Mutagenetix > Incidental Mutation

Incidental Mutation 'R6541:Ndufa11'

520798

Institutional Source

Beutler Lab

Gene Symbol

Ndufa11

Ensembl Gene

ENSMUSG00000002379

Gene Name

NADH:ubiquinone oxidoreductase subunit A11

Synonyms

2010012C24Rik, B14.7, 11, 14.7kDa

MMRRC Submission

044667-MU

Accession Numbers

Essential gene?

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

Stock #

R6541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57024767-57029141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57024867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 10 (S10T)

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 benign
Transcript: ENSMUST00000002452
AA Change: S10T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000002452
Gene: ENSMUSG00000002379
AA Change: S10T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ass1	T	C	2: 31,400,245 (GRCm39)	V321A	probably damaging	Het
BC028528	T	A	3: 95,795,530 (GRCm39)	M91L	probably benign	Het
Bicra	T	C	7: 15,713,054 (GRCm39)	T998A	probably benign	Het
Cdkl3	T	G	11: 51,913,571 (GRCm39)	L220R	probably damaging	Het
Cluh	A	G	11: 74,548,040 (GRCm39)	D117G	probably damaging	Het
Cplane1	T	C	15: 8,248,779 (GRCm39)	V1776A	possibly damaging	Het
Crygf	T	C	1: 65,967,224 (GRCm39)	F116S	probably damaging	Het
Ergic2	T	A	6: 148,084,648 (GRCm39)	Y20F	probably damaging	Het
Esf1	A	G	2: 140,009,799 (GRCm39)	V179A	probably benign	Het
Gm28360	T	C	1: 117,758,047 (GRCm39)		probably benign	Het
Hhatl	C	T	9: 121,614,210 (GRCm39)	V385I	probably damaging	Het
Iba57	A	T	11: 59,049,689 (GRCm39)	D219E	possibly damaging	Het
Il36b	T	A	2: 24,049,827 (GRCm39)	V146D	probably damaging	Het
Itgal	T	A	7: 126,910,734 (GRCm39)	V176E	probably damaging	Het
Kdm3a	T	C	6: 71,571,517 (GRCm39)	M1060V	possibly damaging	Het
Kif18b	T	C	11: 102,805,092 (GRCm39)	K351R	probably damaging	Het
Mroh9	A	G	1: 162,885,607 (GRCm39)	F342L	possibly damaging	Het
Or2bd2	A	T	7: 6,443,492 (GRCm39)	N198Y	probably benign	Het
Or5w19	T	C	2: 87,698,638 (GRCm39)	F101S	probably benign	Het
Or6b6	A	T	7: 106,571,410 (GRCm39)	F47Y	probably benign	Het
Or7h8	T	A	9: 20,123,695 (GRCm39)	F17I	probably benign	Het
Pacsin3	A	G	2: 91,093,129 (GRCm39)	E207G	probably damaging	Het
Pcsk1	T	A	13: 75,274,103 (GRCm39)	L136Q	probably damaging	Het
Prr18	G	T	17: 8,560,168 (GRCm39)	R108L	possibly damaging	Het
Rdh5	A	G	10: 128,753,977 (GRCm39)	V44A	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sh2d4b	T	C	14: 40,542,748 (GRCm39)	T343A	probably benign	Het
Slc16a10	T	C	10: 39,913,268 (GRCm39)	N480S	probably benign	Het
Spaca7b	T	A	8: 11,712,613 (GRCm39)	Q79L	probably benign	Het
Sval3	A	T	6: 41,949,380 (GRCm39)	N73Y	probably damaging	Het
Taar7d	T	C	10: 23,904,129 (GRCm39)	I337T	probably benign	Het
Ttn	T	A	2: 76,577,039 (GRCm39)	Q24618L	possibly damaging	Het
Ugt1a9	T	A	1: 87,999,318 (GRCm39)	V256E	probably damaging	Het
Vmn2r108	T	A	17: 20,701,480 (GRCm39)	I7F	probably benign	Het
Vmn2r55	A	G	7: 12,404,939 (GRCm39)	S155P	probably damaging	Het
Vwa3b	T	A	1: 37,090,842 (GRCm39)	V169E	probably damaging	Het

Other mutations in Ndufa11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02545:Ndufa11	APN	17	57,028,338 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TAAGACCTCGGTACAAACCTGC -3'
(R):5'- GTCTACGCCCCTCAAAAGTC -3'

Sequencing Primer
(F):5'- GGTACAAACCTGCACTGCG -3'
(R):5'- TCAAAAGTCTCAACCTCTTCCG -3'

Posted On

2018-06-06