Incidental Mutation 'R4167:Ndufaf7'
| ID |
320638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndufaf7
|
| Ensembl Gene |
ENSMUSG00000024082 |
| Gene Name |
NADH:ubiquinone oxidoreductase complex assembly factor 7 |
| Synonyms |
2410091C18Rik |
| MMRRC Submission |
041008-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
79244565-79255481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79252415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 275
(V275I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003191]
[ENSMUST00000024887]
[ENSMUST00000168887]
|
| AlphaFold |
Q9CWG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003191
|
| SMART Domains |
Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
155 |
204 |
1.95e-13 |
SMART |
|
C1
|
272 |
321 |
1.26e-16 |
SMART |
|
PH
|
417 |
534 |
1.18e-10 |
SMART |
|
S_TKc
|
575 |
831 |
4.5e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024887
AA Change: V275I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082
AA Change: V275I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_28
|
95 |
349 |
5.5e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168887
|
| SMART Domains |
Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
155 |
204 |
1.95e-13 |
SMART |
|
C1
|
272 |
321 |
1.26e-16 |
SMART |
|
PH
|
417 |
534 |
1.18e-10 |
SMART |
|
S_TKc
|
575 |
831 |
4.5e-90 |
SMART |
|
| Meta Mutation Damage Score |
0.1959 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
94% (31/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
| Dcp2 |
T |
A |
18: 44,529,034 (GRCm39) |
Y50N |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fam78b |
T |
C |
1: 166,829,301 (GRCm39) |
V51A |
possibly damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
G |
T |
9: 106,034,961 (GRCm39) |
A35E |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,030 (GRCm39) |
E254G |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
| Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp12 |
T |
C |
15: 39,748,409 (GRCm39) |
T70A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mindy4 |
G |
A |
6: 55,201,331 (GRCm39) |
G339S |
possibly damaging |
Het |
| Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
| Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,922,782 (GRCm39) |
Q349L |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5v1b |
T |
C |
17: 37,840,897 (GRCm39) |
S10P |
possibly damaging |
Het |
| Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
| Plcd3 |
A |
T |
11: 102,969,290 (GRCm39) |
C226S |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
| Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
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 |
|
R4555:Ndufaf7
|
UTSW |
17 |
79,249,516 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- TGGCCAGACCATATTCAAGCTG -3'
(R):5'- CCAGGCTCTGTGCTAAGAATGAC -3'
Sequencing Primer
(F):5'- GGCCAGACCATATTCAAGCTGAATTC -3'
(R):5'- GCTCTGTGCTAAGAATGACTGTAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation