Incidental Mutation 'R4242:Faim2'
| ID |
320263 |
| 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 |
041059-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R4242 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99394893-99426046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99398082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 289
(I289F)
|
| 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: I301F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023750
Gene: ENSMUSG00000023011
AA Change: I301F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bax1-I
|
101 |
312 |
1.6e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230837
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231171
AA Change: I289F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231211
|
| Meta Mutation Damage Score |
0.2525 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
C |
T |
5: 105,109,079 (GRCm39) |
R406H |
probably benign |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col6a2 |
C |
T |
10: 76,443,940 (GRCm39) |
|
probably null |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,065,939 (GRCm39) |
T355A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,045,297 (GRCm39) |
C148Y |
possibly damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,755 (GRCm39) |
S113P |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,064,351 (GRCm39) |
S1879P |
probably benign |
Het |
| Igll1 |
C |
A |
16: 16,681,564 (GRCm39) |
G64C |
probably benign |
Het |
| Klhdc7a |
G |
A |
4: 139,694,032 (GRCm39) |
P305L |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,707,820 (GRCm39) |
|
probably benign |
Het |
| Lrmda |
C |
A |
14: 22,077,303 (GRCm39) |
Y13* |
probably null |
Het |
| Mad2l1bp |
T |
C |
17: 46,463,913 (GRCm39) |
E37G |
possibly damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,911,771 (GRCm39) |
S265P |
probably benign |
Het |
| Mpl |
T |
A |
4: 118,313,968 (GRCm39) |
D99V |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,362,719 (GRCm39) |
G1302D |
possibly damaging |
Het |
| Odaph |
A |
G |
5: 92,142,749 (GRCm39) |
I104V |
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,666 (GRCm39) |
V180A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,480 (GRCm39) |
I8F |
possibly damaging |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,149,374 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,226,528 (GRCm39) |
H764Y |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,991,727 (GRCm39) |
F375S |
probably damaging |
Het |
| Spanxn4 |
T |
C |
12: 62,734,983 (GRCm39) |
|
noncoding transcript |
Het |
| Taf1 |
T |
C |
X: 100,588,109 (GRCm39) |
I457T |
probably benign |
Het |
| Tle3 |
A |
T |
9: 61,314,705 (GRCm39) |
M233L |
probably benign |
Het |
| Trpv3 |
T |
C |
11: 73,168,649 (GRCm39) |
I72T |
probably benign |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,311,857 (GRCm39) |
F188I |
probably benign |
Het |
| Zfp69 |
G |
A |
4: 120,791,672 (GRCm39) |
|
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 |
|
R3401:Faim2
|
UTSW |
15 |
99,418,229 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- GCATGGCATATGTACAAGCTG -3'
(R):5'- TAGTAAACCAGCAGCTTAGCCC -3'
Sequencing Primer
(F):5'- TATGTACAAGCTGCAGAAGGACACC -3'
(R):5'- TAGCCCCTCAGTGTCACAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation