Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:Ndufv3'

585764

Institutional Source

Beutler Lab

Gene Symbol

Ndufv3

Ensembl Gene

ENSMUSG00000024038

Gene Name

NADH:ubiquinone oxidoreductase core subunit V3

Synonyms

1500032D16Rik

MMRRC Submission

045631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31739089-31750300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31746596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 162 (D162G)

Ref Sequence

ENSEMBL: ENSMUSP00000049000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046288] [ENSMUST00000064798] [ENSMUST00000191598]

AlphaFold

Q8BK30

Predicted Effect

probably damaging
Transcript: ENSMUST00000046288
AA Change: D162G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049000
Gene: ENSMUSG00000024038
AA Change: D162G

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
low complexity region	80	88	N/A	INTRINSIC
low complexity region	151	166	N/A	INTRINSIC
Pfam:NDUFV3	427	461	1.5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000064798

SMART Domains

Protein: ENSMUSP00000066303
Gene: ENSMUSG00000024038

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191598

SMART Domains

Protein: ENSMUSP00000140032
Gene: ENSMUSG00000024038

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

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 one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,911,591 (GRCm39)	T613I	probably benign	Het
Ajuba	T	C	14: 54,813,859 (GRCm39)	E288G	probably damaging	Het
Ankrd12	C	T	17: 66,292,355 (GRCm39)	R1026K	probably benign	Het
Apol7b	T	C	15: 77,307,674 (GRCm39)	T274A	probably benign	Het
Arid4a	A	T	12: 71,109,916 (GRCm39)	R86*	probably null	Het
Asnsd1	C	T	1: 53,387,417 (GRCm39)	G70D	probably damaging	Het
Atg4c	T	A	4: 99,116,797 (GRCm39)	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,085,715 (GRCm39)	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,104,183 (GRCm39)	I209F	possibly damaging	Het
Bsn	T	C	9: 107,990,742 (GRCm39)	D1670G	probably damaging	Het
Cct8	T	A	16: 87,288,210 (GRCm39)	I121F	probably benign	Het
Cd209a	T	G	8: 3,794,151 (GRCm39)	D217A	probably damaging	Het
Cdk19	C	T	10: 40,353,954 (GRCm39)	S456L	possibly damaging	Het
Chd9	C	T	8: 91,721,208 (GRCm39)	H999Y	unknown	Het
Col5a1	G	A	2: 27,841,395 (GRCm39)	V339M	unknown	Het
Cr2	G	A	1: 194,851,648 (GRCm39)	R115*	probably null	Het
Cyb561	A	T	11: 105,828,470 (GRCm39)	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,393,187 (GRCm39)	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,848,342 (GRCm39)	D293E	probably damaging	Het
Dcbld2	T	A	16: 58,244,932 (GRCm39)	C69S	possibly damaging	Het
Dcdc2a	T	C	13: 25,303,356 (GRCm39)	S296P	probably benign	Het
Dmxl1	T	A	18: 50,027,024 (GRCm39)	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,347,098 (GRCm39)	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,126,413 (GRCm39)	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,438,712 (GRCm39)	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,518,619 (GRCm39)	Y594C	probably damaging	Het
Dph7	A	G	2: 24,855,642 (GRCm39)	D147G	probably damaging	Het
Drap1	T	C	19: 5,473,380 (GRCm39)	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,660,837 (GRCm39)	V392E	possibly damaging	Het
Dxo	A	G	17: 35,056,616 (GRCm39)	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,828,645 (GRCm39)	T11K	probably benign	Het
Esyt1	A	G	10: 128,354,801 (GRCm39)	V533A	possibly damaging	Het
Etv3	T	A	3: 87,443,338 (GRCm39)	C307*	probably null	Het
Fam114a1	T	A	5: 65,187,402 (GRCm39)		probably null	Het
Fam3c	T	A	6: 22,326,404 (GRCm39)		probably benign	Het
Fbn1	G	T	2: 125,239,772 (GRCm39)	T305K	probably benign	Het
Ggt1	A	T	10: 75,421,428 (GRCm39)	I484F	probably damaging	Het
Gpatch1	T	C	7: 34,993,237 (GRCm39)	D536G	probably damaging	Het
Gpx4	T	C	10: 79,890,875 (GRCm39)	I189T	probably damaging	Het
Gsr	T	A	8: 34,159,193 (GRCm39)	C85S	probably damaging	Het
Gsta5	A	T	9: 78,211,751 (GRCm39)	D171V	possibly damaging	Het
