Incidental Mutation 'R0593:Mtx2'
| ID |
56049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtx2
|
| Ensembl Gene |
ENSMUSG00000027099 |
| Gene Name |
metaxin 2 |
| Synonyms |
1500012G02Rik |
| MMRRC Submission |
038783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R0593 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
74656156-74707092 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 74699780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028511]
|
| AlphaFold |
O88441 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028511
|
| SMART Domains |
Protein: ENSMUSP00000028511
Gene: ENSMUSG00000027099
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_C_3
|
99 |
251 |
3.3e-21 |
PFAM |
|
Pfam:GST_C_2
|
165 |
248 |
6.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155844
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,958,925 (GRCm39) |
D733G |
probably damaging |
Het |
| Acmsd |
T |
C |
1: 127,666,340 (GRCm39) |
|
probably benign |
Het |
| Adam34 |
T |
C |
8: 44,104,724 (GRCm39) |
Y307C |
possibly damaging |
Het |
| Alox12e |
A |
G |
11: 70,211,723 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,537,156 (GRCm39) |
G29* |
probably null |
Het |
| Arhgap17 |
T |
C |
7: 122,885,966 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,802,619 (GRCm39) |
M141T |
probably benign |
Het |
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bsn |
A |
T |
9: 107,987,505 (GRCm39) |
I2749N |
unknown |
Het |
| Cds2 |
G |
A |
2: 132,139,296 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,001,757 (GRCm39) |
V384A |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,413,683 (GRCm39) |
S71P |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
| Csnka2ip |
A |
T |
16: 64,298,975 (GRCm39) |
V19D |
probably damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,917,744 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,573,608 (GRCm39) |
K785E |
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,083,465 (GRCm39) |
|
probably benign |
Het |
| Gal3st2b |
T |
C |
1: 93,868,549 (GRCm39) |
V258A |
probably benign |
Het |
| Gucy2c |
T |
C |
6: 136,705,333 (GRCm39) |
N534S |
probably damaging |
Het |
| Hook1 |
C |
T |
4: 95,887,023 (GRCm39) |
T210I |
possibly damaging |
Het |
| Ifi203 |
T |
C |
1: 173,756,215 (GRCm39) |
|
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,844,975 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,297,350 (GRCm39) |
V3204I |
probably benign |
Het |
| Nelfcd |
G |
T |
2: 174,265,223 (GRCm39) |
V248L |
probably benign |
Het |
| Oosp1 |
T |
C |
19: 11,645,776 (GRCm39) |
S121G |
probably benign |
Het |
| Or10am5 |
T |
A |
7: 6,517,808 (GRCm39) |
N207Y |
probably benign |
Het |
| Sec16b |
G |
C |
1: 157,359,718 (GRCm39) |
G164R |
probably benign |
Het |
| Slc22a14 |
T |
A |
9: 118,998,919 (GRCm39) |
D561V |
probably benign |
Het |
| Tet2 |
G |
A |
3: 133,193,870 (GRCm39) |
T188I |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,009 (GRCm39) |
V63A |
possibly damaging |
Het |
| Ube2d2a |
T |
G |
18: 35,903,438 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
T |
A |
7: 20,521,388 (GRCm39) |
V60E |
probably damaging |
Het |
|
| Other mutations in Mtx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01867:Mtx2
|
APN |
2 |
74,706,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03277:Mtx2
|
APN |
2 |
74,698,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Mtx2
|
UTSW |
2 |
74,699,634 (GRCm39) |
splice site |
probably benign |
|
|
R2240:Mtx2
|
UTSW |
2 |
74,699,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2906:Mtx2
|
UTSW |
2 |
74,697,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Mtx2
|
UTSW |
2 |
74,677,634 (GRCm39) |
splice site |
probably null |
|
|
R3732:Mtx2
|
UTSW |
2 |
74,677,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Mtx2
|
UTSW |
2 |
74,677,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3733:Mtx2
|
UTSW |
2 |
74,677,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Mtx2
|
UTSW |
2 |
74,706,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7154:Mtx2
|
UTSW |
2 |
74,706,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7854:Mtx2
|
UTSW |
2 |
74,699,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Mtx2
|
UTSW |
2 |
74,706,714 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8234:Mtx2
|
UTSW |
2 |
74,699,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Mtx2
|
UTSW |
2 |
74,699,696 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9326:Mtx2
|
UTSW |
2 |
74,656,287 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGCAAGTCCCTGCTCATGAATGAAAC -3'
(R):5'- GCAGGCATAATATGATCCCATCAGAGG -3'
Sequencing Primer
(F):5'- CTTGCACATACATTTTAGGGAAGC -3'
(R):5'- GAGAGAGATAAAGCAAGTATTTTGCT -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation