Mutagenetix > Incidental Mutation

Incidental Mutation 'R0044:Emc3'

18552

Institutional Source

Beutler Lab

Gene Symbol

Emc3

Ensembl Gene

ENSMUSG00000030286

Gene Name

ER membrane protein complex subunit 3

Synonyms

0610039A15Rik, Tmem111

MMRRC Submission

038338-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0044 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

113491848-113508599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 113508344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 34 (V34L)

Ref Sequence

ENSEMBL: ENSMUSP00000032425 (fasta)

Gene Model

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

AlphaFold

Q99KI3

Predicted Effect

probably benign
Transcript: ENSMUST00000032425
AA Change: V34L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000032425
Gene: ENSMUSG00000030286
AA Change: V34L

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

noncoding transcript
Transcript: ENSMUST00000101051

SMART Domains

Protein: ENSMUSP00000098612
Gene: ENSMUSG00000034023

Domain	Start	End	E-Value	Type
Pfam:FancD2	1	129	1.3e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203526

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 79.0%
3x: 68.4%
10x: 42.5%
20x: 22.8%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,453,357 (GRCm39)		probably benign	Het
Adcy2	A	G	13: 68,876,018 (GRCm39)	S495P	possibly damaging	Het
Asxl1	C	T	2: 153,242,129 (GRCm39)	T893I	probably benign	Het
Bpifb2	C	T	2: 153,724,599 (GRCm39)		probably benign	Het
Cdk5rap2	A	T	4: 70,279,138 (GRCm39)	L190H	probably damaging	Het
Cpsf1	A	G	15: 76,483,753 (GRCm39)	V830A	probably benign	Het
Degs2	T	C	12: 108,658,413 (GRCm39)	N189D	probably damaging	Het
Dido1	C	T	2: 180,303,612 (GRCm39)	A1431T	probably damaging	Het
Diras1	G	T	10: 80,857,972 (GRCm39)	S93*	probably null	Het
Gbe1	T	A	16: 70,358,020 (GRCm39)	Y681*	probably null	Het
Herc1	T	A	9: 66,355,457 (GRCm39)	M2236K	probably benign	Het
Hmcn2	A	T	2: 31,302,520 (GRCm39)	Y2948F	probably damaging	Het
Kif1b	A	G	4: 149,348,058 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,357,899 (GRCm39)	I377F	probably damaging	Het
Mavs	C	A	2: 131,083,944 (GRCm39)	T147N	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Ogdhl	T	C	14: 32,061,285 (GRCm39)	V492A	possibly damaging	Het
Parvg	A	G	15: 84,222,083 (GRCm39)	E323G	probably benign	Het
Pgm2l1	A	G	7: 99,899,539 (GRCm39)	N51S	probably benign	Het
Plppr5	T	A	3: 117,465,538 (GRCm39)		probably null	Het
Prkcg	A	T	7: 3,363,517 (GRCm39)		probably benign	Het
Prkg2	C	A	5: 99,120,989 (GRCm39)	D411Y	probably damaging	Het
Ptprd	A	G	4: 76,004,566 (GRCm39)	V63A	probably benign	Het
Raf1	T	A	6: 115,600,476 (GRCm39)	D10V	probably benign	Het
Rrm2b	A	G	15: 37,953,932 (GRCm39)	S39P	possibly damaging	Het
Scn5a	A	G	9: 119,321,113 (GRCm39)		probably null	Het
Spata24	A	G	18: 35,789,887 (GRCm39)	S167P	probably damaging	Het
Spock3	C	T	8: 63,597,041 (GRCm39)	T115I	possibly damaging	Het
Tnfaip3	C	A	10: 18,887,374 (GRCm39)	M50I	probably damaging	Het
Ubr2	A	G	17: 47,303,911 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,164,369 (GRCm39)		probably benign	Het
Xkr9	G	A	1: 13,754,286 (GRCm39)	W93*	probably null	Het

Other mutations in Emc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01775:Emc3	APN	6	113,508,296 (GRCm39)	missense	possibly damaging	0.82
IGL02347:Emc3	APN	6	113,497,533 (GRCm39)	missense	possibly damaging	0.50
R0626:Emc3	UTSW	6	113,492,992 (GRCm39)	missense	probably benign
R4736:Emc3	UTSW	6	113,508,310 (GRCm39)	missense	possibly damaging	0.71
R7062:Emc3	UTSW	6	113,499,757 (GRCm39)	missense	probably damaging	0.97
R7128:Emc3	UTSW	6	113,494,881 (GRCm39)	missense	probably damaging	1.00
R7183:Emc3	UTSW	6	113,508,345 (GRCm39)	nonsense	probably null
R8510:Emc3	UTSW	6	113,508,350 (GRCm39)	missense	probably damaging	1.00
R8817:Emc3	UTSW	6	113,492,868 (GRCm39)	missense	probably damaging	1.00
R8839:Emc3	UTSW	6	113,496,931 (GRCm39)	missense	possibly damaging	0.91

Posted On

2013-03-25