Incidental Mutation 'R5228:Aifm2'
| ID |
402743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aifm2
|
| Ensembl Gene |
ENSMUSG00000020085 |
| Gene Name |
apoptosis-inducing factor, mitochondrion-associated 2 |
| Synonyms |
Amid, 5430437E11Rik, D730001I10Rik, PRG3 |
| MMRRC Submission |
042801-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5228 (G1)
|
| Quality Score |
171 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61551042-61575039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61568196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 201
(V201A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067857]
[ENSMUST00000080099]
[ENSMUST00000099706]
[ENSMUST00000105455]
|
| AlphaFold |
Q8BUE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067857
AA Change: V201A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070054
Gene: ENSMUSG00000020085
AA Change: V201A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyr_redox_2
|
13 |
291 |
3.2e-20 |
PFAM |
|
Pfam:K_oxygenase
|
89 |
193 |
1.4e-7 |
PFAM |
|
Pfam:Pyr_redox
|
145 |
233 |
4e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080099
AA Change: V201A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078998
Gene: ENSMUSG00000020085
AA Change: V201A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyr_redox_2
|
12 |
302 |
5.4e-43 |
PFAM |
|
Pfam:K_oxygenase
|
94 |
190 |
5.2e-7 |
PFAM |
|
Pfam:Pyr_redox
|
144 |
230 |
7.2e-10 |
PFAM |
|
low complexity region
|
328 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099706
AA Change: V201A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097297
Gene: ENSMUSG00000020085
AA Change: V201A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyr_redox_2
|
13 |
291 |
3.2e-20 |
PFAM |
|
Pfam:K_oxygenase
|
89 |
193 |
1.4e-7 |
PFAM |
|
Pfam:Pyr_redox
|
145 |
233 |
4e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105455
AA Change: V201A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101095
Gene: ENSMUSG00000020085
AA Change: V201A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyr_redox_2
|
13 |
291 |
3.2e-20 |
PFAM |
|
Pfam:K_oxygenase
|
89 |
193 |
1.4e-7 |
PFAM |
|
Pfam:Pyr_redox
|
145 |
233 |
4e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140664
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null mice display reduced sensitivity to genotoxin induced cellular growth inhibition but have no change in spontaneous or induced tumor incidence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
C |
13: 12,303,545 (GRCm39) |
|
probably null |
Het |
| Agrn |
G |
T |
4: 156,251,403 (GRCm39) |
A1864D |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,741,820 (GRCm39) |
S751P |
probably benign |
Het |
| C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
| Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,476,768 (GRCm39) |
|
probably null |
Het |
| Frmpd1 |
T |
C |
4: 45,284,322 (GRCm39) |
S1048P |
probably damaging |
Het |
| Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
| Gbp8 |
G |
T |
5: 105,164,051 (GRCm39) |
Q416K |
probably benign |
Het |
| Gldn |
C |
T |
9: 54,242,003 (GRCm39) |
T319I |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,763,936 (GRCm39) |
D1405V |
probably damaging |
Het |
| Gtsf2 |
A |
G |
15: 103,353,042 (GRCm39) |
Y45H |
probably damaging |
Het |
| Hmcn1 |
C |
A |
1: 150,522,452 (GRCm39) |
V3483F |
probably benign |
Het |
| Hspa12b |
T |
C |
2: 130,984,884 (GRCm39) |
V385A |
possibly damaging |
Het |
| Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
| Inpp4b |
C |
G |
8: 82,494,744 (GRCm39) |
P53R |
probably damaging |
Het |
| Ipo7 |
T |
A |
7: 109,645,969 (GRCm39) |
C504S |
probably benign |
Het |
| Iws1 |
A |
G |
18: 32,221,314 (GRCm39) |
D549G |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,606,867 (GRCm39) |
E9G |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,635,439 (GRCm39) |
V810A |
probably damaging |
Het |
| Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
| N4bp2 |
T |
C |
5: 65,964,861 (GRCm39) |
V970A |
probably benign |
Het |
| Pira2 |
T |
A |
7: 3,847,373 (GRCm39) |
K105N |
probably benign |
Het |
| Pml |
G |
A |
9: 58,127,280 (GRCm39) |
R61C |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,860,415 (GRCm39) |
L76P |
probably damaging |
Het |
| Rlbp1 |
T |
G |
7: 79,027,082 (GRCm39) |
T193P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGG |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
| Sh3rf2 |
T |
C |
18: 42,286,246 (GRCm39) |
S548P |
possibly damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,304,384 (GRCm39) |
D609G |
possibly damaging |
Het |
| Slk |
A |
T |
19: 47,613,771 (GRCm39) |
I876F |
probably damaging |
Het |
| Tcf20 |
G |
A |
15: 82,740,156 (GRCm39) |
P432S |
probably benign |
Het |
| Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
| Topors |
G |
C |
4: 40,262,367 (GRCm39) |
L306V |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,929,844 (GRCm39) |
S171T |
probably damaging |
Het |
| Ube2m |
G |
T |
7: 12,769,697 (GRCm39) |
|
probably benign |
Het |
| Vmn1r37 |
T |
C |
6: 66,709,282 (GRCm39) |
*266Q |
probably null |
Het |
| Vmn2r34 |
T |
C |
7: 7,675,340 (GRCm39) |
T683A |
probably damaging |
Het |
|
| Other mutations in Aifm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02297:Aifm2
|
APN |
10 |
61,571,327 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02561:Aifm2
|
APN |
10 |
61,561,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02708:Aifm2
|
APN |
10 |
61,574,354 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0690:Aifm2
|
UTSW |
10 |
61,562,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2119:Aifm2
|
UTSW |
10 |
61,571,383 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2404:Aifm2
|
UTSW |
10 |
61,563,974 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4698:Aifm2
|
UTSW |
10 |
61,563,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4826:Aifm2
|
UTSW |
10 |
61,561,768 (GRCm39) |
missense |
probably benign |
|
|
R5668:Aifm2
|
UTSW |
10 |
61,561,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Aifm2
|
UTSW |
10 |
61,563,496 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8307:Aifm2
|
UTSW |
10 |
61,562,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9118:Aifm2
|
UTSW |
10 |
61,561,681 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9130:Aifm2
|
UTSW |
10 |
61,563,505 (GRCm39) |
missense |
probably null |
0.73 |
|
R9321:Aifm2
|
UTSW |
10 |
61,571,410 (GRCm39) |
nonsense |
probably null |
|
|
X0025:Aifm2
|
UTSW |
10 |
61,571,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCAGTATTAGATGGGAAGTCGG -3'
(R):5'- GTCCTGTTCCTAAGCTACAGC -3'
Sequencing Primer
(F):5'- GAGAGAGGACTCGGAGGCTTC -3'
(R):5'- TGGACACAGCTCAAGCCAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation