Incidental Mutation 'IGL01996:Afg3l1'
| ID |
182923 |
| 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 # |
IGL01996
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
124204642-124230655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 124228633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 733
(M733R)
|
| 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: M733R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: M733R
| 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 |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
C |
1: 120,078,430 (GRCm39) |
V29A |
possibly damaging |
Het |
| Adarb1 |
A |
G |
10: 77,158,051 (GRCm39) |
L132P |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,121,225 (GRCm39) |
R899C |
probably benign |
Het |
| Arhgap44 |
T |
A |
11: 64,896,322 (GRCm39) |
|
probably benign |
Het |
| Asns |
T |
C |
6: 7,682,378 (GRCm39) |
D189G |
possibly damaging |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,397,852 (GRCm39) |
L564H |
probably damaging |
Het |
| Ccdc167 |
A |
G |
17: 29,924,461 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,230,813 (GRCm39) |
Y353H |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,554,924 (GRCm39) |
S41R |
probably benign |
Het |
| Dpep3 |
T |
C |
8: 106,701,358 (GRCm39) |
N397S |
probably damaging |
Het |
| Eif1 |
T |
C |
11: 100,211,826 (GRCm39) |
I83T |
probably benign |
Het |
| Enah |
A |
T |
1: 181,784,070 (GRCm39) |
W80R |
unknown |
Het |
| F2rl1 |
C |
T |
13: 95,650,432 (GRCm39) |
C150Y |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,434,440 (GRCm39) |
R387G |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,760 (GRCm39) |
T68A |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,740,846 (GRCm39) |
K1412R |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,709,584 (GRCm39) |
S1321G |
probably damaging |
Het |
| H4c11 |
G |
A |
13: 21,919,308 (GRCm39) |
G15S |
unknown |
Het |
| Itgb7 |
C |
T |
15: 102,126,412 (GRCm39) |
G508D |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,895,545 (GRCm39) |
I333T |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,934,542 (GRCm39) |
D2115G |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,442,871 (GRCm39) |
|
probably null |
Het |
| Lrpprc |
A |
G |
17: 85,080,698 (GRCm39) |
Y176H |
probably benign |
Het |
| Mier1 |
T |
C |
4: 102,984,473 (GRCm39) |
S22P |
possibly damaging |
Het |
| Mme |
A |
T |
3: 63,250,970 (GRCm39) |
N337I |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,350,679 (GRCm39) |
Y687C |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,788,419 (GRCm39) |
M373T |
probably damaging |
Het |
| Nudcd1 |
A |
T |
15: 44,269,357 (GRCm39) |
F101Y |
probably benign |
Het |
| Nup133 |
T |
A |
8: 124,673,334 (GRCm39) |
I66L |
probably benign |
Het |
| Or10j7 |
T |
C |
1: 173,011,294 (GRCm39) |
T236A |
probably benign |
Het |
| Or11j4 |
T |
G |
14: 50,631,116 (GRCm39) |
M301R |
probably damaging |
Het |
| Or1e19 |
T |
A |
11: 73,316,794 (GRCm39) |
N5I |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,261,081 (GRCm39) |
|
probably null |
Het |
| Paqr8 |
T |
C |
1: 21,005,628 (GRCm39) |
F261L |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,482,084 (GRCm39) |
E1452G |
probably damaging |
Het |
| Polh |
T |
C |
17: 46,483,927 (GRCm39) |
D446G |
probably benign |
Het |
| Psg19 |
A |
T |
7: 18,523,986 (GRCm39) |
M353K |
possibly damaging |
Het |
| Sap25 |
T |
C |
5: 137,640,080 (GRCm39) |
|
probably null |
Het |
| Sap30l |
C |
T |
11: 57,700,777 (GRCm39) |
R144* |
probably null |
Het |
| Sema6b |
C |
T |
17: 56,438,157 (GRCm39) |
V144M |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,444,837 (GRCm39) |
Y228H |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,230 (GRCm39) |
D946G |
probably damaging |
Het |
| Slc11a1 |
T |
A |
1: 74,415,965 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,423,424 (GRCm39) |
|
probably benign |
Het |
| Tgfb1i1 |
T |
C |
7: 127,848,464 (GRCm39) |
|
probably benign |
Het |
| Tifa |
T |
C |
3: 127,590,229 (GRCm39) |
|
probably benign |
Het |
| Tomm40l |
C |
T |
1: 171,047,224 (GRCm39) |
V265M |
possibly damaging |
Het |
| Trim45 |
C |
A |
3: 100,835,425 (GRCm39) |
Y469* |
probably null |
Het |
| Ttc21a |
G |
T |
9: 119,787,182 (GRCm39) |
A730S |
probably damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,001 (GRCm39) |
D184E |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,832,222 (GRCm39) |
I189N |
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 |
|
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 |
Incidental Mutation