Incidental Mutation 'R0905:Ndufs2'
| ID |
83271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndufs2
|
| Ensembl Gene |
ENSMUSG00000013593 |
| Gene Name |
NADH:ubiquinone oxidoreductase core subunit S2 |
| Synonyms |
|
| MMRRC Submission |
039063-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0905 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171062422-171078956 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 171063922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013737]
[ENSMUST00000079957]
[ENSMUST00000111318]
[ENSMUST00000193973]
[ENSMUST00000194778]
[ENSMUST00000191871]
|
| AlphaFold |
Q91WD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013737
|
| SMART Domains |
Protein: ENSMUSP00000013737
Gene: ENSMUSG00000013593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_49kDa
|
193 |
463 |
1.1e-131 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079957
|
| SMART Domains |
Protein: ENSMUSP00000078875
Gene: ENSMUSG00000058715
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:TCR_zetazeta
|
21 |
51 |
3.7e-19 |
PFAM |
|
ITAM
|
62 |
82 |
9.62e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111318
|
| SMART Domains |
Protein: ENSMUSP00000106950
Gene: ENSMUSG00000013593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_49kDa
|
193 |
236 |
2e-21 |
PFAM |
|
Pfam:Complex1_49kDa
|
232 |
437 |
1.7e-105 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131286
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150108
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150997
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193973
|
| SMART Domains |
Protein: ENSMUSP00000141240
Gene: ENSMUSG00000058715
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:TCR_zetazeta
|
21 |
53 |
4.7e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194778
|
| SMART Domains |
Protein: ENSMUSP00000141370
Gene: ENSMUSG00000013593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_49kDa
|
166 |
231 |
3.4e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191871
|
| SMART Domains |
Protein: ENSMUSP00000141942
Gene: ENSMUSG00000013593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_49kDa
|
114 |
146 |
5.3e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.6%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
G |
A |
2: 20,854,745 (GRCm39) |
T1539M |
possibly damaging |
Het |
| Birc2 |
A |
T |
9: 7,851,052 (GRCm39) |
*138R |
probably null |
Het |
| Bsn |
C |
A |
9: 107,982,834 (GRCm39) |
D3640Y |
unknown |
Het |
| Bsph1 |
A |
T |
7: 13,184,839 (GRCm39) |
M1L |
probably benign |
Het |
| Cdkl1 |
A |
T |
12: 69,803,338 (GRCm39) |
Y179* |
probably null |
Het |
| Cfap74 |
G |
A |
4: 155,503,153 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
A |
T |
8: 70,843,905 (GRCm39) |
S454T |
probably damaging |
Het |
| Cspg5 |
A |
T |
9: 110,075,594 (GRCm39) |
D110V |
probably damaging |
Het |
| Cyp2w1 |
A |
T |
5: 139,342,194 (GRCm39) |
Y380F |
probably benign |
Het |
| Dbn1 |
T |
C |
13: 55,622,040 (GRCm39) |
|
probably benign |
Het |
| Epb41l4b |
T |
C |
4: 57,103,528 (GRCm39) |
K103E |
probably damaging |
Het |
| Eps8 |
C |
T |
6: 137,491,305 (GRCm39) |
V358I |
probably benign |
Het |
| Gm12253 |
G |
T |
11: 58,330,846 (GRCm39) |
|
probably benign |
Het |
| Hltf |
T |
A |
3: 20,163,033 (GRCm39) |
|
probably null |
Het |
| Hsd17b11 |
C |
T |
5: 104,157,744 (GRCm39) |
V123I |
probably benign |
Het |
| Il31ra |
T |
A |
13: 112,668,207 (GRCm39) |
E481V |
probably damaging |
Het |
| Impdh2 |
A |
G |
9: 108,438,296 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
| Kndc1 |
A |
C |
7: 139,503,651 (GRCm39) |
K985T |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,242,824 (GRCm39) |
Y302F |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,174,197 (GRCm39) |
S1541P |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,907,292 (GRCm39) |
M528T |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Nwd1 |
G |
A |
8: 73,436,077 (GRCm39) |
V1436M |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,900,230 (GRCm39) |
R109* |
probably null |
Het |
| Pml |
A |
G |
9: 58,156,822 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
T |
C |
10: 106,655,372 (GRCm39) |
I313T |
probably benign |
Het |
| Prdm14 |
C |
T |
1: 13,195,662 (GRCm39) |
G133D |
probably benign |
Het |
| Ptgr3 |
A |
G |
18: 84,113,332 (GRCm39) |
H336R |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,257,791 (GRCm39) |
|
probably benign |
Het |
| Rassf10 |
C |
T |
7: 112,554,575 (GRCm39) |
T392M |
probably damaging |
Het |
| Rpe65 |
T |
C |
3: 159,307,220 (GRCm39) |
S54P |
possibly damaging |
Het |
| Sema5b |
T |
C |
16: 35,443,001 (GRCm39) |
V2A |
probably benign |
Het |
| Sgsm3 |
T |
C |
15: 80,895,546 (GRCm39) |
I699T |
probably damaging |
Het |
| Spn |
T |
C |
7: 126,735,503 (GRCm39) |
T335A |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,250,290 (GRCm39) |
D1834G |
probably damaging |
Het |
| Trp53bp1 |
C |
A |
2: 121,034,799 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
A |
T |
16: 94,257,648 (GRCm39) |
K1652* |
probably null |
Het |
|
| Other mutations in Ndufs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01959:Ndufs2
|
APN |
1 |
171,064,798 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02367:Ndufs2
|
APN |
1 |
171,066,934 (GRCm39) |
nonsense |
probably null |
|
|
R1618:Ndufs2
|
UTSW |
1 |
171,073,690 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3788:Ndufs2
|
UTSW |
1 |
171,062,889 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4866:Ndufs2
|
UTSW |
1 |
171,074,618 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4959:Ndufs2
|
UTSW |
1 |
171,065,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Ndufs2
|
UTSW |
1 |
171,066,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5992:Ndufs2
|
UTSW |
1 |
171,063,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6141:Ndufs2
|
UTSW |
1 |
171,064,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Ndufs2
|
UTSW |
1 |
171,068,668 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6480:Ndufs2
|
UTSW |
1 |
171,064,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7034:Ndufs2
|
UTSW |
1 |
171,065,877 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7036:Ndufs2
|
UTSW |
1 |
171,065,877 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7854:Ndufs2
|
UTSW |
1 |
171,066,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8023:Ndufs2
|
UTSW |
1 |
171,064,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8090:Ndufs2
|
UTSW |
1 |
171,064,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:Ndufs2
|
UTSW |
1 |
171,068,677 (GRCm39) |
missense |
probably benign |
|
|
R9725:Ndufs2
|
UTSW |
1 |
171,074,629 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9767:Ndufs2
|
UTSW |
1 |
171,068,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCAGGagttgggtgtgga -3'
(R):5'- ACTGCTCACAGAGGTGTAAAGGGAA -3'
Sequencing Primer
(F):5'- tgggagacagaggcagg -3'
(R):5'- AGCCAGACAGGGTTTGATAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation