Mutagenetix > Incidental Mutation

Incidental Mutation 'R8514:Emc10'

656031

Institutional Source

Beutler Lab

Gene Symbol

Emc10

Ensembl Gene

ENSMUSG00000008140

Gene Name

ER membrane protein complex subunit 10

Synonyms

5430410O10Rik, 2310044H10Rik, Mirta22

MMRRC Submission

067945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8514 (G1)

Quality Score

132.008

Status

Validated

Chromosome

Chromosomal Location

44139361-44145953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44142646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 99 (Q99K)

Ref Sequence

ENSEMBL: ENSMUSP00000113509 (fasta)

Gene Model

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

AlphaFold

Q3TAS6

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: Q99K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113141
Gene: ENSMUSG00000008140
AA Change: Q99K

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: Q99K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113509
Gene: ENSMUSG00000008140
AA Change: Q99K

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

SMART Domains

Protein: ENSMUSP00000116293
Gene: ENSMUSG00000008140
AA Change: Q99K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205359

Predicted Effect

probably benign
Transcript: ENSMUST00000205422

Predicted Effect

probably benign
Transcript: ENSMUST00000206398

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (49/51)

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
Bcam	A	G	7: 19,492,466 (GRCm39)	V543A	probably damaging	Het
Calhm6	G	A	10: 34,002,399 (GRCm39)	T228I	possibly damaging	Het
Capn1	T	C	19: 6,047,854 (GRCm39)	E403G	probably damaging	Het
Casp12	T	C	9: 5,352,735 (GRCm39)	F186L	probably damaging	Het
Ccdc40	A	G	11: 119,121,459 (GRCm39)	Q13R	unknown	Het
Cip2a	T	C	16: 48,817,810 (GRCm39)	V60A	possibly damaging	Het
Ckap2l	G	T	2: 129,127,788 (GRCm39)	A130E	possibly damaging	Het
Creld1	C	T	6: 113,469,830 (GRCm39)	R411C	probably damaging	Het
Dock9	A	T	14: 121,896,199 (GRCm39)	S167T	probably benign	Het
Fryl	T	A	5: 73,242,699 (GRCm39)	I1287L	probably benign	Het
Gjc3	T	A	5: 137,955,772 (GRCm39)	Y171F	probably damaging	Het
Glrp1	GTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTG	1: 88,431,042 (GRCm39)		probably benign	Het
Golga4	T	C	9: 118,384,864 (GRCm39)	V662A	possibly damaging	Het
Gpr33	A	G	12: 52,070,181 (GRCm39)	V286A	probably benign	Het
Htr1d	A	G	4: 136,170,650 (GRCm39)	E293G	probably damaging	Het
Ints6	A	G	14: 62,933,166 (GRCm39)	V847A	possibly damaging	Het
Iqsec3	A	G	6: 121,390,521 (GRCm39)	C317R	unknown	Het
Mdn1	T	A	4: 32,739,857 (GRCm39)	Y3704N	probably damaging	Het
Micall2	C	A	5: 139,701,977 (GRCm39)	R422L	probably damaging	Het
Mndal	T	C	1: 173,687,758 (GRCm39)	D492G	possibly damaging	Het
Myom2	C	T	8: 15,175,153 (GRCm39)	P1244L	possibly damaging	Het
Notch1	A	G	2: 26,362,181 (GRCm39)	C1025R	probably damaging	Het
Nthl1	G	A	17: 24,853,089 (GRCm39)	V98M	probably damaging	Het
Or12e10	A	T	2: 87,641,054 (GRCm39)	I297F	probably damaging	Het
Or4a15	T	C	2: 89,193,573 (GRCm39)	I67V	probably benign	Het
Pank3	A	G	11: 35,667,186 (GRCm39)	D101G	probably null	Het
Phtf2	T	C	5: 21,007,030 (GRCm39)	R178G	possibly damaging	Het
Pitrm1	T	C	13: 6,618,822 (GRCm39)		probably null	Het
Platr25	T	C	13: 62,848,586 (GRCm39)	Y92C	probably damaging	Het
Plpp1	A	T	13: 112,971,462 (GRCm39)	D43V	probably damaging	Het
Prg4	G	A	1: 150,330,396 (GRCm39)	T759I	unknown	Het
Pros1	A	G	16: 62,730,472 (GRCm39)	T321A	probably benign	Het
Rad50	G	A	11: 53,569,766 (GRCm39)	Q882*	probably null	Het
Rasa3	A	C	8: 13,631,322 (GRCm39)	F533V	probably benign	Het
Rgs18	T	A	1: 144,629,765 (GRCm39)	I165F	probably damaging	Het
Rtl1	C	T	12: 109,560,307 (GRCm39)	V511I	possibly damaging	Het
Sdc3	A	G	4: 130,546,072 (GRCm39)	T144A	unknown	Het
Slc9a9	T	C	9: 94,818,418 (GRCm39)	F271L	probably benign	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Spata31e5	C	T	1: 28,817,586 (GRCm39)	V149M	probably damaging	Het
Tcerg1	T	A	18: 42,697,187 (GRCm39)	D759E	probably damaging	Het
Tecta	A	G	9: 42,284,406 (GRCm39)	L893P	probably damaging	Het
Tex101	T	A	7: 24,367,957 (GRCm39)	Q167L	possibly damaging	Het
Tnrc6a	C	T	7: 122,783,438 (GRCm39)	R970*	probably null	Het
Trmt1l	T	C	1: 151,329,742 (GRCm39)	S562P	probably damaging	Het
Tut4	T	A	4: 108,414,554 (GRCm39)	W44R	possibly damaging	Het
Ubn1	A	G	16: 4,891,263 (GRCm39)	E546G	probably damaging	Het
Usp38	T	A	8: 81,712,346 (GRCm39)	Q563L	probably benign	Het
Vmn1r1	C	T	1: 181,985,138 (GRCm39)	V176I	probably benign	Het
Vmn2r1	A	G	3: 63,993,942 (GRCm39)	K96R	probably benign	Het
Vmn2r62	A	G	7: 42,413,992 (GRCm39)	V817A	probably benign	Het
Wdfy3	A	T	5: 101,999,219 (GRCm39)	C3066S	possibly damaging	Het
Yeats4	T	C	10: 117,051,660 (GRCm39)	E199G	possibly 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
R3104: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

Predicted Primers

PCR Primer
(F):5'- GCAACATGACAGCTTCTGGTG -3'
(R):5'- CAACATCTGCCTGACTAGCTAG -3'

Sequencing Primer
(F):5'- CATGACAGCTTCTGGTGGGAAC -3'
(R):5'- TTGCCCACAGCTCCTTAATAGAG -3'

Posted On

2020-10-20