Incidental Mutation 'R6141:Ndufs2'
| ID |
488558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndufs2
|
| Ensembl Gene |
ENSMUSG00000013593 |
| Gene Name |
NADH:ubiquinone oxidoreductase core subunit S2 |
| Synonyms |
|
| MMRRC Submission |
044288-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6141 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171062422-171078956 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 171064185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 375
(E375G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013737]
[ENSMUST00000079957]
[ENSMUST00000111318]
[ENSMUST00000193973]
[ENSMUST00000194778]
[ENSMUST00000191871]
|
| AlphaFold |
Q91WD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013737
AA Change: E401G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000013737
Gene: ENSMUSG00000013593
AA Change: E401G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_49kDa
|
193 |
463 |
1.1e-131 |
PFAM |
|
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000111318
AA Change: E375G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106950
Gene: ENSMUSG00000013593
AA Change: E375G
| 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 benign
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 |
|
| Meta Mutation Damage Score |
0.9739 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
A |
T |
7: 42,097,483 (GRCm39) |
C4S |
probably damaging |
Het |
| Abhd5 |
A |
T |
9: 122,206,998 (GRCm39) |
T95S |
probably benign |
Het |
| Ambra1 |
A |
T |
2: 91,706,099 (GRCm39) |
N795Y |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,464,102 (GRCm39) |
N1289D |
possibly damaging |
Het |
| Cavin2 |
T |
C |
1: 51,340,097 (GRCm39) |
L258P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,807 (GRCm39) |
T233A |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,526,932 (GRCm39) |
I279N |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 10,144,162 (GRCm39) |
L169Q |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,458,545 (GRCm39) |
S157G |
possibly damaging |
Het |
| Defb22 |
A |
T |
2: 152,327,722 (GRCm39) |
N154K |
unknown |
Het |
| Eepd1 |
T |
A |
9: 25,394,280 (GRCm39) |
D181E |
probably benign |
Het |
| Etfa |
T |
C |
9: 55,372,103 (GRCm39) |
H286R |
probably damaging |
Het |
| Gm44419 |
T |
A |
6: 65,127,940 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch4 |
C |
T |
3: 87,962,047 (GRCm39) |
R155* |
probably null |
Het |
| Grik1 |
T |
G |
16: 87,693,760 (GRCm39) |
R862S |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,792,875 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
C |
6: 115,892,972 (GRCm39) |
W919R |
probably damaging |
Het |
| Iqgap2 |
A |
T |
13: 95,858,194 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
A |
T |
4: 120,573,066 (GRCm39) |
I245N |
probably damaging |
Het |
| Map3k3 |
G |
T |
11: 105,987,874 (GRCm39) |
R21L |
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,215,604 (GRCm39) |
V1063A |
probably damaging |
Het |
| Msr1 |
A |
T |
8: 40,084,360 (GRCm39) |
V65E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,113,903 (GRCm39) |
D17V |
probably damaging |
Het |
| Naaladl1 |
T |
A |
19: 6,159,785 (GRCm39) |
|
probably null |
Het |
| Naip6 |
T |
C |
13: 100,444,741 (GRCm39) |
Y239C |
possibly damaging |
Het |
| Nckap1 |
C |
A |
2: 80,360,551 (GRCm39) |
D533Y |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,439,097 (GRCm39) |
V1605A |
probably damaging |
Het |
| Or4k42 |
A |
G |
2: 111,320,464 (GRCm39) |
I13T |
probably benign |
Het |
| Or52ae9 |
C |
A |
7: 103,389,994 (GRCm39) |
R151L |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,916 (GRCm39) |
H20L |
probably benign |
Het |
| Or5b114-ps1 |
A |
T |
19: 13,352,647 (GRCm39) |
Y107F |
probably benign |
Het |
| Or7e176 |
T |
A |
9: 20,171,754 (GRCm39) |
M206K |
probably benign |
Het |
| Pcp2 |
G |
A |
8: 3,673,543 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
A |
G |
5: 75,334,057 (GRCm39) |
S377G |
probably damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,511 (GRCm39) |
Y53* |
probably null |
Het |
| Ric1 |
T |
C |
19: 29,572,842 (GRCm39) |
S761P |
probably damaging |
Het |
| Satb1 |
T |
C |
17: 52,082,404 (GRCm39) |
T417A |
possibly damaging |
Het |
| Slc1a7 |
T |
A |
4: 107,859,379 (GRCm39) |
M156K |
possibly damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,041,789 (GRCm39) |
E123G |
probably damaging |
Het |
| Slc66a1 |
A |
G |
4: 139,027,556 (GRCm39) |
V262A |
probably benign |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Stard13 |
A |
T |
5: 150,965,707 (GRCm39) |
V916E |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,556 (GRCm39) |
R674G |
possibly damaging |
Het |
| Tnfsf11 |
A |
G |
14: 78,545,299 (GRCm39) |
Y11H |
probably damaging |
Het |
| Tnr |
T |
A |
1: 159,714,692 (GRCm39) |
V857E |
probably benign |
Het |
| Tubgcp5 |
A |
G |
7: 55,456,526 (GRCm39) |
I373V |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,090,160 (GRCm39) |
R414S |
possibly damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,742,576 (GRCm39) |
S317P |
probably benign |
Het |
| Wdr49 |
A |
T |
3: 75,230,989 (GRCm39) |
F558I |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,648,105 (GRCm39) |
I983T |
probably benign |
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 |
|
|
R0905:Ndufs2
|
UTSW |
1 |
171,063,922 (GRCm39) |
splice site |
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 |
|
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'- GGAAGAAAGTTGGATGCCCC -3'
(R):5'- CAAGGCTAGAGCTTGGATCTGG -3'
Sequencing Primer
(F):5'- TGCCCCATTAGTAGGAAAGGCTC -3'
(R):5'- CTGGAACTTACTCTGTAGACCAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation