Incidental Mutation 'IGL01863:Afg1l'
ID |
178426 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Afg1l
|
Ensembl Gene |
ENSMUSG00000038302 |
Gene Name |
AFG1 like ATPase |
Synonyms |
Lace1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
IGL01863
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
42188581-42354561 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 42215907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 326
(I326F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041024]
[ENSMUST00000133326]
|
AlphaFold |
Q3V384 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041024
AA Change: I326F
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000036149 Gene: ENSMUSG00000038302 AA Change: I326F
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
Pfam:AFG1_ATPase
|
74 |
432 |
4.4e-110 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133326
|
SMART Domains |
Protein: ENSMUSP00000123510 Gene: ENSMUSG00000038302
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
Pfam:AFG1_ATPase
|
73 |
272 |
2e-64 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149832
|
SMART Domains |
Protein: ENSMUSP00000119620 Gene: ENSMUSG00000038302
Domain | Start | End | E-Value | Type |
Pfam:AFG1_ATPase
|
2 |
80 |
5.3e-29 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151747
AA Change: I193F
|
SMART Domains |
Protein: ENSMUSP00000120389 Gene: ENSMUSG00000038302 AA Change: I193F
Domain | Start | End | E-Value | Type |
Pfam:AFG1_ATPase
|
5 |
300 |
2e-97 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aimp1 |
T |
C |
3: 132,377,853 (GRCm39) |
T171A |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,813 (GRCm39) |
L1564* |
probably null |
Het |
Atp1a1 |
G |
T |
3: 101,499,205 (GRCm39) |
Y131* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,301,338 (GRCm39) |
E2686G |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 72,743,770 (GRCm39) |
V395A |
possibly damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,268,823 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,387,088 (GRCm39) |
Q713R |
probably benign |
Het |
Esf1 |
A |
T |
2: 139,962,599 (GRCm39) |
M824K |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,024,768 (GRCm39) |
|
probably benign |
Het |
Gem |
A |
G |
4: 11,705,980 (GRCm39) |
I23V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,744 (GRCm39) |
E779G |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,552,993 (GRCm39) |
|
probably benign |
Het |
Lipi |
A |
C |
16: 75,347,114 (GRCm39) |
I435R |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,222,617 (GRCm39) |
T551A |
probably damaging |
Het |
Omg |
C |
T |
11: 79,393,050 (GRCm39) |
M269I |
probably benign |
Het |
Optn |
A |
T |
2: 5,026,298 (GRCm39) |
|
probably benign |
Het |
Or5ae2 |
T |
C |
7: 84,505,619 (GRCm39) |
L14P |
probably damaging |
Het |
Pex1 |
A |
G |
5: 3,656,066 (GRCm39) |
T298A |
probably benign |
Het |
Rab27b |
T |
A |
18: 70,122,625 (GRCm39) |
R111S |
probably damaging |
Het |
Rhbdf1 |
T |
G |
11: 32,163,484 (GRCm39) |
E329D |
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,400,695 (GRCm39) |
I176V |
probably benign |
Het |
Slc30a1 |
T |
A |
1: 191,641,196 (GRCm39) |
C281S |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,762,430 (GRCm38) |
C509S |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,872,151 (GRCm39) |
R862G |
probably benign |
Het |
Tbc1d2 |
A |
G |
4: 46,607,064 (GRCm39) |
I782T |
possibly damaging |
Het |
Tent5c |
C |
T |
3: 100,379,980 (GRCm39) |
D259N |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps33b |
T |
C |
7: 79,924,059 (GRCm39) |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,229,790 (GRCm39) |
I54V |
probably benign |
Het |
|
Other mutations in Afg1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02041:Afg1l
|
APN |
10 |
42,330,376 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02309:Afg1l
|
APN |
10 |
42,330,374 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02323:Afg1l
|
APN |
10 |
42,330,506 (GRCm39) |
nonsense |
probably null |
|
IGL03088:Afg1l
|
APN |
10 |
42,302,493 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4458001:Afg1l
|
UTSW |
10 |
42,330,366 (GRCm39) |
nonsense |
probably null |
|
R0969:Afg1l
|
UTSW |
10 |
42,194,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R1665:Afg1l
|
UTSW |
10 |
42,302,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R1703:Afg1l
|
UTSW |
10 |
42,276,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R1766:Afg1l
|
UTSW |
10 |
42,330,491 (GRCm39) |
missense |
probably benign |
0.00 |
R2941:Afg1l
|
UTSW |
10 |
42,354,291 (GRCm39) |
splice site |
probably null |
|
R4846:Afg1l
|
UTSW |
10 |
42,330,490 (GRCm39) |
missense |
probably benign |
0.02 |
R4887:Afg1l
|
UTSW |
10 |
42,330,374 (GRCm39) |
missense |
probably benign |
0.00 |
R5668:Afg1l
|
UTSW |
10 |
42,236,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R5934:Afg1l
|
UTSW |
10 |
42,194,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R6575:Afg1l
|
UTSW |
10 |
42,194,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R6972:Afg1l
|
UTSW |
10 |
42,354,370 (GRCm39) |
missense |
probably benign |
0.00 |
R7270:Afg1l
|
UTSW |
10 |
42,301,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R7271:Afg1l
|
UTSW |
10 |
42,291,544 (GRCm39) |
critical splice donor site |
probably null |
|
R7577:Afg1l
|
UTSW |
10 |
42,194,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R8458:Afg1l
|
UTSW |
10 |
42,302,517 (GRCm39) |
missense |
probably damaging |
0.98 |
R8824:Afg1l
|
UTSW |
10 |
42,314,383 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9032:Afg1l
|
UTSW |
10 |
42,194,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R9085:Afg1l
|
UTSW |
10 |
42,194,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R9443:Afg1l
|
UTSW |
10 |
42,189,587 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Afg1l
|
UTSW |
10 |
42,354,349 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2014-05-07 |