Incidental Mutation 'IGL02562:Aifm3'
| ID |
298706 |
| 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 # |
IGL02562
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17307475-17325349 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17324126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 562
(N562S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000023448]
[ENSMUST00000115685]
[ENSMUST00000231292]
[ENSMUST00000232242]
[ENSMUST00000231994]
[ENSMUST00000232372]
|
| 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 |
probably benign
Transcript: ENSMUST00000023448
AA Change: N562S
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763
AA Change: N562S
| 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 benign
Transcript: ENSMUST00000115685
AA Change: N562S
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763
AA Change: N562S
| 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: ENSMUST00000149234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231800
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,144,949 (GRCm39) |
C33R |
probably damaging |
Het |
| Akap14 |
G |
A |
X: 36,427,441 (GRCm39) |
T98M |
possibly damaging |
Het |
| Atp7b |
T |
G |
8: 22,518,101 (GRCm39) |
T234P |
probably benign |
Het |
| Atp8b1 |
T |
A |
18: 64,715,057 (GRCm39) |
Q65L |
probably benign |
Het |
| Bclaf3 |
T |
C |
X: 158,349,434 (GRCm39) |
S600P |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col4a5 |
A |
G |
X: 140,439,671 (GRCm39) |
|
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,335,097 (GRCm39) |
D120G |
probably benign |
Het |
| Gm4953 |
A |
T |
1: 158,996,077 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1r |
G |
T |
5: 124,129,586 (GRCm39) |
|
probably benign |
Het |
| Itga2 |
A |
G |
13: 114,973,106 (GRCm39) |
|
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,619 (GRCm39) |
T85A |
probably benign |
Het |
| Loxl1 |
A |
G |
9: 58,196,199 (GRCm39) |
S607P |
probably damaging |
Het |
| Marchf2 |
G |
A |
17: 33,915,048 (GRCm39) |
T182I |
probably damaging |
Het |
| Mbd1 |
T |
C |
18: 74,409,993 (GRCm39) |
S386P |
probably benign |
Het |
| Meis2 |
C |
A |
2: 115,879,627 (GRCm39) |
G231V |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,496,053 (GRCm39) |
K774E |
probably benign |
Het |
| Or10a2 |
C |
A |
7: 106,673,769 (GRCm39) |
H245N |
probably benign |
Het |
| Or1e26 |
T |
C |
11: 73,480,237 (GRCm39) |
N109S |
probably benign |
Het |
| Or2l5 |
A |
T |
16: 19,333,714 (GRCm39) |
I224N |
possibly damaging |
Het |
| Or51ag1 |
G |
T |
7: 103,155,423 (GRCm39) |
C243* |
probably null |
Het |
| Or8u9 |
T |
G |
2: 86,001,384 (GRCm39) |
Y259S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,778,405 (GRCm39) |
D1813E |
probably damaging |
Het |
| Pdcl2 |
A |
G |
5: 76,467,038 (GRCm39) |
Y52H |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,223,502 (GRCm39) |
T816A |
probably benign |
Het |
| Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
| Pwwp3a |
A |
G |
10: 80,074,729 (GRCm39) |
D438G |
probably damaging |
Het |
| S2bpcox16 |
T |
C |
12: 81,557,616 (GRCm39) |
D63G |
probably damaging |
Het |
| Slc7a2 |
T |
A |
8: 41,368,057 (GRCm39) |
M607K |
probably damaging |
Het |
| Snrpa |
T |
A |
7: 26,891,123 (GRCm39) |
K116M |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,635,996 (GRCm39) |
S737G |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Sspo |
A |
G |
6: 48,467,056 (GRCm39) |
|
probably null |
Het |
| Tubb4a |
C |
A |
17: 57,388,163 (GRCm39) |
E288* |
probably null |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,513 (GRCm39) |
C358S |
probably damaging |
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 |
|
IGL01768:Aifm3
|
APN |
16 |
17,324,141 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
2015-04-16 |
Incidental Mutation