Incidental Mutation 'IGL01663:Aifm3'
| ID |
103247 |
| 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: 0.193)
|
| Stock # |
IGL01663
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17307475-17325349 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 17320650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023448]
[ENSMUST00000115685]
|
| AlphaFold |
Q3TY86 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023448
|
| SMART Domains |
Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763
| 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 null
Transcript: ENSMUST00000115685
|
| SMART Domains |
Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763
| 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: ENSMUST00000232359
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231800
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232421
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,168,628 (GRCm39) |
I1085V |
possibly damaging |
Het |
| Adamts16 |
T |
C |
13: 70,941,260 (GRCm39) |
T376A |
probably benign |
Het |
| Ankrd16 |
A |
G |
2: 11,783,473 (GRCm39) |
E25G |
probably damaging |
Het |
| Ano6 |
T |
A |
15: 95,865,495 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
T |
C |
15: 23,446,077 (GRCm39) |
I509T |
possibly damaging |
Het |
| Cdon |
A |
G |
9: 35,394,510 (GRCm39) |
T919A |
possibly damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,522,916 (GRCm39) |
P148L |
probably damaging |
Het |
| Dnph1 |
G |
T |
17: 46,809,408 (GRCm39) |
R74L |
probably benign |
Het |
| Epha6 |
C |
T |
16: 59,596,007 (GRCm39) |
A895T |
probably damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,395,845 (GRCm39) |
|
probably benign |
Het |
| Fbll1 |
A |
G |
11: 35,688,648 (GRCm39) |
I205T |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,424,434 (GRCm39) |
H3001L |
probably damaging |
Het |
| Galk2 |
A |
G |
2: 125,825,099 (GRCm39) |
N432D |
probably benign |
Het |
| Gm7535 |
A |
C |
17: 18,131,619 (GRCm39) |
|
probably benign |
Het |
| Il10 |
A |
G |
1: 130,949,151 (GRCm39) |
E104G |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,146,637 (GRCm39) |
K152R |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,227,213 (GRCm39) |
N568K |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,515,668 (GRCm39) |
L2725R |
probably damaging |
Het |
| Krba1 |
G |
T |
6: 48,388,688 (GRCm39) |
L527F |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,259,050 (GRCm39) |
S4547P |
probably benign |
Het |
| Nin |
G |
T |
12: 70,090,439 (GRCm39) |
A992E |
possibly damaging |
Het |
| Or11g7 |
G |
A |
14: 50,690,607 (GRCm39) |
V33M |
probably benign |
Het |
| Or5p81 |
T |
A |
7: 108,267,098 (GRCm39) |
H158Q |
probably benign |
Het |
| Pcdhb1 |
A |
G |
18: 37,400,186 (GRCm39) |
I712M |
possibly damaging |
Het |
| Prmt2 |
C |
T |
10: 76,053,143 (GRCm39) |
|
probably null |
Het |
| Rbm20 |
T |
G |
19: 53,829,426 (GRCm39) |
V608G |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,324,846 (GRCm39) |
|
probably benign |
Het |
| Speer3 |
A |
T |
5: 13,843,236 (GRCm39) |
R48* |
probably null |
Het |
| Tlr1 |
A |
T |
5: 65,082,416 (GRCm39) |
N720K |
possibly damaging |
Het |
| Tnfrsf21 |
A |
T |
17: 43,398,702 (GRCm39) |
M603L |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,210,590 (GRCm39) |
|
probably null |
Het |
| Usp4 |
C |
A |
9: 108,243,079 (GRCm39) |
A249E |
possibly damaging |
Het |
| Wdr20 |
T |
A |
12: 110,759,948 (GRCm39) |
V278E |
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 |
|
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 |
2014-01-21 |
Incidental Mutation