Incidental Mutation 'R8694:Afg3l1'
ID |
668570 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afg3l1
|
Ensembl Gene |
ENSMUSG00000031967 |
Gene Name |
AFG3-like AAA ATPase 1 |
Synonyms |
1700047G05Rik, 3110061K15Rik |
MMRRC Submission |
068548-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R8694 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
124204642-124230655 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124227973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 586
(V586A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001520
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001520]
[ENSMUST00000098320]
[ENSMUST00000127664]
[ENSMUST00000176155]
[ENSMUST00000176286]
[ENSMUST00000177240]
|
AlphaFold |
Q920A7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001520
AA Change: V586A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000001520 Gene: ENSMUSG00000031967 AA Change: V586A
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 |
silent
Transcript: ENSMUST00000098320
|
SMART Domains |
Protein: ENSMUSP00000095924 Gene: ENSMUSG00000031967
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 |
probably benign
Transcript: ENSMUST00000176155
|
SMART Domains |
Protein: ENSMUSP00000135524 Gene: ENSMUSG00000031970
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
Pfam:Dysbindin
|
44 |
189 |
3.6e-61 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176286
|
SMART Domains |
Protein: ENSMUSP00000134757 Gene: ENSMUSG00000031970
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
Pfam:Dysbindin
|
44 |
96 |
3.1e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177240
|
SMART Domains |
Protein: ENSMUSP00000135216 Gene: ENSMUSG00000031970
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
Pfam:Dysbindin
|
44 |
101 |
4.5e-10 |
PFAM |
Pfam:Dysbindin
|
96 |
142 |
2.7e-14 |
PFAM |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (51/52) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adar |
T |
C |
3: 89,642,950 (GRCm39) |
L277P |
probably damaging |
Het |
Adgrb3 |
C |
A |
1: 25,865,472 (GRCm39) |
D124Y |
probably damaging |
Het |
Afdn |
T |
C |
17: 14,108,641 (GRCm39) |
V1403A |
probably benign |
Het |
Ajm1 |
A |
G |
2: 25,469,831 (GRCm39) |
S27P |
possibly damaging |
Het |
Aloxe3 |
A |
G |
11: 69,033,677 (GRCm39) |
D597G |
probably damaging |
Het |
Asb15 |
T |
C |
6: 24,570,666 (GRCm39) |
V548A |
probably benign |
Het |
Atp6v1a |
C |
T |
16: 43,921,991 (GRCm39) |
R388Q |
probably damaging |
Het |
Btbd8 |
A |
G |
5: 107,658,635 (GRCm39) |
D1735G |
probably benign |
Het |
C130074G19Rik |
G |
A |
1: 184,615,184 (GRCm39) |
T2M |
probably damaging |
Het |
Ccdc187 |
T |
C |
2: 26,165,505 (GRCm39) |
T884A |
probably benign |
Het |
Cdk5rap1 |
G |
A |
2: 154,195,148 (GRCm39) |
R356* |
probably null |
Het |
Cebpz |
A |
T |
17: 79,234,334 (GRCm39) |
H725Q |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,314,176 (GRCm39) |
D1283G |
probably damaging |
Het |
Cldn11 |
G |
T |
3: 31,217,239 (GRCm39) |
V136F |
probably damaging |
Het |
Cpxm2 |
T |
C |
7: 131,681,783 (GRCm39) |
N249D |
probably benign |
Het |
Ctsz |
T |
C |
2: 174,280,072 (GRCm39) |
N67D |
probably benign |
Het |
Drd3 |
A |
C |
16: 43,643,075 (GRCm39) |
H405P |
probably damaging |
Het |
F2rl2 |
T |
C |
13: 95,837,339 (GRCm39) |
V128A |
probably benign |
Het |
Fh1 |
C |
T |
1: 175,448,126 (GRCm39) |
P43S |
probably benign |
Het |
Fndc7 |
C |
T |
3: 108,779,622 (GRCm39) |
W307* |
probably null |
Het |
Gmip |
G |
T |
8: 70,270,485 (GRCm39) |
V732L |
probably benign |
Het |
Heatr4 |
A |
G |
12: 84,027,038 (GRCm39) |
F73S |
probably damaging |
Het |
Iqcf4 |
T |
C |
9: 106,448,111 (GRCm39) |
|
probably benign |
Het |
Itln1 |
T |
A |
1: 171,359,279 (GRCm39) |
Q67L |
probably damaging |
Het |
Jak1 |
A |
G |
4: 101,013,704 (GRCm39) |
V1008A |
probably damaging |
Het |
Kcnh1 |
A |
T |
1: 191,921,031 (GRCm39) |
|
probably benign |
Het |
Kcnu1 |
T |
G |
8: 26,342,101 (GRCm39) |
|
probably benign |
Het |
Kif1b |
A |
G |
4: 149,305,024 (GRCm39) |
S967P |
probably damaging |
Het |
Klra17 |
A |
G |
6: 129,851,780 (GRCm39) |
S31P |
probably benign |
Het |
Kmt2d |
C |
T |
15: 98,742,615 (GRCm39) |
E4182K |
unknown |
Het |
Lama5 |
T |
C |
2: 179,822,677 (GRCm39) |
D2825G |
probably damaging |
Het |
Lmtk2 |
T |
C |
5: 144,108,566 (GRCm39) |
V336A |
probably damaging |
Het |
Mad1l1 |
A |
G |
5: 140,074,438 (GRCm39) |
I584T |
probably benign |
Het |
Magea1 |
T |
A |
X: 153,871,787 (GRCm39) |
N313I |
possibly damaging |
Het |
Mapt |
T |
C |
11: 104,189,440 (GRCm39) |
S153P |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,291,172 (GRCm39) |
Y988H |
probably benign |
Het |
Ndufc2 |
A |
T |
7: 97,049,403 (GRCm39) |
N3I |
probably benign |
Het |
Nos2 |
T |
A |
11: 78,836,515 (GRCm39) |
V531D |
possibly damaging |
Het |
Npbwr1 |
T |
A |
1: 5,986,617 (GRCm39) |
Y299F |
probably damaging |
Het |
Or4a39 |
A |
G |
2: 89,237,378 (GRCm39) |
L15P |
probably damaging |
Het |
Or4a70 |
A |
G |
2: 89,324,171 (GRCm39) |
Y162H |
possibly damaging |
Het |
Or52n20 |
G |
T |
7: 104,320,296 (GRCm39) |
C129F |
probably damaging |
Het |
Or8h10 |
G |
A |
2: 86,808,591 (GRCm39) |
P183L |
probably damaging |
Het |
Pp2d1 |
T |
C |
17: 53,815,191 (GRCm39) |
Y511C |
probably benign |
Het |
Psmb4 |
T |
C |
3: 94,793,435 (GRCm39) |
N149D |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,901,516 (GRCm39) |
K717R |
probably damaging |
Het |
Slc25a11 |
T |
C |
11: 70,535,630 (GRCm39) |
M303V |
probably benign |
Het |
Spesp1 |
A |
T |
9: 62,180,242 (GRCm39) |
M222K |
probably benign |
Het |
Tmem132d |
A |
G |
5: 127,869,495 (GRCm39) |
M613T |
probably benign |
Het |
Ugt2a2 |
A |
G |
5: 87,612,029 (GRCm39) |
F294L |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,434,161 (GRCm39) |
T3246A |
|
Het |
Zfp750 |
T |
A |
11: 121,404,456 (GRCm39) |
I140F |
possibly damaging |
Het |
Zscan4e |
A |
T |
7: 11,041,574 (GRCm39) |
H127Q |
possibly damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTCACAAAATCTAGGCTTTG -3'
(R):5'- GTAAGTGGTGTCCAAGGCAG -3'
Sequencing Primer
(F):5'- AAGCCGAAGCCAGTGTTCTTC -3'
(R):5'- AGAGGGACACTGCTCCTCAC -3'
|
Posted On |
2021-04-30 |