Mutagenetix > Incidental Mutations

Incidental Mutation 'R7376:Ndufb8'

572420

Institutional Source

Beutler Lab

Gene Symbol

Ndufb8

Ensembl Gene

ENSMUSG00000025204

Gene Name

NADH dehydrogenase (ubiquinone) 1 beta subcomplex 8

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7376 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44548572-44555440 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44555355 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 16 (R16K)

Ref Sequence

ENSEMBL: ENSMUSP00000026222 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026222
AA Change: R16K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000026222
Gene: ENSMUSG00000025204
AA Change: R16K

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

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: R16K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000130918
Gene: ENSMUSG00000025204
AA Change: R16K

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

unknown
Transcript: ENSMUST00000168083
AA Change: R16K

SMART Domains

Protein: ENSMUSP00000132740
Gene: ENSMUSG00000025204
AA Change: R16K

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

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

probably benign
Transcript: ENSMUST00000171415
AA Change: R16K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128192
Gene: ENSMUSG00000025204
AA Change: R16K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,291,118	I994V	probably benign	Het
Acan	T	G	7: 79,088,307		probably null	Het
Adamts12	G	A	15: 11,277,339	V680I	possibly damaging	Het
Adgrg7	T	C	16: 56,724,979	I712V	probably damaging	Het
Adgrl3	A	G	5: 81,794,750	H1477R	probably damaging	Het
Adgrv1	T	A	13: 81,518,126	D1937V	probably damaging	Het
Alms1	T	C	6: 85,622,106	S1305P	probably benign	Het
Banp	T	A	8: 121,974,497	M39K	probably damaging	Het
Bbs10	A	G	10: 111,299,250	T75A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
Brinp2	C	T	1: 158,251,368	C295Y	probably damaging	Het
Card11	C	T	5: 140,898,238	V429I	probably benign	Het
Cdca3	G	A	6: 124,832,575	R184H	probably benign	Het
Cep104	A	G	4: 153,983,052		probably null	Het
Clspn	A	G	4: 126,590,637	K1196R	possibly damaging	Het
Cntnap5b	A	G	1: 99,967,269	T89A	possibly damaging	Het
Cpne9	A	T	6: 113,290,013	I136L	probably damaging	Het
Crat	T	A	2: 30,406,465	I330F	probably damaging	Het
Ctbp2	G	T	7: 133,013,968	Q413K	possibly damaging	Het
D630045J12Rik	T	C	6: 38,174,303	E1220G	probably damaging	Het
Dap	A	G	15: 31,235,839	D41G	probably damaging	Het
Dnah14	A	G	1: 181,763,402	I3287V	probably benign	Het
Dsp	A	G	13: 38,172,843	H233R	probably damaging	Het
Dst	T	C	1: 34,192,689	I3121T	probably benign	Het
Espnl	T	G	1: 91,322,314	L61R	probably damaging	Het
Evc2	T	C	5: 37,370,639	S331P	possibly damaging	Het
Gars	A	G	6: 55,073,359	E535G	probably benign	Het
Hfm1	A	G	5: 106,895,218	I650T	possibly damaging	Het
Iyd	T	A	10: 3,545,690	I116N	probably damaging	Het
Kif16b	A	G	2: 142,711,872	L1002S	probably damaging	Het
Kif1bp	C	T	10: 62,559,064	V600I	possibly damaging	Het
Lgi1	G	A	19: 38,284,020	G113D	probably damaging	Het
Lgi2	G	A	5: 52,538,262	R452C	probably damaging	Het
Man2b2	T	G	5: 36,813,378	N764T	probably damaging	Het
Mrps18b	A	G	17: 35,910,695	I246T	probably benign	Het
Muc5b	A	G	7: 141,872,550	T4795A	possibly damaging	Het
Mybl2	G	A	2: 163,082,593	G627D	possibly damaging	Het
Olfr181	A	T	16: 58,925,758	V271E	possibly damaging	Het
P4htm	C	T	9: 108,580,792	V335M	probably damaging	Het
Pbx3	A	G	2: 34,204,877	I249T	probably damaging	Het
Plod3	G	T	5: 136,990,481	V360L	probably benign	Het
Podxl2	C	T	6: 88,849,650	D161N	probably benign	Het
Polr1b	G	T	2: 129,119,073	V651L	probably benign	Het
Prr14	T	C	7: 127,476,577	S586P	probably benign	Het
Pum3	C	T	19: 27,394,328	G575D	probably benign	Het
Rnf157	C	A	11: 116,360,366	A111S	probably benign	Het
Robo3	A	G	9: 37,432,916	L29P	probably damaging	Het
Smarca5	T	C	8: 80,726,051	N342S	probably damaging	Het
Specc1	T	A	11: 62,118,252	I198K	probably benign	Het
Tmem177	A	T	1: 119,910,014	*312R	probably null	Het
Tom1l2	A	T	11: 60,261,200	M172K	probably benign	Het
Tsc22d4	T	C	5: 137,758,152	V3A	unknown	Het
Uhrf1bp1l	G	A	10: 89,809,656	G1197D	probably damaging	Het
Vmn1r128	G	T	7: 21,349,743	G124V	probably damaging	Het
Vmn1r15	T	C	6: 57,258,357	I70T	probably benign	Het
Vmn2r60	A	G	7: 42,195,207	T665A	probably damaging	Het
Vmn2r83	T	C	10: 79,478,956	F346S	probably benign	Het
Wdr7	T	A	18: 63,777,620	D694E	probably damaging	Het

Other mutations in Ndufb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0463:Ndufb8	UTSW	19	44550345	missense	possibly damaging	0.82
R0608:Ndufb8	UTSW	19	44550345	missense	possibly damaging	0.82
R1637:Ndufb8	UTSW	19	44555035	missense	probably benign	0.20
R1663:Ndufb8	UTSW	19	44550381	missense	probably damaging	1.00
R2099:Ndufb8	UTSW	19	44555310	splice site	probably benign
R4287:Ndufb8	UTSW	19	44552691	missense	probably benign	0.12
R6088:Ndufb8	UTSW	19	44555025	missense	probably benign	0.00
R6494:Ndufb8	UTSW	19	44555305	missense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTGGGCACACGAATCCACC -3'
(R):5'- TCTGAGATATTCGGCTGGCG -3'

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

Posted On

2019-09-13