Incidental Mutation 'IGL01969:Afg3l1'
ID |
181637 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Afg3l1
|
Ensembl Gene |
ENSMUSG00000031967 |
Gene Name |
AFG3-like AAA ATPase 1 |
Synonyms |
1700047G05Rik, 3110061K15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
IGL01969
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
124204642-124230655 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 124207170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Histidine
at position 74
(P74H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095924
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001520]
[ENSMUST00000098320]
[ENSMUST00000127664]
|
AlphaFold |
Q920A7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001520
AA Change: P74H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001520 Gene: ENSMUSG00000031967 AA Change: P74H
Domain | Start | End | E-Value | Type |
low complexity region
|
79 |
88 |
N/A |
INTRINSIC |
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
Pfam:FtsH_ext
|
141 |
235 |
1.2e-8 |
PFAM |
low complexity region
|
265 |
279 |
N/A |
INTRINSIC |
AAA
|
332 |
471 |
3.67e-24 |
SMART |
Pfam:Peptidase_M41
|
533 |
736 |
6.1e-77 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098320
AA Change: P74H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095924 Gene: ENSMUSG00000031967 AA Change: P74H
Domain | Start | End | E-Value | Type |
low complexity region
|
79 |
88 |
N/A |
INTRINSIC |
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
Pfam:FtsH_ext
|
141 |
235 |
6.5e-9 |
PFAM |
low complexity region
|
265 |
279 |
N/A |
INTRINSIC |
AAA
|
332 |
471 |
3.67e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133606
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150872
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no detectable myelination defects or axonal degeneration in the brain and spinal cord and normal mitochondria in the spinal cord. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aire |
T |
A |
10: 77,878,816 (GRCm39) |
D77V |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,746,872 (GRCm39) |
H571L |
possibly damaging |
Het |
Apol10b |
T |
C |
15: 77,472,885 (GRCm39) |
|
probably null |
Het |
Cacna2d2 |
A |
T |
9: 107,386,415 (GRCm39) |
M181L |
probably benign |
Het |
Ccnl1 |
T |
C |
3: 65,855,908 (GRCm39) |
|
probably benign |
Het |
Chd9 |
A |
G |
8: 91,760,138 (GRCm39) |
E1961G |
possibly damaging |
Het |
Dnajc12 |
C |
A |
10: 63,231,609 (GRCm39) |
H42N |
probably damaging |
Het |
Eml4 |
T |
C |
17: 83,753,409 (GRCm39) |
V248A |
possibly damaging |
Het |
Epha10 |
A |
C |
4: 124,779,670 (GRCm39) |
K172T |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,405,636 (GRCm39) |
Y796H |
probably damaging |
Het |
Gpr176 |
A |
C |
2: 118,110,118 (GRCm39) |
F380L |
probably damaging |
Het |
Guca1a |
A |
T |
17: 47,711,268 (GRCm39) |
M26K |
probably damaging |
Het |
Gucy2g |
T |
G |
19: 55,215,870 (GRCm39) |
M501L |
probably benign |
Het |
Herc2 |
T |
C |
7: 55,835,579 (GRCm39) |
|
probably benign |
Het |
Itgav |
A |
G |
2: 83,633,627 (GRCm39) |
E1028G |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,354,652 (GRCm39) |
T179A |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,538,502 (GRCm39) |
T383A |
probably benign |
Het |
Midn |
A |
G |
10: 79,991,093 (GRCm39) |
T325A |
probably benign |
Het |
Mpdz |
A |
G |
4: 81,276,961 (GRCm39) |
Y788H |
probably damaging |
Het |
Muc1 |
A |
T |
3: 89,139,313 (GRCm39) |
D571V |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,302,499 (GRCm39) |
H316L |
probably benign |
Het |
Nagpa |
T |
C |
16: 5,013,753 (GRCm39) |
K362E |
probably benign |
Het |
Ola1 |
G |
A |
2: 72,930,490 (GRCm39) |
A266V |
probably benign |
Het |
Or1e33 |
T |
C |
11: 73,738,435 (GRCm39) |
N172S |
possibly damaging |
Het |
Or4a47 |
A |
G |
2: 89,666,064 (GRCm39) |
I75T |
probably benign |
Het |
Or5b97 |
C |
A |
19: 12,878,416 (GRCm39) |
