Incidental Mutation 'R4565:Afg3l1'
| ID |
343289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afg3l1
|
| Ensembl Gene |
ENSMUSG00000031967 |
| Gene Name |
AFG3-like AAA ATPase 1 |
| Synonyms |
1700047G05Rik, 3110061K15Rik |
| MMRRC Submission |
041790-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4565 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124204642-124230655 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 124228608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 725
(K725*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001520]
[ENSMUST00000098320]
[ENSMUST00000127664]
[ENSMUST00000176155]
[ENSMUST00000176286]
[ENSMUST00000177240]
|
| AlphaFold |
Q920A7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001520
AA Change: K725*
|
| SMART Domains |
Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: K725*
| 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: ENSMUST00000146795
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152469
|
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,375,806 (GRCm39) |
|
probably benign |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Alkbh1 |
T |
C |
12: 87,478,236 (GRCm39) |
D225G |
probably damaging |
Het |
| Anxa2 |
A |
T |
9: 69,397,019 (GRCm39) |
K241M |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,963,836 (GRCm39) |
T1786M |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,432,114 (GRCm39) |
E208G |
probably damaging |
Het |
| Dcdc2b |
T |
C |
4: 129,504,778 (GRCm39) |
T118A |
probably benign |
Het |
| Dhx35 |
C |
A |
2: 158,691,455 (GRCm39) |
A646E |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,301,163 (GRCm39) |
D173E |
possibly damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,343,684 (GRCm39) |
L487Q |
probably null |
Het |
| Gtse1 |
T |
G |
15: 85,759,385 (GRCm39) |
V631G |
probably damaging |
Het |
| Haspin |
G |
A |
11: 73,028,445 (GRCm39) |
L215F |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,803,586 (GRCm39) |
V2207A |
possibly damaging |
Het |
| Jph1 |
A |
G |
1: 17,074,426 (GRCm39) |
Y531H |
possibly damaging |
Het |
| Limk2 |
A |
G |
11: 3,298,634 (GRCm39) |
I261T |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,909,104 (GRCm39) |
F281L |
probably damaging |
Het |
| Or2a25 |
A |
T |
6: 42,888,472 (GRCm39) |
Q5L |
probably benign |
Het |
| Or7a40 |
C |
A |
16: 16,491,557 (GRCm39) |
G96V |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,523 (GRCm39) |
T438A |
probably benign |
Het |
| Pfdn5 |
T |
C |
15: 102,235,220 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,287,680 (GRCm39) |
C158R |
possibly damaging |
Het |
| Rbmxl1 |
G |
A |
8: 79,232,639 (GRCm39) |
P235S |
probably benign |
Het |
| Slc9b1 |
G |
T |
3: 135,088,478 (GRCm39) |
V280F |
probably damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,965,233 (GRCm39) |
I1576T |
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,803,236 (GRCm39) |
V893D |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,408,826 (GRCm39) |
N583K |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,039,588 (GRCm39) |
C396R |
probably 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 |
|
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'- TATAATCGGACCCTGGAGCTG -3'
(R):5'- TCAGCAGTGGTCATAAGCC -3'
Sequencing Primer
(F):5'- TGGAGCTGCTCACACAGTG -3'
(R):5'- ACAGGCTACACAGGGCTCTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation