Mutagenetix > Incidental Mutation

Incidental Mutation 'R7237:Ndufa4'

562889

Institutional Source

Beutler Lab

Gene Symbol

Ndufa4

Ensembl Gene

ENSMUSG00000029632

Gene Name

Ndufa4, mitochondrial complex associated

Synonyms

MLRQ

MMRRC Submission

045344-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R7237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11900371-11907449 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 11906018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031637] [ENSMUST00000155037] [ENSMUST00000203459] [ENSMUST00000204084] [ENSMUST00000204714] [ENSMUST00000204978]

AlphaFold

Q62425

Predicted Effect

probably null
Transcript: ENSMUST00000031637

SMART Domains

Protein: ENSMUSP00000031637
Gene: ENSMUSG00000029632

Domain	Start	End	E-Value	Type
Pfam:B12D	11	79	5.3e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155037

SMART Domains

Protein: ENSMUSP00000144981
Gene: ENSMUSG00000029629

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC
coiled coil region	61	89	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203459

Predicted Effect

probably null
Transcript: ENSMUST00000204084

Predicted Effect

probably null
Transcript: ENSMUST00000204714

SMART Domains

Protein: ENSMUSP00000145413
Gene: ENSMUSG00000029632

Domain	Start	End	E-Value	Type
Pfam:B12D	11	79	5.3e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000204978

