Incidental Mutation 'R3401:Faim2'
| ID |
259205 |
| 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 |
040620-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R3401 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99394893-99426046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 99418229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 119
(V119I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023750]
[ENSMUST00000231171]
|
| AlphaFold |
Q8K097 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023750
AA Change: V131I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023750
Gene: ENSMUSG00000023011
AA Change: V131I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bax1-I
|
101 |
312 |
1.6e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230837
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231171
AA Change: V119I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.2156 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (30/30) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B3gat1 |
C |
A |
9: 26,667,149 (GRCm39) |
T127K |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,532,512 (GRCm39) |
M747K |
probably benign |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
| Eif1ad |
T |
C |
19: 5,418,276 (GRCm39) |
V20A |
probably benign |
Het |
| Fli1 |
G |
A |
9: 32,372,570 (GRCm39) |
S156L |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,635,154 (GRCm39) |
D399E |
probably benign |
Het |
| Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
| Htr2a |
T |
C |
14: 74,882,499 (GRCm39) |
S162P |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,358,411 (GRCm39) |
Q942* |
probably null |
Het |
| Ndrg3 |
C |
T |
2: 156,790,208 (GRCm39) |
V92M |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,628,193 (GRCm39) |
I422M |
possibly damaging |
Het |
| Polr3b |
C |
T |
10: 84,535,355 (GRCm39) |
T888M |
probably damaging |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,705,922 (GRCm39) |
T2323A |
possibly damaging |
Het |
| Sntg2 |
A |
G |
12: 30,338,171 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,534,170 (GRCm39) |
I3476V |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,873,097 (GRCm39) |
|
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,901,707 (GRCm39) |
M334T |
probably benign |
Het |
| Uprt |
A |
G |
X: 103,549,864 (GRCm39) |
D310G |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfp157 |
T |
A |
5: 138,455,273 (GRCm39) |
N490K |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,745 (GRCm39) |
E167G |
probably benign |
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 |
|
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 |
|
R8495:Faim2
|
UTSW |
15 |
99,408,473 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9277:Faim2
|
UTSW |
15 |
99,419,097 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGCAATCCAAAAGTTGC -3'
(R):5'- CTGTAAGAAGTTCCCCAAACGG -3'
Sequencing Primer
(F):5'- GCAATCCAAAAGTTGCTTCTGGC -3'
(R):5'- AAGTTCCCCAAACGGTGTGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation