Incidental Mutation 'IGL02703:Faim'
ID |
304191 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Faim
|
Ensembl Gene |
ENSMUSG00000032463 |
Gene Name |
Fas apoptotic inhibitory molecule |
Synonyms |
Faim-L, Faim-S |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.352)
|
Stock # |
IGL02703
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
98868426-98884074 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98874254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 49
(S49T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108532
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035038]
[ENSMUST00000112911]
[ENSMUST00000185472]
|
AlphaFold |
Q9WUD8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035038
AA Change: S27T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000035038 Gene: ENSMUSG00000032463 AA Change: S27T
Domain | Start | End | E-Value | Type |
Pfam:FAIM1
|
1 |
177 |
3e-98 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112911
AA Change: S49T
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108532 Gene: ENSMUSG00000032463 AA Change: S49T
Domain | Start | End | E-Value | Type |
Pfam:FAIM1
|
25 |
197 |
9.8e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185472
AA Change: S27T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000140627 Gene: ENSMUSG00000032463 AA Change: S27T
Domain | Start | End | E-Value | Type |
Pfam:FAIM1
|
1 |
175 |
1.8e-93 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186837
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187211
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene protects against death receptor-triggered apoptosis and regulates B-cell signaling and differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] PHENOTYPE: Mice homozygous for a null allele have thymocytes with an enhanced susceptibility to FAS-induced apoptosis, and B cells that more susceptible to activation induced cell death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad1 |
A |
T |
3: 37,118,390 (GRCm39) |
Q60L |
probably damaging |
Het |
AI593442 |
A |
C |
9: 52,589,418 (GRCm39) |
L53R |
probably damaging |
Het |
Bmp2 |
T |
G |
2: 133,403,324 (GRCm39) |
S292A |
probably benign |
Het |
Cd37 |
T |
C |
7: 44,884,949 (GRCm39) |
D186G |
probably benign |
Het |
Cenpf |
T |
C |
1: 189,391,955 (GRCm39) |
I626V |
probably benign |
Het |
Glrb |
T |
G |
3: 80,758,300 (GRCm39) |
E371A |
probably benign |
Het |
Kcne2 |
T |
C |
16: 92,093,838 (GRCm39) |
S122P |
possibly damaging |
Het |
Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
Or10v1 |
A |
G |
19: 11,873,606 (GRCm39) |
T74A |
possibly damaging |
Het |
Or2f1 |
T |
G |
6: 42,721,010 (GRCm39) |
I13S |
possibly damaging |
Het |
Or8k3 |
T |
A |
2: 86,059,323 (GRCm39) |
|
probably benign |
Het |
Pex1 |
C |
A |
5: 3,665,120 (GRCm39) |
H573Q |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,333,925 (GRCm39) |
S235P |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Slc41a2 |
T |
C |
10: 83,090,711 (GRCm39) |
K491R |
probably damaging |
Het |
Sugct |
T |
G |
13: 17,627,125 (GRCm39) |
T243P |
possibly damaging |
Het |
Tnfaip3 |
G |
T |
10: 18,882,780 (GRCm39) |
D212E |
probably damaging |
Het |
Trim68 |
A |
G |
7: 102,333,286 (GRCm39) |
V132A |
probably damaging |
Het |
|
Other mutations in Faim |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00772:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00783:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00784:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00785:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00786:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00809:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00811:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00813:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00814:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00815:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00816:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00817:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00821:Faim
|
APN |
9 |
98,874,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01330:Faim
|
APN |
9 |
98,874,588 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01925:Faim
|
APN |
9 |
98,872,972 (GRCm39) |
unclassified |
probably benign |
|
R0638:Faim
|
UTSW |
9 |
98,874,149 (GRCm39) |
splice site |
probably benign |
|
R1251:Faim
|
UTSW |
9 |
98,874,687 (GRCm39) |
missense |
probably damaging |
0.99 |
R5476:Faim
|
UTSW |
9 |
98,874,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R5901:Faim
|
UTSW |
9 |
98,874,195 (GRCm39) |
missense |
probably benign |
0.01 |
R6250:Faim
|
UTSW |
9 |
98,874,176 (GRCm39) |
start codon destroyed |
probably benign |
0.15 |
R7282:Faim
|
UTSW |
9 |
98,874,179 (GRCm39) |
missense |
probably benign |
|
R8034:Faim
|
UTSW |
9 |
98,874,786 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2015-04-16 |