Mutagenetix > Incidental Mutation

Incidental Mutation 'R1637:Ndufb8'

173276

Institutional Source

Beutler Lab

Gene Symbol

Ndufb8

Ensembl Gene

ENSMUSG00000025204

Gene Name

NADH:ubiquinone oxidoreductase subunit B8

Synonyms

2900010I05Rik

MMRRC Submission

039673-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44537011-44543879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44543474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 66 (M66I)

Ref Sequence

ENSEMBL: ENSMUSP00000130918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026222] [ENSMUST00000167027] [ENSMUST00000168083] [ENSMUST00000171415] [ENSMUST00000169304]

AlphaFold

Q9D6J5

Predicted Effect

probably benign
Transcript: ENSMUST00000026222
AA Change: M36I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000026222
Gene: ENSMUSG00000025204
AA Change: M36I

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
Pfam:NDUF_B8	15	186	1.1e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166557

Predicted Effect

probably benign
Transcript: ENSMUST00000166808

SMART Domains

Protein: ENSMUSP00000126763
Gene: ENSMUSG00000091471

Domain	Start	End	E-Value	Type
Pfam:NDUF_B8	1	71	1.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167027
AA Change: M66I

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130918
Gene: ENSMUSG00000025204
AA Change: M66I

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
Pfam:NDUF_B8	54	139	2.4e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168083

SMART Domains

Protein: ENSMUSP00000132740
Gene: ENSMUSG00000025204

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168474

Predicted Effect

probably benign
Transcript: ENSMUST00000171415
AA Change: M36I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000128192
Gene: ENSMUSG00000025204
AA Change: M36I

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
Pfam:NDUF_B8	15	157	2.9e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169181

Predicted Effect

probably benign
Transcript: ENSMUST00000169304

SMART Domains

Protein: ENSMUSP00000132421
Gene: ENSMUSG00000025204

Domain	Start	End	E-Value	Type
Pfam:NDUF_B8	1	108	4e-58	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	A	5: 109,886,858 (GRCm39)	H50L	probably benign	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Agpat5	A	G	8: 18,931,827 (GRCm39)	R316G	probably benign	Het
Ankrd39	G	A	1: 36,578,573 (GRCm39)	Q151*	probably null	Het
Arl13b	T	C	16: 62,651,147 (GRCm39)	D30G	probably damaging	Het
Atpaf1	A	G	4: 115,645,499 (GRCm39)	S123G	probably benign	Het
Bicra	A	G	7: 15,706,614 (GRCm39)	S1276P	probably benign	Het
Car1	T	C	3: 14,842,846 (GRCm39)	I60V	possibly damaging	Het
Cnbd2	A	G	2: 156,215,644 (GRCm39)	I411V	probably damaging	Het
Cyp2c37	A	T	19: 39,990,426 (GRCm39)	K375*	probably null	Het
Cysrt1	T	C	2: 25,129,297 (GRCm39)	I72V	probably benign	Het
Dock9	T	A	14: 121,889,187 (GRCm39)	D312V	possibly damaging	Het
Ecd	T	C	14: 20,396,760 (GRCm39)	I42V	probably damaging	Het
Ercc5	A	G	1: 44,206,694 (GRCm39)	T536A	probably benign	Het
Gjd2	A	T	2: 113,841,789 (GRCm39)	Y229*	probably null	Het
Gramd1b	A	T	9: 40,215,834 (GRCm39)		probably null	Het
Hcrtr2	T	C	9: 76,140,281 (GRCm39)	T336A	probably benign	Het
Hjurp	G	A	1: 88,193,843 (GRCm39)	S279F	probably benign	Het
Ift140	C	T	17: 25,244,608 (GRCm39)	L152F	probably benign	Het
Izumo1r	A	G	9: 14,813,105 (GRCm39)	C56R	probably damaging	Het
Kif7	T	C	7: 79,352,585 (GRCm39)	E850G	probably damaging	Het
Larp4b	C	G	13: 9,201,133 (GRCm39)	T335S	probably benign	Het
Lmo7	A	T	14: 102,118,268 (GRCm39)	R42S	probably damaging	Het
Lrrk2	T	G	15: 91,618,261 (GRCm39)	L920R	probably benign	Het
Mapk8	G	A	14: 33,132,919 (GRCm39)	R6C	probably benign	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Myoc	A	G	1: 162,466,936 (GRCm39)	Y35C	probably damaging	Het
Nkpd1	T	C	7: 19,257,904 (GRCm39)	I411T	probably benign	Het
Nrxn3	A	G	12: 89,321,238 (GRCm39)	N382S	possibly damaging	Het
Or2t47	A	T	11: 58,442,246 (GRCm39)	V273E	possibly damaging	Het
Or4c114	A	T	2: 88,905,396 (GRCm39)	L13Q	probably damaging	Het
Pear1	T	C	3: 87,664,060 (GRCm39)	E303G	probably damaging	Het
Plekhg4	T	A	8: 106,108,413 (GRCm39)	M1047K	probably benign	Het
Pofut1	T	G	2: 153,107,709 (GRCm39)	F268C	probably damaging	Het
Psrc1	G	T	3: 108,292,609 (GRCm39)	S134I	probably damaging	Het
Slc6a2	A	T	8: 93,708,618 (GRCm39)	I245F	probably benign	Het
Slc9a1	T	C	4: 133,149,534 (GRCm39)	S787P	probably benign	Het
Sorcs3	T	A	19: 48,736,798 (GRCm39)		probably null	Het
Syne2	C	A	12: 76,042,776 (GRCm39)	H3916N	probably damaging	Het
Taar6	A	G	10: 23,861,079 (GRCm39)	S156P	probably benign	Het
Tnn	A	G	1: 159,975,170 (GRCm39)	F86L	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ttll8	A	G	15: 88,798,647 (GRCm39)	V696A	probably benign	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vmn2r18	A	T	5: 151,508,222 (GRCm39)	C301S	probably damaging	Het
Xdh	T	C	17: 74,207,573 (GRCm39)	Y928C	probably benign	Het
Zfand1	G	A	3: 10,411,042 (GRCm39)	A104V	probably benign	Het

Other mutations in Ndufb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0463:Ndufb8	UTSW	19	44,538,784 (GRCm39)	missense	possibly damaging	0.82
R0608:Ndufb8	UTSW	19	44,538,784 (GRCm39)	missense	possibly damaging	0.82
R1663:Ndufb8	UTSW	19	44,538,820 (GRCm39)	missense	probably damaging	1.00
R2099:Ndufb8	UTSW	19	44,543,749 (GRCm39)	splice site	probably benign
R4287:Ndufb8	UTSW	19	44,541,130 (GRCm39)	missense	probably benign	0.12
R6088:Ndufb8	UTSW	19	44,543,464 (GRCm39)	missense	probably benign	0.00
R6494:Ndufb8	UTSW	19	44,543,744 (GRCm39)	missense	probably null
R7376:Ndufb8	UTSW	19	44,543,794 (GRCm39)	missense	probably benign	0.01
R9093:Ndufb8	UTSW	19	44,538,823 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAGCAAACAGCCTGAGCCAAGC -3'
(R):5'- TCGTGTGCCCAAAGAAGGGATACAG -3'

Sequencing Primer
(F):5'- CCGCACTAATGACTCTGAGG -3'
(R):5'- ATACAGGGTTGCTGTAGTCCG -3'

Posted On

2014-04-24