Incidental Mutation 'R2844:Afg3l1'
| ID |
251434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afg3l1
|
| Ensembl Gene |
ENSMUSG00000031967 |
| Gene Name |
AFG3-like AAA ATPase 1 |
| Synonyms |
1700047G05Rik, 3110061K15Rik |
| MMRRC Submission |
040437-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R2844 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124204642-124230655 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 124221678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001520]
[ENSMUST00000098320]
[ENSMUST00000127664]
|
| AlphaFold |
Q920A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001520
|
| SMART Domains |
Protein: ENSMUSP00000001520
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 |
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000152469
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (42/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
G |
A |
3: 59,843,830 (GRCm39) |
V175I |
probably benign |
Het |
| Abcb1a |
A |
T |
5: 8,736,164 (GRCm39) |
I186F |
probably benign |
Het |
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Ccdc50 |
A |
G |
16: 27,225,479 (GRCm39) |
E64G |
probably damaging |
Het |
| Celsr3 |
G |
T |
9: 108,706,507 (GRCm39) |
G997W |
probably damaging |
Het |
| Chd8 |
C |
T |
14: 52,441,952 (GRCm39) |
E2138K |
possibly damaging |
Het |
| Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
| Dnaaf11 |
A |
G |
15: 66,319,525 (GRCm39) |
|
probably benign |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Fzr1 |
G |
T |
10: 81,205,252 (GRCm39) |
T159K |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gna13 |
T |
C |
11: 109,253,951 (GRCm39) |
I51T |
probably damaging |
Het |
| Gorab |
A |
G |
1: 163,224,375 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Ints6 |
A |
G |
14: 62,942,275 (GRCm39) |
V486A |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,779,709 (GRCm39) |
K331R |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Med14 |
A |
T |
X: 12,550,235 (GRCm39) |
H684Q |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,645,357 (GRCm39) |
L755P |
probably damaging |
Het |
| Pex14 |
A |
T |
4: 149,047,968 (GRCm39) |
I203N |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,168,657 (GRCm39) |
E691G |
probably damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Pnoc |
A |
T |
14: 65,642,284 (GRCm39) |
F160I |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
| Ppil6 |
A |
T |
10: 41,377,689 (GRCm39) |
|
probably benign |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,795,173 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,784,186 (GRCm39) |
|
probably benign |
Het |
| Rnase11 |
A |
G |
14: 51,287,227 (GRCm39) |
L109S |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,368,678 (GRCm39) |
T404A |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
| Sema5b |
A |
G |
16: 35,480,301 (GRCm39) |
N656S |
probably damaging |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Thbs1 |
C |
T |
2: 117,948,109 (GRCm39) |
T423I |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,206,419 (GRCm39) |
Y243* |
probably null |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zfp648 |
A |
T |
1: 154,080,881 (GRCm39) |
K347* |
probably null |
Het |
| Zfp84 |
T |
G |
7: 29,474,758 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACATGTTGGAGGCAGGAG -3'
(R):5'- TAGAAATCCACAAACTCAGATGGG -3'
Sequencing Primer
(F):5'- TGAGTAGTTATGAGGAAACCCATCCC -3'
(R):5'- GGTACCAACTGGCATTAAACTAAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation