Mutagenetix > Incidental Mutation

Incidental Mutation 'R2019:Ermard'

223705

Institutional Source

Beutler Lab

Gene Symbol

Ermard

Ensembl Gene

ENSMUSG00000036552

Gene Name

ER membrane associated RNA degradation

Synonyms

2210404J11Rik, 2410011O22Rik

MMRRC Submission

040028-MU

Accession Numbers

Essential gene?

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

Stock #

R2019 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15261813-15310307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15273527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 371 (R371C)

Ref Sequence

ENSEMBL: ENSMUSP00000095005 (fasta)

Gene Model

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

AlphaFold

E9Q048

Predicted Effect

probably benign
Transcript: ENSMUST00000040594

SMART Domains

Protein: ENSMUSP00000043677
Gene: ENSMUSG00000036552

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097393
AA Change: R371C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095005
Gene: ENSMUSG00000036552
AA Change: R371C

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: ENSMUST00000226384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227177

Predicted Effect

probably benign
Transcript: ENSMUST00000227252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231568

Predicted Effect

probably benign
Transcript: ENSMUST00000228803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231241

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,293,899 (GRCm39)	F252L	possibly damaging	Het
Abcc9	G	A	6: 142,621,160 (GRCm39)	L527F	probably damaging	Het
Abi3bp	A	G	16: 56,498,159 (GRCm39)	T918A	probably damaging	Het
Acp3	C	T	9: 104,201,901 (GRCm39)	G81R	probably damaging	Het
Acss3	C	T	10: 106,772,068 (GRCm39)	S669N	probably benign	Het
Akt1	T	C	12: 112,626,059 (GRCm39)	N71S	probably damaging	Het
Amz1	G	T	5: 140,737,719 (GRCm39)	M326I	probably benign	Het
Ankrd36	A	G	11: 5,639,140 (GRCm39)	I1351V	probably benign	Het
Art2b	T	C	7: 101,229,194 (GRCm39)	D235G	probably benign	Het
Ccdc141	A	C	2: 76,841,909 (GRCm39)	I1507M	probably damaging	Het
Dck	A	G	5: 88,921,943 (GRCm39)	Y135C	probably damaging	Het
Dmbt1	T	G	7: 130,712,718 (GRCm39)	I1563S	possibly damaging	Het
Dnttip2	T	C	3: 122,074,393 (GRCm39)	V610A	possibly damaging	Het
Efhb	A	G	17: 53,708,505 (GRCm39)	S722P	probably damaging	Het
Emx2	A	G	19: 59,447,771 (GRCm39)	S42G	probably benign	Het
Fat1	T	G	8: 45,476,783 (GRCm39)	I1943S	probably damaging	Het
Fignl1	T	C	11: 11,752,054 (GRCm39)	K334E	probably damaging	Het
Fmn1	A	C	2: 113,194,825 (GRCm39)	K175T	unknown	Het
Gm7247	A	T	14: 51,602,804 (GRCm39)	M47L	possibly damaging	Het
Gpalpp1	A	T	14: 76,348,131 (GRCm39)		probably null	Het
Hc	A	C	2: 34,903,540 (GRCm39)	F1038C	probably damaging	Het
Ifngr1	A	T	10: 19,467,861 (GRCm39)	M10L	probably damaging	Het
Irx5	T	G	8: 93,084,992 (GRCm39)	Y61D	probably damaging	Het
Itgax	A	G	7: 127,747,698 (GRCm39)	H1038R	probably benign	Het
Jag1	C	T	2: 136,926,599 (GRCm39)	E982K	probably benign	Het
Klhdc9	T	C	1: 171,186,509 (GRCm39)	D309G	probably damaging	Het
Lamp3	A	T	16: 19,519,961 (GRCm39)	M74K	probably benign	Het
Lrpprc	A	T	17: 85,059,759 (GRCm39)	L685Q	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Mgat5b	A	G	11: 116,838,174 (GRCm39)	Y271C	probably benign	Het
Mtmr6	T	C	14: 60,536,441 (GRCm39)	M557T	probably benign	Het
Myo16	T	C	8: 10,426,260 (GRCm39)	L339P	probably benign	Het
Neb	G	T	2: 52,122,288 (GRCm39)	Y580*	probably null	Het
Npat	A	G	9: 53,473,791 (GRCm39)	K528E	probably benign	Het
Or1j4	A	T	2: 36,740,418 (GRCm39)	Y120F	possibly damaging	Het
Or4a72	A	G	2: 89,405,737 (GRCm39)	V111A	probably damaging	Het
Or5m3	A	T	2: 85,838,567 (GRCm39)	Y149F	probably damaging	Het
Parp8	G	A	13: 117,004,968 (GRCm39)		probably benign	Het
Phf3	G	A	1: 30,850,928 (GRCm39)	T1142M	probably damaging	Het
Phospho1	G	A	11: 95,721,932 (GRCm39)	V201M	probably damaging	Het
Piezo1	A	G	8: 123,209,451 (GRCm39)	F2371L	probably benign	Het
Pitpnm1	T	C	19: 4,163,641 (GRCm39)	S1209P	probably damaging	Het
Pkd1	T	A	17: 24,787,658 (GRCm39)	C20*	probably null	Het
Prdm5	C	A	6: 65,808,340 (GRCm39)	N95K	probably damaging	Het
Prkx	T	C	X: 76,809,010 (GRCm39)	D270G	probably damaging	Het
Ptgis	A	G	2: 167,050,199 (GRCm39)	V310A	probably damaging	Het
Ptgis	G	A	2: 167,056,730 (GRCm39)	Q286*	probably null	Het
Rpf1	T	A	3: 146,226,976 (GRCm39)	N59I	probably damaging	Het
Rpl3l	A	C	17: 24,954,490 (GRCm39)		probably benign	Het
Ryr2	C	T	13: 11,866,074 (GRCm39)	G292D	possibly damaging	Het
Ryr3	G	T	2: 112,611,410 (GRCm39)	N2257K	probably benign	Het
Sla	T	C	15: 66,654,404 (GRCm39)	Y278C	probably damaging	Het
Slc4a10	A	T	2: 62,064,725 (GRCm39)	D193V	probably damaging	Het
Spire2	T	C	8: 124,059,657 (GRCm39)	C52R	probably damaging	Het
Tada2b	T	C	5: 36,641,250 (GRCm39)	Y51C	probably damaging	Het
Tarbp1	C	T	8: 127,154,853 (GRCm39)	V1424I	probably damaging	Het
Tbpl1	T	A	10: 22,583,576 (GRCm39)	E131D	probably damaging	Het
Tgfbrap1	A	G	1: 43,093,677 (GRCm39)		probably null	Het
Tmem116	A	G	5: 121,627,317 (GRCm39)	I151M	possibly damaging	Het
Tmem30a	T	C	9: 79,681,500 (GRCm39)	D223G	probably damaging	Het
Trim13	T	A	14: 61,842,335 (GRCm39)	C117*	probably null	Het
Ttn	C	G	2: 76,585,676 (GRCm39)	D21987H	probably damaging	Het
Txnrd1	G	A	10: 82,713,207 (GRCm39)	V90I	probably benign	Het
Unc79	G	A	12: 103,137,830 (GRCm39)		probably null	Het
Upp1	A	T	11: 9,083,240 (GRCm39)	M111L	possibly damaging	Het
Vmn2r79	G	T	7: 86,651,634 (GRCm39)	L344F	probably benign	Het
Vps39	T	C	2: 120,173,708 (GRCm39)	Y147C	probably damaging	Het
Wdr59	A	G	8: 112,193,425 (GRCm39)	Y666H	probably damaging	Het
Wdr95	A	G	5: 149,497,613 (GRCm39)		probably benign	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
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
R9792:Ermard	UTSW	17	15,281,441 (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'- ACTACAGTTCCAGCTGCAGG -3'
(R):5'- AATAAGACATGCTCTTCCCTTGCTG -3'

Sequencing Primer
(F):5'- GTGAGTGCCCTCTTTGAGAC -3'
(R):5'- GGTGGTAGTACATTCCGCC -3'

Posted On

2014-08-25