Mutagenetix > Incidental Mutation

Incidental Mutation 'R3104:Emc10'

262960

Institutional Source

Beutler Lab

Gene Symbol

Emc10

Ensembl Gene

ENSMUSG00000008140

Gene Name

ER membrane protein complex subunit 10

Synonyms

5430410O10Rik, 2310044H10Rik, Mirta22

MMRRC Submission

040578-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3104 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

44139361-44145953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44142616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 109 (R109W)

Ref Sequence

ENSEMBL: ENSMUSP00000116293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107927] [ENSMUST00000118515] [ENSMUST00000118808] [ENSMUST00000138328] [ENSMUST00000205359] [ENSMUST00000205422] [ENSMUST00000206398]

AlphaFold

Q3TAS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000008284
AA Change: R109W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000008284
Gene: ENSMUSG00000008140
AA Change: R109W

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
low complexity region	160	177	N/A	INTRINSIC
transmembrane domain	231	253	N/A	INTRINSIC
low complexity region	256	265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107927

SMART Domains

Protein: ENSMUSP00000103560
Gene: ENSMUSG00000051113

Domain	Start	End	E-Value	Type
low complexity region	70	85	N/A	INTRINSIC
Pfam:DUF3699	91	160	5.6e-20	PFAM
coiled coil region	164	191	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118515
AA Change: R109W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113141
Gene: ENSMUSG00000008140
AA Change: R109W

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	150	167	N/A	INTRINSIC
low complexity region	239	251	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118808
AA Change: R109W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113509
Gene: ENSMUSG00000008140
AA Change: R109W

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	150	167	N/A	INTRINSIC
transmembrane domain	221	243	N/A	INTRINSIC
low complexity region	246	255	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123928

Predicted Effect

probably damaging
Transcript: ENSMUST00000138328
AA Change: R109W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116293
Gene: ENSMUSG00000008140
AA Change: R109W

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	154	171	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206033

Predicted Effect

probably benign
Transcript: ENSMUST00000205359

Predicted Effect

probably benign
Transcript: ENSMUST00000205422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206195

Predicted Effect

probably benign
Transcript: ENSMUST00000206398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206965

Meta Mutation Damage Score

0.3049

Coding Region Coverage

1x: 99.0%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (57/57)

MGI Phenotype

PHENOTYPE: Male mice homozygous for a gene trapped allele display improved glucose tolerance and reduced fertility, while female homozygotes exhibit an increased anxiety-related response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	A	3: 88,961,693 (GRCm39)	V2355E	probably damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Bmp4	G	A	14: 46,623,438 (GRCm39)	A36V	probably benign	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Cdh9	T	C	15: 16,855,900 (GRCm39)	S647P	probably damaging	Het
Cntln	C	T	4: 84,875,406 (GRCm39)	T280M	possibly damaging	Het
Coch	A	G	12: 51,650,204 (GRCm39)	T398A	probably benign	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Csmd1	A	G	8: 17,077,247 (GRCm39)	Y137H	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246 (GRCm39)	L662F	probably benign	Het
Cyp19a1	T	C	9: 54,094,083 (GRCm39)	I60V	probably benign	Het
Cyp2c68	C	T	19: 39,722,757 (GRCm39)	V264I	probably benign	Het
Dbx1	A	T	7: 49,286,417 (GRCm39)	L16H	probably damaging	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dnah7c	T	A	1: 46,837,439 (GRCm39)	Y3951N	probably damaging	Het
Fam124b	T	A	1: 80,190,748 (GRCm39)	I212F	probably damaging	Het
Fam187b	A	G	7: 30,676,665 (GRCm39)	D58G	probably benign	Het
Galnt4	T	C	10: 98,945,243 (GRCm39)	Y323H	probably benign	Het
Gfpt1	A	G	6: 87,034,628 (GRCm39)	D142G	probably benign	Het
Gm5174	A	G	10: 86,492,519 (GRCm39)		noncoding transcript	Het
Gtf2ird2	G	A	5: 134,237,756 (GRCm39)	D278N	probably benign	Het
Herc2	T	A	7: 55,785,103 (GRCm39)	D1480E	probably benign	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Itpr2	A	T	6: 146,214,335 (GRCm39)		probably null	Het
Lgr6	A	G	1: 134,928,210 (GRCm39)		probably null	Het
Lmod2	A	C	6: 24,604,471 (GRCm39)	K482T	probably damaging	Het
Magi3	A	G	3: 103,958,636 (GRCm39)	V483A	probably damaging	Het
Ncam2	A	G	16: 81,262,598 (GRCm39)		probably benign	Het
Nphs1	C	A	7: 30,166,965 (GRCm39)	S724*	probably null	Het
Or5t9	T	C	2: 86,660,035 (GRCm39)	M313T	probably benign	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,727 (GRCm39)	E667G	possibly damaging	Het
Plce1	C	T	19: 38,608,963 (GRCm39)	P424L	probably benign	Het
Plekhg5	C	T	4: 152,196,635 (GRCm39)	T694M	probably damaging	Het
Prkag2	T	A	5: 25,076,067 (GRCm39)	K233*	probably null	Het
Prune2	T	A	19: 17,096,520 (GRCm39)	S675T	probably damaging	Het
Sars1	C	T	3: 108,336,621 (GRCm39)	R302H	probably damaging	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,241,203 (GRCm39)	T74A	probably benign	Het
Sppl2b	A	G	10: 80,703,325 (GRCm39)	E529G	probably benign	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmem51	T	C	4: 141,765,035 (GRCm39)	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Unc80	G	A	1: 66,662,450 (GRCm39)	V1768I	probably benign	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Usp29	T	A	7: 6,965,052 (GRCm39)	C298*	probably null	Het
Usp8	T	C	2: 126,600,432 (GRCm39)	V1050A	probably damaging	Het
Vmn1r38	T	C	6: 66,753,430 (GRCm39)	T229A	probably benign	Het
Yes1	T	C	5: 32,810,515 (GRCm39)	S195P	probably damaging	Het

Other mutations in Emc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03102:Emc10	APN	7	44,141,413 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Emc10	UTSW	7	44,142,627 (GRCm39)	missense
R2016:Emc10	UTSW	7	44,142,616 (GRCm39)	missense	probably damaging	1.00
R2210:Emc10	UTSW	7	44,142,616 (GRCm39)	missense	probably damaging	1.00
R2211:Emc10	UTSW	7	44,142,616 (GRCm39)	missense	probably damaging	1.00
R2902:Emc10	UTSW	7	44,142,616 (GRCm39)	missense	probably damaging	1.00
R3106:Emc10	UTSW	7	44,142,616 (GRCm39)	missense	probably damaging	1.00
R4840:Emc10	UTSW	7	44,142,051 (GRCm39)	missense	probably damaging	1.00
R4967:Emc10	UTSW	7	44,142,612 (GRCm39)	critical splice donor site	probably null
R5294:Emc10	UTSW	7	44,145,863 (GRCm39)	unclassified	probably benign
R8269:Emc10	UTSW	7	44,141,408 (GRCm39)	missense	possibly damaging	0.89
R8514:Emc10	UTSW	7	44,142,646 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCAAACCACGTTTCCCTG -3'
(R):5'- AGTCAGGCACTTGTGACAGC -3'

Sequencing Primer
(F):5'- TCCCTCAAACTGGGCAGAAG -3'
(R):5'- ACTTGTGACAGCTAGGCCTG -3'

Posted On

2015-02-05