Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02878:Mecr'

362694

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mecr

Ensembl Gene

ENSMUSG00000028910

Gene Name

mitochondrial trans-2-enoyl-CoA reductase

Synonyms

Nrbf1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02878

Quality Score

Status

Chromosome

Chromosomal Location

131570781-131595097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 131582019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 133 (A133E)

Ref Sequence

ENSEMBL: ENSMUSP00000030742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030742] [ENSMUST00000137321]

AlphaFold

Q9DCS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000030742
AA Change: A133E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030742
Gene: ENSMUSG00000028910
AA Change: A133E

Domain	Start	End	E-Value	Type
Pfam:ADH_N	70	140	7.7e-11	PFAM
Pfam:ADH_zinc_N	195	332	1.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128116

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137321
AA Change: A167E

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114543
Gene: ENSMUSG00000028910
AA Change: A167E

Domain	Start	End	E-Value	Type
Pfam:ADH_N	104	176	7e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145045

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,029,155 (GRCm39)	D801G	probably benign	Het
Abce1	T	C	8: 80,429,636 (GRCm39)	H95R	possibly damaging	Het
Axl	T	A	7: 25,458,302 (GRCm39)	M818L	probably damaging	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Cdc40	T	C	10: 40,719,118 (GRCm39)	D337G	probably damaging	Het
Cep70	T	C	9: 99,163,160 (GRCm39)		probably benign	Het
Cpeb1	C	T	7: 81,007,074 (GRCm39)	V318I	probably damaging	Het
Crlf1	G	A	8: 70,956,290 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,009,570 (GRCm39)	D3740E	probably benign	Het
Dnajc28	C	T	16: 91,413,329 (GRCm39)	R329Q	possibly damaging	Het
Ehmt2	T	C	17: 35,129,743 (GRCm39)	Y946H	probably damaging	Het
Gapdhs	C	T	7: 30,429,304 (GRCm39)		probably benign	Het
Gpr61	A	T	3: 108,057,344 (GRCm39)	L439H	probably damaging	Het
Klf9	G	T	19: 23,119,633 (GRCm39)		probably benign	Het
Krt73	T	C	15: 101,707,261 (GRCm39)	Y309C	probably damaging	Het
Lrrk1	T	C	7: 65,912,311 (GRCm39)	M1750V	probably benign	Het
Mc1r	G	T	8: 124,134,369 (GRCm39)	G41C	probably damaging	Het
Mon2	T	C	10: 122,842,896 (GRCm39)	N1511S	probably benign	Het
Mrpl13	A	T	15: 55,403,595 (GRCm39)	L106*	probably null	Het
Mrpl48	A	T	7: 100,223,720 (GRCm39)	V1E	possibly damaging	Het
Myo1c	T	A	11: 75,559,859 (GRCm39)	W683R	possibly damaging	Het
Myo9a	G	A	9: 59,815,583 (GRCm39)		probably null	Het
Myrfl	A	T	10: 116,613,310 (GRCm39)	I831K	possibly damaging	Het
Neurl4	T	A	11: 69,797,657 (GRCm39)	Y671N	probably damaging	Het
Opalin	A	T	19: 41,056,108 (GRCm39)	D62E	probably benign	Het
Or1j18	A	T	2: 36,624,489 (GRCm39)	D52V	probably damaging	Het
Or7a41	G	T	10: 78,871,392 (GRCm39)	C254F	probably benign	Het
Otoa	T	C	7: 120,743,076 (GRCm39)	F768L	probably damaging	Het
Pde4b	T	A	4: 102,458,836 (GRCm39)	N497K	probably damaging	Het
Plcl2	T	A	17: 50,914,383 (GRCm39)	L464Q	probably damaging	Het
Rfc3	A	G	5: 151,566,379 (GRCm39)	*357R	probably null	Het
Ryr2	A	G	13: 11,933,205 (GRCm39)	S89P	probably benign	Het
Sema3b	C	T	9: 107,478,192 (GRCm39)	V398I	probably damaging	Het
Setd3	A	G	12: 108,074,814 (GRCm39)		probably null	Het
Sgsh	T	C	11: 119,237,384 (GRCm39)	D410G	probably damaging	Het
Slc9a3	G	T	13: 74,313,476 (GRCm39)	E730*	probably null	Het
Sptb	A	G	12: 76,667,527 (GRCm39)	S857P	probably benign	Het
Tmem132c	T	C	5: 127,640,154 (GRCm39)	L775P	probably damaging	Het
Togaram1	T	C	12: 65,039,400 (GRCm39)	V1158A	possibly damaging	Het
Ttn	A	G	2: 76,607,222 (GRCm39)	F17934L	probably damaging	Het
Ube3b	T	C	5: 114,542,778 (GRCm39)		probably null	Het
Ydjc	A	G	16: 16,965,469 (GRCm39)	E111G	possibly damaging	Het
Zp3r	T	A	1: 130,510,588 (GRCm39)	H443L	probably benign	Het

Other mutations in Mecr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Mecr	APN	4	131,570,907 (GRCm39)	missense	probably benign	0.01
IGL01967:Mecr	APN	4	131,589,192 (GRCm39)	splice site	probably null
IGL02405:Mecr	APN	4	131,590,303 (GRCm39)	critical splice donor site	probably null
R1638:Mecr	UTSW	4	131,585,127 (GRCm39)	missense	possibly damaging	0.92
R1796:Mecr	UTSW	4	131,592,382 (GRCm39)	missense	probably damaging	0.96
R2213:Mecr	UTSW	4	131,581,126 (GRCm39)	critical splice donor site	probably null
R2513:Mecr	UTSW	4	131,581,076 (GRCm39)	missense	probably benign	0.15
R6189:Mecr	UTSW	4	131,592,565 (GRCm39)	critical splice acceptor site	probably null
R6594:Mecr	UTSW	4	131,582,004 (GRCm39)	missense	probably damaging	1.00
R6957:Mecr	UTSW	4	131,589,172 (GRCm39)	missense	probably benign	0.00
R7274:Mecr	UTSW	4	131,581,089 (GRCm39)	missense	probably damaging	1.00
R7341:Mecr	UTSW	4	131,570,986 (GRCm39)	missense	probably null	0.94
R7887:Mecr	UTSW	4	131,588,177 (GRCm39)	splice site	probably null
Z1177:Mecr	UTSW	4	131,581,894 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-12-18