Incidental Mutation 'IGL00817:Faim'
| ID |
277988 |
| 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 # |
IGL00817
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abracl |
A |
T |
10: 17,887,379 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,112,460 (GRCm39) |
M1332V |
probably damaging |
Het |
| Cebpz |
T |
C |
17: 79,242,259 (GRCm39) |
Y465C |
probably damaging |
Het |
| Dock9 |
G |
T |
14: 121,935,703 (GRCm39) |
T8K |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,085,638 (GRCm39) |
T79A |
probably benign |
Het |
| Homez |
G |
A |
14: 55,094,575 (GRCm39) |
R27* |
probably null |
Het |
| Ifnlr1 |
A |
G |
4: 135,431,596 (GRCm39) |
T262A |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,596,079 (GRCm39) |
D231G |
probably benign |
Het |
| Lipe |
T |
C |
7: 25,087,874 (GRCm39) |
D62G |
probably damaging |
Het |
| Mtss1 |
G |
A |
15: 58,815,481 (GRCm39) |
|
probably null |
Het |
| Myo1e |
A |
G |
9: 70,249,430 (GRCm39) |
K510R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,133,207 (GRCm39) |
K3444E |
probably damaging |
Het |
| Pcdha12 |
C |
A |
18: 37,154,986 (GRCm39) |
H568Q |
probably benign |
Het |
| Pck1 |
T |
C |
2: 172,995,225 (GRCm39) |
V15A |
possibly damaging |
Het |
| Polr2h |
T |
C |
16: 20,540,655 (GRCm39) |
|
probably benign |
Het |
| Psmb8 |
G |
A |
17: 34,419,703 (GRCm39) |
V186I |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,770,129 (GRCm39) |
Y750H |
probably benign |
Het |
| Rps11 |
C |
T |
7: 44,772,925 (GRCm39) |
R22Q |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Trim67 |
T |
C |
8: 125,541,799 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,225,013 (GRCm39) |
D540E |
probably benign |
Het |
| Wdr4 |
A |
G |
17: 31,720,232 (GRCm39) |
L240P |
possibly 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 |
|
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