Mutagenetix > Incidental Mutation

Incidental Mutation 'R2373:Emc2'

248212

Institutional Source

Beutler Lab

Gene Symbol

Emc2

Ensembl Gene

ENSMUSG00000022337

Gene Name

ER membrane protein complex subunit 2

Synonyms

Ttc35, 4921531G14Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R2373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43340625-43391159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43377154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 239 (I239N)

Ref Sequence

ENSEMBL: ENSMUSP00000022962 (fasta)

Gene Model

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

AlphaFold

Q9CRD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022962
AA Change: I239N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022962
Gene: ENSMUSG00000022337
AA Change: I239N

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
9130023H24Rik	A	T	7: 127,836,487 (GRCm39)	D35E	probably benign	Het
9330159F19Rik	A	G	10: 29,101,039 (GRCm39)	N471D	probably benign	Het
Ahctf1	A	T	1: 179,623,361 (GRCm39)	F86I	probably damaging	Het
Alpk1	T	C	3: 127,473,457 (GRCm39)	T849A	probably benign	Het
Arfgef1	A	T	1: 10,244,367 (GRCm39)	D965E	probably damaging	Het
Asxl1	A	G	2: 153,243,820 (GRCm39)	T1458A	probably benign	Het
Cdc42bpa	A	T	1: 179,939,349 (GRCm39)	M876L	possibly damaging	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Col12a1	A	T	9: 79,564,095 (GRCm39)	V1710E	probably benign	Het
Corin	G	A	5: 72,496,381 (GRCm39)	S524L	probably damaging	Het
Dennd2c	A	G	3: 103,064,158 (GRCm39)	H658R	probably damaging	Het
Disp3	A	G	4: 148,343,252 (GRCm39)	V553A	probably damaging	Het
Dpm2	T	C	2: 32,462,457 (GRCm39)	F81S	probably benign	Het
Fhip1a	C	T	3: 85,583,404 (GRCm39)	W464*	probably null	Het
Fzd5	C	T	1: 64,774,066 (GRCm39)	G565D	probably damaging	Het
Gpld1	T	C	13: 25,146,839 (GRCm39)	F267S	probably benign	Het
Kif14	C	A	1: 136,407,583 (GRCm39)	A46E	probably damaging	Het
Mta3	G	T	17: 84,091,730 (GRCm39)	E179*	probably null	Het
Ninl	T	G	2: 150,822,037 (GRCm39)	T22P	probably damaging	Het
Pcnx2	T	C	8: 126,480,190 (GRCm39)	N2039S	probably damaging	Het
Rc3h2	A	G	2: 37,269,013 (GRCm39)	S818P	possibly damaging	Het
Scn11a	T	A	9: 119,642,252 (GRCm39)	E162D	probably benign	Het
Slc5a7	A	T	17: 54,584,154 (GRCm39)	W379R	probably damaging	Het
Sptb	C	T	12: 76,667,935 (GRCm39)	V721M	probably damaging	Het
Vmn1r82	T	A	7: 12,038,982 (GRCm39)	V85E	probably damaging	Het
Vmn2r130	T	C	17: 23,280,480 (GRCm39)	I47T	possibly damaging	Het
Vmn2r93	T	A	17: 18,518,665 (GRCm39)	F41L	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
R2507:Emc2	UTSW	15	43,375,094 (GRCm39)	critical splice acceptor site	probably null
R4986:Emc2	UTSW	15	43,375,180 (GRCm39)	missense	probably benign	0.29
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'- AGCTCTAAGGGCTGATGTAAATAC -3'
(R):5'- GCATCTTCTAGTTTAACGTCGGG -3'

Sequencing Primer
(F):5'- TCATGTTATTTTGGACTATGCTGC -3'
(R):5'- AACGTCGGGGTTTTATAATTCTTTTC -3'

Posted On

2014-11-11