Mutagenetix > Incidental Mutation

Incidental Mutation 'R3789:Emc8'

272438

Institutional Source

Beutler Lab

Gene Symbol

Emc8

Ensembl Gene

ENSMUSG00000031819

Gene Name

ER membrane protein complex subunit 8

Synonyms

Fam158b, Noc4, Cox4nb

MMRRC Submission

041604-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121380653-121394826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121384869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 195 (T195A)

Ref Sequence

ENSEMBL: ENSMUSP00000034277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034277] [ENSMUST00000127664] [ENSMUST00000180417] [ENSMUST00000181333] [ENSMUST00000181334] [ENSMUST00000181950]

AlphaFold

O70378

Predicted Effect

probably benign
Transcript: ENSMUST00000034277
AA Change: T195A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034277
Gene: ENSMUSG00000031819
AA Change: T195A

Domain	Start	End	E-Value	Type
Pfam:UPF0172	3	199	4.2e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180417

SMART Domains

Protein: ENSMUSP00000137767
Gene: ENSMUSG00000031819

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	103	1.4e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180909

Predicted Effect

unknown
Transcript: ENSMUST00000181111
AA Change: T115A

Predicted Effect

probably benign
Transcript: ENSMUST00000181333

SMART Domains

Protein: ENSMUSP00000137785
Gene: ENSMUSG00000097919

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	79	4.9e-29	PFAM
Pfam:DUF4597	93	155	2.5e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181334

SMART Domains

Protein: ENSMUSP00000137850
Gene: ENSMUSG00000031819

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	101	6.8e-43	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000181836
AA Change: T130A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181474

Predicted Effect

probably benign
Transcript: ENSMUST00000181950

SMART Domains

Protein: ENSMUSP00000137970
Gene: ENSMUSG00000031819

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	74	1.7e-29	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,460,668 (GRCm39)	I4226N	probably damaging	Het
Abhd16a	A	G	17: 35,320,563 (GRCm39)	N411S	probably damaging	Het
Acvrl1	C	T	15: 101,035,350 (GRCm39)	T292M	probably damaging	Het
Adamts8	T	C	9: 30,870,588 (GRCm39)	S688P	probably damaging	Het
Adprs	A	T	4: 126,210,544 (GRCm39)	I312N	probably damaging	Het
Bclaf3	A	G	X: 158,349,492 (GRCm39)	H619R	probably benign	Het
Clca4a	C	A	3: 144,680,717 (GRCm39)	G20V	probably damaging	Het
Col12a1	C	A	9: 79,547,005 (GRCm39)	V2276L	possibly damaging	Het
Cstdc2	C	A	2: 148,689,878 (GRCm39)	E92*	probably null	Het
Drosha	T	A	15: 12,912,623 (GRCm39)	Y1080*	probably null	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Ebf2	T	A	14: 67,476,942 (GRCm39)		probably null	Het
Frs3	G	A	17: 48,010,621 (GRCm39)		probably null	Het
Fsip2	T	C	2: 82,813,058 (GRCm39)	S640P	probably damaging	Het
Hdhd2	G	A	18: 77,042,883 (GRCm39)		probably null	Het
Hivep3	T	C	4: 119,955,613 (GRCm39)	S1310P	probably damaging	Het
Hltf	C	T	3: 20,123,211 (GRCm39)	P200S	probably damaging	Het
Lnpk	A	T	2: 74,352,607 (GRCm39)	S358R	probably benign	Het
Lrp1	T	C	10: 127,407,838 (GRCm39)	D1817G	possibly damaging	Het
Lrpprc	T	C	17: 85,078,956 (GRCm39)	I253V	probably benign	Het
Map2	A	G	1: 66,456,022 (GRCm39)	T1512A	probably damaging	Het
Mcm9	G	A	10: 53,492,113 (GRCm39)	R403W	probably damaging	Het
Mms22l	A	G	4: 24,517,115 (GRCm39)	D222G	possibly damaging	Het
Mug1	G	A	6: 121,861,587 (GRCm39)	V1350I	probably benign	Het
Or56b2j	T	A	7: 104,353,156 (GRCm39)	D127E	probably damaging	Het
Pclo	A	G	5: 14,730,464 (GRCm39)		probably benign	Het
Plekha7	A	C	7: 115,774,969 (GRCm39)	I175R	probably damaging	Het
Plxnb1	T	A	9: 108,938,355 (GRCm39)	V1303D	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Prmt8	A	T	6: 127,688,110 (GRCm39)	I236N	probably damaging	Het
Rexo2	A	G	9: 48,384,362 (GRCm39)	I139T	probably damaging	Het
Rsbn1l	A	C	5: 21,101,106 (GRCm39)	S811R	probably benign	Het
Sec24b	T	C	3: 129,814,276 (GRCm39)	D345G	probably benign	Het
Serpina1b	A	G	12: 103,695,531 (GRCm39)	S337P	probably damaging	Het
Sinhcaf	A	G	6: 148,827,617 (GRCm39)	S134P	possibly damaging	Het
Snx33	T	C	9: 56,825,844 (GRCm39)	E539G	probably benign	Het
Sorcs3	A	G	19: 48,387,150 (GRCm39)	T212A	possibly damaging	Het
Spa17	T	G	9: 37,523,141 (GRCm39)	K49Q	possibly damaging	Het
St3gal6	C	T	16: 58,305,136 (GRCm39)	E109K	probably benign	Het
Stat4	A	G	1: 52,050,955 (GRCm39)	N5D	probably benign	Het
Tmem232	C	T	17: 65,689,520 (GRCm39)	D532N	probably benign	Het
Tmem232	C	A	17: 65,689,628 (GRCm39)	D496Y	possibly damaging	Het
Tmem81	A	G	1: 132,435,809 (GRCm39)	N205S	probably benign	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vmn2r23	A	T	6: 123,718,348 (GRCm39)	N567I	probably damaging	Het

Other mutations in Emc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Emc8	APN	8	121,385,745 (GRCm39)	missense	probably damaging	1.00
R0057:Emc8	UTSW	8	121,385,822 (GRCm39)	intron	probably benign
R1512:Emc8	UTSW	8	121,384,983 (GRCm39)	missense	possibly damaging	0.96
R1715:Emc8	UTSW	8	121,385,294 (GRCm39)	missense	probably benign	0.08
R4668:Emc8	UTSW	8	121,394,518 (GRCm39)	missense	probably damaging	1.00
R5418:Emc8	UTSW	8	121,385,342 (GRCm39)	missense	probably damaging	1.00
R7036:Emc8	UTSW	8	121,385,790 (GRCm39)	missense	probably benign	0.01
R7464:Emc8	UTSW	8	121,394,657 (GRCm39)	missense	possibly damaging	0.92
R7786:Emc8	UTSW	8	121,394,656 (GRCm39)	missense	probably damaging	0.99
R9525:Emc8	UTSW	8	121,394,656 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCGGGCAGTACAGGACTAAG -3'
(R):5'- GTCCTTAGCAGCCTATTGGTC -3'

Sequencing Primer
(F):5'- TAGGCGACCCACAGTTCTC -3'
(R):5'- CCTTAGCAGCCTATTGGTCTTGGTAG -3'

Posted On

2015-03-25