Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02545:Ndufa11'

297776

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufa11

Ensembl Gene

ENSMUSG00000002379

Gene Name

NADH:ubiquinone oxidoreductase subunit A11

Synonyms

2010012C24Rik, B14.7, 11, 14.7kDa

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02545

Quality Score

Status

Chromosome

Chromosomal Location

57024767-57029141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57028338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 72 (F72L)

Ref Sequence

ENSEMBL: ENSMUSP00000002452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002452] [ENSMUST00000067931] [ENSMUST00000164907]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000002452
AA Change: F72L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002452
Gene: ENSMUSG00000002379
AA Change: F72L

Domain	Start	End	E-Value	Type
Pfam:Tim17	19	131	2.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067931

SMART Domains

Protein: ENSMUSP00000064120
Gene: ENSMUSG00000054723

Domain	Start	End	E-Value	Type
coiled coil region	7	45	N/A	INTRINSIC
low complexity region	112	132	N/A	INTRINSIC
low complexity region	140	150	N/A	INTRINSIC
low complexity region	159	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164907

SMART Domains

Protein: ENSMUSP00000132817
Gene: ENSMUSG00000054723

Domain	Start	End	E-Value	Type
low complexity region	20	40	N/A	INTRINSIC
low complexity region	48	58	N/A	INTRINSIC
low complexity region	67	74	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,994 (GRCm39)	L88P	probably damaging	Het
Adamtsl4	G	A	3: 95,590,684 (GRCm39)	Q354*	probably null	Het
Aox3	A	C	1: 58,222,645 (GRCm39)	D1146A	probably damaging	Het
Ap2a1	T	A	7: 44,555,850 (GRCm39)	H340L	probably damaging	Het
Ccni	G	T	5: 93,335,636 (GRCm39)	F167L	probably benign	Het
Ctcf	A	G	8: 106,391,013 (GRCm39)	T207A	probably benign	Het
D930020B18Rik	A	G	10: 121,525,838 (GRCm39)	H580R	possibly damaging	Het
Dnaaf6rt	A	G	1: 31,262,177 (GRCm39)	D53G	probably damaging	Het
Dock3	A	T	9: 106,939,271 (GRCm39)	L159Q	probably damaging	Het
Dync1i2	T	C	2: 71,093,095 (GRCm39)	I630T	possibly damaging	Het
Fchsd2	A	G	7: 100,847,715 (GRCm39)	T202A	probably benign	Het
Gdi2	A	G	13: 3,607,009 (GRCm39)	Y214C	probably damaging	Het
Gna14	T	A	19: 16,511,090 (GRCm39)	S46R	probably damaging	Het
Hfm1	A	G	5: 107,043,153 (GRCm39)	I627T	probably damaging	Het
Ighv1-19	G	A	12: 114,672,359 (GRCm39)	A87V	probably damaging	Het
Itch	G	A	2: 155,014,506 (GRCm39)		probably null	Het
Klrb1b	T	C	6: 128,797,272 (GRCm39)	Q72R	possibly damaging	Het
Lrpprc	A	G	17: 85,082,853 (GRCm39)	F144L	probably benign	Het
Lrrc7	A	G	3: 157,891,011 (GRCm39)		probably benign	Het
Neu1	T	A	17: 35,150,477 (GRCm39)	V32E	probably benign	Het
Or5k17	T	A	16: 58,746,833 (GRCm39)	I34F	possibly damaging	Het
Osmr	T	C	15: 6,853,060 (GRCm39)	K611E	probably damaging	Het
Pcdh20	A	G	14: 88,706,280 (GRCm39)	V340A	possibly damaging	Het
Plxna2	T	A	1: 194,468,998 (GRCm39)		probably benign	Het
Pou6f1	C	T	15: 100,481,306 (GRCm39)	W210*	probably null	Het
Ppat	A	G	5: 77,063,079 (GRCm39)	Y511H	probably damaging	Het
Psme4	T	G	11: 30,791,586 (GRCm39)	V1147G	possibly damaging	Het
Scap	C	T	9: 110,207,758 (GRCm39)	T489I	probably benign	Het
Sptb	A	G	12: 76,654,754 (GRCm39)		probably null	Het
Tcl1b5	T	A	12: 105,146,296 (GRCm39)		probably benign	Het
Trim54	T	A	5: 31,289,509 (GRCm39)		probably benign	Het
Unc13c	C	T	9: 73,388,357 (GRCm39)	R2143Q	probably damaging	Het
Vmn1r56	A	T	7: 5,199,113 (GRCm39)	V168D	probably benign	Het
Vmn2r66	A	T	7: 84,655,798 (GRCm39)	M406K	possibly damaging	Het

Other mutations in Ndufa11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2088:Ndufa11	UTSW	17	57,024,922 (GRCm39)	missense	probably damaging	0.98
R5227:Ndufa11	UTSW	17	57,024,867 (GRCm39)	missense	probably benign	0.17
R5529:Ndufa11	UTSW	17	57,028,059 (GRCm39)	missense	probably damaging	1.00
R6393:Ndufa11	UTSW	17	57,028,331 (GRCm39)	missense	probably damaging	1.00
R6541:Ndufa11	UTSW	17	57,024,867 (GRCm39)	missense	probably benign	0.04
R9238:Ndufa11	UTSW	17	57,028,112 (GRCm39)	missense	probably benign	0.22
R9711:Ndufa11	UTSW	17	57,024,843 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16