Incidental Mutation 'IGL00814:Faim'
| ID |
277981 |
| 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: 0.499)
|
| Stock # |
IGL00814
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cops6 |
G |
T |
5: 138,161,640 (GRCm39) |
R58L |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,470,894 (GRCm39) |
M262K |
probably damaging |
Het |
| Gria4 |
A |
T |
9: 4,472,202 (GRCm39) |
M429K |
probably damaging |
Het |
| Hipk2 |
G |
A |
6: 38,795,484 (GRCm39) |
R262W |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,844,389 (GRCm39) |
I143K |
possibly damaging |
Het |
| Mbtd1 |
T |
A |
11: 93,834,666 (GRCm39) |
S615T |
possibly damaging |
Het |
| Nlrp9c |
C |
T |
7: 26,084,175 (GRCm39) |
S468N |
probably benign |
Het |
| Nt5c2 |
A |
T |
19: 46,886,087 (GRCm39) |
D212E |
probably benign |
Het |
| Or52e19 |
A |
T |
7: 102,959,014 (GRCm39) |
I29L |
probably benign |
Het |
| Pck2 |
T |
C |
14: 55,785,756 (GRCm39) |
|
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,516,721 (GRCm39) |
Q230R |
probably damaging |
Het |
| Pomk |
T |
C |
8: 26,473,624 (GRCm39) |
T110A |
probably benign |
Het |
| Psg23 |
C |
T |
7: 18,348,608 (GRCm39) |
W66* |
probably null |
Het |
| Rnf144b |
T |
C |
13: 47,373,964 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
G |
A |
11: 104,077,805 (GRCm39) |
G202S |
possibly damaging |
Het |
| Thnsl2 |
A |
C |
6: 71,116,867 (GRCm39) |
L95R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,637,511 (GRCm39) |
V12248A |
probably benign |
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 |
|
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