Incidental Mutation 'R3794:Fasl'
| ID |
272675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fasl
|
| Ensembl Gene |
ENSMUSG00000000817 |
| Gene Name |
Fas ligand |
| Synonyms |
Fasl, CD95L, APT1LG1, Tnfsf6, Fas-L, CD178 |
| MMRRC Submission |
040756-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.374)
|
| Stock # |
R3794 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
161608260-161616064 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 161609306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 17
(R17G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000834]
[ENSMUST00000193648]
|
| AlphaFold |
P41047 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000834
AA Change: R227G
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000000834
Gene: ENSMUSG00000000817
AA Change: R227G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
70 |
N/A |
INTRINSIC |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
TNF
|
143 |
279 |
2.29e-54 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193648
AA Change: R17G
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000141422
Gene: ENSMUSG00000000817
AA Change: R17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TNF
|
1 |
69 |
2.3e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a spontaneous allele, knock-out allele, or allele producting only the soluble isoform exhibit premature death due to the development of systemic lupus erythematosus, autoimmune glomerulonephritis, hepatomegaly, lymphadenopathy, and hypergammaglobulinaemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
C |
T |
15: 98,496,824 (GRCm39) |
V482I |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,431,486 (GRCm39) |
M1L |
probably damaging |
Het |
| Ceacam13 |
A |
G |
7: 17,747,340 (GRCm39) |
*264W |
probably null |
Het |
| Dennd5b |
A |
T |
6: 149,002,715 (GRCm39) |
D31E |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,654,597 (GRCm39) |
V706A |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,707,630 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
G |
6: 33,452,932 (GRCm39) |
V474G |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,649,719 (GRCm39) |
Y388H |
unknown |
Het |
| Htr1a |
G |
A |
13: 105,580,852 (GRCm39) |
V31M |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Itih3 |
T |
C |
14: 30,640,351 (GRCm39) |
Y319C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,735,240 (GRCm39) |
|
probably benign |
Het |
| Mobp |
A |
T |
9: 119,997,033 (GRCm39) |
K55* |
probably null |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,765,739 (GRCm39) |
I1057V |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,365,786 (GRCm39) |
Y224H |
probably damaging |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,214,864 (GRCm39) |
R1257Q |
probably damaging |
Het |
| Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,221,578 (GRCm39) |
Y351H |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,240,524 (GRCm39) |
E632G |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,837,985 (GRCm39) |
|
probably null |
Het |
| Tex16 |
T |
G |
X: 111,150,375 (GRCm39) |
M1R |
probably null |
Het |
| Tln1 |
G |
T |
4: 43,536,295 (GRCm39) |
A1999D |
probably damaging |
Het |
| Trgv5 |
A |
T |
13: 19,376,694 (GRCm39) |
H47L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,781 (GRCm39) |
V2405I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,812,007 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
A |
G |
7: 24,269,985 (GRCm39) |
T469A |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,070 (GRCm39) |
H612Q |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
|
| Other mutations in Fasl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Fasl
|
APN |
1 |
161,609,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01510:Fasl
|
APN |
1 |
161,609,522 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
riogrande
|
UTSW |
1 |
161,615,733 (GRCm39) |
missense |
probably benign |
|
|
riogrande2
|
UTSW |
1 |
161,614,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
ANU22:Fasl
|
UTSW |
1 |
161,609,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Fasl
|
UTSW |
1 |
161,615,733 (GRCm39) |
missense |
probably benign |
|
|
R0454:Fasl
|
UTSW |
1 |
161,615,523 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2167:Fasl
|
UTSW |
1 |
161,614,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3911:Fasl
|
UTSW |
1 |
161,615,760 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4082:Fasl
|
UTSW |
1 |
161,609,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4596:Fasl
|
UTSW |
1 |
161,615,838 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4622:Fasl
|
UTSW |
1 |
161,614,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6785:Fasl
|
UTSW |
1 |
161,609,404 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6969:Fasl
|
UTSW |
1 |
161,609,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7248:Fasl
|
UTSW |
1 |
161,615,760 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7336:Fasl
|
UTSW |
1 |
161,615,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8135:Fasl
|
UTSW |
1 |
161,614,697 (GRCm39) |
missense |
probably benign |
|
|
R9322:Fasl
|
UTSW |
1 |
161,609,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Fasl
|
UTSW |
1 |
161,615,535 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATATTCCTGGTGCCCATG -3'
(R):5'- CGCTCTGATCTCTGGAGTGAAG -3'
Sequencing Primer
(F):5'- TCCTGGTGCCCATGATAAAG -3'
(R):5'- CTCTGATCTCTGGAGTGAAGTATAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation