Mutagenetix > Incidental Mutation

Incidental Mutation 'R8165:Ndufb6'

643789

Institutional Source

Beutler Lab

Gene Symbol

Ndufb6

Ensembl Gene

ENSMUSG00000071014

Gene Name

NADH:ubiquinone oxidoreductase subunit B6

Synonyms

LOC230075

MMRRC Submission

067591-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R8165 (G1)

Quality Score

155.008

Status

Validated

Chromosome

Chromosomal Location

40270591-40279421 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 40270665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042575] [ENSMUST00000095128] [ENSMUST00000108108] [ENSMUST00000129758]

AlphaFold

Q3UIU2

Predicted Effect

probably benign
Transcript: ENSMUST00000042575

SMART Domains

Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	29	44	N/A	INTRINSIC
RING	104	142	7.27e-7	SMART
low complexity region	196	209	N/A	INTRINSIC
low complexity region	381	391	N/A	INTRINSIC
low complexity region	434	454	N/A	INTRINSIC
low complexity region	465	478	N/A	INTRINSIC
low complexity region	494	505	N/A	INTRINSIC
low complexity region	522	535	N/A	INTRINSIC
low complexity region	589	610	N/A	INTRINSIC
low complexity region	620	696	N/A	INTRINSIC
low complexity region	756	780	N/A	INTRINSIC
low complexity region	837	860	N/A	INTRINSIC
low complexity region	877	894	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095128

SMART Domains

Protein: ENSMUSP00000092746
Gene: ENSMUSG00000071014

Domain	Start	End	E-Value	Type
Pfam:NDUF_B6	1	128	2e-52	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108108

SMART Domains

Protein: ENSMUSP00000103743
Gene: ENSMUSG00000071014

Domain	Start	End	E-Value	Type
Pfam:NDUF_B6	1	62	1.5e-22	PFAM
Pfam:NDUF_B6	55	97	3.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129758

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: This gene encodes a subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain. This complex functions in electron transport and generation of a proton gradient across the inner mitochondrial membrane to drive ATP synthesis. Data from human cell lines suggests that the encoded subunit may be required for electron transfer activity. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 64,055,289 (GRCm39)		probably null	Het
Amph	A	G	13: 19,279,007 (GRCm39)	K161E	probably benign	Het
Aox1	A	T	1: 58,348,088 (GRCm39)	H602L	probably benign	Het
Areg	A	G	5: 91,291,492 (GRCm39)	N145S	probably damaging	Het
Arhgap29	C	T	3: 121,782,222 (GRCm39)	T142I	probably damaging	Het
Bcar3	C	T	3: 122,304,805 (GRCm39)		probably benign	Het
Brpf3	C	T	17: 29,025,248 (GRCm39)	A107V	probably benign	Het
Btnl2	T	A	17: 34,587,682 (GRCm39)	S509T	possibly damaging	Het
Cacna2d2	A	G	9: 107,402,653 (GRCm39)		probably null	Het
Casz1	C	T	4: 149,028,888 (GRCm39)	P1111L	probably damaging	Het
Ccdc91	C	T	6: 147,533,086 (GRCm39)	T411I	unknown	Het
Chd9	A	C	8: 91,767,769 (GRCm39)	E2422A	probably damaging	Het
Clrn3	T	C	7: 135,130,133 (GRCm39)	I34V	probably benign	Het
Cnksr3	C	T	10: 7,104,467 (GRCm39)	D79N	probably damaging	Het
Cops8	A	G	1: 90,539,729 (GRCm39)		probably null	Het
Cpa2	A	G	6: 30,564,345 (GRCm39)	K392R	probably benign	Het
Dnajc28	G	A	16: 91,413,795 (GRCm39)	R150*	probably null	Het
Dnase1l3	T	C	14: 7,994,299 (GRCm38)		probably benign	Het
Gdpd5	A	T	7: 99,105,689 (GRCm39)	T502S	probably benign	Het
Gp2	A	T	7: 119,049,375 (GRCm39)	D387E	probably damaging	Het
Gpr179	A	G	11: 97,242,364 (GRCm39)	L160P	probably benign	Het
Hmcn1	G	A	1: 150,522,409 (GRCm39)	T3497M	probably benign	Het
Idh3b	T	A	2: 130,122,420 (GRCm39)	T322S	possibly damaging	Het
Kit	A	T	5: 75,781,540 (GRCm39)	N323I	possibly damaging	Het
Kng2	T	C	16: 22,806,246 (GRCm39)	S445G	unknown	Het
Lin54	A	G	5: 100,602,358 (GRCm39)	V393A	probably benign	Het
Lyst	T	A	13: 13,872,945 (GRCm39)	W2715R	probably damaging	Het
Mad1l1	T	C	5: 140,300,813 (GRCm39)	T28A	probably benign	Het
Med7	T	A	11: 46,332,073 (GRCm39)	C223S	probably benign	Het
Megf8	T	A	7: 25,053,298 (GRCm39)	L1823Q	probably damaging	Het
Mga	C	A	2: 119,777,719 (GRCm39)	Q1755K	probably benign	Het
Mgat4b	A	T	11: 50,101,801 (GRCm39)	N22I	probably benign	Het
Neil3	A	G	8: 54,042,129 (GRCm39)	L490P	probably benign	Het
Nek9	C	T	12: 85,350,417 (GRCm39)	V886I	probably benign	Het
Nol4l	A	T	2: 153,262,473 (GRCm39)	Y366*	probably null	Het
Nt5dc2	A	G	14: 30,860,886 (GRCm39)	T354A	probably damaging	Het
Or1j11	T	A	2: 36,311,715 (GRCm39)	Y102N	probably damaging	Het
Pde2a	G	A	7: 101,149,655 (GRCm39)		probably null	Het
Phf1	T	C	17: 27,156,044 (GRCm39)	F444L	possibly damaging	Het
Plin4	G	A	17: 56,414,019 (GRCm39)	T202I	possibly damaging	Het
Plk4	G	C	3: 40,768,009 (GRCm39)	V851L	probably damaging	Het
Pp2d1	A	G	17: 53,822,257 (GRCm39)	S270P	probably damaging	Het
Ripor1	C	A	8: 106,347,520 (GRCm39)	L1028M	unknown	Het
Scn9a	A	G	2: 66,370,874 (GRCm39)	F569L	probably damaging	Het
Sel1l2	T	A	2: 140,104,626 (GRCm39)	L306F	probably damaging	Het
Spic	A	T	10: 88,513,428 (GRCm39)	S86T	probably damaging	Het
Spmip10	T	A	18: 56,722,547 (GRCm39)		probably benign	Het
Stkld1	A	G	2: 26,836,668 (GRCm39)	N278S	probably benign	Het
Taar7d	T	A	10: 23,903,495 (GRCm39)	F126I	probably benign	Het
Tbc1d31	A	G	15: 57,824,345 (GRCm39)	E869G	possibly damaging	Het
Tbcd	C	T	11: 121,384,711 (GRCm39)	T315M	probably benign	Het
Terf2	T	C	8: 107,809,656 (GRCm39)	K221E	possibly damaging	Het
Thsd7a	T	A	6: 12,468,962 (GRCm39)	T539S		Het
Tll2	A	G	19: 41,077,313 (GRCm39)	F818L	possibly damaging	Het
Tmem87a	T	C	2: 120,200,959 (GRCm39)	T427A	possibly damaging	Het
Ush2a	C	A	1: 188,183,952 (GRCm39)	Q1419K	possibly damaging	Het
Vill	T	A	9: 118,895,821 (GRCm39)	F511Y	probably damaging	Het
Virma	T	A	4: 11,542,128 (GRCm39)	D1521E	probably benign	Het
Vps13c	A	G	9: 67,766,072 (GRCm39)	D63G	probably benign	Het
Vrk2	A	G	11: 26,485,575 (GRCm39)	F138L	probably benign	Het
Zfp710	T	C	7: 79,735,775 (GRCm39)	I514T	probably damaging	Het
Zgrf1	T	A	3: 127,357,032 (GRCm39)	F753I	possibly damaging	Het

Other mutations in Ndufb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5748:Ndufb6	UTSW	4	40,279,234 (GRCm39)	missense	probably damaging	1.00
R7131:Ndufb6	UTSW	4	40,279,336 (GRCm39)	start codon destroyed	probably null	0.94
R7395:Ndufb6	UTSW	4	40,277,730 (GRCm39)	missense	probably damaging	0.99
R7637:Ndufb6	UTSW	4	40,273,080 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTCATAGCTTTTCATTCTAGTGCTC -3'
(R):5'- GTTTTCCCTAGGGTGATACAATTC -3'

Sequencing Primer
(F):5'- AGCTTTTCATTCTAGTGCTCAAACAC -3'
(R):5'- CCCTAGGGTGATACAATTCTGGAGAC -3'

Posted On

2020-08-19