Mutagenetix > Incidental Mutation

Incidental Mutation 'R4986:Emc2'

385892

Institutional Source

Beutler Lab

Gene Symbol

Emc2

Ensembl Gene

ENSMUSG00000022337

Gene Name

ER membrane protein complex subunit 2

Synonyms

Ttc35, 4921531G14Rik

MMRRC Submission

042580-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R4986 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43340625-43391159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43375180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 226 (M226V)

Ref Sequence

ENSEMBL: ENSMUSP00000022962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022962]

AlphaFold

Q9CRD2

Predicted Effect

probably benign
Transcript: ENSMUST00000022962
AA Change: M226V

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022962
Gene: ENSMUSG00000022337
AA Change: M226V

Domain	Start	End	E-Value	Type
coiled coil region	13	36	N/A	INTRINSIC
Pfam:TPR_2	88	120	6.8e-5	PFAM
Pfam:TPR_19	98	151	5.9e-8	PFAM
Pfam:TPR_19	131	198	3.7e-8	PFAM
Pfam:TPR_2	155	188	2.4e-6	PFAM
Pfam:TPR_8	155	188	1.4e-4	PFAM

Meta Mutation Damage Score

0.1117

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.2%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,573,317 (GRCm39)	C1005S	probably benign	Het
Armh4	A	T	14: 49,989,111 (GRCm39)	D619E	probably damaging	Het
Ccdc34	T	C	2: 109,848,214 (GRCm39)	M1T	probably null	Het
Ceacam5	T	A	7: 17,491,758 (GRCm39)	N709K	possibly damaging	Het
Ces2f	G	A	8: 105,678,657 (GRCm39)	S298N	probably benign	Het
Defa30	T	A	8: 21,625,432 (GRCm39)	Y65*	probably null	Het
Dock3	A	C	9: 106,809,182 (GRCm39)	C1314G	probably damaging	Het
Fat3	T	C	9: 15,909,636 (GRCm39)	Y2122C	probably damaging	Het
Gad1	A	G	2: 70,431,037 (GRCm39)	D560G	probably benign	Het
Gm9944	T	C	4: 144,179,760 (GRCm39)		probably benign	Het
Gpr137c	A	T	14: 45,483,743 (GRCm39)		probably null	Het
Igf2bp2	C	T	16: 21,889,056 (GRCm39)		probably null	Het
Igsf10	T	C	3: 59,236,027 (GRCm39)	T1385A	probably benign	Het
Itpr2	T	A	6: 146,141,840 (GRCm39)	N1734I	probably damaging	Het
Kbtbd6	A	G	14: 79,690,049 (GRCm39)	H248R	probably damaging	Het
Macf1	C	T	4: 123,284,914 (GRCm39)	R5650Q	probably damaging	Het
Mdh1	A	G	11: 21,508,545 (GRCm39)	F266L	possibly damaging	Het
Mecom	G	T	3: 30,034,848 (GRCm39)	P466Q	probably damaging	Het
Muc20	A	G	16: 32,598,009 (GRCm39)		probably benign	Het
Or4x11	A	T	2: 89,867,772 (GRCm39)	N170Y	probably damaging	Het
Or5w8	T	A	2: 87,687,858 (GRCm39)	L113Q	probably damaging	Het
Osmr	A	G	15: 6,846,061 (GRCm39)		probably null	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Sacs	T	A	14: 61,450,492 (GRCm39)	Y4179*	probably null	Het
Septin11	T	C	5: 93,309,100 (GRCm39)	V203A	probably damaging	Het
Skint9	T	A	4: 112,248,910 (GRCm39)	T173S	probably benign	Het
Slain1	A	T	14: 103,925,541 (GRCm39)	R296S	probably damaging	Het
Slc36a3	T	A	11: 55,037,592 (GRCm39)	*93C	probably null	Het
Sp110	G	A	1: 85,519,481 (GRCm39)	P116S	probably benign	Het
Srl	T	C	16: 4,314,646 (GRCm39)	Y332C	probably benign	Het
Ubtf	G	A	11: 102,205,000 (GRCm39)	H95Y	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Ybx1	C	T	4: 119,139,627 (GRCm39)	V123I	probably damaging	Het
Zfp944	A	T	17: 22,558,211 (GRCm39)	H345Q	probably damaging	Het
Zfp993	T	A	4: 146,742,014 (GRCm39)	F113I	probably benign	Het

Other mutations in Emc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Emc2	APN	15	43,375,145 (GRCm39)	missense	probably damaging	1.00
IGL02815:Emc2	APN	15	43,371,326 (GRCm39)	splice site	probably benign
IGL03211:Emc2	APN	15	43,371,068 (GRCm39)	nonsense	probably null
IGL03238:Emc2	APN	15	43,371,249 (GRCm39)	splice site	probably null
R0433:Emc2	UTSW	15	43,360,520 (GRCm39)	splice site	probably null
R1965:Emc2	UTSW	15	43,390,863 (GRCm39)	missense	probably damaging	1.00
R2373:Emc2	UTSW	15	43,377,154 (GRCm39)	missense	probably damaging	1.00
R2507:Emc2	UTSW	15	43,375,094 (GRCm39)	critical splice acceptor site	probably null
R5212:Emc2	UTSW	15	43,374,240 (GRCm39)	missense	probably damaging	1.00
R5368:Emc2	UTSW	15	43,375,207 (GRCm39)	critical splice donor site	probably null
R5751:Emc2	UTSW	15	43,360,453 (GRCm39)	splice site	probably null
R8136:Emc2	UTSW	15	43,375,202 (GRCm39)	missense	probably benign	0.07
R9242:Emc2	UTSW	15	43,358,639 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCATCAAGAGCTAGGGTGTG -3'
(R):5'- TGTCAAACGGCAAGAATGTAC -3'

Sequencing Primer
(F):5'- CATCAAGAGCTAGGGTGTGTTTTAC -3'
(R):5'- ACGGCAAGAATGTACTAAAATTCAC -3'

Posted On

2016-05-10