333 (GRCm38) |
Y383F |
probably damaging |
Het |
| Ip6k2 |
T |
C |
9: 108,804,599 (GRCm38) |
L197P |
probably damaging |
Het |
| Klf1 |
A |
C |
8: 84,904,932 (GRCm38) |
H375P |
probably damaging |
Het |
| Krtap6-5 |
T |
A |
16: 89,047,846 (GRCm38) |
|
probably benign |
Het |
| Lacc1 |
A |
T |
14: 77,029,615 (GRCm38) |
S403T |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,556,750 (GRCm38) |
I2850V |
possibly damaging |
Het |
| Lats2 |
C |
T |
14: 57,691,595 (GRCm38) |
R941Q |
probably damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,393,464 (GRCm38) |
Y430N |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 126,014,874 (GRCm38) |
H1103L |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 158,036,728 (GRCm38) |
M1I |
probably null |
Het |
| Magee2 |
A |
T |
X: 104,856,793 (GRCm38) |
V84D |
possibly damaging |
Het |
| Msantd2 |
G |
A |
9: 37,523,306 (GRCm38) |
V281I |
possibly damaging |
Het |
| Mycbpap |
A |
G |
11: 94,503,250 (GRCm38) |
V340A |
probably damaging |
Het |
| Myh6 |
A |
T |
14: 54,944,318 (GRCm38) |
M1842K |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,722,147 (GRCm38) |
D145G |
possibly damaging |
Het |
| Nfkbid |
C |
T |
7: 30,425,264 (GRCm38) |
Q160* |
probably null |
Het |
| Or11h6 |
T |
A |
14: 50,642,518 (GRCm38) |
|
probably null |
Het |
| Or2y1d |
A |
T |
11: 49,431,032 (GRCm38) |
K185N |
probably damaging |
Het |
| Or5w1b |
T |
A |
2: 87,645,286 (GRCm38) |
Y279F |
probably damaging |
Het |
| Or7e168 |
C |
T |
9: 19,809,047 (GRCm38) |
S243F |
probably damaging |
Het |
| Or8c11 |
A |
T |
9: 38,378,246 (GRCm38) |
T122S |
probably damaging |
Het |
| Or9q2 |
T |
G |
19: 13,795,329 (GRCm38) |
Q94P |
possibly damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,080,332 (GRCm38) |
Q916P |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 148,966,286 (GRCm38) |
Q174R |
probably benign |
Het |
| Pogz |
T |
C |
3: 94,879,010 (GRCm38) |
S970P |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,718,495 (GRCm38) |
V165A |
possibly damaging |
Het |
| Rdh10 |
G |
A |
1: 16,106,214 (GRCm38) |
W66* |
probably null |
Het |
| Ripor2 |
T |
A |
13: 24,695,566 (GRCm38) |
|
probably benign |
Het |
| Slc35g1 |
T |
A |
19: 38,403,230 (GRCm38) |
M320K |
possibly damaging |
Het |
| Slc9a7 |
A |
G |
X: 20,202,724 (GRCm38) |
Y197H |
probably damaging |
Het |
| Smn1 |
T |
C |
13: 100,135,684 (GRCm38) |
|
probably benign |
Het |
| Spam1 |
G |
A |
6: 24,796,697 (GRCm38) |
G216S |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 64,920,380 (GRCm38) |
N114I |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,119,491 (GRCm38) |
V1615D |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,325,104 (GRCm38) |
P658L |
unknown |
Het |
| Thoc2 |
T |
A |
X: 41,825,478 (GRCm38) |
Q1005H |
possibly damaging |
Het |
| Thra |
G |
A |
11: 98,761,916 (GRCm38) |
R189Q |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,530,650 (GRCm38) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 145,156,364 (GRCm38) |
H886Q |
probably damaging |
Het |
| Zfp157 |
G |
A |
5: 138,447,597 (GRCm38) |
W71* |
probably null |
Het |
|
| Other mutations in Fam171a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Fam171a1
|
APN |
2 |
3,178,290 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01138:Fam171a1
|
APN |
2 |
3,202,620 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL01317:Fam171a1
|
APN |
2 |
3,202,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02475:Fam171a1
|
APN |
2 |
3,223,490 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL02477:Fam171a1
|
APN |
2 |
3,202,575 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
ghosted
|
UTSW |
2 |
3,225,152 (GRCm38) |
nonsense |
probably null |
|
|
R0167:Fam171a1
|
UTSW |
2 |
3,186,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0426:Fam171a1
|
UTSW |
2 |
3,225,396 (GRCm38) |
missense |
probably benign |
|
|
R0468:Fam171a1
|
UTSW |
2 |
3,225,396 (GRCm38) |
missense |
probably benign |
|
|
R0811:Fam171a1
|
UTSW |
2 |
3,197,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0812:Fam171a1
|
UTSW |
2 |
3,197,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1099:Fam171a1
|
UTSW |
2 |
3,225,317 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1694:Fam171a1
|
UTSW |
2 |
3,225,623 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1817:Fam171a1
|
UTSW |
2 |
3,178,373 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1869:Fam171a1
|
UTSW |
2 |
3,226,152 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1887:Fam171a1
|
UTSW |
2 |
3,220,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2173:Fam171a1
|
UTSW |
2 |
3,225,619 (GRCm38) |
nonsense |
probably null |
|
|
R2355:Fam171a1
|
UTSW |
2 |
3,225,533 (GRCm38) |
nonsense |
probably null |
|
|
R3690:Fam171a1
|
UTSW |
2 |
3,226,356 (GRCm38) |
missense |
probably benign |
|
|
R3723:Fam171a1
|
UTSW |
2 |
3,220,375 (GRCm38) |
splice site |
probably benign |
|
|
R3978:Fam171a1
|
UTSW |
2 |
3,225,035 (GRCm38) |
missense |
probably benign |
|
|
R4087:Fam171a1
|
UTSW |
2 |
3,226,296 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4647:Fam171a1
|
UTSW |
2 |
3,220,291 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4744:Fam171a1
|
UTSW |
2 |
3,224,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4777:Fam171a1
|
UTSW |
2 |
3,223,513 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4786:Fam171a1
|
UTSW |
2 |
3,225,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4888:Fam171a1
|
UTSW |
2 |
3,223,509 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4982:Fam171a1
|
UTSW |
2 |
3,178,468 (GRCm38) |
splice site |
probably null |
|
|
R5137:Fam171a1
|
UTSW |
2 |
3,225,389 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5203:Fam171a1
|
UTSW |
2 |
3,223,545 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5233:Fam171a1
|
UTSW |
2 |
3,178,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5304:Fam171a1
|
UTSW |
2 |
3,225,617 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5475:Fam171a1
|
UTSW |
2 |
3,225,297 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5682:Fam171a1
|
UTSW |
2 |
3,226,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5865:Fam171a1
|
UTSW |
2 |
3,225,337 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6322:Fam171a1
|
UTSW |
2 |
3,226,355 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7082:Fam171a1
|
UTSW |
2 |
3,223,475 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7141:Fam171a1
|
UTSW |
2 |
3,225,152 (GRCm38) |
nonsense |
probably null |
|
|
R7155:Fam171a1
|
UTSW |
2 |
3,225,729 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7243:Fam171a1
|
UTSW |
2 |
3,118,616 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7326:Fam171a1
|
UTSW |
2 |
3,226,472 (GRCm38) |
nonsense |
probably null |
|
|
R7477:Fam171a1
|
UTSW |
2 |
3,225,639 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7574:Fam171a1
|
UTSW |
2 |
3,220,354 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7745:Fam171a1
|
UTSW |
2 |
3,225,446 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7753:Fam171a1
|
UTSW |
2 |
3,178,317 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7871:Fam171a1
|
UTSW |
2 |
3,225,384 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7958:Fam171a1
|
UTSW |
2 |
3,178,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8677:Fam171a1
|
UTSW |
2 |
3,220,315 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8793:Fam171a1
|
UTSW |
2 |
3,186,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8850:Fam171a1
|
UTSW |
2 |
3,220,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8865:Fam171a1
|
UTSW |
2 |
3,225,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9016:Fam171a1
|
UTSW |
2 |
3,226,397 (GRCm38) |
missense |
probably benign |
0.43 |
|
R9090:Fam171a1
|
UTSW |
2 |
3,223,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9251:Fam171a1
|
UTSW |
2 |
3,225,488 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9271:Fam171a1
|
UTSW |
2 |
3,223,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9350:Fam171a1
|
UTSW |
2 |
3,225,000 (GRCm38) |
missense |
probably benign |
0.12 |
|
X0019:Fam171a1
|
UTSW |
2 |
3,225,593 (GRCm38) |
missense |
probably benign |
0.19 |
|
Z1177:Fam171a1
|
UTSW |
2 |
3,224,934 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2015-04-16 |
Incidental Mutation