Incidental Mutation 'IGL00772:Faim'
ID |
277901 |
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 # |
IGL00772
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
98868426-98884074 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 98874218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 15
(G15R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035038]
[ENSMUST00000112911]
[ENSMUST00000185472]
|
AlphaFold |
Q9WUD8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035038
AA Change: G15R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035038 Gene: ENSMUSG00000032463 AA Change: G15R
Domain | Start | End | E-Value | Type |
Pfam:FAIM1
|
1 |
177 |
3e-98 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112911
AA Change: G37R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108532 Gene: ENSMUSG00000032463 AA Change: G37R
Domain | Start | End | E-Value | Type |
Pfam:FAIM1
|
25 |
197 |
9.8e-90 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000185472
AA Change: G15R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140627 Gene: ENSMUSG00000032463 AA Change: G15R
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2 |
A |
T |
1: 59,209,055 (GRCm39) |
C1501* |
probably null |
Het |
Ap3b2 |
T |
C |
7: 81,121,697 (GRCm39) |
E513G |
probably damaging |
Het |
Cdh19 |
T |
C |
1: 110,876,982 (GRCm39) |
D119G |
probably damaging |
Het |
Clasp2 |
A |
G |
9: 113,735,060 (GRCm39) |
|
probably benign |
Het |
Cobl |
A |
G |
11: 12,216,985 (GRCm39) |
M419T |
probably benign |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Ctu2 |
T |
C |
8: 123,203,977 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
A |
C |
11: 69,342,083 (GRCm39) |
Y2968D |
probably damaging |
Het |
Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
Folh1 |
A |
G |
7: 86,380,992 (GRCm39) |
S494P |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,783,971 (GRCm39) |
I825N |
probably benign |
Het |
Grk1 |
A |
G |
8: 13,455,349 (GRCm39) |
T78A |
probably benign |
Het |
Lipi |
A |
T |
16: 75,347,254 (GRCm39) |
|
probably benign |
Het |
Mak |
A |
T |
13: 41,209,296 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,430,199 (GRCm39) |
E636G |
probably damaging |
Het |
Psmd1 |
T |
C |
1: 86,017,920 (GRCm39) |
|
probably benign |
Het |
Scara5 |
G |
A |
14: 65,908,011 (GRCm39) |
|
probably benign |
Het |
Skint8 |
A |
G |
4: 111,796,120 (GRCm39) |
I265V |
probably benign |
Het |
Slc48a1 |
A |
G |
15: 97,687,835 (GRCm39) |
Y63C |
probably damaging |
Het |
Slc4a2 |
G |
T |
5: 24,640,194 (GRCm39) |
V598L |
probably damaging |
Het |
Smo |
A |
T |
6: 29,758,893 (GRCm39) |
K565* |
probably null |
Het |
Spink5 |
A |
G |
18: 44,139,487 (GRCm39) |
I617V |
probably benign |
Het |
Tmed11 |
T |
C |
5: 108,934,031 (GRCm39) |
D55G |
probably benign |
Het |
Tro |
A |
G |
X: 149,438,321 (GRCm39) |
V112A |
probably benign |
Het |
Utrn |
G |
A |
10: 12,524,929 (GRCm39) |
R2185C |
probably benign |
Het |
|
Other mutations in Faim |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
IGL02703:Faim
|
APN |
9 |
98,874,254 (GRCm39) |
missense |
probably benign |
0.09 |
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 |