Mutagenetix > Incidental Mutation

Incidental Mutation 'R0664:Emc9'

61953

Institutional Source

Beutler Lab

Gene Symbol

Emc9

Ensembl Gene

ENSMUSG00000022217

Gene Name

ER membrane protein complex subunit 9

Synonyms

Cgi112, Fam158a, 1500005A01Rik

MMRRC Submission

038849-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R0664 (G1)

Quality Score

132

Status

Validated

Chromosome

Chromosomal Location

55818973-55822759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55819365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 138 (L138P)

Ref Sequence

ENSEMBL: ENSMUSP00000022828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022826] [ENSMUST00000022828] [ENSMUST00000089619] [ENSMUST00000172738] [ENSMUST00000174259] [ENSMUST00000174563] [ENSMUST00000174484]

AlphaFold

Q9DB76

Predicted Effect

probably benign
Transcript: ENSMUST00000022826

SMART Domains

Protein: ENSMUSP00000022826
Gene: ENSMUSG00000022215

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	58	80	N/A	INTRINSIC
transmembrane domain	95	114	N/A	INTRINSIC
low complexity region	127	141	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
transmembrane domain	221	243	N/A	INTRINSIC
transmembrane domain	250	272	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022828
AA Change: L138P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022828
Gene: ENSMUSG00000022217
AA Change: L138P

Domain	Start	End	E-Value	Type
Pfam:UPF0172	3	191	1.9e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089619

SMART Domains

Protein: ENSMUSP00000087046
Gene: ENSMUSG00000022216

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	69	4.1e-29	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	100	236	2.4e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172738

SMART Domains

Protein: ENSMUSP00000133867
Gene: ENSMUSG00000022216

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	69	3.8e-29	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	129	226	3.2e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174791

Predicted Effect

probably benign
Transcript: ENSMUST00000174419

Predicted Effect

probably benign
Transcript: ENSMUST00000174259

SMART Domains

Protein: ENSMUSP00000134735
Gene: ENSMUSG00000022216

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	8	68	6e-27	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	103	247	9.5e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174563

SMART Domains

Protein: ENSMUSP00000133366
Gene: ENSMUSG00000022216

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	58	7.5e-18	PFAM
low complexity region	59	87	N/A	INTRINSIC
Pfam:PA28_beta	89	173	5.4e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228834

Predicted Effect

probably benign
Transcript: ENSMUST00000174352

SMART Domains

Protein: ENSMUSP00000133463
Gene: ENSMUSG00000022217

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	43	6.3e-11	PFAM
Pfam:UPF0172	41	82	1.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174484

SMART Domains

Protein: ENSMUSP00000133883
Gene: ENSMUSG00000022216

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	69	4.4e-29	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	100	238	7.7e-67	PFAM

Meta Mutation Damage Score

0.0819

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
A530064D06Rik	T	C	17: 48,473,759 (GRCm39)	I53V	probably benign	Het
Abtb3	G	A	10: 85,224,234 (GRCm39)	A348T	possibly damaging	Het
Agmo	A	T	12: 37,302,571 (GRCm39)	H136L	probably damaging	Het
B020004C17Rik	G	A	14: 57,254,225 (GRCm39)	R116H	possibly damaging	Het
Cacna1b	A	G	2: 24,544,458 (GRCm39)	S1243P	probably damaging	Het
Champ1	G	A	8: 13,929,485 (GRCm39)	V548M	probably damaging	Het
Dnah7b	A	T	1: 46,364,002 (GRCm39)	M3541L	probably damaging	Het
Epcam	T	A	17: 87,947,398 (GRCm39)	Y51N	possibly damaging	Het
Gpr55	A	T	1: 85,868,739 (GRCm39)	S281T	probably benign	Het
Grid2ip	T	A	5: 143,349,732 (GRCm39)		probably null	Het
Hgfac	G	T	5: 35,205,522 (GRCm39)	V601F	probably benign	Het
Hlcs	A	G	16: 94,032,170 (GRCm39)	W545R	probably damaging	Het
Hsd17b2	T	C	8: 118,485,440 (GRCm39)	V301A	possibly damaging	Het
Ipo8	A	T	6: 148,701,711 (GRCm39)	L466I	probably benign	Het
Jcad	A	G	18: 4,676,063 (GRCm39)	D1275G	probably damaging	Het
Mdn1	G	T	4: 32,768,011 (GRCm39)	E5315*	probably null	Het
Nfam1	T	C	15: 82,899,139 (GRCm39)	T176A	probably damaging	Het
Nsd3	T	C	8: 26,204,267 (GRCm39)	F432S	probably damaging	Het
Or4c31	C	T	2: 88,292,515 (GRCm39)	P296L	probably damaging	Het
Prmt5	G	T	14: 54,745,313 (GRCm39)	T618K	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Serpinb7	A	G	1: 107,356,037 (GRCm39)	D20G	probably damaging	Het
Slco1a4	T	C	6: 141,758,467 (GRCm39)	I515V	probably benign	Het
Stk26	T	A	X: 49,976,803 (GRCm39)	Y283*	probably null	Het
Tanc1	A	T	2: 59,674,228 (GRCm39)	K1778*	probably null	Het
Thada	A	G	17: 84,644,257 (GRCm39)	L1288P	probably damaging	Het
Ttbk2	C	A	2: 120,579,302 (GRCm39)	V607F	probably damaging	Het

Other mutations in Emc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Emc9	APN	14	55,822,377 (GRCm39)	missense	possibly damaging	0.93
IGL03395:Emc9	APN	14	55,822,197 (GRCm39)	missense	probably benign	0.03
R5907:Emc9	UTSW	14	55,819,569 (GRCm39)	splice site	probably null
R6898:Emc9	UTSW	14	55,822,367 (GRCm39)	critical splice donor site	probably null
R8305:Emc9	UTSW	14	55,822,556 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGTCCTGCCGAATGTCATCAAG -3'
(R):5'- GTTTCCCACAGCATTGAAGCATCC -3'

Sequencing Primer
(F):5'- TCCACAAGATGCTGGTGAGC -3'
(R):5'- CTGGCCTTGAAAATCGCTG -3'

Posted On

2013-07-30