Mutagenetix > Incidental Mutation

Incidental Mutation 'R6494:Ndufb8'

522987

Institutional Source

Beutler Lab

Gene Symbol

Ndufb8

Ensembl Gene

ENSMUSG00000025204

Gene Name

NADH:ubiquinone oxidoreductase subunit B8

Synonyms

2900010I05Rik

MMRRC Submission

044626-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6494 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44537011-44543879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44543744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 33 (V33M)

Ref Sequence

ENSEMBL: ENSMUSP00000130918 (fasta)

Gene Model

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

AlphaFold

Q9D6J5

Predicted Effect

probably null
Transcript: ENSMUST00000026222

SMART Domains

Protein: ENSMUSP00000026222
Gene: ENSMUSG00000025204

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 null
Transcript: ENSMUST00000167027
AA Change: V33M

SMART Domains

Protein: ENSMUSP00000130918
Gene: ENSMUSG00000025204
AA Change: V33M

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 null
Transcript: ENSMUST00000171415

SMART Domains

Protein: ENSMUSP00000128192
Gene: ENSMUSG00000025204

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

probably benign
Transcript: ENSMUST00000169304

SMART Domains

Protein: ENSMUSP00000132421
Gene: ENSMUSG00000025204

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169181

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.4%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	T	C	7: 27,315,774 (GRCm39)	L52P	possibly damaging	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Chic2	T	C	5: 75,204,943 (GRCm39)	E6G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Col5a2	C	A	1: 45,417,487 (GRCm39)	D1363Y	probably damaging	Het
Csmd1	C	T	8: 16,261,709 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,138,591 (GRCm39)	Y211F	probably damaging	Het
Efcab3	A	T	11: 104,990,845 (GRCm39)	Y5460F	possibly damaging	Het
Efcab6	T	A	15: 83,928,523 (GRCm39)		probably null	Het
Eno4	T	A	19: 58,951,226 (GRCm39)	Y237N	probably damaging	Het
Fer1l4	T	A	2: 155,887,390 (GRCm39)	D602V	probably benign	Het
Fgfr2	T	C	7: 129,800,280 (GRCm39)	N337S	probably damaging	Het
Fras1	C	T	5: 96,907,423 (GRCm39)	R3203C	possibly damaging	Het
Gbp2	T	A	3: 142,337,769 (GRCm39)	V295E	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,765,745 (GRCm39)	I366M	possibly damaging	Het
Itsn2	C	T	12: 4,684,792 (GRCm39)	R448*	probably null	Het
Klhl35	G	T	7: 99,122,106 (GRCm39)	W69L	probably damaging	Het
Kpnb1	T	C	11: 97,072,474 (GRCm39)	I154V	probably benign	Het
Lax1	T	A	1: 133,608,186 (GRCm39)	Y185F	probably damaging	Het
Mmp12	C	T	9: 7,353,479 (GRCm39)	P208L	probably damaging	Het
Nptn	T	G	9: 58,531,035 (GRCm39)	C169G	probably damaging	Het
Nuggc	A	T	14: 65,885,671 (GRCm39)	E766V	probably damaging	Het
Or10ag55-ps1	A	T	2: 87,139,520 (GRCm39)	N149I	possibly damaging	Het
Or12e14	A	T	2: 87,187,976 (GRCm39)	K63*	probably null	Het
Pcdhga6	T	A	18: 37,841,594 (GRCm39)	I438N	probably damaging	Het
Pkn2	T	C	3: 142,509,429 (GRCm39)	N721S	possibly damaging	Het
Pole	T	C	5: 110,472,588 (GRCm39)	W1590R	possibly damaging	Het
Prph2	A	G	17: 47,222,007 (GRCm39)	T129A	probably benign	Het
Ptpro	A	T	6: 137,359,640 (GRCm39)	K403N	probably benign	Het
Rbck1	T	C	2: 152,172,886 (GRCm39)	D54G	possibly damaging	Het
Serpinb7	T	A	1: 107,363,076 (GRCm39)	L80*	probably null	Het
Setdb2	T	A	14: 59,639,863 (GRCm39)	Y676F	probably benign	Het
Skint1	G	T	4: 111,867,909 (GRCm39)	C12F	probably benign	Het
Slc22a26	T	A	19: 7,779,651 (GRCm39)	D55V	probably damaging	Het
Slc9a8	G	A	2: 167,266,211 (GRCm39)	V63I	probably damaging	Het
Sox2	T	A	3: 34,705,246 (GRCm39)	S228T	probably benign	Het
Spata31g1	A	G	4: 42,971,924 (GRCm39)	N419S	possibly damaging	Het
Spg11	A	G	2: 121,943,706 (GRCm39)	S149P	probably damaging	Het
Tbc1d19	T	A	5: 53,986,725 (GRCm39)	S45T	probably benign	Het
Tsacc	T	C	3: 88,202,703 (GRCm39)	E11G	probably benign	Het
Ttc7b	C	T	12: 100,461,666 (GRCm39)	A104T	possibly damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Zfp108	T	A	7: 23,960,782 (GRCm39)	F458I	probably damaging	Het
Zfp616	A	T	11: 73,976,018 (GRCm39)	K762N	probably damaging	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
R1637:Ndufb8	UTSW	19	44,543,474 (GRCm39)	missense	probably benign	0.20
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
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'- AAGGACTAAGCCGCAGTGAC -3'
(R):5'- TCTGAGATATTCGGCTGGCG -3'

Sequencing Primer
(F):5'- CAGTGACTGCAGAGGCTG -3'
(R):5'- AAAGGGCCTCAGTCGGTTG -3'

Posted On

2018-06-06