Incidental Mutation 'IGL00858:Mtch1'
| ID |
12116 |
| 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 # |
IGL00858
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
29551046-29566908 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29559430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 74
(D74N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095427]
[ENSMUST00000118366]
[ENSMUST00000153658]
|
| AlphaFold |
Q791T5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095427
AA Change: D186N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093077
Gene: ENSMUSG00000024012
AA Change: D186N
| 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: D186N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113021
Gene: ENSMUSG00000024012
AA Change: D186N
| 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: ENSMUST00000132753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151739
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153658
AA Change: D74N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,967,537 (GRCm39) |
V988M |
probably damaging |
Het |
| Afap1l1 |
G |
A |
18: 61,869,925 (GRCm39) |
T635M |
probably benign |
Het |
| B4galnt1 |
A |
G |
10: 127,003,633 (GRCm39) |
T199A |
probably benign |
Het |
| Ccdc183 |
T |
A |
2: 25,499,783 (GRCm39) |
M378L |
probably benign |
Het |
| Ccser1 |
C |
A |
6: 61,787,649 (GRCm39) |
S134* |
probably null |
Het |
| Cluh |
A |
G |
11: 74,550,431 (GRCm39) |
K248E |
possibly damaging |
Het |
| Cpa6 |
T |
A |
1: 10,554,219 (GRCm39) |
R129S |
probably damaging |
Het |
| Cyp2c29 |
T |
A |
19: 39,296,100 (GRCm39) |
V138D |
probably damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,130,692 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,545,720 (GRCm39) |
N841S |
possibly damaging |
Het |
| Dtwd2 |
A |
T |
18: 49,861,452 (GRCm39) |
I98N |
probably damaging |
Het |
| Fut10 |
G |
T |
8: 31,725,733 (GRCm39) |
V163F |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,455,217 (GRCm39) |
M3L |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,578,493 (GRCm39) |
V1588A |
probably damaging |
Het |
| Pbk |
T |
C |
14: 66,049,373 (GRCm39) |
|
probably benign |
Het |
| Ptcd1 |
A |
T |
5: 145,088,092 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,029,241 (GRCm39) |
I438F |
probably damaging |
Het |
| Tas2r113 |
C |
A |
6: 132,870,115 (GRCm39) |
R48S |
probably benign |
Het |
| Tektl1 |
T |
C |
10: 78,586,403 (GRCm39) |
D216G |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,915,962 (GRCm39) |
|
probably null |
Het |
| Tnnt2 |
G |
A |
1: 135,779,440 (GRCm39) |
V277I |
probably damaging |
Het |
| Twnk |
G |
T |
19: 44,996,065 (GRCm39) |
W166L |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,644,987 (GRCm39) |
L580F |
possibly damaging |
Het |
| Utp20 |
T |
A |
10: 88,645,000 (GRCm39) |
E575D |
probably benign |
Het |
|
| Other mutations in Mtch1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01104:Mtch1
|
APN |
17 |
29,555,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2012-12-06 |
Incidental Mutation