Incidental Mutation 'R0855:Ndufaf6'
ID |
82682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ndufaf6
|
Ensembl Gene |
ENSMUSG00000050323 |
Gene Name |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
Synonyms |
2310030N02Rik |
MMRRC Submission |
039034-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.385)
|
Stock # |
R0855 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
11051045-11076205 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 11051169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 310
(H310Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062039
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058183]
|
AlphaFold |
A2AIL4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058183
AA Change: H310Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000062039 Gene: ENSMUSG00000050323 AA Change: H310Q
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
50 |
N/A |
INTRINSIC |
Pfam:SQS_PSY
|
65 |
323 |
3.7e-65 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144475
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
97% (35/36) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700046A07Rik |
A |
G |
18: 62,886,414 (GRCm39) |
|
noncoding transcript |
Het |
Ak3 |
T |
C |
19: 29,000,345 (GRCm39) |
K189E |
probably benign |
Het |
Anks3 |
A |
T |
16: 4,773,811 (GRCm39) |
|
probably benign |
Het |
Ash1l |
C |
A |
3: 88,961,761 (GRCm39) |
H2378N |
possibly damaging |
Het |
Baz1a |
A |
G |
12: 54,947,348 (GRCm39) |
|
probably benign |
Het |
Bicra |
A |
G |
7: 15,705,929 (GRCm39) |
F1504S |
probably damaging |
Het |
Blzf1 |
T |
C |
1: 164,119,950 (GRCm39) |
T353A |
possibly damaging |
Het |
Btn1a1 |
C |
A |
13: 23,648,489 (GRCm39) |
V115F |
probably damaging |
Het |
Cd38 |
T |
A |
5: 44,060,927 (GRCm39) |
|
probably null |
Het |
Cep250 |
T |
C |
2: 155,806,031 (GRCm39) |
C109R |
probably damaging |
Het |
Cnksr1 |
C |
T |
4: 133,960,377 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,273,724 (GRCm39) |
N3048I |
probably benign |
Het |
Impdh1 |
T |
A |
6: 29,206,971 (GRCm39) |
H116L |
probably damaging |
Het |
Kank4 |
C |
A |
4: 98,659,681 (GRCm39) |
W799L |
probably damaging |
Het |
Kcnk7 |
C |
T |
19: 5,756,103 (GRCm39) |
H110Y |
probably benign |
Het |
Mak |
T |
C |
13: 41,223,640 (GRCm39) |
E25G |
probably damaging |
Het |
Mrpl54 |
G |
A |
10: 81,102,759 (GRCm39) |
|
probably benign |
Het |
Myh10 |
A |
C |
11: 68,702,627 (GRCm39) |
D1767A |
possibly damaging |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Osbpl6 |
G |
T |
2: 76,415,477 (GRCm39) |
G467V |
probably damaging |
Het |
Osbpl6 |
A |
G |
2: 76,422,183 (GRCm39) |
E673G |
probably damaging |
Het |
Picalm |
T |
A |
7: 89,840,356 (GRCm39) |
D458E |
possibly damaging |
Het |
Ppp2ca |
G |
A |
11: 52,012,752 (GRCm39) |
R294H |
probably benign |
Het |
Prdm14 |
T |
A |
1: 13,195,761 (GRCm39) |
N100I |
probably benign |
Het |
Rbbp6 |
A |
G |
7: 122,591,471 (GRCm39) |
T510A |
probably benign |
Het |
Sars1 |
C |
A |
3: 108,334,248 (GRCm39) |
E503D |
probably benign |
Het |
Smtn |
T |
C |
11: 3,471,880 (GRCm39) |
D853G |
probably damaging |
Het |
Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
Thada |
T |
C |
17: 84,744,083 (GRCm39) |
T742A |
probably damaging |
Het |
Tmem63a |
T |
C |
1: 180,788,625 (GRCm39) |
S321P |
possibly damaging |
Het |
Trim24 |
T |
A |
6: 37,892,137 (GRCm39) |
C223* |
probably null |
Het |
Usp48 |
T |
C |
4: 137,335,465 (GRCm39) |
F213L |
probably damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,761,670 (GRCm39) |
Y562* |
probably null |
Het |
|
Other mutations in Ndufaf6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00594:Ndufaf6
|
APN |
4 |
11,062,127 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01325:Ndufaf6
|
APN |
4 |
11,070,251 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02524:Ndufaf6
|
APN |
4 |
11,059,091 (GRCm39) |
missense |
probably benign |
0.10 |
PIT4366001:Ndufaf6
|
UTSW |
4 |
11,073,215 (GRCm39) |
missense |
probably benign |
0.00 |
R0605:Ndufaf6
|
UTSW |
4 |
11,051,224 (GRCm39) |
missense |
probably damaging |
0.99 |
R1674:Ndufaf6
|
UTSW |
4 |
11,070,264 (GRCm39) |
missense |
probably benign |
0.04 |
R1857:Ndufaf6
|
UTSW |
4 |
11,053,474 (GRCm39) |
missense |
probably benign |
0.00 |
R1858:Ndufaf6
|
UTSW |
4 |
11,053,474 (GRCm39) |
missense |
probably benign |
0.00 |
R1859:Ndufaf6
|
UTSW |
4 |
11,053,474 (GRCm39) |
missense |
probably benign |
0.00 |
R2174:Ndufaf6
|
UTSW |
4 |
11,070,228 (GRCm39) |
missense |
probably benign |
0.00 |
R4651:Ndufaf6
|
UTSW |
4 |
11,062,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R4870:Ndufaf6
|
UTSW |
4 |
11,060,917 (GRCm39) |
missense |
probably benign |
0.01 |
R5131:Ndufaf6
|
UTSW |
4 |
11,060,931 (GRCm39) |
missense |
probably damaging |
0.99 |
R5929:Ndufaf6
|
UTSW |
4 |
11,051,150 (GRCm39) |
missense |
probably benign |
0.00 |
R8253:Ndufaf6
|
UTSW |
4 |
11,059,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R9170:Ndufaf6
|
UTSW |
4 |
11,070,301 (GRCm39) |
missense |
probably benign |
0.33 |
R9224:Ndufaf6
|
UTSW |
4 |
11,062,089 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTACCTTAACCCGAGCAACAGTG -3'
(R):5'- TCAACAGAGGCCCGGTGTTCATAG -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- gcagttctcctgtttcaatttcc -3'
|
Posted On |
2013-11-08 |