Incidental Mutation 'IGL00785:Faim'
| ID |
277961 |
| 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 # |
IGL00785
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cpt1a |
T |
A |
19: 3,416,389 (GRCm39) |
N313K |
possibly damaging |
Het |
| Crb2 |
G |
A |
2: 37,682,076 (GRCm39) |
C819Y |
probably damaging |
Het |
| Ctnna3 |
T |
G |
10: 63,402,612 (GRCm39) |
F108V |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,042,609 (GRCm39) |
S931P |
probably benign |
Het |
| Ganc |
A |
C |
2: 120,272,079 (GRCm39) |
Y579S |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,875,759 (GRCm39) |
S189P |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,487,612 (GRCm39) |
E565G |
possibly damaging |
Het |
| Kif11 |
C |
A |
19: 37,392,745 (GRCm39) |
L559I |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,392,746 (GRCm39) |
L559P |
probably damaging |
Het |
| Luc7l2 |
T |
C |
6: 38,575,721 (GRCm39) |
S261P |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,703,555 (GRCm39) |
K2035E |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,862,814 (GRCm39) |
S1813P |
probably benign |
Het |
| Osbpl8 |
A |
G |
10: 111,108,905 (GRCm39) |
T396A |
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,337,094 (GRCm39) |
T560A |
probably benign |
Het |
| Rictor |
A |
C |
15: 6,806,431 (GRCm39) |
Q683P |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,666,448 (GRCm39) |
H1519Q |
possibly damaging |
Het |
| Slc34a2 |
A |
T |
5: 53,222,950 (GRCm39) |
I347F |
probably benign |
Het |
| Sned1 |
C |
A |
1: 93,201,891 (GRCm39) |
|
probably benign |
Het |
| St7l |
A |
G |
3: 104,780,895 (GRCm39) |
|
probably benign |
Het |
| Trmu |
T |
A |
15: 85,767,032 (GRCm39) |
D80E |
probably benign |
Het |
| Trpv4 |
A |
G |
5: 114,766,686 (GRCm39) |
V620A |
probably damaging |
Het |
| Ubr2 |
G |
A |
17: 47,255,791 (GRCm39) |
T1370I |
possibly damaging |
Het |
| Xpo5 |
T |
C |
17: 46,515,618 (GRCm39) |
V48A |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,146 (GRCm39) |
W104R |
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 |
|
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 |
Incidental Mutation