Incidental Mutation 'IGL01763:Ndufaf7'
ID |
153613 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01763
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
79244565-79255481 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79253771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 323
(T323I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003191]
[ENSMUST00000024887]
[ENSMUST00000119284]
[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 |
possibly damaging
Transcript: ENSMUST00000024887
AA Change: T323I
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000024887 Gene: ENSMUSG00000024082 AA Change: T323I
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_28
|
95 |
349 |
5.5e-75 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119284
|
SMART Domains |
Protein: ENSMUSP00000113395 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
|
576 |
832 |
4.5e-90 |
SMART |
|
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 |
|
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 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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer3 |
C |
T |
7: 97,915,339 (GRCm39) |
|
probably benign |
Het |
Atp4a |
A |
G |
7: 30,414,943 (GRCm39) |
E244G |
probably benign |
Het |
Cdh20 |
T |
C |
1: 109,993,520 (GRCm39) |
I325T |
probably benign |
Het |
Dennd2c |
T |
C |
3: 103,064,224 (GRCm39) |
L623P |
probably damaging |
Het |
Eef1akmt3 |
T |
C |
10: 126,876,952 (GRCm39) |
D65G |
probably benign |
Het |
Gimap3 |
T |
A |
6: 48,742,430 (GRCm39) |
S167C |
probably damaging |
Het |
Gm12185 |
A |
T |
11: 48,806,671 (GRCm39) |
F173L |
probably benign |
Het |
Gm5611 |
A |
G |
9: 16,941,699 (GRCm39) |
|
noncoding transcript |
Het |
Gpr161 |
T |
C |
1: 165,144,820 (GRCm39) |
S387P |
probably benign |
Het |
Hsd17b8 |
A |
G |
17: 34,245,835 (GRCm39) |
V219A |
probably damaging |
Het |
Mtfr2 |
G |
A |
10: 20,228,683 (GRCm39) |
|
probably benign |
Het |
Myh8 |
A |
G |
11: 67,177,245 (GRCm39) |
K437R |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,412,564 (GRCm39) |
D3335G |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,421,691 (GRCm39) |
N269S |
probably benign |
Het |
Pcdh15 |
T |
C |
10: 74,046,293 (GRCm39) |
V190A |
probably benign |
Het |
Pdzd2 |
A |
G |
15: 12,372,632 (GRCm39) |
V2501A |
probably benign |
Het |
Piwil4 |
A |
T |
9: 14,617,562 (GRCm39) |
|
probably null |
Het |
Plxnb2 |
C |
T |
15: 89,046,184 (GRCm39) |
|
probably null |
Het |
Sgcd |
A |
G |
11: 47,085,856 (GRCm39) |
|
probably null |
Het |
Sin3b |
A |
G |
8: 73,473,236 (GRCm39) |
K519E |
probably damaging |
Het |
Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
Spty2d1 |
T |
C |
7: 46,649,596 (GRCm39) |
D33G |
probably damaging |
Het |
Txnrd3 |
C |
T |
6: 89,638,537 (GRCm39) |
T242I |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,709,945 (GRCm39) |
D1964G |
possibly damaging |
Het |
Wdr24 |
A |
G |
17: 26,045,164 (GRCm39) |
T300A |
probably benign |
Het |
Zc2hc1c |
C |
A |
12: 85,336,450 (GRCm39) |
Q36K |
probably benign |
Het |
Zfp719 |
A |
T |
7: 43,233,613 (GRCm39) |
I11F |
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 |
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 |
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 |
|
Posted On |
2014-02-04 |