Mutagenetix > Incidental Mutation

Incidental Mutation 'R4995:Ndufb10'

385216

Institutional Source

Beutler Lab

Gene Symbol

Ndufb10

Ensembl Gene

ENSMUSG00000040048

Gene Name

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10

Synonyms

22kDa, 0610011B04Rik

MMRRC Submission

042589-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R4995 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24722060-24724478 bp(-) (GRCm38)

Type of Mutation

splice site (831 bp from exon)

DNA Base Change (assembly)

T to C at 24722757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008626] [ENSMUST00000045602] [ENSMUST00000054289] [ENSMUST00000135708] [ENSMUST00000146867] [ENSMUST00000170715] [ENSMUST00000152407]

AlphaFold

Q9DCS9

Predicted Effect

probably benign
Transcript: ENSMUST00000008626

SMART Domains

Protein: ENSMUSP00000008626
Gene: ENSMUSG00000008482

Domain	Start	End	E-Value	Type
RING	20	57	1.76e-5	SMART
Pfam:zf-TRAF	102	158	7.5e-9	PFAM
low complexity region	176	193	N/A	INTRINSIC
low complexity region	203	216	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000045602
AA Change: Y62C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043543
Gene: ENSMUSG00000040048
AA Change: Y62C

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
Pfam:NDUFB10	42	168	2.1e-52	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000054289

SMART Domains

Protein: ENSMUSP00000092502
Gene: ENSMUSG00000044533

Domain	Start	End	E-Value	Type
low complexity region	6	53	N/A	INTRINSIC
Pfam:Ribosomal_S5	102	166	5.7e-34	PFAM
Pfam:Ribosomal_S5_C	185	256	2.4e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132803

Predicted Effect

probably damaging
Transcript: ENSMUST00000135708
AA Change: Y77C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120091
Gene: ENSMUSG00000040048
AA Change: Y77C

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
Pfam:NDUFB10	54	149	7.1e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144285

Predicted Effect

probably null
Transcript: ENSMUST00000146867

SMART Domains

Protein: ENSMUSP00000120715
Gene: ENSMUSG00000044533

Domain	Start	End	E-Value	Type
low complexity region	6	53	N/A	INTRINSIC
Pfam:Ribosomal_S5	102	166	1.7e-35	PFAM
Pfam:Ribosomal_S5_C	185	256	8.3e-32	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000170715

SMART Domains

Protein: ENSMUSP00000131474
Gene: ENSMUSG00000044533

Domain	Start	End	E-Value	Type
low complexity region	6	53	N/A	INTRINSIC
Pfam:Ribosomal_S5	101	167	1.1e-31	PFAM
Pfam:Ribosomal_S5_C	184	257	1.3e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000152407

SMART Domains

Protein: ENSMUSP00000114529
Gene: ENSMUSG00000044533

Domain	Start	End	E-Value	Type
low complexity region	6	53	N/A	INTRINSIC
Pfam:Ribosomal_S5	101	167	9.2e-32	PFAM
Pfam:Ribosomal_S5_C	184	257	1.2e-24	PFAM

Meta Mutation Damage Score

0.2357

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (86/87)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	A	2: 19,494,184 (GRCm38)	Q333*	probably null	Het
4930505A04Rik	C	T	11: 30,426,349 (GRCm38)	V173M	probably damaging	Het
Acvrl1	G	A	15: 101,135,860 (GRCm38)	R141H	probably benign	Het
Adprm	A	G	11: 67,041,610 (GRCm38)	F158L	possibly damaging	Het
Aldoart2	C	T	12: 55,566,253 (GRCm38)	T321M	probably benign	Het
Ap3m2	A	G	8: 22,803,776 (GRCm38)	V86A	probably benign	Het
Arhgef19	T	A	4: 141,247,515 (GRCm38)		probably null	Het
Armc4	G	A	18: 7,223,663 (GRCm38)	T460M	probably damaging	Het
Bcl2l12	T	G	7: 44,994,191 (GRCm38)		probably null	Het
Bptf	T	C	11: 107,054,565 (GRCm38)	Q2501R	probably damaging	Het
C230029F24Rik	A	T	1: 49,338,136 (GRCm38)		noncoding transcript	Het
C7	C	T	15: 5,049,592 (GRCm38)	G78D	probably damaging	Het
Caly	T	C	7: 140,070,625 (GRCm38)	T135A	probably benign	Het
Cbl	A	G	9: 44,153,811 (GRCm38)	M740T	possibly damaging	Het
Cbx4	A	G	11: 119,081,211 (GRCm38)	V446A	probably benign	Het
Celsr1	C	A	15: 85,937,911 (GRCm38)	R1735L	probably damaging	Het
Cep250	A	G	2: 155,988,316 (GRCm38)	D135G	probably damaging	Het
Cgn	T	C	3: 94,779,936 (GRCm38)	T19A	probably damaging	Het
Chic2	A	T	5: 75,044,204 (GRCm38)	V32D	probably damaging	Het
Cntln	A	G	4: 85,049,883 (GRCm38)	K780E	probably benign	Het
Col8a2	A	T	4: 126,310,788 (GRCm38)	D197V	probably damaging	Het
Crot	A	T	5: 8,974,000 (GRCm38)	V372E	probably damaging	Het
Cyb561d2	C	T	9: 107,541,548 (GRCm38)	V26M	probably damaging	Het
Ddx5	G	A	11: 106,785,236 (GRCm38)	T237I	probably damaging	Het
Dmxl2	G	T	9: 54,501,441 (GRCm38)		probably benign	Het
Dock8	T	A	19: 25,158,383 (GRCm38)	S1188R	probably benign	Het
Ehbp1	T	A	11: 22,101,073 (GRCm38)	H493L	probably damaging	Het
Eif5b	T	A	1: 38,051,711 (GRCm38)	*1217K	probably null	Het
Eprs	A	G	1: 185,410,139 (GRCm38)		probably benign	Het
Etfdh	T	C	3: 79,605,788 (GRCm38)	D376G	probably benign	Het
Fam186a	T	C	15: 99,945,099 (GRCm38)	Q1088R	probably benign	Het
Fbxw16	G	T	9: 109,441,250 (GRCm38)	T141N	probably damaging	Het
Fgf11	G	A	11: 69,798,759 (GRCm38)	H138Y	probably damaging	Het
Gm1673	G	A	5: 33,984,926 (GRCm38)	R79H	probably damaging	Het
Htra3	T	C	5: 35,671,074 (GRCm38)	E154G	probably damaging	Het
Hydin	T	A	8: 110,569,642 (GRCm38)	V3601D	probably damaging	Het
Jup	G	T	11: 100,379,541 (GRCm38)	S380*	probably null	Het
Klrg1	T	A	6: 122,278,275 (GRCm38)	D66V	probably benign	Het
Llgl1	C	T	11: 60,709,724 (GRCm38)	A633V	probably benign	Het
Lmln	T	A	16: 33,074,097 (GRCm38)	Y203*	probably null	Het
Lrrc58	T	G	16: 37,877,056 (GRCm38)	C165G	probably benign	Het
Lss	T	C	10: 76,547,537 (GRCm38)	V557A	probably benign	Het
Mast4	T	C	13: 102,905,754 (GRCm38)		probably benign	Het
Med13l	C	A	5: 118,730,949 (GRCm38)	P754Q	possibly damaging	Het
Mga	C	T	2: 119,932,582 (GRCm38)	R1240*	probably null	Het
Mgat5b	T	A	11: 116,974,199 (GRCm38)		probably null	Het
Mtor	A	G	4: 148,525,752 (GRCm38)	D1572G	probably damaging	Het
Muc4	T	A	16: 32,754,041 (GRCm38)	S1306T	probably benign	Het
Muc4	T	A	16: 32,754,214 (GRCm38)	S1363T	probably benign	Het
Myo18b	A	G	5: 112,760,392 (GRCm38)	V2005A	probably damaging	Het
Myo1e	G	A	9: 70,353,272 (GRCm38)	D571N	probably benign	Het
Mypn	T	C	10: 63,119,968 (GRCm38)		probably null	Het
Nelfb	G	T	2: 25,206,196 (GRCm38)	D300E	probably benign	Het
Olfr1389	T	A	11: 49,430,655 (GRCm38)	Y60N	probably damaging	Het
Olfr1507	A	T	14: 52,490,531 (GRCm38)	C61*	probably null	Het
Olfr625-ps1	T	A	7: 103,683,367 (GRCm38)	D206E	probably damaging	Het
Olfr668	T	A	7: 104,925,735 (GRCm38)	T10S	probably benign	Het
Pcdha11	C	T	18: 37,011,027 (GRCm38)	T57M	probably benign	Het
Pkp1	A	T	1: 135,880,855 (GRCm38)	I458N	possibly damaging	Het
Prr12	T	A	7: 45,051,229 (GRCm38)		probably benign	Het
Prrc2c	A	T	1: 162,705,310 (GRCm38)		probably benign	Het
Psd4	T	C	2: 24,397,247 (GRCm38)	F397S	probably benign	Het
Pygm	T	C	19: 6,398,139 (GRCm38)	I737T	probably damaging	Het
Rfx1	T	A	8: 84,080,114 (GRCm38)		probably null	Het
Rsl1	A	G	13: 67,182,249 (GRCm38)	T254A	possibly damaging	Het
Sh3rf3	A	G	10: 59,086,824 (GRCm38)	Q574R	probably benign	Het
Spire1	T	C	18: 67,552,779 (GRCm38)		probably null	Het
St6galnac4	G	A	2: 32,594,063 (GRCm38)	G91D	probably damaging	Het
Sytl2	T	C	7: 90,382,257 (GRCm38)		probably benign	Het
Tbpl2	T	A	2: 24,093,860 (GRCm38)	K188N	possibly damaging	Het
Tenm3	A	T	8: 48,229,137 (GRCm38)	M2486K	possibly damaging	Het
Tgoln1	A	C	6: 72,616,140 (GRCm38)	V119G	possibly damaging	Het
Tpgs1	A	T	10: 79,669,491 (GRCm38)	N28Y	probably benign	Het
U2surp	A	C	9: 95,462,794 (GRCm38)		probably benign	Het
Vmn2r103	A	G	17: 19,773,511 (GRCm38)	H50R	probably benign	Het
Vmn2r19	A	G	6: 123,329,910 (GRCm38)	N459S	probably benign	Het
Vmn2r72	T	C	7: 85,738,485 (GRCm38)	S624G	probably damaging	Het
Vps13c	A	G	9: 67,919,321 (GRCm38)	T1415A	probably benign	Het
Vwa5b1	G	A	4: 138,608,843 (GRCm38)	P147S	probably damaging	Het

Other mutations in Ndufb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Ndufb10	APN	17	24,724,184 (GRCm38)	splice site	probably null
R0157:Ndufb10	UTSW	17	24,724,244 (GRCm38)	missense	probably benign	0.39
R0189:Ndufb10	UTSW	17	24,724,235 (GRCm38)	missense	probably benign	0.16
R0834:Ndufb10	UTSW	17	24,722,674 (GRCm38)	missense	probably damaging	1.00
R1164:Ndufb10	UTSW	17	24,722,783 (GRCm38)	missense	probably benign	0.22
R2015:Ndufb10	UTSW	17	24,722,529 (GRCm38)	splice site	probably null
R4687:Ndufb10	UTSW	17	24,722,419 (GRCm38)	missense	possibly damaging	0.89
R5629:Ndufb10	UTSW	17	24,722,682 (GRCm38)	missense	probably damaging	1.00
R7310:Ndufb10	UTSW	17	24,722,214 (GRCm38)	missense	probably damaging	0.99
R8175:Ndufb10	UTSW	17	24,724,192 (GRCm38)	missense	possibly damaging	0.79
R9087:Ndufb10	UTSW	17	24,724,185 (GRCm38)	critical splice donor site	probably null
R9771:Ndufb10	UTSW	17	24,724,184 (GRCm38)	splice site	probably null
X0024:Ndufb10	UTSW	17	24,722,178 (GRCm38)	missense	probably damaging	0.98
Z1177:Ndufb10	UTSW	17	24,722,470 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGGAATCAACATTTCAGGAG -3'
(R):5'- GGGTCTGTAAAAGCTTGGGAC -3'

Sequencing Primer
(F):5'- TCAACATTTCAGGAGAGATGGGGTTC -3'
(R):5'- ACTCTTTGAAGACCAGGCTG -3'

Posted On

2016-05-10