Mutagenetix > Incidental Mutation

Incidental Mutation 'R9792:Ermard'

734714

Institutional Source

Beutler Lab

Gene Symbol

Ermard

Ensembl Gene

ENSMUSG00000036552

Gene Name

ER membrane associated RNA degradation

Synonyms

2210404J11Rik, 2410011O22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R9792 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15261813-15310307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15281441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 617 (L617P)

Ref Sequence

ENSEMBL: ENSMUSP00000095005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040594] [ENSMUST00000097393] [ENSMUST00000227252] [ENSMUST00000228803]

AlphaFold

E9Q048

Predicted Effect

probably damaging
Transcript: ENSMUST00000040594
AA Change: L169P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043677
Gene: ENSMUSG00000036552
AA Change: L169P

Domain	Start	End	E-Value	Type
transmembrane domain	130	152	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097393
AA Change: L617P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095005
Gene: ENSMUSG00000036552
AA Change: L617P

Domain	Start	End	E-Value	Type
Pfam:DUF4209	133	214	3.1e-27	PFAM
low complexity region	390	399	N/A	INTRINSIC
SCOP:g1pnb.1	429	478	4e-3	SMART
low complexity region	583	599	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000227252

Predicted Effect

probably damaging
Transcript: ENSMUST00000228803
AA Change: L206P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,719 (GRCm39)	D99G	unknown	Het
Add2	A	T	6: 86,078,135 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,874,822 (GRCm39)	D453G	possibly damaging	Het
Agrn	A	G	4: 156,261,129 (GRCm39)	V656A	probably benign	Het
Alpk3	T	C	7: 80,750,881 (GRCm39)		probably null	Het
Ano1	A	T	7: 144,175,434 (GRCm39)	W495R	probably damaging	Het
Apc	T	A	18: 34,447,628 (GRCm39)	L1508Q	probably damaging	Het
Bbs12	C	T	3: 37,374,224 (GRCm39)	T224I	possibly damaging	Het
Cald1	A	T	6: 34,723,071 (GRCm39)	M52L		Het
Calhm6	T	C	10: 34,002,544 (GRCm39)	I180V	probably damaging	Het
Ccdc9b	T	C	2: 118,587,784 (GRCm39)	S517G	unknown	Het
Cdk11b	T	A	4: 155,732,378 (GRCm39)	H510Q	unknown	Het
Cdk12	T	A	11: 98,102,051 (GRCm39)	D636E	unknown	Het
Cfap53	A	G	18: 74,438,741 (GRCm39)	D306G	probably benign	Het
Cnnm1	T	C	19: 43,482,252 (GRCm39)		probably null	Het
Cnrip1	G	A	11: 17,004,812 (GRCm39)	A121T	probably benign	Het
Cntnap5c	A	T	17: 58,409,192 (GRCm39)	T477S	probably benign	Het
Cyp2c54	G	C	19: 40,034,525 (GRCm39)	P382A	probably damaging	Het
Cyp4a30b	A	G	4: 115,316,167 (GRCm39)	T298A	probably benign	Het
Dmkn	A	T	7: 30,464,845 (GRCm39)	N273Y	unknown	Het
Dsp	A	G	13: 38,379,494 (GRCm39)	T2080A	possibly damaging	Het
Grik3	A	G	4: 125,526,315 (GRCm39)	T183A	probably damaging	Het
Gstt1	T	C	10: 75,634,391 (GRCm39)		probably benign	Het
Hao1	T	A	2: 134,372,552 (GRCm39)	Y152F	possibly damaging	Het
Hdac7	T	C	15: 97,698,671 (GRCm39)	T629A	possibly damaging	Het
Hmcn1	G	A	1: 150,608,689 (GRCm39)	P1498S	possibly damaging	Het
Iqcf3	T	A	9: 106,434,714 (GRCm39)	K41N	probably benign	Het
Lrriq3	T	C	3: 154,893,313 (GRCm39)	M338T	probably benign	Het
Ltbp2	A	T	12: 84,876,128 (GRCm39)	I493N	probably damaging	Het
Map1a	T	C	2: 121,121,304 (GRCm39)		probably null	Het
Mzf1	T	C	7: 12,786,131 (GRCm39)	T267A	probably benign	Het
N4bp2l2	A	G	5: 150,584,897 (GRCm39)	I19T	probably benign	Het
Ncoa2	G	T	1: 13,260,355 (GRCm39)	Q107K	possibly damaging	Het
Nin	A	T	12: 70,094,009 (GRCm39)	I605N		Het
Nr1h4	T	G	10: 89,314,651 (GRCm39)	T286P	probably benign	Het
Nsd2	A	G	5: 34,003,489 (GRCm39)	D213G	possibly damaging	Het
Nuggc	T	C	14: 65,847,345 (GRCm39)	S131P	probably damaging	Het
Or4a78	T	C	2: 89,497,811 (GRCm39)	I140V	probably benign	Het
Or4f14c	T	C	2: 111,941,330 (GRCm39)	H89R	probably benign	Het
Or52m1	G	A	7: 102,289,788 (GRCm39)	V112I	probably benign	Het
Or5b113	A	T	19: 13,342,514 (GRCm39)	H174L	probably damaging	Het
Or8h9	T	A	2: 86,789,119 (GRCm39)	I228F	probably damaging	Het
Otud7a	C	T	7: 63,378,845 (GRCm39)	R232W	probably damaging	Het
Pacsin3	C	A	2: 91,094,160 (GRCm39)	A363D	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Pcnx2	A	G	8: 126,534,820 (GRCm39)	F1270L	probably damaging	Het
Pds5a	T	C	5: 65,795,989 (GRCm39)	M634V	probably benign	Het
Pkd1	A	G	17: 24,800,172 (GRCm39)	T2978A	probably benign	Het
Pkhd1l1	T	C	15: 44,406,983 (GRCm39)	S2407P	probably benign	Het
Polr2i	T	C	7: 29,932,190 (GRCm39)	Y44H	probably damaging	Het
Ppip5k2	A	T	1: 97,671,822 (GRCm39)	Y489*	probably null	Het
Ppp3r1	C	A	11: 17,132,117 (GRCm39)	A5E	probably benign	Het
Pramel60	C	A	5: 95,339,810 (GRCm39)	H110N	probably damaging	Het
Rasgrp1	T	C	2: 117,118,429 (GRCm39)	D520G	probably benign	Het
Rex2	A	C	4: 147,142,039 (GRCm39)	N176H	probably damaging	Het
Rsl1d1	T	C	16: 11,017,300 (GRCm39)	N194S	possibly damaging	Het
Sidt2	A	G	9: 45,850,563 (GRCm39)	Y851H	probably damaging	Het
Slc5a8	T	C	10: 88,757,591 (GRCm39)	I527T	possibly damaging	Het
Slc6a7	C	A	18: 61,138,866 (GRCm39)	R214L	probably benign	Het
Stx7	T	C	10: 24,057,475 (GRCm39)	L167P	probably damaging	Het
Tas2r120	A	T	6: 132,634,528 (GRCm39)	K203N	possibly damaging	Het
Tbc1d22a	T	C	15: 86,119,839 (GRCm39)	L81P	probably damaging	Het
Tert	A	G	13: 73,792,442 (GRCm39)	E903G	probably benign	Het
Tpm4	A	G	8: 72,905,663 (GRCm39)	I248V	probably benign	Het
Trim42	A	G	9: 97,245,429 (GRCm39)	I457T	probably damaging	Het
Ttc23l	T	A	15: 10,537,731 (GRCm39)	I180F	probably benign	Het
Usp9y	T	C	Y: 1,364,679 (GRCm39)	M1045V	probably benign	Het
Vim	A	G	2: 13,579,598 (GRCm39)	D119G	probably benign	Het
Vmn1r82	A	T	7: 12,039,083 (GRCm39)	M119L	probably benign	Het
Vmn2r118	T	C	17: 55,899,496 (GRCm39)	T803A	probably damaging	Het
Vwa3a	C	A	7: 120,383,307 (GRCm39)	A636D	probably damaging	Het
Zbtb7a	G	A	10: 80,980,378 (GRCm39)	A191T	probably benign	Het
Zfp819	A	G	7: 43,261,519 (GRCm39)	H62R	possibly damaging	Het

Other mutations in Ermard

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Ermard	APN	17	15,208,328 (GRCm39)	splice site	probably benign
IGL01554:Ermard	APN	17	15,271,855 (GRCm39)	missense	possibly damaging	0.94
IGL01832:Ermard	APN	17	15,280,111 (GRCm39)	missense	probably damaging	0.98
IGL02045:Ermard	APN	17	15,271,826 (GRCm39)	unclassified	probably benign
IGL02332:Ermard	APN	17	15,210,807 (GRCm39)	critical splice acceptor site	probably null
IGL02525:Ermard	APN	17	15,279,601 (GRCm39)	splice site	probably benign
IGL03335:Ermard	APN	17	15,279,668 (GRCm39)	missense	probably damaging	1.00
Angelos	UTSW	17	15,280,032 (GRCm39)	missense	possibly damaging	0.73
Eminence	UTSW	17	15,273,467 (GRCm39)	splice site	probably null
R8203_ermard_787	UTSW	17	15,240,548 (GRCm39)	missense	possibly damaging	0.73
Rechthand	UTSW	17	15,279,596 (GRCm39)	splice site	probably benign
sanctus	UTSW	17	15,273,643 (GRCm39)	missense	probably benign	0.00
PIT4504001:Ermard	UTSW	17	15,279,084 (GRCm39)	nonsense	probably null
R0211:Ermard	UTSW	17	15,242,205 (GRCm39)	missense	probably damaging	0.99
R0211:Ermard	UTSW	17	15,242,205 (GRCm39)	missense	probably damaging	0.99
R0722:Ermard	UTSW	17	15,242,390 (GRCm39)	missense	probably benign	0.13
R0785:Ermard	UTSW	17	15,242,239 (GRCm39)	missense	probably damaging	1.00
R2019:Ermard	UTSW	17	15,273,527 (GRCm39)	missense	probably damaging	1.00
R3696:Ermard	UTSW	17	15,273,638 (GRCm39)	missense	probably benign	0.01
R3697:Ermard	UTSW	17	15,273,638 (GRCm39)	missense	probably benign	0.01
R4077:Ermard	UTSW	17	15,273,638 (GRCm39)	missense	probably benign	0.04
R4383:Ermard	UTSW	17	15,280,128 (GRCm39)	missense	possibly damaging	0.87
R5424:Ermard	UTSW	17	15,280,032 (GRCm39)	missense	possibly damaging	0.73
R6313:Ermard	UTSW	17	15,273,467 (GRCm39)	splice site	probably null
R7685:Ermard	UTSW	17	15,279,724 (GRCm39)	missense	probably benign	0.00
R7800:Ermard	UTSW	17	15,277,065 (GRCm39)	missense	probably benign	0.01
R7802:Ermard	UTSW	17	15,281,423 (GRCm39)	missense	probably benign
R7895:Ermard	UTSW	17	15,283,875 (GRCm39)	missense	possibly damaging	0.66
R8203:Ermard	UTSW	17	15,240,548 (GRCm39)	missense	possibly damaging	0.73
R8229:Ermard	UTSW	17	15,279,596 (GRCm39)	splice site	probably benign
R8318:Ermard	UTSW	17	15,242,334 (GRCm39)	missense	possibly damaging	0.86
R8369:Ermard	UTSW	17	15,273,560 (GRCm39)	missense	probably damaging	0.99
R9179:Ermard	UTSW	17	15,273,495 (GRCm39)	missense	probably damaging	1.00
R9329:Ermard	UTSW	17	15,273,643 (GRCm39)	missense	probably benign	0.00
R9449:Ermard	UTSW	17	15,273,554 (GRCm39)	missense	possibly damaging	0.95
R9506:Ermard	UTSW	17	15,281,368 (GRCm39)	missense	probably damaging	1.00
R9793:Ermard	UTSW	17	15,281,441 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTTATGAAAACGGAAAGGAC -3'
(R):5'- GTAGCCTGGCAAGCTGAGAG -3'

Sequencing Primer
(F):5'- CGGAAAGGACTTTGTCAAAACCTTG -3'
(R):5'- CAAGAGGAGTCAAATGCC -3'

Posted On

2022-11-14