Incidental Mutation 'R8495:Faim2'
ID |
658247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Faim2
|
Ensembl Gene |
ENSMUSG00000023011 |
Gene Name |
Fas apoptotic inhibitory molecule 2 |
Synonyms |
Tmbim2, 2900002L20Rik, Lfg, lifeguard, NMP25 |
MMRRC Submission |
067937-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R8495 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
99394893-99426046 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99408473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 253
(V253A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155195
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023750]
[ENSMUST00000231171]
|
AlphaFold |
Q8K097 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023750
AA Change: V265A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000023750 Gene: ENSMUSG00000023011 AA Change: V265A
Domain | Start | End | E-Value | Type |
Pfam:Bax1-I
|
101 |
312 |
1.6e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231171
AA Change: V253A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (38/39) |
MGI Phenotype |
PHENOTYPE: A mutation in this gene results in kidney abnormalities including enlargement and dilation. A reduced seizure threshold in response to pharmacological agents is also observed. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730480H06Rik |
A |
G |
5: 48,536,699 (GRCm39) |
T132A |
possibly damaging |
Het |
Abcb1b |
T |
G |
5: 8,915,865 (GRCm39) |
V1249G |
probably damaging |
Het |
Cdc5l |
A |
G |
17: 45,737,449 (GRCm39) |
L103P |
probably damaging |
Het |
Clrn2 |
G |
T |
5: 45,617,485 (GRCm39) |
A119S |
possibly damaging |
Het |
Cop1 |
A |
T |
1: 159,077,600 (GRCm39) |
H145L |
probably benign |
Het |
Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,794,161 (GRCm39) |
E660G |
probably damaging |
Het |
Dhx34 |
T |
C |
7: 15,952,472 (GRCm39) |
Y51C |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,409,414 (GRCm39) |
I3611V |
probably damaging |
Het |
Dock2 |
A |
T |
11: 34,181,622 (GRCm39) |
L1647Q |
probably benign |
Het |
Dpy19l4 |
G |
A |
4: 11,267,659 (GRCm39) |
T427M |
probably benign |
Het |
Eef2k |
T |
C |
7: 120,487,103 (GRCm39) |
L417P |
probably benign |
Het |
Eng |
A |
G |
2: 32,568,906 (GRCm39) |
S477G |
probably benign |
Het |
Enox1 |
T |
C |
14: 77,870,012 (GRCm39) |
I424T |
probably benign |
Het |
Farp2 |
A |
G |
1: 93,531,139 (GRCm39) |
I546V |
possibly damaging |
Het |
Fcgbp |
T |
G |
7: 27,785,978 (GRCm39) |
Y472D |
probably damaging |
Het |
Gm43302 |
A |
T |
5: 105,424,570 (GRCm39) |
C357S |
possibly damaging |
Het |
Gm47189 |
T |
C |
14: 41,492,053 (GRCm39) |
T75A |
probably damaging |
Het |
Mms22l |
A |
G |
4: 24,496,908 (GRCm39) |
M1V |
probably null |
Het |
Myo3a |
A |
T |
2: 22,401,084 (GRCm39) |
I618F |
probably damaging |
Het |
Nqo2 |
T |
C |
13: 34,165,477 (GRCm39) |
F125L |
probably damaging |
Het |
Or10q1 |
T |
A |
19: 13,726,593 (GRCm39) |
M41K |
possibly damaging |
Het |
Pdcd6ip |
G |
A |
9: 113,518,775 (GRCm39) |
H162Y |
probably benign |
Het |
Potefam1 |
C |
T |
2: 111,059,755 (GRCm39) |
M1I |
probably null |
Het |
Potegl |
A |
G |
2: 23,097,852 (GRCm39) |
E10G |
probably benign |
Het |
Rad9b |
T |
C |
5: 122,471,096 (GRCm39) |
|
probably null |
Het |
Robo3 |
A |
G |
9: 37,336,664 (GRCm39) |
F368S |
probably damaging |
Het |
Rsph4a |
G |
A |
10: 33,781,488 (GRCm39) |
A113T |
probably benign |
Het |
Smc2 |
A |
T |
4: 52,450,992 (GRCm39) |
N270I |
probably benign |
Het |
Son |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,183 (GRCm39) |
|
probably benign |
Het |
Spsb4 |
A |
G |
9: 96,877,622 (GRCm39) |
|
probably null |
Het |
Spta1 |
G |
A |
1: 174,043,051 (GRCm39) |
R1399Q |
probably benign |
Het |
Stab1 |
T |
C |
14: 30,877,790 (GRCm39) |
D749G |
probably damaging |
Het |
Tas2r115 |
A |
T |
6: 132,714,887 (GRCm39) |
N21K |
probably damaging |
Het |
Tbkbp1 |
A |
G |
11: 97,037,429 (GRCm39) |
V221A |
probably benign |
Het |
Tln2 |
G |
T |
9: 67,261,749 (GRCm39) |
N663K |
probably benign |
Het |
Tmprss11g |
A |
T |
5: 86,640,119 (GRCm39) |
I170K |
probably benign |
Het |
Tnfrsf21 |
G |
A |
17: 43,349,128 (GRCm39) |
E247K |
probably benign |
Het |
Trim23 |
T |
C |
13: 104,337,817 (GRCm39) |
Y522H |
probably benign |
Het |
Vmn1r204 |
G |
A |
13: 22,740,879 (GRCm39) |
C170Y |
probably damaging |
Het |
Vwa8 |
G |
T |
14: 79,174,617 (GRCm39) |
E349* |
probably null |
Het |
Xpo7 |
A |
G |
14: 70,907,989 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Faim2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01906:Faim2
|
APN |
15 |
99,412,314 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02820:Faim2
|
APN |
15 |
99,419,138 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02989:Faim2
|
APN |
15 |
99,418,243 (GRCm39) |
splice site |
probably benign |
|
R0827:Faim2
|
UTSW |
15 |
99,422,617 (GRCm39) |
missense |
probably benign |
|
R1171:Faim2
|
UTSW |
15 |
99,398,135 (GRCm39) |
missense |
probably benign |
0.05 |
R1678:Faim2
|
UTSW |
15 |
99,418,217 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1785:Faim2
|
UTSW |
15 |
99,410,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R2004:Faim2
|
UTSW |
15 |
99,398,127 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2063:Faim2
|
UTSW |
15 |
99,412,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R3401:Faim2
|
UTSW |
15 |
99,418,229 (GRCm39) |
missense |
probably damaging |
0.98 |
R4242:Faim2
|
UTSW |
15 |
99,398,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Faim2
|
UTSW |
15 |
99,422,582 (GRCm39) |
missense |
probably benign |
|
R4664:Faim2
|
UTSW |
15 |
99,422,581 (GRCm39) |
critical splice donor site |
probably null |
|
R4665:Faim2
|
UTSW |
15 |
99,422,582 (GRCm39) |
missense |
probably benign |
|
R4665:Faim2
|
UTSW |
15 |
99,422,581 (GRCm39) |
critical splice donor site |
probably null |
|
R4719:Faim2
|
UTSW |
15 |
99,425,460 (GRCm39) |
critical splice donor site |
probably null |
|
R4952:Faim2
|
UTSW |
15 |
99,419,109 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5973:Faim2
|
UTSW |
15 |
99,419,132 (GRCm39) |
missense |
probably benign |
|
R7162:Faim2
|
UTSW |
15 |
99,419,048 (GRCm39) |
critical splice donor site |
probably null |
|
R7305:Faim2
|
UTSW |
15 |
99,411,814 (GRCm39) |
missense |
probably damaging |
0.99 |
R7601:Faim2
|
UTSW |
15 |
99,398,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R7979:Faim2
|
UTSW |
15 |
99,408,515 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9277:Faim2
|
UTSW |
15 |
99,419,097 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGACACAAGACAGAATTCCCTG -3'
(R):5'- ACATGTCAGGTCTGTGGGAAG -3'
Sequencing Primer
(F):5'- GACAGAATTCCCTGCCTGAG -3'
(R):5'- GGAGCTCCCCAAGAATCACAG -3'
|
Posted On |
2021-01-18 |