Mutagenetix > Incidental Mutation

Incidental Mutation 'R3788:Ndufs2'

272356

Institutional Source

Beutler Lab

Gene Symbol

Ndufs2

Ensembl Gene

ENSMUSG00000013593

Gene Name

NADH:ubiquinone oxidoreductase core subunit S2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171062422-171078956 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171062889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 410 (D410G)

Ref Sequence

ENSEMBL: ENSMUSP00000106950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013737] [ENSMUST00000079957] [ENSMUST00000111318] [ENSMUST00000193973] [ENSMUST00000191871] [ENSMUST00000194778]

AlphaFold

Q91WD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000013737
AA Change: D436G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000013737
Gene: ENSMUSG00000013593
AA Change: D436G

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

possibly damaging
Transcript: ENSMUST00000111318
AA Change: D410G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106950
Gene: ENSMUSG00000013593
AA Change: D410G

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: ENSMUST00000191871

SMART Domains

Protein: ENSMUSP00000141942
Gene: ENSMUSG00000013593

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

Meta Mutation Damage Score

0.5399

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,846,561 (GRCm39)	V26E	possibly damaging	Het
Abhd16a	A	G	17: 35,320,563 (GRCm39)	N411S	probably damaging	Het
Akap13	G	A	7: 75,351,901 (GRCm39)		probably null	Het
Aph1b	T	C	9: 66,701,348 (GRCm39)		probably benign	Het
Aspm	C	T	1: 139,390,941 (GRCm39)	T742I	probably damaging	Het
Bclaf3	A	G	X: 158,349,492 (GRCm39)	H619R	probably benign	Het
Bltp2	T	A	11: 78,179,123 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,593,106 (GRCm39)	L1199H	probably damaging	Het
Chd2	G	A	7: 73,096,878 (GRCm39)		probably benign	Het
Clnk	A	G	5: 38,872,341 (GRCm39)	Y310H	probably damaging	Het
Crmp1	A	G	5: 37,441,484 (GRCm39)	D522G	probably damaging	Het
Cyth3	A	G	5: 143,622,298 (GRCm39)		probably benign	Het
Dcbld1	T	A	10: 52,195,754 (GRCm39)	Y392N	probably damaging	Het
Flnc	T	C	6: 29,454,056 (GRCm39)	F1820L	probably damaging	Het
Galnt18	G	A	7: 111,119,322 (GRCm39)	R385*	probably null	Het
Gpatch3	C	A	4: 133,302,479 (GRCm39)	R137S	possibly damaging	Het
Gpc6	C	T	14: 117,861,878 (GRCm39)	P265S	probably damaging	Het
Harbi1	T	A	2: 91,550,952 (GRCm39)	D308E	probably benign	Het
Hdhd2	G	A	18: 77,042,883 (GRCm39)		probably null	Het
Hk1	T	C	10: 62,111,467 (GRCm39)	K737E	possibly damaging	Het
Hnrnpr	G	A	4: 136,063,624 (GRCm39)	V345M	probably damaging	Het
Ift56	T	A	6: 38,380,459 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,040,610 (GRCm39)	H944R	probably damaging	Het
Kdm2a	A	T	19: 4,401,833 (GRCm39)	C207S	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt75	C	T	15: 101,481,956 (GRCm39)	G104D	possibly damaging	Het
Lnpk	A	T	2: 74,352,607 (GRCm39)	S358R	probably benign	Het
Map2	A	G	1: 66,456,022 (GRCm39)	T1512A	probably damaging	Het
Marchf10	T	A	11: 105,287,905 (GRCm39)	L132F	probably damaging	Het
Mfrp	G	A	9: 44,016,754 (GRCm39)	W65*	probably null	Het
Mgat5	A	G	1: 127,294,180 (GRCm39)	D174G	probably benign	Het
Miga2	T	A	2: 30,261,237 (GRCm39)	Y177*	probably null	Het
Mroh3	T	C	1: 136,113,213 (GRCm39)	D747G	probably damaging	Het
Muc5b	A	G	7: 141,417,571 (GRCm39)	T3506A	possibly damaging	Het
Myo7b	G	T	18: 32,107,165 (GRCm39)	P1277T	possibly damaging	Het
Naaa	C	T	5: 92,420,413 (GRCm39)		probably null	Het
Or51a25	A	G	7: 102,372,694 (GRCm39)		probably null	Het
Or5p78	T	A	7: 108,212,280 (GRCm39)	Y255*	probably null	Het
Or7e177	A	G	9: 20,211,666 (GRCm39)	I58V	probably benign	Het
Or8g35	A	G	9: 39,381,365 (GRCm39)	I219T	probably benign	Het
Osbp	A	T	19: 11,956,285 (GRCm39)	Y409F	probably benign	Het
Plxnb1	T	A	9: 108,938,355 (GRCm39)	V1303D	possibly damaging	Het
Prkcg	G	A	7: 3,362,263 (GRCm39)	D246N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sbf1	G	A	15: 89,183,731 (GRCm39)	R1261*	probably null	Het
Scn4a	T	C	11: 106,235,100 (GRCm39)	N341S	probably damaging	Het
Sec61a2	C	A	2: 5,884,436 (GRCm39)		probably null	Het
Sgcd	T	A	11: 47,246,032 (GRCm39)	K57*	probably null	Het
Sinhcaf	A	G	6: 148,827,617 (GRCm39)	S134P	possibly damaging	Het
Slc12a5	T	C	2: 164,835,695 (GRCm39)	L861P	probably damaging	Het
Slc6a16	A	G	7: 44,909,386 (GRCm39)	D184G	probably benign	Het
Snx7	A	G	3: 117,632,639 (GRCm39)		probably benign	Het
Sptbn2	A	G	19: 4,795,950 (GRCm39)	I1710V	probably damaging	Het
Sytl2	A	T	7: 90,025,289 (GRCm39)	I426F	probably benign	Het
Tdp1	A	G	12: 99,858,011 (GRCm39)		probably benign	Het
Tmem232	C	A	17: 65,689,628 (GRCm39)	D496Y	possibly damaging	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	T	C	2: 76,775,618 (GRCm39)	E1854G	unknown	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vmn2r98	A	T	17: 19,300,887 (GRCm39)	T630S	probably benign	Het
Xrcc1	G	C	7: 24,266,333 (GRCm39)	A220P	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
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'- AAATGTTATCACCAGAGGTCCAG -3'
(R):5'- AAACAAGGTCTGTGGCTGG -3'

Sequencing Primer
(F):5'- TTATGATGTCCAAGAAACTCCGGC -3'
(R):5'- GCTGGCTTAGAATTCTCTATGTAGAC -3'

Posted On

2015-03-25