Incidental Mutation 'IGL00337:Ndufaf7'
| ID |
29224 |
| 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 # |
IGL00337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
79244565-79255481 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 79254520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003191]
[ENSMUST00000024887]
[ENSMUST00000118768]
[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 |
probably benign
Transcript: ENSMUST00000024887
|
| SMART Domains |
Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_28
|
95 |
349 |
5.5e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118768
|
| SMART Domains |
Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
60 |
109 |
1.95e-13 |
SMART |
|
C1
|
177 |
226 |
1.26e-16 |
SMART |
|
PH
|
322 |
439 |
1.18e-10 |
SMART |
|
S_TKc
|
481 |
737 |
4.5e-90 |
SMART |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1ar |
A |
T |
3: 127,614,401 (GRCm39) |
|
probably benign |
Het |
| Ap1ar |
A |
C |
3: 127,614,400 (GRCm39) |
|
probably benign |
Het |
| Apip |
A |
T |
2: 102,922,257 (GRCm39) |
T208S |
probably benign |
Het |
| Arhgap11a |
A |
G |
2: 113,672,287 (GRCm39) |
V227A |
probably damaging |
Het |
| Atrn |
G |
T |
2: 130,799,999 (GRCm39) |
V459F |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,237,368 (GRCm39) |
|
probably null |
Het |
| Cfhr1 |
A |
G |
1: 139,484,253 (GRCm39) |
|
probably benign |
Het |
| D5Ertd615e |
A |
G |
5: 45,320,769 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx29 |
A |
G |
13: 113,101,137 (GRCm39) |
I1227V |
probably benign |
Het |
| Fam98a |
T |
C |
17: 75,858,742 (GRCm39) |
D16G |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,239 (GRCm39) |
D80G |
probably damaging |
Het |
| Gabbr2 |
A |
T |
4: 46,787,600 (GRCm39) |
H354Q |
probably damaging |
Het |
| Ggps1 |
G |
A |
13: 14,228,973 (GRCm39) |
S70L |
probably damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Hpx |
T |
C |
7: 105,240,977 (GRCm39) |
Y432C |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,449,371 (GRCm39) |
C376R |
probably damaging |
Het |
| Il10rb |
G |
A |
16: 91,203,227 (GRCm39) |
A8T |
probably benign |
Het |
| Ing5 |
G |
T |
1: 93,733,816 (GRCm39) |
M1I |
probably null |
Het |
| Kcnc4 |
C |
T |
3: 107,355,189 (GRCm39) |
D420N |
probably benign |
Het |
| Kcnj8 |
T |
C |
6: 142,515,961 (GRCm39) |
N49D |
probably damaging |
Het |
| Kif26b |
C |
A |
1: 178,743,213 (GRCm39) |
A656D |
probably damaging |
Het |
| Klc4 |
T |
C |
17: 46,946,361 (GRCm39) |
E488G |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,502,750 (GRCm39) |
H878Y |
probably benign |
Het |
| Nlrp14 |
T |
G |
7: 106,781,308 (GRCm39) |
D168E |
possibly damaging |
Het |
| Ogdhl |
T |
C |
14: 32,055,669 (GRCm39) |
F251S |
probably damaging |
Het |
| Or1p1 |
T |
C |
11: 74,180,213 (GRCm39) |
V247A |
probably damaging |
Het |
| P2rx5 |
A |
T |
11: 73,058,318 (GRCm39) |
|
probably null |
Het |
| Parp14 |
G |
A |
16: 35,661,445 (GRCm39) |
T1501I |
probably benign |
Het |
| Prl3c1 |
C |
A |
13: 27,384,746 (GRCm39) |
T85K |
probably damaging |
Het |
| Psg27 |
A |
G |
7: 18,295,729 (GRCm39) |
Y239H |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,493,872 (GRCm39) |
R300G |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,499 (GRCm39) |
S839P |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,317,329 (GRCm39) |
D56V |
probably damaging |
Het |
| Srrt |
C |
T |
5: 137,294,240 (GRCm39) |
|
probably benign |
Het |
| Sstr3 |
T |
A |
15: 78,424,667 (GRCm39) |
T27S |
probably benign |
Het |
| Taf1d |
C |
A |
9: 15,222,899 (GRCm39) |
S255Y |
probably damaging |
Het |
| Tbc1d15 |
C |
A |
10: 115,045,546 (GRCm39) |
E473* |
probably null |
Het |
| Tmem247 |
T |
C |
17: 87,224,963 (GRCm39) |
V24A |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,296,519 (GRCm39) |
C494R |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,784,894 (GRCm39) |
D5G |
probably damaging |
Het |
|
| Other mutations in Ndufaf7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation