Mutagenetix > Incidental Mutation

Incidental Mutation 'R7854:Ndufs2'

607113

Institutional Source

Beutler Lab

Gene Symbol

Ndufs2

Ensembl Gene

ENSMUSG00000013593

Gene Name

NADH:ubiquinone oxidoreductase core subunit S2

Synonyms

MMRRC Submission

045907-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7854 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171062422-171078956 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171066938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 140 (D140G)

Ref Sequence

ENSEMBL: ENSMUSP00000013737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013737] [ENSMUST00000111318] [ENSMUST00000191871] [ENSMUST00000194778]

AlphaFold

Q91WD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000013737
AA Change: D140G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000013737
Gene: ENSMUSG00000013593
AA Change: D140G

Domain	Start	End	E-Value	Type
Pfam:Complex1_49kDa	193	463	1.1e-131	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111318
AA Change: D140G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106950
Gene: ENSMUSG00000013593
AA Change: D140G

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

probably damaging
Transcript: ENSMUST00000191871
AA Change: D61G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141942
Gene: ENSMUSG00000013593
AA Change: D61G

Domain	Start	End	E-Value	Type
Pfam:Complex1_49kDa	114	146	5.3e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000194778
AA Change: D113G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141370
Gene: ENSMUSG00000013593
AA Change: D113G

Domain	Start	End	E-Value	Type
Pfam:Complex1_49kDa	166	231	3.4e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (51/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,741,207 (GRCm39)	I86F	probably damaging	Het
Als2cl	A	G	9: 110,727,564 (GRCm39)	*953W	probably null	Het
Ap1g2	A	G	14: 55,343,390 (GRCm39)	F66L	probably damaging	Het
Aqp12	T	G	1: 92,934,176 (GRCm39)	C18G	probably damaging	Het
Atp9a	T	C	2: 168,490,523 (GRCm39)	I826V	probably benign	Het
C1ra	A	G	6: 124,494,700 (GRCm39)	Q321R	probably benign	Het
Calcoco1	T	C	15: 102,627,991 (GRCm39)	I48V	possibly damaging	Het
Cep63	A	T	9: 102,480,197 (GRCm39)	S269R	probably damaging	Het
Chchd7	T	C	4: 3,943,422 (GRCm39)	V63A	possibly damaging	Het
Dennd5b	T	C	6: 148,969,964 (GRCm39)	D163G	probably benign	Het
Dpep2	T	C	8: 106,716,160 (GRCm39)	D251G		Het
Ercc6	T	C	14: 32,288,249 (GRCm39)	L807P	probably damaging	Het
Fads6	A	T	11: 115,188,222 (GRCm39)	D27E	probably benign	Het
Gfer	C	A	17: 24,913,259 (GRCm39)	D198Y	probably damaging	Het
Glce	A	T	9: 61,977,773 (GRCm39)	I37N	probably benign	Het
Gps2	T	C	11: 69,806,030 (GRCm39)	L128P	probably damaging	Het
Gramd2b	A	G	18: 56,611,926 (GRCm39)	T130A	probably damaging	Het
Hectd4	T	A	5: 121,467,631 (GRCm39)	Y2527N	probably benign	Het
Itpr1	A	G	6: 108,364,330 (GRCm39)	D820G	probably damaging	Het
Itsn2	T	C	12: 4,751,276 (GRCm39)	Y1289H	probably damaging	Het
Kcnh6	A	T	11: 105,908,172 (GRCm39)	I263F	probably damaging	Het
Kcns2	A	T	15: 34,839,917 (GRCm39)	M427L	probably benign	Het
Mptx1	A	T	1: 174,159,966 (GRCm39)	M91L	probably benign	Het
Ms4a20	T	A	19: 11,089,741 (GRCm39)	Y48F	probably benign	Het
Mtx2	A	G	2: 74,699,231 (GRCm39)	Y128C	probably damaging	Het
Myh9	A	T	15: 77,675,953 (GRCm39)	D244E	probably benign	Het
Obscn	T	C	11: 58,981,538 (GRCm39)	T1827A	probably benign	Het
Ogn	A	T	13: 49,774,514 (GRCm39)	Y219F	possibly damaging	Het
Or1ak2	A	G	2: 36,828,036 (GRCm39)	R302G	probably benign	Het
Or51f2	C	T	7: 102,526,992 (GRCm39)	R222*	probably null	Het
Parp4	A	G	14: 56,896,805 (GRCm39)	E1943G	unknown	Het
Pex19	T	G	1: 171,954,417 (GRCm39)		probably null	Het
Prss53	T	C	7: 127,488,117 (GRCm39)	N166S	probably benign	Het
Prx	T	A	7: 27,216,066 (GRCm39)	V328E	probably damaging	Het
Pstpip2	C	T	18: 77,962,004 (GRCm39)	T258I	probably benign	Het
Rasgrp4	C	T	7: 28,850,035 (GRCm39)	P58L	unknown	Het
Ros1	T	C	10: 52,004,563 (GRCm39)	Y1019C	probably damaging	Het
Rptor	T	C	11: 119,748,779 (GRCm39)	M787T	probably benign	Het
Rsf1	GGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCGGCGGC	7: 97,229,131 (GRCm39)		probably benign	Het
Spef2	T	A	15: 9,596,730 (GRCm39)	R1440W	possibly damaging	Het
Spta1	T	A	1: 174,046,396 (GRCm39)		probably null	Het
Sptbn4	T	C	7: 27,061,835 (GRCm39)	I2335V	probably benign	Het
Srp68	G	C	11: 116,144,909 (GRCm39)		probably null	Het
Taar1	A	G	10: 23,796,680 (GRCm39)	D126G	probably benign	Het
Tdrd9	A	G	12: 112,013,395 (GRCm39)	T1210A	probably benign	Het
Tle5	A	G	10: 81,401,481 (GRCm39)	H183R	probably damaging	Het
Tpcn1	A	G	5: 120,687,653 (GRCm39)	F364L	probably damaging	Het
Trav2	A	T	14: 52,805,238 (GRCm39)	K20*	probably null	Het
Trpa1	T	C	1: 14,951,918 (GRCm39)	E927G	probably benign	Het
Tyk2	A	T	9: 21,026,776 (GRCm39)	D637E	probably benign	Het
Vmn1r200	T	C	13: 22,580,009 (GRCm39)	F271L	probably benign	Het
Vmn1r231	T	A	17: 21,110,894 (GRCm39)	D7V	probably damaging	Het
Wwc2	G	A	8: 48,321,512 (GRCm39)	T534I	unknown	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
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
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'- GAGGGCTCATCGTACAGATC -3'
(R):5'- CGCTAGTCTTAAATCATCATGGTAG -3'

Sequencing Primer
(F):5'- GGGTAGAATCTGGAATCTAAACATC -3'
(R):5'- AGTGATTTTGGGGACATTTCATCC -3'

Posted On

2019-12-20