Incidental Mutation 'R4891:Ndufa5'
| ID |
377307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndufa5
|
| Ensembl Gene |
ENSMUSG00000023089 |
| Gene Name |
NADH:ubiquinone oxidoreductase subunit A5 |
| Synonyms |
2900002J19Rik |
| MMRRC Submission |
042496-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24518661-24527689 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24519246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 26
(V26A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023851]
[ENSMUST00000052277]
[ENSMUST00000118558]
|
| AlphaFold |
Q9CPP6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023851
AA Change: V65A
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023851
Gene: ENSMUSG00000023089
AA Change: V65A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:ETC_C1_NDUFA5
|
19 |
73 |
1.4e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052277
|
| SMART Domains |
Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DAF|A
|
119 |
216 |
1e-38 |
PDB |
|
Blast:UBQ
|
129 |
199 |
3e-26 |
BLAST |
|
low complexity region
|
218 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
306 |
N/A |
INTRINSIC |
|
IQ
|
333 |
355 |
1.74e-1 |
SMART |
|
low complexity region
|
357 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
735 |
742 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118558
AA Change: V26A
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112971
Gene: ENSMUSG00000023089
AA Change: V26A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141274
|
| Meta Mutation Damage Score |
0.2217 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality at E9. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,166,072 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Cercam |
C |
A |
2: 29,759,283 (GRCm39) |
|
probably benign |
Het |
| Chst1 |
A |
G |
2: 92,444,337 (GRCm39) |
T270A |
possibly damaging |
Het |
| Cluh |
C |
T |
11: 74,555,885 (GRCm39) |
T816I |
possibly damaging |
Het |
| Edn3 |
A |
G |
2: 174,603,525 (GRCm39) |
H91R |
probably benign |
Het |
| Fam135a |
A |
G |
1: 24,069,409 (GRCm39) |
S487P |
probably benign |
Het |
| Galns |
T |
A |
8: 123,325,895 (GRCm39) |
D212V |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,475,570 (GRCm39) |
V582A |
possibly damaging |
Het |
| Hs3st4 |
T |
A |
7: 123,996,052 (GRCm39) |
N239K |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,276,186 (GRCm39) |
W1062* |
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,377,621 (GRCm39) |
N4110S |
probably damaging |
Het |
| Mag |
T |
C |
7: 30,599,793 (GRCm39) |
H582R |
possibly damaging |
Het |
| Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Or13j1 |
C |
T |
4: 43,706,194 (GRCm39) |
A125T |
probably damaging |
Het |
| Or51g2 |
T |
A |
7: 102,622,759 (GRCm39) |
I147L |
probably benign |
Het |
| Or5ac24 |
T |
A |
16: 59,165,834 (GRCm39) |
T77S |
possibly damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,716,957 (GRCm39) |
H347R |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 117,196,985 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
C |
T |
1: 184,991,563 (GRCm39) |
A683V |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,249,496 (GRCm39) |
V240A |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,685 (GRCm39) |
V325E |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
C |
T |
19: 4,788,497 (GRCm39) |
R1159C |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,415 (GRCm39) |
D14G |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,208,601 (GRCm39) |
K173R |
probably damaging |
Het |
| Themis2 |
G |
T |
4: 132,510,668 (GRCm39) |
Q625K |
probably benign |
Het |
| Vcpip1 |
G |
T |
1: 9,818,287 (GRCm39) |
P32Q |
unknown |
Het |
| Vmn1r229 |
A |
T |
17: 21,035,081 (GRCm39) |
T109S |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,640,661 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
G |
1: 175,526,345 (GRCm39) |
|
probably benign |
Het |
| Wiz |
A |
G |
17: 32,576,602 (GRCm39) |
S642P |
possibly damaging |
Het |
| Zdhhc1 |
C |
T |
8: 106,199,649 (GRCm39) |
R383Q |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,060,055 (GRCm39) |
S1194P |
probably damaging |
Het |
|
| Other mutations in Ndufa5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02439:Ndufa5
|
APN |
6 |
24,519,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:Ndufa5
|
UTSW |
6 |
24,527,291 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
BB014:Ndufa5
|
UTSW |
6 |
24,527,291 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0441:Ndufa5
|
UTSW |
6 |
24,522,750 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0609:Ndufa5
|
UTSW |
6 |
24,519,248 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7014:Ndufa5
|
UTSW |
6 |
24,519,190 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7661:Ndufa5
|
UTSW |
6 |
24,518,724 (GRCm39) |
makesense |
probably null |
|
|
R7927:Ndufa5
|
UTSW |
6 |
24,527,291 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8139:Ndufa5
|
UTSW |
6 |
24,522,757 (GRCm39) |
nonsense |
probably null |
|
|
R9349:Ndufa5
|
UTSW |
6 |
24,522,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAAGCTTGTCCTCATCCACATC -3'
(R):5'- AAGTTGTGCATCATTTGTCTTACC -3'
Sequencing Primer
(F):5'- CTGTGGCTTTCAAATTTCACCCAAG -3'
(R):5'- GCATCATTTGTCTTACCTTTGTTAAG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation