Incidental Mutation 'R6598:Ndufs1'
| ID |
525009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndufs1
|
| Ensembl Gene |
ENSMUSG00000025968 |
| Gene Name |
NADH:ubiquinone oxidoreductase core subunit S1 |
| Synonyms |
9930026A05Rik, 5830412M15Rik |
| MMRRC Submission |
044722-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6598 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
63182751-63215981 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63204109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 140
(Q140R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027111]
[ENSMUST00000027111]
[ENSMUST00000168099]
[ENSMUST00000168099]
[ENSMUST00000185412]
[ENSMUST00000185732]
[ENSMUST00000185847]
[ENSMUST00000188370]
|
| AlphaFold |
Q91VD9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027111
AA Change: Q140R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968
AA Change: Q140R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
107 |
8.5e-20 |
PFAM |
|
Pfam:Fer2
|
34 |
97 |
1e-11 |
PFAM |
|
NADH-G_4Fe-4S_3
|
113 |
153 |
6.5e-19 |
SMART |
|
Pfam:Molybdopterin
|
301 |
629 |
1e-76 |
PFAM |
|
Pfam:NADH_dhqG_C
|
658 |
710 |
1.5e-19 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000027111
AA Change: Q140R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968
AA Change: Q140R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
107 |
8.5e-20 |
PFAM |
|
Pfam:Fer2
|
34 |
97 |
1e-11 |
PFAM |
|
NADH-G_4Fe-4S_3
|
113 |
153 |
6.5e-19 |
SMART |
|
Pfam:Molybdopterin
|
301 |
629 |
1e-76 |
PFAM |
|
Pfam:NADH_dhqG_C
|
658 |
710 |
1.5e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140612
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168099
AA Change: Q140R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968
AA Change: Q140R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
107 |
4.3e-19 |
PFAM |
|
Pfam:Fer2
|
34 |
97 |
1e-11 |
PFAM |
|
NADH-G_4Fe-4S_3
|
113 |
153 |
6.5e-19 |
SMART |
|
Pfam:Molybdopterin
|
301 |
629 |
1e-76 |
PFAM |
|
Pfam:DUF1982
|
657 |
710 |
3.6e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168099
AA Change: Q140R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968
AA Change: Q140R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
107 |
4.3e-19 |
PFAM |
|
Pfam:Fer2
|
34 |
97 |
1e-11 |
PFAM |
|
NADH-G_4Fe-4S_3
|
113 |
153 |
6.5e-19 |
SMART |
|
Pfam:Molybdopterin
|
301 |
629 |
1e-76 |
PFAM |
|
Pfam:DUF1982
|
657 |
710 |
3.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185412
|
| SMART Domains |
Protein: ENSMUSP00000140467
Gene: ENSMUSG00000025968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
79 |
5.3e-10 |
PFAM |
|
Pfam:Fer2
|
34 |
79 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185732
|
| SMART Domains |
Protein: ENSMUSP00000140307
Gene: ENSMUSG00000025968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
107 |
4.4e-18 |
PFAM |
|
Pfam:Fer2
|
34 |
97 |
6.2e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185847
|
| SMART Domains |
Protein: ENSMUSP00000141190
Gene: ENSMUSG00000025968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Molybdopterin
|
1 |
60 |
5.7e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188370
|
| SMART Domains |
Protein: ENSMUSP00000139664
Gene: ENSMUSG00000025968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
96 |
1.1e-13 |
PFAM |
|
Pfam:Fer2
|
34 |
127 |
1.2e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.9556 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,007,502 (GRCm39) |
S943T |
probably benign |
Het |
| Adgrv1 |
T |
G |
13: 81,654,298 (GRCm39) |
E2911A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,430,896 (GRCm39) |
F819S |
probably damaging |
Het |
| Cald1 |
G |
A |
6: 34,723,575 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
G |
T |
3: 144,792,246 (GRCm39) |
Y338* |
probably null |
Het |
| Cmya5 |
C |
T |
13: 93,226,316 (GRCm39) |
G2924D |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,877,611 (GRCm39) |
L2122Q |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,161 (GRCm39) |
F1258S |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,556 (GRCm39) |
V387A |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,620,984 (GRCm39) |
C575R |
probably damaging |
Het |
| Dyrk4 |
C |
T |
6: 126,853,289 (GRCm39) |
V632M |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,609,902 (GRCm39) |
S111P |
possibly damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,789,376 (GRCm39) |
L578Q |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,932,065 (GRCm39) |
F212Y |
probably damaging |
Het |
| Golm2 |
A |
T |
2: 121,763,966 (GRCm39) |
E247D |
probably damaging |
Het |
| Golm2 |
G |
A |
2: 121,763,967 (GRCm39) |
E383K |
probably damaging |
Het |
| Icos |
T |
G |
1: 61,033,856 (GRCm39) |
I162S |
possibly damaging |
Het |
| Kcnj8 |
G |
T |
6: 142,515,959 (GRCm39) |
N49K |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,436,326 (GRCm39) |
M281K |
possibly damaging |
Het |
| Med17 |
T |
C |
9: 15,182,996 (GRCm39) |
K350E |
probably benign |
Het |
| Mpo |
A |
T |
11: 87,690,798 (GRCm39) |
N412I |
probably benign |
Het |
| Mrps24 |
A |
T |
11: 5,654,713 (GRCm39) |
D80E |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,153,516 (GRCm39) |
D134G |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,441,515 (GRCm39) |
V1662A |
possibly damaging |
Het |
| Or10ag53 |
C |
T |
2: 87,083,100 (GRCm39) |
T273I |
probably damaging |
Het |
| Or5p51 |
G |
A |
7: 107,444,470 (GRCm39) |
L157F |
probably benign |
Het |
| Or6c88 |
C |
A |
10: 129,407,238 (GRCm39) |
T238N |
probably damaging |
Het |
| Polq |
G |
A |
16: 36,881,993 (GRCm39) |
A1386T |
probably benign |
Het |
| Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
| Prim1 |
G |
T |
10: 127,856,049 (GRCm39) |
V165L |
possibly damaging |
Het |
| Slc12a2 |
G |
A |
18: 58,031,145 (GRCm39) |
V317I |
probably benign |
Het |
| Tbpl1 |
A |
G |
10: 22,583,748 (GRCm39) |
V103A |
probably damaging |
Het |
| Tmprss11c |
C |
T |
5: 86,437,092 (GRCm39) |
E10K |
probably benign |
Het |
| Unc80 |
T |
G |
1: 66,507,699 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
G |
T |
9: 108,776,690 (GRCm39) |
V30F |
possibly damaging |
Het |
| Vmn1r88 |
T |
C |
7: 12,912,150 (GRCm39) |
Y169H |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,404,626 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,569,623 (GRCm39) |
D1490G |
probably damaging |
Het |
| Zer1 |
T |
A |
2: 30,003,286 (GRCm39) |
S44C |
probably damaging |
Het |
| Zfp106 |
T |
A |
2: 120,365,541 (GRCm39) |
K289* |
probably null |
Het |
| Zfp618 |
A |
G |
4: 63,007,636 (GRCm39) |
Y155C |
probably damaging |
Het |
| Zfp979 |
A |
G |
4: 147,698,223 (GRCm39) |
L162P |
probably damaging |
Het |
|
| Other mutations in Ndufs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01082:Ndufs1
|
APN |
1 |
63,203,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01655:Ndufs1
|
APN |
1 |
63,190,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02532:Ndufs1
|
APN |
1 |
63,209,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02606:Ndufs1
|
APN |
1 |
63,199,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02866:Ndufs1
|
APN |
1 |
63,186,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03036:Ndufs1
|
APN |
1 |
63,202,855 (GRCm39) |
nonsense |
probably null |
|
|
IGL03209:Ndufs1
|
APN |
1 |
63,203,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Ndufs1
|
UTSW |
1 |
63,198,907 (GRCm39) |
unclassified |
probably benign |
|
|
R0165:Ndufs1
|
UTSW |
1 |
63,198,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0505:Ndufs1
|
UTSW |
1 |
63,183,085 (GRCm39) |
splice site |
probably benign |
|
|
R1861:Ndufs1
|
UTSW |
1 |
63,186,576 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2294:Ndufs1
|
UTSW |
1 |
63,200,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Ndufs1
|
UTSW |
1 |
63,203,882 (GRCm39) |
splice site |
probably benign |
|
|
R2873:Ndufs1
|
UTSW |
1 |
63,203,882 (GRCm39) |
splice site |
probably benign |
|
|
R4092:Ndufs1
|
UTSW |
1 |
63,196,405 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4277:Ndufs1
|
UTSW |
1 |
63,209,256 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4782:Ndufs1
|
UTSW |
1 |
63,200,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Ndufs1
|
UTSW |
1 |
63,200,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Ndufs1
|
UTSW |
1 |
63,202,935 (GRCm39) |
missense |
probably benign |
|
|
R5051:Ndufs1
|
UTSW |
1 |
63,204,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5412:Ndufs1
|
UTSW |
1 |
63,205,508 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5632:Ndufs1
|
UTSW |
1 |
63,189,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5705:Ndufs1
|
UTSW |
1 |
63,186,317 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5854:Ndufs1
|
UTSW |
1 |
63,186,548 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5919:Ndufs1
|
UTSW |
1 |
63,182,991 (GRCm39) |
makesense |
probably null |
|
|
R7716:Ndufs1
|
UTSW |
1 |
63,192,016 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7744:Ndufs1
|
UTSW |
1 |
63,200,099 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7785:Ndufs1
|
UTSW |
1 |
63,186,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8108:Ndufs1
|
UTSW |
1 |
63,189,171 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8200:Ndufs1
|
UTSW |
1 |
63,209,331 (GRCm39) |
splice site |
probably null |
|
|
R8491:Ndufs1
|
UTSW |
1 |
63,196,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9007:Ndufs1
|
UTSW |
1 |
63,198,878 (GRCm39) |
unclassified |
probably benign |
|
|
R9179:Ndufs1
|
UTSW |
1 |
63,209,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Ndufs1
|
UTSW |
1 |
63,202,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ndufs1
|
UTSW |
1 |
63,208,410 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Ndufs1
|
UTSW |
1 |
63,202,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGGGCCCAATGTTCTTG -3'
(R):5'- ACCCTGAAAGTCATAATTTCCTAGG -3'
Sequencing Primer
(F):5'- TGTCCTCCACAGCACGC -3'
(R):5'- ACCTTATGAACAAGATCAAACTGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation