Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00826:Emc9'

10641

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emc9

Ensembl Gene

ENSMUSG00000022217

Gene Name

ER membrane protein complex subunit 9

Synonyms

Cgi112, Fam158a, 1500005A01Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00826

Quality Score

Status

Chromosome

Chromosomal Location

55818973-55822759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55822377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 64 (L64I)

Ref Sequence

ENSEMBL: ENSMUSP00000022828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022828] [ENSMUST00000089619] [ENSMUST00000111378] [ENSMUST00000159687] [ENSMUST00000174259] [ENSMUST00000161807] [ENSMUST00000172738] [ENSMUST00000174484] [ENSMUST00000174563]

AlphaFold

Q9DB76

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022828
AA Change: L64I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022828
Gene: ENSMUSG00000022217
AA Change: L64I

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: ENSMUST00000111378

SMART Domains

Protein: ENSMUSP00000107009
Gene: ENSMUSG00000079197

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	1	64	2.2e-26	PFAM
Pfam:PA28_beta	82	231	1.7e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159282

Predicted Effect

probably benign
Transcript: ENSMUST00000159687

SMART Domains

Protein: ENSMUSP00000125596
Gene: ENSMUSG00000079197

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	1	64	1.2e-26	PFAM
Pfam:PA28_beta	82	165	3e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161027

Predicted Effect

unknown
Transcript: ENSMUST00000174352
AA Change: L9I

SMART Domains

Protein: ENSMUSP00000133463
Gene: ENSMUSG00000022217
AA Change: L9I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174148

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: ENSMUST00000174419

Predicted Effect

probably benign
Transcript: ENSMUST00000161807

SMART Domains

Protein: ENSMUSP00000123798
Gene: ENSMUSG00000079197

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	11	71	1.2e-26	PFAM
Pfam:PA28_beta	93	237	5.3e-58	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: ENSMUST00000174618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174791

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	G	8: 111,766,932 (GRCm39)	S105A	probably damaging	Het
Adamtsl1	C	T	4: 86,075,041 (GRCm39)	P136L	probably damaging	Het
Akap13	C	A	7: 75,327,195 (GRCm39)	N376K	probably damaging	Het
Casp2	T	A	6: 42,246,219 (GRCm39)	Y192*	probably null	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cyp2c68	A	G	19: 39,727,949 (GRCm39)	Y68H	possibly damaging	Het
Cyp2j9	A	T	4: 96,474,167 (GRCm39)	I91K	possibly damaging	Het
Diablo	T	C	5: 123,650,751 (GRCm39)	I179M	probably benign	Het
Dnah9	C	T	11: 65,880,768 (GRCm39)	V2610M	probably damaging	Het
Dsc2	C	T	18: 20,168,372 (GRCm39)	A696T	probably damaging	Het
Eaf2	A	T	16: 36,621,038 (GRCm39)	M218K	probably benign	Het
Epb41l2	T	C	10: 25,317,620 (GRCm39)	S46P	probably benign	Het
Galnt7	A	T	8: 57,993,105 (GRCm39)	Y405*	probably null	Het
Gnl3	A	G	14: 30,734,753 (GRCm39)		probably benign	Het
Map1a	A	G	2: 121,132,757 (GRCm39)	Q1191R	possibly damaging	Het
Map2k2	G	A	10: 80,954,052 (GRCm39)	V173I	probably benign	Het
Nbeal2	A	G	9: 110,455,971 (GRCm39)	V2408A	probably benign	Het
Npepps	T	C	11: 97,126,884 (GRCm39)		probably benign	Het
Osbpl8	A	T	10: 111,108,181 (GRCm39)		probably benign	Het
Phf12	G	T	11: 77,906,332 (GRCm39)	R282L	probably damaging	Het
Phf21a	T	G	2: 92,174,881 (GRCm39)		probably benign	Het
Plin2	T	C	4: 86,582,683 (GRCm39)	N98D	possibly damaging	Het
Prl7a1	A	G	13: 27,824,778 (GRCm39)	V19A	probably damaging	Het
Slfn10-ps	T	C	11: 82,926,085 (GRCm39)		noncoding transcript	Het
Spag11b	T	G	8: 19,191,423 (GRCm39)	V33G	possibly damaging	Het
Trappc13	A	T	13: 104,281,016 (GRCm39)	S349T	probably benign	Het
Trim34a	T	C	7: 103,910,140 (GRCm39)		probably null	Het

Other mutations in Emc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03395:Emc9	APN	14	55,822,197 (GRCm39)	missense	probably benign	0.03
R0664:Emc9	UTSW	14	55,819,365 (GRCm39)	missense	possibly damaging	0.93
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

Posted On

2012-12-06