Havcr1	T	A	11: 46,661,369 (GRCm39)		probably null	Het
Heatr4	T	C	12: 84,026,418 (GRCm39)	T280A	probably benign	Het
Hmcn2	A	T	2: 31,313,923 (GRCm39)	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,312,556 (GRCm39)	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,432,358 (GRCm39)	V13A	probably benign	Het
Itgb2l	A	T	16: 96,227,439 (GRCm39)	F535I	probably benign	Het
Kdm5a	T	G	6: 120,404,803 (GRCm39)	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,503,691 (GRCm39)		probably null	Het
Ky	A	G	9: 102,419,528 (GRCm39)	I512V	probably benign	Het
Lamc1	A	T	1: 153,119,021 (GRCm39)	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,223,687 (GRCm39)		probably benign	Het
Magel2	A	G	7: 62,028,658 (GRCm39)	T521A	possibly damaging	Het
Mgam	A	T	6: 40,723,367 (GRCm39)	I491L	probably benign	Het
Mitd1	T	C	1: 37,929,273 (GRCm39)	E40G	probably damaging	Het
Mpzl3	A	G	9: 44,981,985 (GRCm39)	T218A	probably benign	Het
Mrpl42	A	G	10: 95,316,827 (GRCm39)	S77P	probably benign	Het
Mup5	C	T	4: 61,752,911 (GRCm39)	W37*	probably null	Het
Myh14	T	C	7: 44,281,850 (GRCm39)	I803V	probably benign	Het
Ncor2	T	A	5: 125,107,153 (GRCm39)	T744S		Het
Nostrin	A	G	2: 69,006,150 (GRCm39)	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,469,807 (GRCm39)	E1288A	probably benign	Het
Or4c11c	A	G	2: 88,661,472 (GRCm39)	N4D	possibly damaging	Het
Or51b6b	C	A	7: 103,310,088 (GRCm39)	R123L	probably damaging	Het
Or52h1	T	A	7: 103,828,955 (GRCm39)	Y220F	probably damaging	Het
Or8g55	A	T	9: 39,784,751 (GRCm39)	Y60F	possibly damaging	Het
Patj	T	A	4: 98,312,737 (GRCm39)		probably null	Het
Pcm1	T	G	8: 41,720,381 (GRCm39)	I314R	possibly damaging	Het
Pcsk6	A	G	7: 65,683,646 (GRCm39)	T754A	probably benign	Het
Pde2a	A	T	7: 101,152,041 (GRCm39)	N326I	probably benign	Het
Plekhg4	T	C	8: 106,105,316 (GRCm39)	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,977,065 (GRCm39)	D135G	probably damaging	Het
Plin4	A	T	17: 56,413,776 (GRCm39)	M283K	probably benign	Het
Ppfia3	T	C	7: 44,990,172 (GRCm39)		probably null	Het
Prdm9	T	C	17: 15,775,914 (GRCm39)	N179S	probably benign	Het
Prrt3	T	C	6: 113,471,449 (GRCm39)	S908G	probably damaging	Het
Psg22	C	A	7: 18,456,660 (GRCm39)	S181Y	possibly damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rp1l1	T	A	14: 64,269,023 (GRCm39)	C1536*	probably null	Het
Rpp25l	T	C	4: 41,712,529 (GRCm39)	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,046,396 (GRCm39)	M172L	probably benign	Het
Rtbdn	T	C	8: 85,679,556 (GRCm39)	L110P	probably damaging	Het
Ryr1	T	A	7: 28,778,010 (GRCm39)	Q2169L	probably damaging	Het
Scn4a	A	T	11: 106,211,299 (GRCm39)	C1573S	possibly damaging	Het
Sec16b	A	T	1: 157,358,965 (GRCm39)		probably null	Het
Serpina1a	A	T	12: 103,820,096 (GRCm39)	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 81,934,285 (GRCm39)	M262T	probably benign	Het
Sos2	G	A	12: 69,637,654 (GRCm39)	T1052M	probably damaging	Het
Spag16	G	A	1: 70,036,000 (GRCm39)	V343I	probably benign	Het
Spocd1	T	G	4: 129,823,957 (GRCm39)	D251E		Het
Stc2	G	T	11: 31,317,798 (GRCm39)	N74K	probably damaging	Het
Tasor2	A	G	13: 3,623,621 (GRCm39)	Y2110H	probably damaging	Het
Thbs3	C	T	3: 89,126,359 (GRCm39)	Q227*	probably null	Het
Tmem92	A	C	11: 94,669,816 (GRCm39)	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632 (GRCm39)	N20K	probably benign	Het
Tns1	T	C	1: 73,992,638 (GRCm39)	D53G	probably damaging	Het
Tspan33	T	A	6: 29,717,337 (GRCm39)	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,658,980 (GRCm39)	L392P	probably damaging	Het
Uggt1	T	A	1: 36,224,919 (GRCm39)	T572S	probably benign	Het
Usp17la	A	T	7: 104,509,604 (GRCm39)	T70S	probably damaging	Het
Usp31	C	T	7: 121,274,186 (GRCm39)	R370H	probably damaging	Het
Wdr83	C	T	8: 85,806,463 (GRCm39)	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,416,366 (GRCm39)		probably benign	Het
Zfp110	T	A	7: 12,583,267 (GRCm39)	N638K	possibly damaging	Het
Zfp747l1	T	A	7: 126,984,455 (GRCm39)	S216C	probably benign	Het
Zfp820	T	C	17: 22,037,994 (GRCm39)	T445A	probably benign	Het

Other mutations in Ndufv3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01925:Ndufv3	APN	17	31,746,460 (GRCm39)	missense	possibly damaging	0.92
IGL01974:Ndufv3	APN	17	31,740,583 (GRCm39)	missense	probably benign	0.00
IGL02616:Ndufv3	APN	17	31,746,643 (GRCm39)	missense	probably damaging	0.98
R1823:Ndufv3	UTSW	17	31,750,219 (GRCm39)	missense	probably damaging	0.96
R1824:Ndufv3	UTSW	17	31,750,219 (GRCm39)	missense	probably damaging	0.96
R2095:Ndufv3	UTSW	17	31,746,460 (GRCm39)	missense	possibly damaging	0.92
R4852:Ndufv3	UTSW	17	31,747,043 (GRCm39)	missense	probably benign
R5791:Ndufv3	UTSW	17	31,746,382 (GRCm39)	missense	probably benign	0.12
R5914:Ndufv3	UTSW	17	31,750,206 (GRCm39)	nonsense	probably null
R7081:Ndufv3	UTSW	17	31,746,407 (GRCm39)	missense	possibly damaging	0.80
R8949:Ndufv3	UTSW	17	31,746,742 (GRCm39)	missense	possibly damaging	0.61
R9296:Ndufv3	UTSW	17	31,739,197 (GRCm39)	missense	probably benign
R9587:Ndufv3	UTSW	17	31,747,106 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAGTTCTTACCCATCAGTGG -3'
(R):5'- TTAGGCTGCAGGGTCTTCTC -3'

Sequencing Primer
(F):5'- ACACAGGTGGGGCTGTG -3'
(R):5'- CTTCTCTGGGTAGGTGACATC -3'

Posted On

2019-10-17