Incidental Mutation 'IGL03256:Aifm3'
| ID |
414675 |
| 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 # |
IGL03256
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17307475-17325349 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 17324174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 578
(R578Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000023448]
[ENSMUST00000115685]
[ENSMUST00000232372]
[ENSMUST00000232242]
[ENSMUST00000231292]
[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 |
probably benign
Transcript: ENSMUST00000023448
AA Change: R578Q
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763
AA Change: R578Q
| 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: R578Q
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763
AA Change: R578Q
| 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: ENSMUST00000149234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147888
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231800
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
T |
8: 73,199,043 (GRCm39) |
T150I |
probably benign |
Het |
| Adam2 |
T |
C |
14: 66,291,280 (GRCm39) |
N333D |
probably benign |
Het |
| Arid2 |
C |
A |
15: 96,268,643 (GRCm39) |
Q919K |
probably benign |
Het |
| Atp6v1a |
T |
C |
16: 43,931,451 (GRCm39) |
|
probably benign |
Het |
| Bicd1 |
A |
T |
6: 149,415,083 (GRCm39) |
T599S |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 36,960,832 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,409,299 (GRCm39) |
R601W |
probably damaging |
Het |
| Clca3a2 |
A |
C |
3: 144,792,153 (GRCm39) |
S369R |
possibly damaging |
Het |
| Cyfip1 |
T |
G |
7: 55,557,182 (GRCm39) |
V795G |
possibly damaging |
Het |
| Ddb1 |
A |
G |
19: 10,599,225 (GRCm39) |
T544A |
probably benign |
Het |
| Defb43 |
T |
C |
14: 63,255,329 (GRCm39) |
I54T |
probably damaging |
Het |
| Dera |
A |
G |
6: 137,756,643 (GRCm39) |
M89V |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,830,923 (GRCm39) |
K427I |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,483,838 (GRCm39) |
I400V |
probably benign |
Het |
| Gk5 |
T |
A |
9: 96,011,106 (GRCm39) |
L72H |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,504,445 (GRCm39) |
Y133F |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,455,069 (GRCm39) |
L662P |
probably damaging |
Het |
| Hecw1 |
G |
T |
13: 14,455,070 (GRCm39) |
L662M |
probably benign |
Het |
| Il12b |
T |
A |
11: 44,298,757 (GRCm39) |
S71T |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,395,538 (GRCm39) |
|
probably benign |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,974 (GRCm39) |
R83G |
possibly damaging |
Het |
| Magel2 |
C |
A |
7: 62,030,162 (GRCm39) |
T1022K |
unknown |
Het |
| Mycbp2 |
C |
A |
14: 103,426,025 (GRCm39) |
V2367F |
possibly damaging |
Het |
| Nap1l3 |
C |
T |
X: 121,305,905 (GRCm39) |
G271D |
probably benign |
Het |
| Nars2 |
T |
A |
7: 96,689,117 (GRCm39) |
D346E |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,121,613 (GRCm39) |
E435D |
probably damaging |
Het |
| Nfam1 |
C |
T |
15: 82,894,611 (GRCm39) |
G205R |
probably benign |
Het |
| Or10aa1 |
T |
C |
1: 173,869,774 (GRCm39) |
L86P |
probably damaging |
Het |
| Or1e35 |
A |
T |
11: 73,797,522 (GRCm39) |
N265K |
probably benign |
Het |
| Or5b118 |
T |
A |
19: 13,448,631 (GRCm39) |
M99K |
probably damaging |
Het |
| Otud3 |
G |
A |
4: 138,636,928 (GRCm39) |
R78W |
probably damaging |
Het |
| Oxct2a |
C |
T |
4: 123,216,758 (GRCm39) |
A208T |
probably damaging |
Het |
| Pcdh11x |
A |
T |
X: 119,310,607 (GRCm39) |
E683D |
probably benign |
Het |
| Phtf2 |
C |
A |
5: 21,008,250 (GRCm39) |
V144L |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,509,311 (GRCm39) |
|
probably null |
Het |
| Puf60 |
T |
A |
15: 75,942,445 (GRCm39) |
D459V |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,302,632 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
A |
C |
11: 54,548,255 (GRCm39) |
Q813P |
probably damaging |
Het |
| Rsf1 |
A |
T |
7: 97,328,211 (GRCm39) |
D1071V |
possibly damaging |
Het |
| Sctr |
T |
C |
1: 119,959,289 (GRCm39) |
|
probably benign |
Het |
| Serpini1 |
A |
G |
3: 75,526,481 (GRCm39) |
I244M |
probably benign |
Het |
| Tada2a |
C |
A |
11: 83,978,018 (GRCm39) |
|
probably benign |
Het |
| Tada3 |
A |
T |
6: 113,352,092 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Tnxb |
T |
A |
17: 34,907,694 (GRCm39) |
L1246Q |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,389,353 (GRCm39) |
N449S |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,370,090 (GRCm39) |
Y1771* |
probably null |
Het |
| Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
| Virma |
T |
C |
4: 11,542,207 (GRCm39) |
|
probably benign |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,725 (GRCm39) |
I112N |
probably damaging |
Het |
| Vnn3 |
A |
T |
10: 23,727,698 (GRCm39) |
|
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation