Incidental Mutation 'IGL01104:Mtch1'
ID |
53067 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mtch1
|
Ensembl Gene |
ENSMUSG00000024012 |
Gene Name |
mitochondrial carrier 1 |
Synonyms |
2310034O17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
IGL01104
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
29551046-29566908 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29555196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 284
(D284G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095427]
[ENSMUST00000118366]
[ENSMUST00000153658]
|
AlphaFold |
Q791T5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095427
AA Change: D284G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000093077 Gene: ENSMUSG00000024012 AA Change: D284G
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
64 |
N/A |
INTRINSIC |
Pfam:Mito_carr
|
191 |
282 |
4e-10 |
PFAM |
transmembrane domain
|
315 |
337 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118366
AA Change: D284G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113021 Gene: ENSMUSG00000024012 AA Change: D284G
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
64 |
N/A |
INTRINSIC |
Pfam:Mito_carr
|
191 |
282 |
3.7e-10 |
PFAM |
transmembrane domain
|
298 |
320 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127423
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132753
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141319
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151739
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153658
|
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 member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
T |
A |
1: 89,653,797 (GRCm39) |
|
probably benign |
Het |
AU015836 |
A |
T |
X: 93,015,493 (GRCm39) |
D15V |
probably damaging |
Het |
Capns2 |
G |
T |
8: 93,628,383 (GRCm39) |
D91Y |
probably damaging |
Het |
Chd6 |
C |
T |
2: 160,803,847 (GRCm39) |
R2071Q |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,444,266 (GRCm39) |
P1334T |
unknown |
Het |
Dusp12 |
T |
G |
1: 170,702,042 (GRCm39) |
H319P |
probably damaging |
Het |
Emilin3 |
A |
T |
2: 160,751,703 (GRCm39) |
V112E |
probably damaging |
Het |
Eya3 |
T |
A |
4: 132,439,240 (GRCm39) |
F455L |
probably damaging |
Het |
F10 |
G |
A |
8: 13,105,686 (GRCm39) |
G417D |
probably damaging |
Het |
Fat3 |
A |
C |
9: 16,287,024 (GRCm39) |
V833G |
possibly damaging |
Het |
Fat3 |
A |
T |
9: 15,909,756 (GRCm39) |
L2082H |
probably damaging |
Het |
Golga5 |
T |
A |
12: 102,460,073 (GRCm39) |
M667K |
probably damaging |
Het |
Gpr50 |
T |
A |
X: 70,710,833 (GRCm39) |
L305H |
probably damaging |
Het |
Grhl1 |
A |
G |
12: 24,634,453 (GRCm39) |
K217R |
probably damaging |
Het |
Itgb2 |
A |
G |
10: 77,383,028 (GRCm39) |
|
probably null |
Het |
Jag1 |
T |
A |
2: 136,926,298 (GRCm39) |
I1035L |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,406,766 (GRCm39) |
|
probably benign |
Het |
Lima1 |
A |
C |
15: 99,741,581 (GRCm39) |
S32A |
probably damaging |
Het |
Lmod1 |
C |
T |
1: 135,292,522 (GRCm39) |
T459I |
probably damaging |
Het |
Mtus2 |
C |
T |
5: 148,013,819 (GRCm39) |
|
probably null |
Het |
Or7c19 |
A |
G |
8: 85,957,813 (GRCm39) |
T230A |
probably benign |
Het |
Ppl |
T |
C |
16: 4,912,355 (GRCm39) |
Q742R |
probably benign |
Het |
Reln |
T |
C |
5: 22,191,965 (GRCm39) |
R1492G |
probably damaging |
Het |
Rsad1 |
T |
C |
11: 94,434,466 (GRCm39) |
T323A |
possibly damaging |
Het |
Slc22a8 |
A |
G |
19: 8,585,329 (GRCm39) |
T293A |
possibly damaging |
Het |
Smc4 |
T |
C |
3: 68,934,917 (GRCm39) |
I677T |
possibly damaging |
Het |
Ufd1 |
T |
C |
16: 18,633,587 (GRCm39) |
F4S |
probably damaging |
Het |
Usp9x |
T |
C |
X: 13,027,142 (GRCm39) |
V16A |
probably damaging |
Het |
Vmn2r31 |
A |
T |
7: 7,399,565 (GRCm39) |
C131S |
probably damaging |
Het |
Vmn2r65 |
A |
G |
7: 84,589,996 (GRCm39) |
I640T |
possibly damaging |
Het |
Vwf |
T |
C |
6: 125,660,519 (GRCm39) |
C2676R |
probably damaging |
Het |
|
Other mutations in Mtch1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00858:Mtch1
|
APN |
17 |
29,559,430 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02728:Mtch1
|
APN |
17 |
29,557,716 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02935:Mtch1
|
APN |
17 |
29,555,184 (GRCm39) |
missense |
probably benign |
|
R0070:Mtch1
|
UTSW |
17 |
29,559,033 (GRCm39) |
splice site |
probably benign |
|
R0070:Mtch1
|
UTSW |
17 |
29,559,033 (GRCm39) |
splice site |
probably benign |
|
R0243:Mtch1
|
UTSW |
17 |
29,559,080 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1136:Mtch1
|
UTSW |
17 |
29,552,744 (GRCm39) |
splice site |
probably null |
|
R1829:Mtch1
|
UTSW |
17 |
29,557,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:Mtch1
|
UTSW |
17 |
29,561,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R3845:Mtch1
|
UTSW |
17 |
29,561,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R4849:Mtch1
|
UTSW |
17 |
29,566,565 (GRCm39) |
missense |
probably benign |
0.00 |
R5436:Mtch1
|
UTSW |
17 |
29,566,564 (GRCm39) |
missense |
probably benign |
0.44 |
R6234:Mtch1
|
UTSW |
17 |
29,559,485 (GRCm39) |
splice site |
probably null |
|
R6983:Mtch1
|
UTSW |
17 |
29,557,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R7465:Mtch1
|
UTSW |
17 |
29,551,698 (GRCm39) |
missense |
probably benign |
0.00 |
R7939:Mtch1
|
UTSW |
17 |
29,559,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R9244:Mtch1
|
UTSW |
17 |
29,566,626 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2013-06-21 |