Incidental Mutation 'IGL00964:Aifm3'
| ID |
29185 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aifm3
|
| Ensembl Gene |
ENSMUSG00000022763 |
| Gene Name |
apoptosis-inducing factor, mitochondrion-associated 3 |
| Synonyms |
2810401C16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
IGL00964
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17307475-17325349 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17318228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 144
(D144G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023448]
[ENSMUST00000115685]
|
| AlphaFold |
Q3TY86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023448
AA Change: D144G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763
AA Change: D144G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rieske
|
68 |
161 |
3.6e-18 |
PFAM |
|
Pfam:Rieske_2
|
70 |
166 |
7.7e-11 |
PFAM |
|
Pfam:Pyr_redox_2
|
196 |
473 |
1.1e-34 |
PFAM |
|
Pfam:Pyr_redox
|
334 |
416 |
7e-17 |
PFAM |
|
Pfam:Reductase_C
|
512 |
591 |
9.4e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115685
AA Change: D144G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763
AA Change: D144G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rieske
|
68 |
161 |
6.5e-23 |
PFAM |
|
Pfam:Rieske_2
|
70 |
166 |
1.4e-10 |
PFAM |
|
Pfam:Pyr_redox_2
|
195 |
493 |
1.6e-65 |
PFAM |
|
Pfam:Pyr_redox
|
334 |
416 |
7.3e-18 |
PFAM |
|
Pfam:Reductase_C
|
512 |
586 |
9.3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134952
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232359
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231800
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
T |
A |
7: 44,009,610 (GRCm39) |
*197C |
probably null |
Het |
| Acsl6 |
A |
G |
11: 54,216,472 (GRCm39) |
Y213C |
probably damaging |
Het |
| Agt |
T |
C |
8: 125,284,634 (GRCm39) |
|
probably benign |
Het |
| Alad |
T |
C |
4: 62,432,330 (GRCm39) |
I32V |
probably benign |
Het |
| Astn2 |
T |
A |
4: 66,103,424 (GRCm39) |
M330L |
unknown |
Het |
| AU040320 |
T |
A |
4: 126,748,199 (GRCm39) |
C1029* |
probably null |
Het |
| Brca2 |
T |
A |
5: 150,455,775 (GRCm39) |
I172N |
probably damaging |
Het |
| Brme1 |
T |
C |
8: 84,893,343 (GRCm39) |
I170T |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,800,765 (GRCm39) |
|
probably null |
Het |
| Dusp26 |
G |
T |
8: 31,584,136 (GRCm39) |
R81L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,174,881 (GRCm39) |
|
probably benign |
Het |
| Ehd4 |
A |
G |
2: 119,958,163 (GRCm39) |
C141R |
probably benign |
Het |
| Ftsj3 |
G |
T |
11: 106,143,941 (GRCm39) |
A261D |
probably benign |
Het |
| Gm5431 |
G |
A |
11: 48,780,094 (GRCm39) |
T554I |
probably damaging |
Het |
| Hyls1 |
A |
G |
9: 35,473,408 (GRCm39) |
|
probably benign |
Het |
| Ifi213 |
T |
A |
1: 173,421,518 (GRCm39) |
T124S |
possibly damaging |
Het |
| Ints10 |
T |
A |
8: 69,264,638 (GRCm39) |
I457N |
probably damaging |
Het |
| Klk1b1 |
T |
G |
7: 43,620,593 (GRCm39) |
S228A |
possibly damaging |
Het |
| Lpar2 |
T |
C |
8: 70,279,162 (GRCm39) |
S319P |
probably benign |
Het |
| Lsr |
T |
C |
7: 30,671,421 (GRCm39) |
N104S |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,391,604 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
A |
14: 123,532,796 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
G |
A |
2: 144,147,599 (GRCm39) |
A217V |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,415,784 (GRCm39) |
Q447L |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,335,726 (GRCm39) |
I453T |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,916,793 (GRCm39) |
W1037* |
probably null |
Het |
| Rabgef1 |
T |
C |
5: 130,219,863 (GRCm39) |
S109P |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,740,802 (GRCm39) |
I2995T |
probably benign |
Het |
| Slamf6 |
T |
A |
1: 171,745,347 (GRCm39) |
C25S |
probably null |
Het |
| Slc28a2b |
A |
T |
2: 122,347,527 (GRCm39) |
Q229H |
probably damaging |
Het |
| Sorbs2 |
A |
C |
8: 46,248,714 (GRCm39) |
N520T |
probably damaging |
Het |
| Spr-ps1 |
C |
A |
6: 85,132,016 (GRCm39) |
|
noncoding transcript |
Het |
| Stx4a |
A |
G |
7: 127,441,898 (GRCm39) |
Q92R |
probably benign |
Het |
| Tab2 |
A |
C |
10: 7,785,837 (GRCm39) |
V638G |
probably benign |
Het |
| Trim41 |
C |
A |
11: 48,703,190 (GRCm39) |
R79S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 85,896,057 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,404,203 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
T |
A |
17: 5,762,756 (GRCm39) |
L220Q |
probably damaging |
Het |
|
| Other mutations in Aifm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01663:Aifm3
|
APN |
16 |
17,320,650 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01669:Aifm3
|
APN |
16 |
17,321,405 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01768:Aifm3
|
APN |
16 |
17,324,141 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02562:Aifm3
|
APN |
16 |
17,324,126 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02617:Aifm3
|
APN |
16 |
17,318,397 (GRCm39) |
missense |
probably null |
0.11 |
|
IGL03256:Aifm3
|
APN |
16 |
17,324,174 (GRCm39) |
missense |
probably benign |
0.07 |
|
P0026:Aifm3
|
UTSW |
16 |
17,324,981 (GRCm39) |
unclassified |
probably benign |
|
|
R0638:Aifm3
|
UTSW |
16 |
17,321,535 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4928:Aifm3
|
UTSW |
16 |
17,318,296 (GRCm39) |
intron |
probably benign |
|
|
R5141:Aifm3
|
UTSW |
16 |
17,317,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Aifm3
|
UTSW |
16 |
17,319,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6463:Aifm3
|
UTSW |
16 |
17,318,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8112:Aifm3
|
UTSW |
16 |
17,320,804 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8962:Aifm3
|
UTSW |
16 |
17,324,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9546:Aifm3
|
UTSW |
16 |
17,317,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9547:Aifm3
|
UTSW |
16 |
17,317,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Aifm3
|
UTSW |
16 |
17,321,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Aifm3
|
UTSW |
16 |
17,318,798 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Posted On |
2013-04-17 |
Incidental Mutation