A243S |
possibly damaging |
Het |
Otof |
A |
G |
5: 30,539,827 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
C |
16: 17,196,347 (GRCm39) |
V105G |
probably benign |
Het |
Plppr4 |
G |
T |
3: 117,122,008 (GRCm39) |
T190K |
probably damaging |
Het |
Pnpla3 |
G |
A |
15: 84,063,425 (GRCm39) |
A268T |
probably benign |
Het |
Ppp6r2 |
C |
T |
15: 89,159,713 (GRCm39) |
H467Y |
probably damaging |
Het |
Prkd2 |
C |
T |
7: 16,599,682 (GRCm39) |
T715M |
probably damaging |
Het |
Rusc2 |
A |
G |
4: 43,415,738 (GRCm39) |
N348S |
probably benign |
Het |
Ska3 |
A |
G |
14: 58,049,119 (GRCm39) |
V284A |
probably benign |
Het |
Slc23a1 |
A |
T |
18: 35,757,807 (GRCm39) |
V199D |
possibly damaging |
Het |
Slc6a13 |
T |
C |
6: 121,312,601 (GRCm39) |
L445P |
probably damaging |
Het |
Smo |
A |
T |
6: 29,755,171 (GRCm39) |
|
probably null |
Het |
Tmem131 |
A |
G |
1: 36,864,541 (GRCm39) |
L564S |
possibly damaging |
Het |
Ttc23l |
G |
A |
15: 10,551,520 (GRCm39) |
Q69* |
probably null |
Het |
|
Other mutations in Afg3l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Afg3l1
|
APN |
8 |
124,214,128 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01547:Afg3l1
|
APN |
8 |
124,228,090 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01612:Afg3l1
|
APN |
8 |
124,221,592 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01616:Afg3l1
|
APN |
8 |
124,228,746 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01996:Afg3l1
|
APN |
8 |
124,228,633 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02591:Afg3l1
|
APN |
8 |
124,212,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R0370:Afg3l1
|
UTSW |
8 |
124,228,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R1775:Afg3l1
|
UTSW |
8 |
124,219,639 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1817:Afg3l1
|
UTSW |
8 |
124,228,670 (GRCm39) |
missense |
probably damaging |
0.99 |
R2152:Afg3l1
|
UTSW |
8 |
124,221,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R2516:Afg3l1
|
UTSW |
8 |
124,228,693 (GRCm39) |
missense |
probably damaging |
0.99 |
R2844:Afg3l1
|
UTSW |
8 |
124,221,678 (GRCm39) |
intron |
probably benign |
|
R3013:Afg3l1
|
UTSW |
8 |
124,211,416 (GRCm39) |
missense |
probably benign |
0.27 |
R3732:Afg3l1
|
UTSW |
8 |
124,227,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R4565:Afg3l1
|
UTSW |
8 |
124,228,608 (GRCm39) |
nonsense |
probably null |
|
R4603:Afg3l1
|
UTSW |
8 |
124,228,674 (GRCm39) |
missense |
probably benign |
0.43 |
R4888:Afg3l1
|
UTSW |
8 |
124,215,065 (GRCm39) |
critical splice donor site |
probably null |
|
R4932:Afg3l1
|
UTSW |
8 |
124,228,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R4970:Afg3l1
|
UTSW |
8 |
124,225,392 (GRCm39) |
missense |
probably benign |
0.04 |
R5027:Afg3l1
|
UTSW |
8 |
124,216,553 (GRCm39) |
missense |
probably benign |
0.00 |
R5133:Afg3l1
|
UTSW |
8 |
124,216,532 (GRCm39) |
missense |
probably benign |
0.16 |
R5457:Afg3l1
|
UTSW |
8 |
124,216,707 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5911:Afg3l1
|
UTSW |
8 |
124,226,778 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6268:Afg3l1
|
UTSW |
8 |
124,219,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R7116:Afg3l1
|
UTSW |
8 |
124,216,601 (GRCm39) |
missense |
probably damaging |
0.98 |
R7303:Afg3l1
|
UTSW |
8 |
124,228,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R7646:Afg3l1
|
UTSW |
8 |
124,219,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7945:Afg3l1
|
UTSW |
8 |
124,216,661 (GRCm39) |
missense |
probably benign |
0.01 |
R8466:Afg3l1
|
UTSW |
8 |
124,216,648 (GRCm39) |
missense |
probably benign |
0.31 |
R8694:Afg3l1
|
UTSW |
8 |
124,227,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R8806:Afg3l1
|
UTSW |
8 |
124,220,657 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Afg3l1
|
UTSW |
8 |
124,214,981 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Posted On |
2014-05-07 |