Mutagenetix > Incidental Mutation

Incidental Mutation 'R6594:Mecr'

524746

Institutional Source

Beutler Lab

Gene Symbol

Mecr

Ensembl Gene

ENSMUSG00000028910

Gene Name

mitochondrial trans-2-enoyl-CoA reductase

Synonyms

Nrbf1

MMRRC Submission

044718-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6594 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131570781-131595097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131582004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 162 (V162E)

Ref Sequence

ENSEMBL: ENSMUSP00000114543 (fasta)

Gene Model

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

AlphaFold

Q9DCS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000030742
AA Change: V128E

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

SMART Domains

Protein: ENSMUSP00000030742
Gene: ENSMUSG00000028910
AA Change: V128E

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

probably damaging
Transcript: ENSMUST00000137321
AA Change: V162E

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

SMART Domains

Protein: ENSMUSP00000114543
Gene: ENSMUSG00000028910
AA Change: V162E

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,113,432 (GRCm39)	N296S	probably benign	Het
Abca13	A	T	11: 9,244,632 (GRCm39)	N2165I	possibly damaging	Het
Anpep	T	A	7: 79,491,109 (GRCm39)		probably null	Het
Bcl2a1b	A	C	9: 89,089,647 (GRCm39)	I145L	probably benign	Het
Ccar2	G	A	14: 70,377,925 (GRCm39)	L687F	probably damaging	Het
Cd69	A	G	6: 129,246,537 (GRCm39)		probably null	Het
Chchd10	A	C	10: 75,772,158 (GRCm39)	Q43P	probably damaging	Het
Ddx55	A	G	5: 124,704,988 (GRCm39)	E415G	probably damaging	Het
Defa41	A	G	8: 21,692,471 (GRCm39)		probably null	Het
Dhx40	A	T	11: 86,676,599 (GRCm39)	C172S	possibly damaging	Het
Epha1	G	A	6: 42,341,625 (GRCm39)	T475I	probably benign	Het
Eri1	T	C	8: 35,949,687 (GRCm39)	T91A	probably damaging	Het
Fscn1	C	T	5: 142,955,783 (GRCm39)	A158V	probably benign	Het
Gm11437	C	T	11: 84,055,386 (GRCm39)	G77R	probably null	Het
Golm1	T	C	13: 59,812,041 (GRCm39)	N94D	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Haus4	C	A	14: 54,781,268 (GRCm39)	E269D	possibly damaging	Het
Hyou1	T	C	9: 44,300,619 (GRCm39)	M896T	probably benign	Het
Itpr2	T	A	6: 146,091,978 (GRCm39)	M2174L	possibly damaging	Het
Kars1	T	C	8: 112,720,299 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 92,949,035 (GRCm39)	M1488V	probably benign	Het
Lrp2	T	C	2: 69,270,267 (GRCm39)	T4106A	possibly damaging	Het
Lrrc20	G	A	10: 61,318,225 (GRCm39)	V16I	possibly damaging	Het
Ms4a4a	C	A	19: 11,363,778 (GRCm39)	A102E	probably damaging	Het
Mycn	T	C	12: 12,990,051 (GRCm39)	D115G	probably damaging	Het
Ninj2	A	T	6: 120,175,750 (GRCm39)	T138S	possibly damaging	Het
Oasl2	G	A	5: 115,044,836 (GRCm39)	V121I	probably benign	Het
Or10s1	T	C	9: 39,986,239 (GRCm39)	L216P	probably damaging	Het
Or2r11	A	T	6: 42,437,309 (GRCm39)	S215T	probably benign	Het
Or7g19	T	C	9: 18,856,127 (GRCm39)	F61S	probably damaging	Het
Pcdha11	A	C	18: 37,144,235 (GRCm39)	I109L	probably benign	Het
Pira1	T	A	7: 3,739,498 (GRCm39)	K457*	probably null	Het
Pon1	A	G	6: 5,185,314 (GRCm39)	L62P	probably damaging	Het
Rp1l1	A	T	14: 64,269,126 (GRCm39)	K1571*	probably null	Het
Sec24d	G	T	3: 123,087,412 (GRCm39)	G193C	probably damaging	Het
Sema3b	A	T	9: 107,476,025 (GRCm39)	M732K	probably benign	Het
Serpinb8	T	C	1: 107,525,201 (GRCm39)	M1T	probably null	Het
Sgip1	T	A	4: 102,819,676 (GRCm39)	V594E	probably damaging	Het
Slc3a2	T	C	19: 8,685,410 (GRCm39)	S197G	probably damaging	Het
Slc44a5	T	C	3: 153,964,660 (GRCm39)	V520A	possibly damaging	Het
Surf6	G	T	2: 26,792,761 (GRCm39)	D13E	possibly damaging	Het
Tmem94	G	A	11: 115,689,112 (GRCm39)	R1341H	probably damaging	Het
Tns2	G	A	15: 102,018,994 (GRCm39)	R395Q	probably benign	Het
Traf7	A	G	17: 24,728,813 (GRCm39)	V591A	possibly damaging	Het
Trim72	T	C	7: 127,609,220 (GRCm39)	S341P	probably damaging	Het
Trps1	A	G	15: 50,694,351 (GRCm39)	V398A	probably damaging	Het
Ube2m	C	A	7: 12,771,617 (GRCm39)	E14*	probably null	Het
Unc119	T	A	11: 78,238,046 (GRCm39)	Y10N	probably damaging	Het
Ush2a	T	C	1: 188,642,995 (GRCm39)	L4119P	possibly damaging	Het
Vcp	A	T	4: 42,993,826 (GRCm39)	I102N	probably damaging	Het
Vmn2r4	A	G	3: 64,296,731 (GRCm39)	S685P	probably damaging	Het
Vmn2r58	T	C	7: 41,486,535 (GRCm39)	M787V	possibly damaging	Het
Vmn2r72	T	C	7: 85,398,892 (GRCm39)	H487R	probably benign	Het
Xcr1	A	G	9: 123,685,309 (GRCm39)	I151T	probably benign	Het
Zfp658	T	C	7: 43,216,701 (GRCm39)	S24P	possibly damaging	Het
Zfyve16	T	C	13: 92,650,326 (GRCm39)	D886G	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
IGL02878:Mecr	APN	4	131,582,019 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTCTATGCCCTCCAGAGTC -3'
(R):5'- ACAGGATTCAACGCCACATG -3'

Sequencing Primer
(F):5'- AACTGGGAGCTCATGTCTTGAAC -3'
(R):5'- CACATGCTGGAGGTAGCCTATTAAC -3'

Posted On

2018-06-22