Incidental Mutation 'IGL00815:Faim'
ID |
277983 |
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 # |
IGL00815
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adal |
A |
G |
2: 120,981,699 (GRCm39) |
|
probably benign |
Het |
Arhgap20 |
A |
G |
9: 51,760,713 (GRCm39) |
N819D |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,965,112 (GRCm39) |
I2061V |
probably benign |
Het |
Chrna4 |
T |
C |
2: 180,671,184 (GRCm39) |
I191V |
probably benign |
Het |
Crim1 |
A |
G |
17: 78,677,520 (GRCm39) |
E907G |
probably damaging |
Het |
Cyp2d9 |
T |
A |
15: 82,340,576 (GRCm39) |
D175E |
possibly damaging |
Het |
Eml4 |
A |
G |
17: 83,758,219 (GRCm39) |
|
probably benign |
Het |
Fam3c |
A |
T |
6: 22,318,947 (GRCm39) |
D151E |
probably damaging |
Het |
Far1 |
G |
A |
7: 113,139,896 (GRCm39) |
V115I |
probably benign |
Het |
Gfap |
T |
C |
11: 102,779,516 (GRCm39) |
D427G |
possibly damaging |
Het |
Hdac5 |
A |
G |
11: 102,088,168 (GRCm39) |
F934S |
probably damaging |
Het |
Hyou1 |
A |
G |
9: 44,296,443 (GRCm39) |
E456G |
probably benign |
Het |
Kl |
G |
A |
5: 150,904,315 (GRCm39) |
E356K |
possibly damaging |
Het |
Morc1 |
T |
C |
16: 48,281,055 (GRCm39) |
I198T |
possibly damaging |
Het |
Mroh9 |
C |
T |
1: 162,866,700 (GRCm39) |
V679M |
probably damaging |
Het |
Pigr |
T |
A |
1: 130,762,167 (GRCm39) |
M1K |
probably null |
Het |
Pkn3 |
C |
A |
2: 29,971,212 (GRCm39) |
P260T |
possibly damaging |
Het |
Pld5 |
T |
G |
1: 175,967,585 (GRCm39) |
D28A |
probably damaging |
Het |
Plekhg2 |
G |
A |
7: 28,060,294 (GRCm39) |
Q1012* |
probably null |
Het |
Ppp1ca |
A |
G |
19: 4,243,143 (GRCm39) |
I104V |
probably benign |
Het |
Rad21l |
A |
G |
2: 151,509,909 (GRCm39) |
V64A |
probably damaging |
Het |
Rbm20 |
A |
G |
19: 53,803,948 (GRCm39) |
D427G |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,735,149 (GRCm39) |
I2792V |
possibly damaging |
Het |
Sec23a |
C |
T |
12: 59,039,068 (GRCm39) |
C248Y |
possibly damaging |
Het |
Sf3b1 |
A |
T |
1: 55,036,090 (GRCm39) |
|
probably benign |
Het |
Slc30a1 |
A |
G |
1: 191,641,191 (GRCm39) |
N279S |
probably damaging |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Spic |
T |
C |
10: 88,511,729 (GRCm39) |
N176D |
probably damaging |
Het |
Tlk2 |
C |
T |
11: 105,137,621 (GRCm39) |
Q184* |
probably null |
Het |
Tpm4 |
T |
C |
8: 72,897,347 (GRCm39) |
I107T |
probably benign |
Het |
Ttll11 |
A |
T |
2: 35,792,732 (GRCm39) |
C186* |
probably null |
Het |
Txlnb |
A |
T |
10: 17,718,711 (GRCm39) |
H514L |
probably damaging |
Het |
Zfpm2 |
T |
A |
15: 40,962,887 (GRCm39) |
M183K |
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 |
IGL00814: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 |