Incidental Mutation 'R4555:Ndufaf7'
ID |
341850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ndufaf7
|
Ensembl Gene |
ENSMUSG00000024082 |
Gene Name |
NADH:ubiquinone oxidoreductase complex assembly factor 7 |
Synonyms |
2410091C18Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4555 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
79244565-79255481 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79249516 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 138
(S138P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024887]
|
AlphaFold |
Q9CWG8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024887
AA Change: S138P
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000024887 Gene: ENSMUSG00000024082 AA Change: S138P
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_28
|
95 |
349 |
5.5e-75 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] PHENOTYPE: Embryos homozygous for a gene trap mutation die prenatally. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
Afp |
T |
G |
5: 90,654,546 (GRCm39) |
I528S |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,812,755 (GRCm39) |
D2407G |
possibly damaging |
Het |
Cyp19a1 |
T |
C |
9: 54,074,105 (GRCm39) |
E483G |
probably damaging |
Het |
Dennd2c |
G |
A |
3: 103,039,202 (GRCm39) |
V117I |
probably benign |
Het |
Inha |
C |
T |
1: 75,486,227 (GRCm39) |
P174L |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,387,763 (GRCm39) |
R746G |
probably damaging |
Het |
Osmr |
T |
C |
15: 6,845,201 (GRCm39) |
Q855R |
possibly damaging |
Het |
Pip4k2a |
C |
T |
2: 18,877,103 (GRCm39) |
D211N |
probably damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
Plxna1 |
G |
T |
6: 89,300,310 (GRCm39) |
T1591K |
probably damaging |
Het |
Rdh19 |
T |
A |
10: 127,686,020 (GRCm39) |
L44Q |
probably benign |
Het |
Rom1 |
T |
C |
19: 8,905,380 (GRCm39) |
T267A |
possibly damaging |
Het |
Smad3 |
C |
T |
9: 63,562,070 (GRCm39) |
V108I |
possibly damaging |
Het |
Sptb |
A |
C |
12: 76,659,625 (GRCm39) |
S1092A |
probably benign |
Het |
Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
Ugt1a6a |
C |
T |
1: 88,066,349 (GRCm39) |
R52* |
probably null |
Het |
Usp54 |
C |
T |
14: 20,611,090 (GRCm39) |
R1242H |
probably benign |
Het |
Vps16 |
T |
C |
2: 130,285,496 (GRCm39) |
V813A |
probably damaging |
Het |
|
Other mutations in Ndufaf7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00337:Ndufaf7
|
APN |
17 |
79,254,520 (GRCm39) |
unclassified |
probably benign |
|
IGL01571:Ndufaf7
|
APN |
17 |
79,251,281 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01613:Ndufaf7
|
APN |
17 |
79,244,931 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01763:Ndufaf7
|
APN |
17 |
79,253,771 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL03149:Ndufaf7
|
APN |
17 |
79,252,439 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0540:Ndufaf7
|
UTSW |
17 |
79,253,885 (GRCm39) |
missense |
probably benign |
0.02 |
R1728:Ndufaf7
|
UTSW |
17 |
79,245,058 (GRCm39) |
missense |
probably damaging |
0.99 |
R1729:Ndufaf7
|
UTSW |
17 |
79,245,058 (GRCm39) |
missense |
probably damaging |
0.99 |
R1784:Ndufaf7
|
UTSW |
17 |
79,245,058 (GRCm39) |
missense |
probably damaging |
0.99 |
R1907:Ndufaf7
|
UTSW |
17 |
79,249,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2119:Ndufaf7
|
UTSW |
17 |
79,252,442 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2369:Ndufaf7
|
UTSW |
17 |
79,252,461 (GRCm39) |
missense |
probably damaging |
0.99 |
R4167:Ndufaf7
|
UTSW |
17 |
79,252,415 (GRCm39) |
missense |
probably benign |
0.00 |
R4556:Ndufaf7
|
UTSW |
17 |
79,249,516 (GRCm39) |
missense |
probably benign |
0.05 |
R5236:Ndufaf7
|
UTSW |
17 |
79,247,060 (GRCm39) |
missense |
probably benign |
0.23 |
R5405:Ndufaf7
|
UTSW |
17 |
79,246,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R5514:Ndufaf7
|
UTSW |
17 |
79,245,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R6377:Ndufaf7
|
UTSW |
17 |
79,250,739 (GRCm39) |
missense |
probably null |
0.99 |
R7440:Ndufaf7
|
UTSW |
17 |
79,249,546 (GRCm39) |
missense |
probably damaging |
0.98 |
R8205:Ndufaf7
|
UTSW |
17 |
79,254,461 (GRCm39) |
missense |
probably benign |
|
R8280:Ndufaf7
|
UTSW |
17 |
79,251,275 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8931:Ndufaf7
|
UTSW |
17 |
79,244,950 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9042:Ndufaf7
|
UTSW |
17 |
79,245,968 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9463:Ndufaf7
|
UTSW |
17 |
79,253,900 (GRCm39) |
critical splice donor site |
probably null |
|
R9573:Ndufaf7
|
UTSW |
17 |
79,246,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTTTTACTTGACACAGTGTG -3'
(R):5'- AACATCCTTCAGGTCTCGGTAC -3'
Sequencing Primer
(F):5'- GGCTTAACGGTTTCCAAAGC -3'
(R):5'- TTCAGGTCTCGGTACCAGGAG -3'
|
Posted On |
2015-09-24 |