Incidental Mutation 'IGL00594:Ndufaf6'
| ID |
12316 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndufaf6
|
| Ensembl Gene |
ENSMUSG00000050323 |
| Gene Name |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
| Synonyms |
2310030N02Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.357)
|
| Stock # |
IGL00594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
11051045-11076205 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11062127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 168
(Y168C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058183]
|
| AlphaFold |
A2AIL4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058183
AA Change: Y168C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062039
Gene: ENSMUSG00000050323
AA Change: Y168C
| 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: ENSMUST00000124607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144475
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154122
|
| 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 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,109 (GRCm39) |
T154A |
probably benign |
Het |
| Acox1 |
A |
G |
11: 116,065,331 (GRCm39) |
|
probably benign |
Het |
| Adgrg2 |
G |
A |
X: 159,268,773 (GRCm39) |
V677I |
probably benign |
Het |
| Aifm1 |
T |
C |
X: 47,570,976 (GRCm39) |
T386A |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,415,160 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,453 (GRCm39) |
V175A |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,970,775 (GRCm39) |
Y987H |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,841 (GRCm39) |
M911L |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,290,811 (GRCm39) |
V354A |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,798,041 (GRCm39) |
N126D |
probably benign |
Het |
| Igkv3-7 |
T |
C |
6: 70,584,807 (GRCm39) |
V49A |
possibly damaging |
Het |
| Kbtbd8 |
A |
T |
6: 95,103,494 (GRCm39) |
Y381F |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,743,318 (GRCm39) |
T215M |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,316,624 (GRCm39) |
V2119E |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,892,647 (GRCm39) |
V322A |
probably benign |
Het |
| Mageb5b |
C |
T |
X: 90,679,091 (GRCm39) |
Q348* |
probably null |
Het |
| Ms4a14 |
A |
G |
19: 11,278,983 (GRCm39) |
S1192P |
possibly damaging |
Het |
| Plcg2 |
C |
T |
8: 118,282,810 (GRCm39) |
T97I |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,966 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,777 (GRCm39) |
H515R |
probably benign |
Het |
| Rpn1 |
G |
T |
6: 88,072,611 (GRCm39) |
R318L |
probably damaging |
Het |
| Shroom2 |
A |
T |
X: 151,396,512 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,880 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
A |
G |
19: 38,884,487 (GRCm39) |
E346G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,294 (GRCm39) |
F361S |
possibly damaging |
Het |
| Tenm1 |
G |
T |
X: 41,803,913 (GRCm39) |
P837T |
probably benign |
Het |
| Tmem144 |
A |
G |
3: 79,746,474 (GRCm39) |
V27A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,973,789 (GRCm39) |
N19K |
possibly damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,724,659 (GRCm39) |
Y543H |
possibly damaging |
Het |
|
| Other mutations in Ndufaf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0855:Ndufaf6
|
UTSW |
4 |
11,051,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation