Incidental Mutation 'IGL01906:Faim2'
ID |
179687 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Faim2
|
Ensembl Gene |
ENSMUSG00000023011 |
Gene Name |
Fas apoptotic inhibitory molecule 2 |
Synonyms |
Tmbim2, 2900002L20Rik, Lfg, lifeguard, NMP25 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
IGL01906
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
99394893-99426046 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 99412314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 140
(T140I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155195
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023750]
[ENSMUST00000231171]
|
AlphaFold |
Q8K097 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023750
AA Change: T152I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023750 Gene: ENSMUSG00000023011 AA Change: T152I
Domain | Start | End | E-Value | Type |
Pfam:Bax1-I
|
101 |
312 |
1.6e-36 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229214
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230603
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230837
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231171
AA Change: T140I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231211
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: A mutation in this gene results in kidney abnormalities including enlargement and dilation. A reduced seizure threshold in response to pharmacological agents is also observed. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,166,225 (GRCm39) |
Q24L |
probably damaging |
Het |
Adam1b |
A |
T |
5: 121,639,538 (GRCm39) |
N502K |
probably benign |
Het |
Adam6a |
T |
A |
12: 113,507,951 (GRCm39) |
M108K |
probably benign |
Het |
Akr1b10 |
A |
G |
6: 34,364,746 (GRCm39) |
K69R |
probably benign |
Het |
Ap5b1 |
T |
A |
19: 5,621,007 (GRCm39) |
L809* |
probably null |
Het |
Asxl3 |
A |
T |
18: 22,655,338 (GRCm39) |
H1116L |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,945,353 (GRCm39) |
T2794A |
probably damaging |
Het |
Bst1 |
T |
C |
5: 43,994,861 (GRCm39) |
F248L |
probably damaging |
Het |
Cep120 |
A |
T |
18: 53,847,984 (GRCm39) |
V625E |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,631,849 (GRCm39) |
M501V |
probably benign |
Het |
Col19a1 |
T |
A |
1: 24,356,510 (GRCm39) |
D661V |
probably damaging |
Het |
Copb2 |
A |
T |
9: 98,462,383 (GRCm39) |
E456V |
probably benign |
Het |
Csk |
A |
G |
9: 57,536,304 (GRCm39) |
I201T |
probably damaging |
Het |
Cttnbp2 |
G |
T |
6: 18,378,375 (GRCm39) |
S977* |
probably null |
Het |
Ddr2 |
A |
G |
1: 169,809,668 (GRCm39) |
W770R |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,214,613 (GRCm39) |
I1126T |
probably damaging |
Het |
Ephb4 |
A |
T |
5: 137,359,456 (GRCm39) |
E342V |
probably damaging |
Het |
Erc2 |
T |
A |
14: 27,863,263 (GRCm39) |
L496Q |
probably damaging |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Haus3 |
A |
C |
5: 34,325,667 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,543,638 (GRCm39) |
T2846A |
probably benign |
Het |
Mto1 |
T |
C |
9: 78,372,213 (GRCm39) |
V561A |
probably benign |
Het |
Myb |
T |
C |
10: 21,028,533 (GRCm39) |
Y110C |
probably damaging |
Het |
Or4k36 |
T |
C |
2: 111,146,246 (GRCm39) |
C141R |
probably damaging |
Het |
Plcd3 |
T |
C |
11: 102,967,682 (GRCm39) |
Y420C |
probably damaging |
Het |
Plk4 |
G |
T |
3: 40,764,816 (GRCm39) |
M603I |
probably null |
Het |
Scgb1b24 |
T |
C |
7: 33,443,538 (GRCm39) |
C66R |
probably damaging |
Het |
Sec23a |
T |
C |
12: 59,053,830 (GRCm39) |
Y56C |
probably damaging |
Het |
Setd1b |
C |
A |
5: 123,295,730 (GRCm39) |
D1099E |
unknown |
Het |
Sh2d7 |
G |
A |
9: 54,446,750 (GRCm39) |
|
probably benign |
Het |
Slc30a10 |
A |
T |
1: 185,188,593 (GRCm39) |
K221* |
probably null |
Het |
Slc5a1 |
T |
C |
5: 33,311,997 (GRCm39) |
L463P |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Strc |
T |
C |
2: 121,208,115 (GRCm39) |
T419A |
probably benign |
Het |
Styxl2 |
A |
C |
1: 165,927,092 (GRCm39) |
L840R |
probably damaging |
Het |
Ttc39a |
T |
C |
4: 109,278,591 (GRCm39) |
M82T |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps13b |
T |
C |
15: 35,639,993 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Faim2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02820:Faim2
|
APN |
15 |
99,419,138 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02989:Faim2
|
APN |
15 |
99,418,243 (GRCm39) |
splice site |
probably benign |
|
R0827:Faim2
|
UTSW |
15 |
99,422,617 (GRCm39) |
missense |
probably benign |
|
R1171:Faim2
|
UTSW |
15 |
99,398,135 (GRCm39) |
missense |
probably benign |
0.05 |
R1678:Faim2
|
UTSW |
15 |
99,418,217 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1785:Faim2
|
UTSW |
15 |
99,410,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R2004:Faim2
|
UTSW |
15 |
99,398,127 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2063:Faim2
|
UTSW |
15 |
99,412,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R3401:Faim2
|
UTSW |
15 |
99,418,229 (GRCm39) |
missense |
probably damaging |
0.98 |
R4242:Faim2
|
UTSW |
15 |
99,398,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Faim2
|
UTSW |
15 |
99,422,582 (GRCm39) |
missense |
probably benign |
|
R4664:Faim2
|
UTSW |
15 |
99,422,581 (GRCm39) |
critical splice donor site |
probably null |
|
R4665:Faim2
|
UTSW |
15 |
99,422,582 (GRCm39) |
missense |
probably benign |
|
R4665:Faim2
|
UTSW |
15 |
99,422,581 (GRCm39) |
critical splice donor site |
probably null |
|
R4719:Faim2
|
UTSW |
15 |
99,425,460 (GRCm39) |
critical splice donor site |
probably null |
|
R4952:Faim2
|
UTSW |
15 |
99,419,109 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5973:Faim2
|
UTSW |
15 |
99,419,132 (GRCm39) |
missense |
probably benign |
|
R7162:Faim2
|
UTSW |
15 |
99,419,048 (GRCm39) |
critical splice donor site |
probably null |
|
R7305:Faim2
|
UTSW |
15 |
99,411,814 (GRCm39) |
missense |
probably damaging |
0.99 |
R7601:Faim2
|
UTSW |
15 |
99,398,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R7979:Faim2
|
UTSW |
15 |
99,408,515 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8495:Faim2
|
UTSW |
15 |
99,408,473 (GRCm39) |
missense |
probably benign |
0.08 |
R9277:Faim2
|
UTSW |
15 |
99,419,097 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2014-05-07 |