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: 0.190)
|
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 |