Incidental Mutation 'RF034:Cox7a2l'
| ID |
604504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cox7a2l
|
| Ensembl Gene |
ENSMUSG00000024248 |
| Gene Name |
cytochrome c oxidase subunit 7A2 like |
| Synonyms |
SIG-81, COX7RP, COX7AR, EB1, SIG81, Scaf1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
RF034 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
83809346-83821762 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
GGA to GGATGGGGA
at 83810151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025095]
[ENSMUST00000167741]
|
| AlphaFold |
Q61387 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025095
|
| SMART Domains |
Protein: ENSMUSP00000025095
Gene: ENSMUSG00000024248
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX7a
|
56 |
110 |
4.8e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167741
|
| SMART Domains |
Protein: ENSMUSP00000131584
Gene: ENSMUSG00000024248
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ocrj1
|
56 |
132 |
2e-20 |
SMART |
|
PDB:3WG7|W
|
56 |
134 |
2e-7 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
All alleles(10) : Gene trapped(10) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCGGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
GCATCCTGGGCTGCT |
GCATCCTGGGCTGCTACATCCTGGGCTGCT |
4: 155,989,549 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
GAGAAGGCAC |
G |
7: 80,742,162 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
TTATTATGATTATTAC |
3: 37,104,909 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCCAGGGATGTGACAGACACACTG |
CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG |
9: 86,922,470 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
GA |
GATGTGACAGACACACTGCCCAGGTA |
9: 86,922,500 (GRCm39) |
|
probably null |
Het |
| Defb22 |
TGCGGCA |
TGCGGCAGGGCTGGCCTTTGCGGCA |
2: 152,327,752 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
GGGCGGAGCACAGTTCCTACCTCGTT |
GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,416 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
GTG |
GTGCGTGTGCTGTTG |
5: 110,526,015 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GCTC |
GCTCTGTCTC |
X: 71,314,368 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
GGGTCTGAGGGAGGA |
GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA |
7: 44,149,947 (GRCm39) |
|
probably null |
Het |
| Gm15155 |
CAA |
CAACAACAAA |
X: 155,128,636 (GRCm39) |
|
probably null |
Het |
| Igf1r |
GGAGATGGAGC |
GGAGATGGAGCTAGAGATGGAGC |
7: 67,875,924 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACCACAGC |
CACCACAGCCACAGCGACCACAGC |
1: 83,020,003 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCGGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CCAGCTCCAGCTCCA |
CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA |
2: 121,136,785 (GRCm39) |
|
probably benign |
Het |
| Map1a |
GCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA |
2: 121,136,788 (GRCm39) |
|
probably benign |
Het |
| Neu1 |
TCTTCTA |
T |
17: 35,151,534 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAGCAGC |
CAGCAGCAGAAGCAGC |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
| Or7g32 |
G |
T |
9: 19,388,928 (GRCm39) |
A206E |
possibly damaging |
Het |
| Pdik1l |
TTTT |
TTTTGTTTTTGGTTT |
4: 134,006,685 (GRCm39) |
|
probably null |
Het |
| Rassf6 |
CACTCATGGTCCTGTAGAGCAATGGGGATTC |
CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,771 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
CTGTAGAGCAATGGGGATTC |
CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC |
5: 90,756,782 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATGGTCCTGTAGAGCAATGGGGATTC |
ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,776 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
AGAGGAGGA |
AGA |
14: 52,386,983 (GRCm39) |
|
probably benign |
Het |
| Rprd2 |
AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC |
AGAGGCTGTGGTGCTC |
3: 95,673,632 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CG |
CGAGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GCGGC |
GCGGCATCGGC |
8: 85,682,804 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
CA |
CACCAAGA |
19: 26,608,411 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGTAG |
17: 48,097,023 (GRCm39) |
|
probably null |
Het |
| Tmed6 |
AGC |
AGCTGGC |
8: 107,788,228 (GRCm39) |
|
probably null |
Het |
| Tomm5 |
TCTTCCGC |
TCTTCCGCAGCTTCCGC |
4: 45,107,976 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TG |
TGATGCTGCTGCTGCGG |
15: 72,673,147 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cox7a2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0103:Cox7a2l
|
UTSW |
17 |
83,821,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Cox7a2l
|
UTSW |
17 |
83,821,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Cox7a2l
|
UTSW |
17 |
83,811,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4028:Cox7a2l
|
UTSW |
17 |
83,810,069 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6088:Cox7a2l
|
UTSW |
17 |
83,811,401 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9615:Cox7a2l
|
UTSW |
17 |
83,821,701 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
RF026:Cox7a2l
|
UTSW |
17 |
83,810,151 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Cox7a2l
|
UTSW |
17 |
83,810,151 (GRCm39) |
small insertion |
probably benign |
|
|
RF037:Cox7a2l
|
UTSW |
17 |
83,810,151 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGATTCAAAGGGTTTGTGCC -3'
(R):5'- CCCAGTTGCCCGCTATATTGTG -3'
Sequencing Primer
(F):5'- TTTGTGCCACAAAGTGAACCAGTC -3'
(R):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation