Incidental Mutation 'IGL01768:Aifm3'
| ID |
154004 |
| 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 # |
IGL01768
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17307475-17325349 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17324141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 567
(V567A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000023448]
[ENSMUST00000115685]
[ENSMUST00000231292]
[ENSMUST00000232372]
[ENSMUST00000232242]
[ENSMUST00000231994]
|
| AlphaFold |
Q3TY86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023444
|
| SMART Domains |
Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_6
|
64 |
103 |
1.1e-7 |
PFAM |
|
Pfam:Kelch_1
|
64 |
105 |
1.7e-7 |
PFAM |
|
Pfam:Kelch_4
|
64 |
113 |
4.7e-10 |
PFAM |
|
Pfam:Kelch_3
|
74 |
123 |
3.1e-10 |
PFAM |
|
Pfam:Kelch_5
|
111 |
152 |
7.2e-9 |
PFAM |
|
Pfam:Kelch_1
|
114 |
161 |
2.8e-7 |
PFAM |
|
Pfam:Kelch_2
|
114 |
163 |
1e-7 |
PFAM |
|
Pfam:Kelch_4
|
114 |
170 |
1.9e-6 |
PFAM |
|
Pfam:Kelch_3
|
124 |
180 |
9.1e-9 |
PFAM |
|
Pfam:Kelch_4
|
171 |
224 |
6.1e-6 |
PFAM |
|
Pfam:Kelch_3
|
181 |
232 |
6e-7 |
PFAM |
|
Pfam:Kelch_1
|
224 |
267 |
1e-6 |
PFAM |
|
Pfam:Kelch_4
|
225 |
278 |
6.2e-6 |
PFAM |
|
Pfam:Kelch_3
|
234 |
289 |
2.2e-8 |
PFAM |
|
Pfam:Kelch_1
|
280 |
325 |
7.7e-10 |
PFAM |
|
Pfam:Kelch_2
|
280 |
325 |
4.3e-7 |
PFAM |
|
Pfam:Kelch_6
|
280 |
325 |
9.6e-9 |
PFAM |
|
Pfam:Kelch_4
|
280 |
329 |
2.5e-8 |
PFAM |
|
BTB
|
440 |
571 |
4.16e-4 |
SMART |
|
BTB
|
664 |
765 |
2.95e-18 |
SMART |
|
low complexity region
|
808 |
821 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023448
AA Change: V567A
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763
AA Change: V567A
| 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 |
possibly damaging
Transcript: ENSMUST00000115685
AA Change: V567A
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763
AA Change: V567A
| 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: ENSMUST00000138223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231800
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232372
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arnt |
T |
C |
3: 95,398,327 (GRCm39) |
|
probably benign |
Het |
| C8b |
G |
A |
4: 104,644,151 (GRCm39) |
E273K |
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,774,480 (GRCm39) |
R570H |
probably damaging |
Het |
| Cdh9 |
A |
T |
15: 16,778,311 (GRCm39) |
D42V |
possibly damaging |
Het |
| Cdk17 |
T |
C |
10: 93,044,123 (GRCm39) |
S21P |
probably damaging |
Het |
| Cdkl3 |
T |
A |
11: 51,916,744 (GRCm39) |
F291I |
probably damaging |
Het |
| Cfap210 |
A |
T |
2: 69,612,471 (GRCm39) |
|
probably benign |
Het |
| Clmn |
T |
C |
12: 104,747,978 (GRCm39) |
E523G |
probably damaging |
Het |
| Cyp4f14 |
A |
T |
17: 33,126,976 (GRCm39) |
I318N |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 72,036,659 (GRCm39) |
F1068L |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,621,455 (GRCm39) |
|
probably benign |
Het |
| F5 |
T |
A |
1: 164,003,914 (GRCm39) |
F236L |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,394 (GRCm39) |
V3606A |
probably damaging |
Het |
| Gpam |
G |
A |
19: 55,075,952 (GRCm39) |
T220M |
probably benign |
Het |
| Hyal1 |
C |
A |
9: 107,456,338 (GRCm39) |
L342I |
probably damaging |
Het |
| Ilvbl |
C |
A |
10: 78,419,127 (GRCm39) |
P459T |
possibly damaging |
Het |
| Itga5 |
A |
G |
15: 103,259,997 (GRCm39) |
Y632H |
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,899 (GRCm39) |
L217M |
possibly damaging |
Het |
| Krt73 |
T |
C |
15: 101,707,291 (GRCm39) |
D299G |
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,461,573 (GRCm39) |
V522A |
probably benign |
Het |
| Lmo3 |
A |
G |
6: 138,393,495 (GRCm39) |
C53R |
probably damaging |
Het |
| Nsun7 |
T |
C |
5: 66,436,043 (GRCm39) |
V305A |
probably benign |
Het |
| Oprm1 |
T |
C |
10: 6,779,186 (GRCm39) |
S196P |
probably damaging |
Het |
| Or2y1e |
G |
A |
11: 49,218,958 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or4z4 |
A |
T |
19: 12,076,403 (GRCm39) |
I200N |
probably damaging |
Het |
| Or7e168 |
G |
A |
9: 19,720,456 (GRCm39) |
V281M |
possibly damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,888,667 (GRCm39) |
|
probably null |
Het |
| Pcdhb20 |
T |
C |
18: 37,639,768 (GRCm39) |
F765L |
possibly damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,547,664 (GRCm39) |
V3A |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,474,253 (GRCm39) |
I419V |
probably benign |
Het |
| Scara5 |
T |
A |
14: 65,927,224 (GRCm39) |
C40* |
probably null |
Het |
| Siglec1 |
T |
C |
2: 130,916,314 (GRCm39) |
Q1212R |
probably benign |
Het |
| Slc31a1 |
G |
A |
4: 62,306,273 (GRCm39) |
|
probably null |
Het |
| Sparc |
G |
T |
11: 55,296,069 (GRCm39) |
N87K |
probably damaging |
Het |
| Tcf12 |
T |
C |
9: 71,776,278 (GRCm39) |
|
probably null |
Het |
| Timm44 |
A |
T |
8: 4,316,860 (GRCm39) |
F258I |
probably benign |
Het |
| Tm2d2 |
G |
T |
8: 25,508,095 (GRCm39) |
V80L |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,320,199 (GRCm39) |
D2249G |
possibly damaging |
Het |
| Trim50 |
G |
T |
5: 135,392,736 (GRCm39) |
G217V |
possibly damaging |
Het |
| Ugcg |
T |
C |
4: 59,217,216 (GRCm39) |
|
probably null |
Het |
| Vmn2r107 |
A |
T |
17: 20,565,868 (GRCm39) |
H61L |
probably benign |
Het |
| Zfp84 |
A |
G |
7: 29,476,091 (GRCm39) |
H261R |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,748,301 (GRCm39) |
M293K |
probably benign |
Het |
|
| Other mutations in Aifm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Aifm3
|
APN |
16 |
17,318,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation