Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Emc3'

559108

Institutional Source

Beutler Lab

Gene Symbol

Emc3

Ensembl Gene

ENSMUSG00000030286

Gene Name

ER membrane protein complex subunit 3

Synonyms

MMRRC Submission

045235-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113514874-113531652 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 113531384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 33 (Y33*)

Ref Sequence

ENSEMBL: ENSMUSP00000032425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032425] [ENSMUST00000036340] [ENSMUST00000204827]

AlphaFold

Q99KI3

Predicted Effect

probably null
Transcript: ENSMUST00000032425
AA Change: Y33*

SMART Domains

Protein: ENSMUSP00000032425
Gene: ENSMUSG00000030286
AA Change: Y33*

Domain	Start	End	E-Value	Type
Pfam:DUF106	5	191	6.2e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036340

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023

Domain	Start	End	E-Value	Type
Pfam:FancD2	1	1415	N/A	PFAM
low complexity region	1430	1450	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204827

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023

Domain	Start	End	E-Value	Type
Pfam:FancD2	1	1402	N/A	PFAM
low complexity region	1417	1437	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	A	1: 26,682,833 (GRCm38)	L1089F	probably benign	Het
Actn1	T	A	12: 80,168,932 (GRCm38)	M816L	possibly damaging	Het
Ahnak	T	C	19: 9,017,668 (GRCm38)	F5439L	probably damaging	Het
Apba2	G	A	7: 64,733,545 (GRCm38)	D369N	probably benign	Het
Arhgap32	A	G	9: 32,186,383 (GRCm38)	N228D	probably benign	Het
Arhgap33	T	A	7: 30,525,871 (GRCm38)		probably null	Het
Cacna1g	C	T	11: 94,439,737 (GRCm38)	C984Y	probably benign	Het
Cadm2	C	A	16: 66,882,832 (GRCm38)	G47*	probably null	Het
Ccdc125	A	G	13: 100,690,358 (GRCm38)	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,814,471 (GRCm38)	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555 (GRCm38)		probably null	Het
Cdc42bpg	A	G	19: 6,310,797 (GRCm38)	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,748,932 (GRCm38)	R275G	probably damaging	Het
Chst4	T	C	8: 110,029,998 (GRCm38)	N411S	possibly damaging	Het
Cir1	A	G	2: 73,286,386 (GRCm38)	V210A	probably damaging	Het
Col6a1	A	G	10: 76,716,259 (GRCm38)		probably null	Het
Crmp1	C	A	5: 37,288,817 (GRCm38)	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,479,181 (GRCm38)	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,170,252 (GRCm38)	Q677L	unknown	Het
Dnah17	G	A	11: 118,129,188 (GRCm38)	T11I	probably benign	Het
Ehd1	A	G	19: 6,297,654 (GRCm38)	H346R	probably benign	Het
Ercc5	G	T	1: 44,161,809 (GRCm38)		probably null	Het
Ercc5	A	T	1: 44,161,808 (GRCm38)		probably null	Het
Fat3	A	C	9: 15,922,837 (GRCm38)	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,421,605 (GRCm38)		probably null	Het
Gm2035	G	A	12: 87,919,722 (GRCm38)	R46W	possibly damaging	Het
Gmnc	C	T	16: 26,960,529 (GRCm38)	D249N	probably benign	Het
Gsn	C	T	2: 35,294,948 (GRCm38)	A305V	probably benign	Het
Haus6	A	T	4: 86,583,752 (GRCm38)	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,738,550 (GRCm38)		probably null	Het
Hoxd9	G	T	2: 74,698,365 (GRCm38)	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,632,216 (GRCm38)	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,437 (GRCm38)	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,815,153 (GRCm38)	V386M	probably damaging	Het
Masp2	A	G	4: 148,612,157 (GRCm38)	S404G	probably benign	Het
Olfr1024	T	A	2: 85,904,142 (GRCm38)	Q304L	probably benign	Het
Olfr1454	A	G	19: 13,064,316 (GRCm38)	I302V	probably benign	Het
Olfr835	G	T	9: 19,035,332 (GRCm38)	D70Y	probably damaging	Het
P4htm	A	T	9: 108,581,860 (GRCm38)	M291K	possibly damaging	Het
Pde6c	T	C	19: 38,133,090 (GRCm38)	S49P	probably benign	Het
Pdzd7	A	G	19: 45,037,114 (GRCm38)	V314A	probably benign	Het
Pfkl	G	A	10: 78,002,082 (GRCm38)	R31*	probably null	Het
Phlpp2	C	A	8: 109,939,953 (GRCm38)	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 133,066,465 (GRCm38)	S56P	probably benign	Het
Plec	A	G	15: 76,205,705 (GRCm38)	V145A	unknown	Het
Prg3	G	A	2: 84,991,504 (GRCm38)	V158I	probably benign	Het
Prg3	G	T	2: 84,993,023 (GRCm38)	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,955,204 (GRCm38)	T370A	probably benign	Het
Rgl2	T	C	17: 33,934,990 (GRCm38)	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,049,626 (GRCm38)	M578K	probably damaging	Het
Siae	G	A	9: 37,616,946 (GRCm38)	V72M	possibly damaging	Het
Smchd1	A	T	17: 71,353,516 (GRCm38)	D1864E	probably benign	Het
Smox	T	C	2: 131,520,566 (GRCm38)	I255T	possibly damaging	Het
Tas2r123	A	G	6: 132,847,698 (GRCm38)	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,690,116 (GRCm38)	I74F	possibly damaging	Het
Timm44	T	C	8: 4,267,311 (GRCm38)	D238G	probably damaging	Het
Tlk2	T	C	11: 105,221,359 (GRCm38)		probably null	Het
Tnc	A	G	4: 64,013,128 (GRCm38)	S782P	probably damaging	Het
Tpr	A	T	1: 150,406,551 (GRCm38)	K336N	probably damaging	Het
Uggt2	A	T	14: 119,019,637 (GRCm38)		probably null	Het
Vmn2r101	T	A	17: 19,612,178 (GRCm38)	I812N	probably damaging	Het
Vps33a	T	C	5: 123,535,215 (GRCm38)	Q436R	probably null	Het
Ywhaq	T	C	12: 21,416,869 (GRCm38)	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,517,474 (GRCm38)	S290P	probably damaging	Het

Other mutations in Emc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01775:Emc3	APN	6	113,531,335 (GRCm38)	missense	possibly damaging	0.82
IGL02347:Emc3	APN	6	113,520,572 (GRCm38)	missense	possibly damaging	0.50
R0044:Emc3	UTSW	6	113,531,383 (GRCm38)	missense	probably benign	0.05
R0626:Emc3	UTSW	6	113,516,031 (GRCm38)	missense	probably benign
R4736:Emc3	UTSW	6	113,531,349 (GRCm38)	missense	possibly damaging	0.71
R7062:Emc3	UTSW	6	113,522,796 (GRCm38)	missense	probably damaging	0.97
R7128:Emc3	UTSW	6	113,517,920 (GRCm38)	missense	probably damaging	1.00
R8510:Emc3	UTSW	6	113,531,389 (GRCm38)	missense	probably damaging	1.00
R8817:Emc3	UTSW	6	113,515,907 (GRCm38)	missense	probably damaging	1.00
R8839:Emc3	UTSW	6	113,519,970 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACTGACGGTTGGCAACTAG -3'
(R):5'- ACTTTCCCGCTAGAAGAACGG -3'

Sequencing Primer
(F):5'- TTAGTACATGCAAGGCCCTG -3'
(R):5'- CTAGAAGAACGGCGCTCTGAC -3'

Posted On

2019-06-26