Incidental Mutation 'IGL02591:Afg3l1'
| ID |
299743 |
| 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: 0.074)
|
| Stock # |
IGL02591
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
124204642-124230655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124212748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 170
(F170L)
|
| 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: F170L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: F170L
| 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: F170L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095924
Gene: ENSMUSG00000031967
AA Change: F170L
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
T |
2: 19,485,249 (GRCm39) |
F448I |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,398,158 (GRCm39) |
R1300* |
probably null |
Het |
| Cadps |
G |
A |
14: 12,473,465 (GRCm38) |
R899C |
probably damaging |
Het |
| Ckap4 |
T |
C |
10: 84,364,454 (GRCm39) |
D203G |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,249 (GRCm39) |
N433D |
probably damaging |
Het |
| Eapp |
T |
C |
12: 54,739,607 (GRCm39) |
N70S |
probably damaging |
Het |
| Eno3 |
A |
T |
11: 70,552,853 (GRCm39) |
D378V |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,881,638 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,082,031 (GRCm39) |
I558F |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,776,786 (GRCm39) |
M234K |
possibly damaging |
Het |
| Fgfr1op2 |
A |
G |
6: 146,490,344 (GRCm39) |
Q81R |
probably damaging |
Het |
| Gpm6a |
C |
T |
8: 55,511,954 (GRCm39) |
A276V |
probably damaging |
Het |
| Hecw1 |
C |
A |
13: 14,531,821 (GRCm39) |
|
probably benign |
Het |
| Ikbip |
G |
T |
10: 90,932,154 (GRCm39) |
C266F |
probably damaging |
Het |
| Lpar2 |
C |
T |
8: 70,276,700 (GRCm39) |
A163V |
probably benign |
Het |
| Med17 |
T |
A |
9: 15,181,657 (GRCm39) |
H31L |
probably damaging |
Het |
| Or5g25 |
C |
A |
2: 85,478,487 (GRCm39) |
M59I |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,755,053 (GRCm39) |
F992L |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,900,287 (GRCm39) |
H864R |
probably damaging |
Het |
| Samd9l |
A |
C |
6: 3,375,760 (GRCm39) |
C500W |
possibly damaging |
Het |
| Sarm1 |
A |
T |
11: 78,378,178 (GRCm39) |
Y501N |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,957,702 (GRCm39) |
H277L |
probably damaging |
Het |
| Slc39a8 |
T |
G |
3: 135,590,381 (GRCm39) |
L358R |
probably damaging |
Het |
| Spi1 |
T |
A |
2: 90,927,295 (GRCm39) |
M1K |
probably null |
Het |
| Thsd1 |
A |
G |
8: 22,748,743 (GRCm39) |
E477G |
probably damaging |
Het |
| Tlr1 |
C |
T |
5: 65,084,059 (GRCm39) |
V173M |
probably damaging |
Het |
| Tmco2 |
C |
T |
4: 120,962,987 (GRCm39) |
D171N |
probably damaging |
Het |
| Ugt2b1 |
A |
G |
5: 87,065,563 (GRCm39) |
L492P |
probably damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,153 (GRCm39) |
I333K |
probably damaging |
Het |
| Zfp598 |
C |
A |
17: 24,896,478 (GRCm39) |
P185Q |
probably damaging |
Het |
| Zfp711 |
T |
A |
X: 111,542,391 (GRCm39) |
M474K |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,509,206 (GRCm39) |
|
probably benign |
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 |
|
IGL01969:Afg3l1
|
APN |
8 |
124,207,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01996:Afg3l1
|
APN |
8 |
124,228,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation