Incidental Mutation 'R3794:Ndufaf5'
ID |
272679 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ndufaf5
|
Ensembl Gene |
ENSMUSG00000027384 |
Gene Name |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
Synonyms |
2310003L22Rik |
MMRRC Submission |
040756-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.308)
|
Stock # |
R3794 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
140012569-140045609 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140044843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 279
(M279K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044825]
|
AlphaFold |
A2APY7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044825
AA Change: M279K
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035325 Gene: ENSMUSG00000027384 AA Change: M279K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:Methyltransf_29
|
45 |
196 |
7.1e-8 |
PFAM |
Pfam:Methyltransf_23
|
53 |
239 |
6.4e-16 |
PFAM |
Pfam:Ubie_methyltran
|
78 |
204 |
3e-10 |
PFAM |
Pfam:Methyltransf_18
|
89 |
187 |
1.1e-8 |
PFAM |
Pfam:Methyltransf_31
|
92 |
243 |
9.6e-13 |
PFAM |
Pfam:Methyltransf_25
|
93 |
182 |
1.3e-9 |
PFAM |
Pfam:Methyltransf_12
|
94 |
184 |
2.4e-14 |
PFAM |
Pfam:Methyltransf_11
|
94 |
186 |
6.3e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125913
|
Meta Mutation Damage Score |
0.5665 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (37/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
C |
T |
15: 98,496,824 (GRCm39) |
V482I |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,431,486 (GRCm39) |
M1L |
probably damaging |
Het |
Ceacam13 |
A |
G |
7: 17,747,340 (GRCm39) |
*264W |
probably null |
Het |
Dennd5b |
A |
T |
6: 149,002,715 (GRCm39) |
D31E |
possibly damaging |
Het |
Dip2c |
T |
C |
13: 9,654,597 (GRCm39) |
V706A |
probably damaging |
Het |
Enpp3 |
T |
C |
10: 24,707,630 (GRCm39) |
|
probably null |
Het |
Exoc4 |
T |
G |
6: 33,452,932 (GRCm39) |
V474G |
probably benign |
Het |
F2rl1 |
A |
G |
13: 95,649,719 (GRCm39) |
Y388H |
unknown |
Het |
Fasl |
T |
C |
1: 161,609,306 (GRCm39) |
R17G |
probably benign |
Het |
Htr1a |
G |
A |
13: 105,580,852 (GRCm39) |
V31M |
possibly damaging |
Het |
Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
Itih3 |
T |
C |
14: 30,640,351 (GRCm39) |
Y319C |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,735,240 (GRCm39) |
|
probably benign |
Het |
Mobp |
A |
T |
9: 119,997,033 (GRCm39) |
K55* |
probably null |
Het |
Nlrc3 |
T |
C |
16: 3,765,739 (GRCm39) |
I1057V |
probably benign |
Het |
Or10al7 |
A |
G |
17: 38,365,786 (GRCm39) |
Y224H |
probably damaging |
Het |
Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
Piezo2 |
C |
T |
18: 63,214,864 (GRCm39) |
R1257Q |
probably damaging |
Het |
Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
Pon3 |
A |
G |
6: 5,221,578 (GRCm39) |
Y351H |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Scaf8 |
A |
G |
17: 3,240,524 (GRCm39) |
E632G |
probably damaging |
Het |
Smurf1 |
A |
G |
5: 144,837,985 (GRCm39) |
|
probably null |
Het |
Tex16 |
T |
G |
X: 111,150,375 (GRCm39) |
M1R |
probably null |
Het |
Tln1 |
G |
T |
4: 43,536,295 (GRCm39) |
A1999D |
probably damaging |
Het |
Trgv5 |
A |
T |
13: 19,376,694 (GRCm39) |
H47L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,772,781 (GRCm39) |
V2405I |
possibly damaging |
Het |
Vps13d |
G |
A |
4: 144,812,007 (GRCm39) |
|
probably benign |
Het |
Xrcc1 |
A |
G |
7: 24,269,985 (GRCm39) |
T469A |
probably benign |
Het |
Zfp287 |
G |
T |
11: 62,605,070 (GRCm39) |
H612Q |
probably damaging |
Het |
Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
|
Other mutations in Ndufaf5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02192:Ndufaf5
|
APN |
2 |
140,030,663 (GRCm39) |
missense |
probably benign |
0.01 |
R0373:Ndufaf5
|
UTSW |
2 |
140,012,801 (GRCm39) |
missense |
probably benign |
0.03 |
R1654:Ndufaf5
|
UTSW |
2 |
140,019,220 (GRCm39) |
splice site |
probably null |
|
R1710:Ndufaf5
|
UTSW |
2 |
140,035,522 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1868:Ndufaf5
|
UTSW |
2 |
140,023,509 (GRCm39) |
missense |
probably benign |
0.00 |
R2226:Ndufaf5
|
UTSW |
2 |
140,030,780 (GRCm39) |
missense |
probably benign |
0.02 |
R4440:Ndufaf5
|
UTSW |
2 |
140,012,645 (GRCm39) |
missense |
probably benign |
0.00 |
R4621:Ndufaf5
|
UTSW |
2 |
140,025,845 (GRCm39) |
missense |
probably benign |
0.02 |
R4669:Ndufaf5
|
UTSW |
2 |
140,029,675 (GRCm39) |
missense |
probably benign |
0.11 |
R5683:Ndufaf5
|
UTSW |
2 |
140,044,843 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6904:Ndufaf5
|
UTSW |
2 |
140,030,700 (GRCm39) |
nonsense |
probably null |
|
R6937:Ndufaf5
|
UTSW |
2 |
140,023,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R8302:Ndufaf5
|
UTSW |
2 |
140,030,698 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8539:Ndufaf5
|
UTSW |
2 |
140,025,894 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8855:Ndufaf5
|
UTSW |
2 |
140,025,840 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9328:Ndufaf5
|
UTSW |
2 |
140,030,752 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9333:Ndufaf5
|
UTSW |
2 |
140,035,513 (GRCm39) |
missense |
probably benign |
0.29 |
R9731:Ndufaf5
|
UTSW |
2 |
140,012,807 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- GGATTCAAACAGCTTTGCTCAG -3'
(R):5'- AGCGGCTTGGAAACAGACAC -3'
Sequencing Primer
(F):5'- CAGTAAGCAGCCTAGCTCTAGTTTG -3'
(R):5'- CTTGGAAACAGACACAGATAAGATC -3'
|
Posted On |
2015-03-25 |