SMART Domains

Protein: ENSMUSP00000144932
Gene: ENSMUSG00000029632

Domain	Start	End	E-Value	Type
Pfam:B12D	11	79	5.3e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (83/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	A	T	2: 20,854,783 (GRCm39)	C1536*	probably null	Het
Armc9	C	A	1: 86,092,571 (GRCm39)	Q169K	possibly damaging	Het
Aspm	T	A	1: 139,405,667 (GRCm39)	M1518K	possibly damaging	Het
AU018091	A	G	7: 3,209,006 (GRCm39)	I360T	probably benign	Het
BB014433	C	A	8: 15,091,765 (GRCm39)	V363L	probably benign	Het
Bcam	T	C	7: 19,503,232 (GRCm39)		probably null	Het
Cacna1g	T	C	11: 94,328,705 (GRCm39)	S1071G	probably benign	Het
Card9	A	T	2: 26,246,787 (GRCm39)	S354T	probably benign	Het
Ccdc87	A	G	19: 4,889,790 (GRCm39)	N94S	probably benign	Het
Cdc27	A	G	11: 104,408,245 (GRCm39)	V555A	probably benign	Het
Coro1a	T	A	7: 126,299,478 (GRCm39)	D411V	probably benign	Het
Cybrd1	GGTCCTGCAC	G	2: 70,948,553 (GRCm39)		probably benign	Het
Cyth1	A	T	11: 118,076,321 (GRCm39)	I95N	probably damaging	Het
Dnah7b	A	T	1: 46,179,126 (GRCm39)	E933V	probably damaging	Het
Dync2h1	A	T	9: 6,993,966 (GRCm39)	I3968N	probably benign	Het
Fam184a	T	C	10: 53,510,489 (GRCm39)		probably benign	Het
Fat3	G	A	9: 16,288,510 (GRCm39)	L338F	probably damaging	Het
Fcgr3	A	G	1: 170,886,870 (GRCm39)	L18P	probably damaging	Het
Gbp5	T	C	3: 142,213,461 (GRCm39)	V459A	probably benign	Het
Gja4	A	T	4: 127,205,956 (GRCm39)	M269K	probably benign	Het
Gm4787	A	G	12: 81,424,442 (GRCm39)	V572A	probably damaging	Het
Grin2d	G	T	7: 45,515,600 (GRCm39)	S131*	probably null	Het
Gys1	A	G	7: 45,104,586 (GRCm39)	D671G	probably benign	Het
Haspin	T	C	11: 73,027,712 (GRCm39)	N459S	probably benign	Het
Hdac10	G	T	15: 89,009,580 (GRCm39)	Q451K	probably benign	Het
Hdac9	T	C	12: 34,424,139 (GRCm39)		probably null	Het
Hmcn1	A	G	1: 150,598,394 (GRCm39)	V1636A	probably damaging	Het
Hpca	A	G	4: 129,012,407 (GRCm39)	L43P	probably damaging	Het
Hycc2	G	A	1: 58,569,107 (GRCm39)	Q491*	probably null	Het
Insm1	C	A	2: 146,064,448 (GRCm39)	A88E	possibly damaging	Het
Itga9	A	G	9: 118,465,670 (GRCm39)	K175E	probably benign	Het
Kif13a	A	G	13: 46,962,632 (GRCm39)		probably null	Het
Kif20b	T	A	19: 34,928,005 (GRCm39)	L1089H	probably damaging	Het
Lamp5	A	T	2: 135,901,755 (GRCm39)	H152L	probably benign	Het
Lrp4	T	C	2: 91,303,528 (GRCm39)	F76L	probably benign	Het
Magi3	T	C	3: 103,935,227 (GRCm39)	D902G	probably damaging	Het
Map10	C	T	8: 126,397,963 (GRCm39)	P452L	probably benign	Het
Mapk6	A	G	9: 75,304,895 (GRCm39)	L174P	probably damaging	Het
Meak7	C	T	8: 120,489,054 (GRCm39)	G410S	probably damaging	Het
Nedd4	A	T	9: 72,632,346 (GRCm39)	E393D	probably benign	Het
Nlrp4b	G	A	7: 10,449,143 (GRCm39)	V449I	probably benign	Het
Nufip2	T	A	11: 77,583,596 (GRCm39)	N503K	probably benign	Het
Or10ac1	T	C	6: 42,515,581 (GRCm39)	D125G	probably damaging	Het
Or6y1	C	T	1: 174,276,905 (GRCm39)	R239C	probably benign	Het
P4ha1	A	G	10: 59,184,065 (GRCm39)	T176A	probably benign	Het
Palm3	A	G	8: 84,756,117 (GRCm39)	K543R	probably benign	Het
Parvg	G	A	15: 84,225,557 (GRCm39)	A302T	probably benign	Het
Pcdh15	A	G	10: 74,420,023 (GRCm39)	D1227G	possibly damaging	Het
Pdzd8	C	T	19: 59,333,571 (GRCm39)	G150D	probably damaging	Het
Pitpnm2	A	G	5: 124,263,360 (GRCm39)		probably null	Het
Pld5	T	C	1: 176,102,301 (GRCm39)	Q47R	possibly damaging	Het
Ppp2r5d	T	C	17: 46,997,206 (GRCm39)	S329G	possibly damaging	Het
Prss56	T	C	1: 87,112,637 (GRCm39)	V144A	probably damaging	Het
Psg28	A	T	7: 18,161,769 (GRCm39)	Y245N	possibly damaging	Het
Ptpn3	C	T	4: 57,239,625 (GRCm39)	V302I	probably damaging	Het
Ptprn2	A	G	12: 117,125,347 (GRCm39)	H627R	probably benign	Het
Rasgrp2	A	T	19: 6,454,838 (GRCm39)	H226L	possibly damaging	Het
Rbm20	C	T	19: 53,839,930 (GRCm39)	T973M	probably benign	Het
Rigi	T	A	4: 40,205,938 (GRCm39)	I885F	probably benign	Het
Riok2	T	A	17: 17,598,045 (GRCm39)	L44Q	probably damaging	Het
Rusc1	G	T	3: 88,998,805 (GRCm39)	Q326K	possibly damaging	Het
Rxylt1	A	T	10: 121,917,523 (GRCm39)	L330*	probably null	Het
Sart3	A	T	5: 113,892,307 (GRCm39)	H397Q	possibly damaging	Het
Sec31b	T	A	19: 44,506,147 (GRCm39)	T920S	probably damaging	Het
Serpinb13	A	G	1: 106,926,679 (GRCm39)	E225G	probably damaging	Het
Slc25a47	T	C	12: 108,821,386 (GRCm39)	L165P	probably damaging	Het
Slc2a10	G	A	2: 165,357,197 (GRCm39)	V286I	probably benign	Het
Slc39a13	G	T	2: 90,895,979 (GRCm39)	T174N	probably benign	Het
Slc7a13	T	A	4: 19,839,364 (GRCm39)	N322K	probably benign	Het
Stk38	T	C	17: 29,193,620 (GRCm39)	T326A	possibly damaging	Het
Sult1a1	T	C	7: 126,272,622 (GRCm39)	M244V	probably benign	Het
Tas2r144	C	T	6: 42,192,800 (GRCm39)	T180I	probably damaging	Het
Tbc1d12	T	A	19: 38,887,346 (GRCm39)	M366K	probably benign	Het
Terb1	T	C	8: 105,221,959 (GRCm39)	I147V	possibly damaging	Het
Tnik	T	C	3: 28,692,568 (GRCm39)	Y820H	probably damaging	Het
Tnxb	C	A	17: 34,901,170 (GRCm39)	L995I	possibly damaging	Het
Trim34b	A	G	7: 103,978,794 (GRCm39)	T14A	possibly damaging	Het
Urb1	T	C	16: 90,588,054 (GRCm39)	E418G	probably damaging	Het
Vmn1r12	T	A	6: 57,136,550 (GRCm39)	C216S	possibly damaging	Het
Vmn2r90	T	A	17: 17,924,249 (GRCm39)	V16E	possibly damaging	Het
Vps11	A	T	9: 44,265,803 (GRCm39)	V492D	probably damaging	Het
Wdr62	A	C	7: 29,969,869 (GRCm39)		probably null	Het
Zc3h14	T	A	12: 98,746,408 (GRCm39)	M539K	probably benign	Het
Zfp871	A	T	17: 32,994,289 (GRCm39)	H295Q	probably damaging	Het

Other mutations in Ndufa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0238:Ndufa4	UTSW	6	11,906,023 (GRCm39)	missense	probably benign	0.14
R1785:Ndufa4	UTSW	6	11,900,574 (GRCm39)	missense	probably benign	0.08
R1786:Ndufa4	UTSW	6	11,900,574 (GRCm39)	missense	probably benign	0.08
R5677:Ndufa4	UTSW	6	11,900,574 (GRCm39)	missense	probably benign	0.04
R6754:Ndufa4	UTSW	6	11,906,052 (GRCm39)	missense	probably benign	0.00
R7272:Ndufa4	UTSW	6	11,905,209 (GRCm39)	nonsense	probably null
R7574:Ndufa4	UTSW	6	11,906,092 (GRCm39)	missense	probably benign	0.00
R8873:Ndufa4	UTSW	6	11,907,360 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACTACAACTTGGGGAGGCG -3'
(R):5'- TCCCATTGTAGGACAAATTAGCC -3'

Sequencing Primer
(F):5'- GGCGAGATTGAGATGAGCTC -3'
(R):5'- CCAAATAGCAGATTTAGAGGTTGGC -3'

Posted On

2019-06-26