Mutagenetix > Incidental Mutation

Incidental Mutation 'R1715:Emc8'

190940

Institutional Source

Beutler Lab

Gene Symbol

Emc8

Ensembl Gene

ENSMUSG00000031819

Gene Name

ER membrane protein complex subunit 8

Synonyms

Fam158b, Noc4, Cox4nb

MMRRC Submission

039748-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1715 (G1)

Quality Score

148

Status

Not validated

Chromosome

Chromosomal Location

121380653-121394826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121385294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 146 (N146S)

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: N146S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034277
Gene: ENSMUSG00000031819
AA Change: N146S

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: N74S

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: N81S

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: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,982,406 (GRCm39)	T12M	probably damaging	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Atp10a	G	A	7: 58,436,253 (GRCm39)	V348I	probably damaging	Het
Best2	T	C	8: 85,737,852 (GRCm39)	Y181C	probably benign	Het
Btaf1	T	A	19: 36,946,521 (GRCm39)	D442E	probably damaging	Het
Carmil3	T	G	14: 55,741,989 (GRCm39)	V1153G	probably benign	Het
Cc2d2a	A	G	5: 43,876,003 (GRCm39)	I993M	probably damaging	Het
Ccng1	G	A	11: 40,642,941 (GRCm39)	P169S	probably benign	Het
Cip2a	C	T	16: 48,826,082 (GRCm39)	T383I	probably benign	Het
Cmtr2	T	C	8: 110,949,430 (GRCm39)	L580P	probably damaging	Het
Col22a1	T	C	15: 71,878,830 (GRCm39)	E109G	possibly damaging	Het
Cplane1	T	A	15: 8,256,384 (GRCm39)		probably null	Het
Crispld2	G	T	8: 120,750,388 (GRCm39)	W264L	possibly damaging	Het
Cyp2c38	T	C	19: 39,393,239 (GRCm39)	H276R	probably benign	Het
Dag1	A	T	9: 108,085,914 (GRCm39)	V409E	possibly damaging	Het
Efcab15	T	C	11: 103,090,650 (GRCm39)		probably null	Het
Glt8d1	T	C	14: 30,733,478 (GRCm39)	V321A	possibly damaging	Het
Gm5174	C	T	10: 86,492,776 (GRCm39)		noncoding transcript	Het
Hdac10	G	T	15: 89,010,912 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,482,881 (GRCm39)	D3144G	possibly damaging	Het
Ifna11	C	T	4: 88,738,473 (GRCm39)	S93L	probably damaging	Het
Il16	T	C	7: 83,297,936 (GRCm39)	N431S	probably benign	Het
Irf8	A	T	8: 121,481,127 (GRCm39)	E237V	probably damaging	Het
Lrp1b	A	G	2: 41,075,993 (GRCm39)	Y1769H	probably damaging	Het
Lrrc9	A	G	12: 72,524,073 (GRCm39)	N761D	probably damaging	Het
Mbtps1	T	C	8: 120,269,469 (GRCm39)	Y207C	probably benign	Het
Myo9a	A	G	9: 59,739,583 (GRCm39)	E765G	probably damaging	Het
Nlrp3	A	G	11: 59,434,177 (GRCm39)	D80G	probably damaging	Het
Or12k8	G	A	2: 36,975,188 (GRCm39)	P191S	probably damaging	Het
Or2ag15	G	C	7: 106,340,755 (GRCm39)	P129A	probably damaging	Het
Or7g18	A	T	9: 18,787,090 (GRCm39)	I156F	probably benign	Het
Pcyt2	T	A	11: 120,506,677 (GRCm39)		probably null	Het
Plxnd1	T	C	6: 115,945,642 (GRCm39)	T944A	probably benign	Het
Prss3b	A	G	6: 41,009,870 (GRCm39)		probably null	Het
Psd4	A	T	2: 24,295,344 (GRCm39)	I833F	probably damaging	Het
Psmd7	A	G	8: 108,307,817 (GRCm39)	I222T	probably benign	Het
Rap2b	A	G	3: 61,272,611 (GRCm39)	E45G	probably damaging	Het
Rbm22	T	C	18: 60,693,916 (GRCm39)	S7P	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfx4	A	G	10: 84,680,144 (GRCm39)	N107S	probably damaging	Het
Ripk2	T	A	4: 16,155,192 (GRCm39)		probably null	Het
Rpgrip1	T	A	14: 52,378,148 (GRCm39)	C499S	possibly damaging	Het
Scarf1	T	C	11: 75,414,870 (GRCm39)	S515P	probably damaging	Het
Sgip1	T	C	4: 102,772,256 (GRCm39)	V215A	probably benign	Het
Sis	T	C	3: 72,796,343 (GRCm39)	I1813V	possibly damaging	Het
Slc17a3	A	T	13: 24,040,724 (GRCm39)	T317S	probably benign	Het
Slc35e1	T	C	8: 73,237,821 (GRCm39)	N340S	probably benign	Het
Smg6	A	G	11: 74,820,256 (GRCm39)	I176V	probably benign	Het
Smim17	T	C	7: 6,432,325 (GRCm39)	L89S	probably damaging	Het
Synm	T	C	7: 67,386,051 (GRCm39)	N95S	probably damaging	Het
Tdrd9	A	G	12: 112,002,873 (GRCm39)	K841E	possibly damaging	Het
Tep1	G	T	14: 51,092,024 (GRCm39)	F570L	possibly damaging	Het
Tgm3	G	A	2: 129,868,734 (GRCm39)		probably null	Het
Tra2b	T	C	16: 22,071,496 (GRCm39)	Y128C	possibly damaging	Het
Vmn2r17	T	C	5: 109,576,110 (GRCm39)	V327A	probably benign	Het
Wdr20rt	A	T	12: 65,274,088 (GRCm39)	D344V	probably damaging	Het
Zfp940	A	G	7: 29,544,363 (GRCm39)	C515R	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
R3789:Emc8	UTSW	8	121,384,869 (GRCm39)	missense	probably benign	0.06
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'- ATGGCTGAAGCATCCATGCGAC -3'
(R):5'- TGGTGGTGGCCCAGTAAATACCAG -3'

Sequencing Primer
(F):5'- GCATCCATGCGACCAGAAAC -3'
(R):5'- ACTCTGCTCAGCTTTGTAGAAAGG -3'

Posted On

2014-05-14