Mutagenetix > Incidental Mutation

Incidental Mutation 'R6898:Emc9'

538470

Institutional Source

Beutler Lab

Gene Symbol

Emc9

Ensembl Gene

ENSMUSG00000022217

Gene Name

ER membrane protein complex subunit 9

Synonyms

Cgi112, Fam158a, 1500005A01Rik

MMRRC Submission

044992-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R6898 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55818973-55822759 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 55822367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9DB76

Predicted Effect

probably null
Transcript: ENSMUST00000022828

SMART Domains

Protein: ENSMUSP00000022828
Gene: ENSMUSG00000022217

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

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

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

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 null
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: ENSMUST00000174419

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

Meta Mutation Damage Score

0.9504

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd7	G	T	6: 18,868,100 (GRCm39)		probably null	Het
Aoc1l2	A	T	6: 48,907,975 (GRCm39)	Y325F	probably damaging	Het
Aplnr	A	T	2: 84,970,155 (GRCm39)		probably benign	Het
Capns2	T	C	8: 93,628,605 (GRCm39)	S165P	probably damaging	Het
Col25a1	T	C	3: 130,378,377 (GRCm39)		probably null	Het
Crocc2	T	C	1: 93,143,304 (GRCm39)	V1302A	probably benign	Het
Cul9	C	A	17: 46,821,952 (GRCm39)	R1841M	possibly damaging	Het
Dnhd1	T	C	7: 105,336,584 (GRCm39)	L1213P	probably damaging	Het
Dscam	A	T	16: 96,631,100 (GRCm39)	I305K	probably benign	Het
Dsp	A	G	13: 38,376,193 (GRCm39)	E1326G	possibly damaging	Het
Eif4a3l1	T	A	6: 136,305,617 (GRCm39)	V26E	probably benign	Het
Eppk1	A	C	15: 75,996,126 (GRCm39)	S252A	probably benign	Het
Fn1	T	A	1: 71,639,572 (GRCm39)	T1830S	probably damaging	Het
Fryl	A	T	5: 73,179,485 (GRCm39)	M2974K	probably damaging	Het
Gdpd3	C	A	7: 126,370,201 (GRCm39)	S250*	probably null	Het
Gnl3	A	T	14: 30,735,136 (GRCm39)	S485R	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hsd17b3	T	C	13: 64,207,339 (GRCm39)	Y234C	probably benign	Het
Lima1	T	C	15: 99,679,148 (GRCm39)	H271R	possibly damaging	Het
Nfu1	G	A	6: 86,994,034 (GRCm39)		probably null	Het
Noto	A	G	6: 85,404,942 (GRCm39)	E97G	probably damaging	Het
Ntng1	T	C	3: 109,779,534 (GRCm39)	K348E	probably damaging	Het
Or2y13	G	A	11: 49,414,536 (GRCm39)		probably benign	Het
Or4a70	C	T	2: 89,324,594 (GRCm39)	G21R	possibly damaging	Het
Osmr	C	A	15: 6,845,364 (GRCm39)	V801F	probably damaging	Het
Papln	A	G	12: 83,824,234 (GRCm39)	E554G	probably benign	Het
Pitrm1	T	C	13: 6,605,495 (GRCm39)	L175P	probably damaging	Het
Pramel22	A	T	4: 143,382,053 (GRCm39)	N214K	probably damaging	Het
Pramel7	T	C	2: 87,320,070 (GRCm39)	T408A	probably damaging	Het
Serinc2	A	T	4: 130,149,235 (GRCm39)	D322E	probably benign	Het
Setx	T	C	2: 29,038,120 (GRCm39)	V1535A	probably benign	Het
Sgce	A	T	6: 4,689,666 (GRCm39)	V389E	probably damaging	Het
Snx11	G	A	11: 96,659,888 (GRCm39)	T267I	probably benign	Het
Spata6l	T	G	19: 28,921,688 (GRCm39)	Q146P	probably benign	Het
Specc1	G	A	11: 62,009,162 (GRCm39)	S306N	probably benign	Het
Spocd1	A	G	4: 129,850,305 (GRCm39)		probably benign	Het
St7	T	A	6: 17,854,945 (GRCm39)	V294D	probably damaging	Het
Stab1	C	T	14: 30,880,920 (GRCm39)	R624Q	probably benign	Het
Tcf21	T	C	10: 22,695,403 (GRCm39)	I134V	probably benign	Het
Tgfb2	T	A	1: 186,364,697 (GRCm39)	I266F	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,365 (GRCm39)	I209M	possibly damaging	Het
Tmcc3	A	G	10: 94,387,034 (GRCm39)		probably null	Het
Toe1	A	G	4: 116,664,671 (GRCm39)	S16P	probably damaging	Het
Vps16	T	C	2: 130,279,601 (GRCm39)	V38A	possibly damaging	Het
Wnk2	G	T	13: 49,224,557 (GRCm39)	D1001E	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
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
R8305:Emc9	UTSW	14	55,822,556 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTGGTCATCCAAAACCGC -3'
(R):5'- TACGGGAAGATGTGTCTGCAC -3'

Sequencing Primer
(F):5'- ATTGGCATGGTAGTACCCAGCTAC -3'
(R):5'- TGCACGCCTCTCGGTAC -3'

Posted On

2018-11-06