Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Emc10'

263059

Institutional Source

Beutler Lab

Gene Symbol

Emc10

Ensembl Gene

ENSMUSG00000008140

Gene Name

ER membrane protein complex subunit 10

Synonyms

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3106 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

44489937-44496529 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44493192 bp (GRCm38)

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

probably benign
Transcript: ENSMUST00000205359

Predicted Effect

probably benign
Transcript: ENSMUST00000205422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206033

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	probably benign	Het

Other mutations in Emc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03102:Emc10	APN	7	44491989	missense	probably damaging	1.00
PIT4151001:Emc10	UTSW	7	44493203	missense
R2016:Emc10	UTSW	7	44493192	missense	probably damaging	1.00
R2210:Emc10	UTSW	7	44493192	missense	probably damaging	1.00
R2211:Emc10	UTSW	7	44493192	missense	probably damaging	1.00
R2902:Emc10	UTSW	7	44493192	missense	probably damaging	1.00
R3104:Emc10	UTSW	7	44493192	missense	probably damaging	1.00
R4840:Emc10	UTSW	7	44492627	missense	probably damaging	1.00
R4967:Emc10	UTSW	7	44493188	critical splice donor site	probably null
R5294:Emc10	UTSW	7	44496439	unclassified	probably benign
R8269:Emc10	UTSW	7	44491984	missense	possibly damaging	0.89
R8514:Emc10	UTSW	7	44493222	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAAACCACGTTTCCCTGAC -3'
(R):5'- GAGTCAGGCACTTGTGACAG -3'

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

Posted On

2015-02-05