Incidental Mutation 'R6805:Faf1'
| ID |
533521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Faf1
|
| Ensembl Gene |
ENSMUSG00000010517 |
| Gene Name |
Fas-associated factor 1 |
| Synonyms |
Dffrx, Fam |
| MMRRC Submission |
044918-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6805 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
109533873-109821157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109719049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 385
(L385P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102724]
|
| AlphaFold |
P54731 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102724
AA Change: L385P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099785
Gene: ENSMUSG00000010517
AA Change: L385P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
8 |
43 |
2.5e-10 |
PFAM |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
109 |
155 |
3.24e-5 |
PROSPERO |
|
low complexity region
|
174 |
180 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
204 |
250 |
3.24e-5 |
PROSPERO |
|
UAS
|
335 |
480 |
3.79e-69 |
SMART |
|
coiled coil region
|
496 |
560 |
N/A |
INTRINSIC |
|
UBX
|
565 |
647 |
2.32e-33 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 97.1%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous fail to develop beyond 2-cell stage. Mice homozygous for a hypomorphic gene trap allele exhibit decreased susceptibility to dopaminergic neuron neurotoxicity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,946,744 (GRCm39) |
T214A |
possibly damaging |
Het |
| A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
| Aadac |
A |
C |
3: 59,944,757 (GRCm39) |
D143A |
probably benign |
Het |
| Acot10 |
T |
G |
15: 20,665,452 (GRCm39) |
T430P |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,865,253 (GRCm39) |
T197A |
possibly damaging |
Het |
| Bbs1 |
A |
G |
19: 4,950,643 (GRCm39) |
I200T |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,467,103 (GRCm38) |
A943V |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,838,673 (GRCm39) |
E48G |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,724,428 (GRCm39) |
C211S |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,890,073 (GRCm39) |
L1429P |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,273,790 (GRCm39) |
V2591A |
probably benign |
Het |
| Cul2 |
T |
G |
18: 3,421,263 (GRCm39) |
Y196D |
probably damaging |
Het |
| D630023F18Rik |
T |
C |
1: 65,156,365 (GRCm39) |
S43G |
probably benign |
Het |
| Ddx39a |
G |
A |
8: 84,449,766 (GRCm39) |
R427Q |
probably damaging |
Het |
| Def6 |
A |
G |
17: 28,442,691 (GRCm39) |
T285A |
probably damaging |
Het |
| Defb21 |
T |
A |
2: 152,416,789 (GRCm39) |
D88E |
probably benign |
Het |
| Defb6 |
A |
G |
8: 19,278,117 (GRCm39) |
K63R |
probably benign |
Het |
| Dnph1 |
T |
C |
17: 46,809,670 (GRCm39) |
S112P |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,564,407 (GRCm39) |
I467L |
probably benign |
Het |
| Dspp |
C |
A |
5: 104,323,716 (GRCm39) |
H286Q |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,253,501 (GRCm39) |
T459S |
probably benign |
Het |
| Fbxw21 |
C |
A |
9: 108,986,633 (GRCm39) |
R82L |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,437 (GRCm39) |
V2048A |
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,925,311 (GRCm39) |
D864V |
possibly damaging |
Het |
| Gata6 |
T |
G |
18: 11,054,460 (GRCm39) |
S130A |
possibly damaging |
Het |
| Gbf1 |
G |
T |
19: 46,250,946 (GRCm39) |
R434L |
probably damaging |
Het |
| Gga3 |
A |
G |
11: 115,476,588 (GRCm39) |
F709L |
probably damaging |
Het |
| Hcar1 |
A |
G |
5: 124,017,193 (GRCm39) |
V166A |
probably benign |
Het |
| Hexa |
T |
A |
9: 59,471,220 (GRCm39) |
N491K |
possibly damaging |
Het |
| Hpse2 |
A |
T |
19: 43,282,760 (GRCm39) |
C164* |
probably null |
Het |
| Ifi202b |
T |
C |
1: 173,802,555 (GRCm39) |
Y93C |
probably damaging |
Het |
| Iftap |
T |
C |
2: 101,396,804 (GRCm39) |
K192E |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,913,304 (GRCm39) |
I79N |
probably damaging |
Het |
| Jmjd7 |
T |
A |
2: 119,861,804 (GRCm39) |
Y182* |
probably null |
Het |
| Jup |
A |
T |
11: 100,274,284 (GRCm39) |
D135E |
probably benign |
Het |
| Kit |
T |
A |
5: 75,813,468 (GRCm39) |
I881N |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,593,691 (GRCm39) |
S55T |
probably benign |
Het |
| Lonp2 |
G |
A |
8: 87,435,724 (GRCm39) |
M653I |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,711,517 (GRCm39) |
Y307H |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,169,622 (GRCm39) |
M1914K |
possibly damaging |
Het |
| Ms4a1 |
A |
G |
19: 11,230,537 (GRCm39) |
|
probably null |
Het |
| Naip1 |
A |
G |
13: 100,563,849 (GRCm39) |
S439P |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Or10ag59 |
T |
A |
2: 87,405,262 (GRCm39) |
|
probably null |
Het |
| Or7g20 |
G |
T |
9: 18,946,597 (GRCm39) |
M59I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,729,026 (GRCm39) |
|
probably null |
Het |
| Phf12 |
G |
A |
11: 77,918,199 (GRCm39) |
G804R |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,414,074 (GRCm39) |
T234A |
|
Het |
| Prune2 |
A |
T |
19: 17,097,954 (GRCm39) |
I1153L |
probably benign |
Het |
| Ptprc |
C |
T |
1: 137,995,623 (GRCm39) |
|
probably null |
Het |
| Qpctl |
T |
C |
7: 18,883,079 (GRCm39) |
Q11R |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,676,092 (GRCm39) |
K103E |
possibly damaging |
Het |
| Srcin1 |
T |
A |
11: 97,442,806 (GRCm39) |
|
probably null |
Het |
| St6galnac1 |
G |
T |
11: 116,659,770 (GRCm39) |
A181D |
probably damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,398 (GRCm39) |
V475A |
probably benign |
Het |
| Tbc1d21 |
T |
C |
9: 58,268,571 (GRCm39) |
T263A |
possibly damaging |
Het |
| Tex24 |
A |
T |
8: 27,835,028 (GRCm39) |
K185N |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,917,127 (GRCm39) |
V2174E |
possibly damaging |
Het |
| Tollip |
A |
G |
7: 141,444,582 (GRCm39) |
S57P |
probably benign |
Het |
| Zbtb49 |
A |
G |
5: 38,370,585 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
A |
G |
17: 22,580,650 (GRCm39) |
T30A |
probably benign |
Het |
|
| Other mutations in Faf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00519:Faf1
|
APN |
4 |
109,697,578 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00569:Faf1
|
APN |
4 |
109,819,077 (GRCm39) |
makesense |
probably null |
|
|
IGL01398:Faf1
|
APN |
4 |
109,593,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01640:Faf1
|
APN |
4 |
109,697,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01739:Faf1
|
APN |
4 |
109,534,278 (GRCm39) |
splice site |
probably benign |
|
|
IGL02265:Faf1
|
APN |
4 |
109,600,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02372:Faf1
|
APN |
4 |
109,792,779 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02999:Faf1
|
APN |
4 |
109,719,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0058:Faf1
|
UTSW |
4 |
109,593,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0058:Faf1
|
UTSW |
4 |
109,593,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0098:Faf1
|
UTSW |
4 |
109,792,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0098:Faf1
|
UTSW |
4 |
109,792,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0183:Faf1
|
UTSW |
4 |
109,792,807 (GRCm39) |
missense |
probably benign |
|
|
R0463:Faf1
|
UTSW |
4 |
109,748,138 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0505:Faf1
|
UTSW |
4 |
109,697,600 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0755:Faf1
|
UTSW |
4 |
109,819,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1705:Faf1
|
UTSW |
4 |
109,534,199 (GRCm39) |
start gained |
probably benign |
|
|
R2061:Faf1
|
UTSW |
4 |
109,568,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Faf1
|
UTSW |
4 |
109,568,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Faf1
|
UTSW |
4 |
109,568,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2696:Faf1
|
UTSW |
4 |
109,698,525 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3937:Faf1
|
UTSW |
4 |
109,614,889 (GRCm39) |
splice site |
probably benign |
|
|
R3939:Faf1
|
UTSW |
4 |
109,719,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Faf1
|
UTSW |
4 |
109,584,625 (GRCm39) |
missense |
probably benign |
|
|
R4727:Faf1
|
UTSW |
4 |
109,697,564 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4860:Faf1
|
UTSW |
4 |
109,600,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4860:Faf1
|
UTSW |
4 |
109,600,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4896:Faf1
|
UTSW |
4 |
109,699,496 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4913:Faf1
|
UTSW |
4 |
109,792,746 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5688:Faf1
|
UTSW |
4 |
109,652,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5721:Faf1
|
UTSW |
4 |
109,792,863 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5905:Faf1
|
UTSW |
4 |
109,748,126 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6190:Faf1
|
UTSW |
4 |
109,719,012 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6364:Faf1
|
UTSW |
4 |
109,818,997 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6454:Faf1
|
UTSW |
4 |
109,699,531 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7101:Faf1
|
UTSW |
4 |
109,783,153 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7381:Faf1
|
UTSW |
4 |
109,719,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7392:Faf1
|
UTSW |
4 |
109,652,040 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7584:Faf1
|
UTSW |
4 |
109,783,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7660:Faf1
|
UTSW |
4 |
109,719,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7678:Faf1
|
UTSW |
4 |
109,687,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7715:Faf1
|
UTSW |
4 |
109,568,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7721:Faf1
|
UTSW |
4 |
109,593,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8773:Faf1
|
UTSW |
4 |
109,699,507 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9004:Faf1
|
UTSW |
4 |
109,698,550 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9028:Faf1
|
UTSW |
4 |
109,748,105 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9646:Faf1
|
UTSW |
4 |
109,652,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9700:Faf1
|
UTSW |
4 |
109,748,179 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1176:Faf1
|
UTSW |
4 |
109,697,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATAGTAGATGCTCTGGGAAC -3'
(R):5'- GCAAGACTGGAAAACATTCACAATG -3'
Sequencing Primer
(F):5'- GGAACCCTAAGATAAGGTGTGCTTTC -3'
(R):5'- GACTGGAAAACATTCACAATGATGAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation