Incidental Mutation 'IGL00417:Afg2a'
ID |
6903 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Afg2a
|
Ensembl Gene |
ENSMUSG00000027722 |
Gene Name |
AFG2 AAA ATPase homolog A |
Synonyms |
2510048F20Rik, Spata5, C78064, Spaf |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00417
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
37474052-37633245 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37505951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 677
(I677V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029277]
[ENSMUST00000108112]
[ENSMUST00000198968]
|
AlphaFold |
Q3UMC0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029277
AA Change: I676V
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029277 Gene: ENSMUSG00000027722 AA Change: I676V
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
CDC48_N
|
44 |
135 |
2.47e-1 |
SMART |
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
AAA
|
385 |
524 |
4.96e-21 |
SMART |
Blast:AAA
|
553 |
622 |
9e-21 |
BLAST |
AAA
|
659 |
797 |
2.48e-21 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108112
AA Change: I677V
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103747 Gene: ENSMUSG00000027722 AA Change: I677V
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
CDC48_N
|
44 |
136 |
1.14e0 |
SMART |
low complexity region
|
277 |
288 |
N/A |
INTRINSIC |
AAA
|
386 |
525 |
4.96e-21 |
SMART |
Blast:AAA
|
554 |
623 |
9e-21 |
BLAST |
AAA
|
660 |
798 |
2.48e-21 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130674
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198968
AA Change: I677V
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143349 Gene: ENSMUSG00000027722 AA Change: I677V
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
CDC48_N
|
44 |
136 |
8.6e-5 |
SMART |
low complexity region
|
277 |
288 |
N/A |
INTRINSIC |
AAA
|
386 |
525 |
8.2e-23 |
SMART |
Blast:AAA
|
554 |
623 |
7e-21 |
BLAST |
AAA
|
660 |
798 |
4e-23 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and mental retardation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,022,982 (GRCm39) |
I39M |
probably benign |
Het |
Acoxl |
G |
A |
2: 127,820,724 (GRCm39) |
C92Y |
probably damaging |
Het |
Actl6b |
G |
T |
5: 137,552,899 (GRCm39) |
R76L |
probably damaging |
Het |
Ank |
T |
C |
15: 27,544,437 (GRCm39) |
M66T |
possibly damaging |
Het |
C6 |
C |
T |
15: 4,789,449 (GRCm39) |
A298V |
possibly damaging |
Het |
Clip4 |
A |
T |
17: 72,156,937 (GRCm39) |
N591Y |
probably damaging |
Het |
Cntnap5b |
T |
C |
1: 99,978,479 (GRCm39) |
I165T |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,990,678 (GRCm39) |
R214H |
probably damaging |
Het |
Eri2 |
G |
A |
7: 119,386,964 (GRCm39) |
T185I |
probably benign |
Het |
Fbxo33 |
A |
G |
12: 59,249,456 (GRCm39) |
V476A |
probably damaging |
Het |
Fer1l4 |
G |
A |
2: 155,861,840 (GRCm39) |
R1826* |
probably null |
Het |
Fyb1 |
A |
T |
15: 6,610,258 (GRCm39) |
K277I |
probably damaging |
Het |
Gli3 |
C |
A |
13: 15,818,884 (GRCm39) |
H229N |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,553,029 (GRCm39) |
I2554V |
probably benign |
Het |
Maml2 |
A |
T |
9: 13,532,900 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,053,692 (GRCm39) |
F930L |
possibly damaging |
Het |
Mmadhc |
T |
C |
2: 50,179,043 (GRCm39) |
D125G |
probably benign |
Het |
Nipbl |
A |
G |
15: 8,396,157 (GRCm39) |
S139P |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,897,614 (GRCm39) |
L6647P |
unknown |
Het |
Ppara |
C |
A |
15: 85,685,268 (GRCm39) |
H406N |
probably benign |
Het |
Psg27 |
T |
A |
7: 18,295,842 (GRCm39) |
H201L |
probably benign |
Het |
Qser1 |
A |
T |
2: 104,617,248 (GRCm39) |
I1188N |
probably damaging |
Het |
Rc3h1 |
T |
C |
1: 160,783,551 (GRCm39) |
|
probably null |
Het |
Septin2 |
C |
T |
1: 93,426,864 (GRCm39) |
H158Y |
probably damaging |
Het |
Snx9 |
C |
A |
17: 5,942,172 (GRCm39) |
Q100K |
probably benign |
Het |
Thnsl2 |
G |
A |
6: 71,108,884 (GRCm39) |
T309I |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,523,571 (GRCm39) |
R125G |
probably damaging |
Het |
Tmem62 |
T |
G |
2: 120,837,445 (GRCm39) |
|
probably null |
Het |
Tnpo3 |
A |
T |
6: 29,578,460 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
T |
9: 8,680,439 (GRCm39) |
D889V |
probably damaging |
Het |
Tubgcp6 |
C |
A |
15: 88,988,211 (GRCm39) |
V913L |
probably benign |
Het |
Uox |
A |
T |
3: 146,333,565 (GRCm39) |
M255L |
probably benign |
Het |
|
Other mutations in Afg2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00472:Afg2a
|
APN |
3 |
37,490,793 (GRCm39) |
missense |
probably benign |
|
IGL02664:Afg2a
|
APN |
3 |
37,490,814 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02797:Afg2a
|
APN |
3 |
37,512,465 (GRCm39) |
splice site |
probably benign |
|
IGL02869:Afg2a
|
APN |
3 |
37,518,694 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02891:Afg2a
|
APN |
3 |
37,480,341 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03065:Afg2a
|
APN |
3 |
37,486,328 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL03121:Afg2a
|
APN |
3 |
37,518,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03178:Afg2a
|
APN |
3 |
37,632,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R0494:Afg2a
|
UTSW |
3 |
37,486,312 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0621:Afg2a
|
UTSW |
3 |
37,486,178 (GRCm39) |
missense |
probably benign |
0.06 |
R0908:Afg2a
|
UTSW |
3 |
37,485,772 (GRCm39) |
splice site |
probably null |
|
R1773:Afg2a
|
UTSW |
3 |
37,493,334 (GRCm39) |
missense |
probably damaging |
0.99 |
R2016:Afg2a
|
UTSW |
3 |
37,632,911 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3714:Afg2a
|
UTSW |
3 |
37,487,358 (GRCm39) |
missense |
probably benign |
|
R3836:Afg2a
|
UTSW |
3 |
37,487,792 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4548:Afg2a
|
UTSW |
3 |
37,486,176 (GRCm39) |
missense |
probably benign |
0.03 |
R4695:Afg2a
|
UTSW |
3 |
37,512,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R4758:Afg2a
|
UTSW |
3 |
37,487,385 (GRCm39) |
missense |
probably benign |
0.01 |
R5009:Afg2a
|
UTSW |
3 |
37,487,426 (GRCm39) |
splice site |
probably benign |
|
R5839:Afg2a
|
UTSW |
3 |
37,518,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R6437:Afg2a
|
UTSW |
3 |
37,582,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R7067:Afg2a
|
UTSW |
3 |
37,485,847 (GRCm39) |
nonsense |
probably null |
|
R7450:Afg2a
|
UTSW |
3 |
37,510,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R7889:Afg2a
|
UTSW |
3 |
37,632,959 (GRCm39) |
missense |
probably benign |
0.01 |
R7898:Afg2a
|
UTSW |
3 |
37,474,620 (GRCm39) |
missense |
probably benign |
0.04 |
R8108:Afg2a
|
UTSW |
3 |
37,485,931 (GRCm39) |
missense |
probably benign |
0.25 |
R8511:Afg2a
|
UTSW |
3 |
37,490,897 (GRCm39) |
missense |
probably damaging |
0.99 |
R8870:Afg2a
|
UTSW |
3 |
37,502,661 (GRCm39) |
missense |
probably benign |
0.35 |
R8941:Afg2a
|
UTSW |
3 |
37,486,142 (GRCm39) |
missense |
probably damaging |
0.97 |
R9475:Afg2a
|
UTSW |
3 |
37,486,058 (GRCm39) |
missense |
probably benign |
|
R9605:Afg2a
|
UTSW |
3 |
37,505,930 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Afg2a
|
UTSW |
3 |
37,485,899 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Posted On |
2012-04-20 |