Mutagenetix > Incidental Mutation

Incidental Mutation 'R1699:Erich1'

192520

Institutional Source

Beutler Lab

Gene Symbol

Erich1

Ensembl Gene

ENSMUSG00000051978

Gene Name

glutamate rich 1

Synonyms

MMRRC Submission

039732-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1699 (G1)

Quality Score

188

Status

Not validated

Chromosome

Chromosomal Location

14027561-14090301 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14090259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 2 (S2T)

Ref Sequence

ENSEMBL: ENSMUSP00000147614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110813] [ENSMUST00000211242]

AlphaFold

E9PY43

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098916

SMART Domains

Protein: ENSMUSP00000096516
Gene: ENSMUSG00000074461

Domain	Start	End	E-Value	Type
low complexity region	50	63	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110813
AA Change: S2T

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106436
Gene: ENSMUSG00000051978
AA Change: S2T

Domain	Start	End	E-Value	Type
low complexity region	110	121	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	188	209	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211242
AA Change: S2T

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	G	5: 30,483,866 (GRCm38)		probably null	Het
Abca2	A	G	2: 25,447,351 (GRCm38)	E2406G	possibly damaging	Het
Adam6b	T	A	12: 113,490,585 (GRCm38)	F341I	probably benign	Het
Adam8	A	T	7: 139,983,311 (GRCm38)	N767K	possibly damaging	Het
AI481877	T	C	4: 59,113,926 (GRCm38)	K13R	unknown	Het
Aig1	T	C	10: 13,868,622 (GRCm38)	D46G	possibly damaging	Het
Alms1	A	G	6: 85,622,880 (GRCm38)	I2032V	possibly damaging	Het
Ankrd16	A	G	2: 11,784,393 (GRCm38)	I264V	probably benign	Het
Areg	T	G	5: 91,143,498 (GRCm38)	V100G	probably damaging	Het
Bcan	A	G	3: 87,989,236 (GRCm38)	Y718H	probably damaging	Het
Brsk2	T	A	7: 141,985,463 (GRCm38)	I188N	probably damaging	Het
Ccdc189	A	T	7: 127,586,856 (GRCm38)		probably null	Het
Cdt1	T	C	8: 122,569,983 (GRCm38)	Y203H	probably damaging	Het
Chil3	A	C	3: 106,160,366 (GRCm38)		probably null	Het
Cth	A	G	3: 157,907,436 (GRCm38)	L253P	probably damaging	Het
Cyp11b1	A	G	15: 74,840,817 (GRCm38)	F132L	possibly damaging	Het
Dab1	C	T	4: 104,731,751 (GRCm38)	A524V	probably benign	Het
Dnah11	A	G	12: 118,190,868 (GRCm38)	S226P	probably damaging	Het
Egfr	A	T	11: 16,859,019 (GRCm38)	Q71L	probably benign	Het
Eml6	T	A	11: 29,746,282 (GRCm38)	K1940*	probably null	Het
Epn2	T	A	11: 61,523,188 (GRCm38)	K391*	probably null	Het
Evi5	A	C	5: 107,818,920 (GRCm38)	L245R	probably damaging	Het
Evpl	T	C	11: 116,227,588 (GRCm38)	Y731C	probably damaging	Het
Exoc3l	G	A	8: 105,295,013 (GRCm38)	H128Y	probably benign	Het
Extl1	G	A	4: 134,364,583 (GRCm38)	Q320*	probably null	Het
Fam71a	T	A	1: 191,163,821 (GRCm38)	E208D	probably benign	Het
Fam91a1	T	A	15: 58,432,948 (GRCm38)	S416T	probably benign	Het
Fam96b	A	G	8: 104,640,086 (GRCm38)	V132A	probably damaging	Het
Fat3	A	T	9: 15,938,398 (GRCm38)	S3903T	probably damaging	Het
Fer1l4	A	G	2: 156,029,685 (GRCm38)	F1392L	probably benign	Het
Fstl4	T	C	11: 53,168,178 (GRCm38)	I488T	possibly damaging	Het
Gak	A	T	5: 108,604,377 (GRCm38)	Y338*	probably null	Het
Glp2r	T	C	11: 67,757,541 (GRCm38)	T112A	probably benign	Het
Glrb	G	A	3: 80,861,774 (GRCm38)	T180I	probably damaging	Het
Gm10118	C	T	10: 63,926,892 (GRCm38)		probably benign	Het
Gpr19	A	T	6: 134,870,229 (GRCm38)	F72I	possibly damaging	Het
Grin3b	C	A	10: 79,975,882 (GRCm38)	N740K	probably damaging	Het
Gstk1	A	T	6: 42,246,601 (GRCm38)	T42S	probably benign	Het
Hoxd1	G	A	2: 74,764,282 (GRCm38)	A294T	probably benign	Het
Hspg2	T	A	4: 137,548,012 (GRCm38)		probably null	Het
Ift74	A	T	4: 94,685,703 (GRCm38)	N472I	probably benign	Het
Il1a	C	T	2: 129,302,893 (GRCm38)	D202N	probably damaging	Het
Islr	T	C	9: 58,157,495 (GRCm38)	D243G	probably damaging	Het
Kif21a	C	T	15: 90,959,743 (GRCm38)	E1098K	probably damaging	Het
Krtap16-1	T	C	11: 99,986,026 (GRCm38)	E184G	probably damaging	Het
Lrp1b	A	G	2: 41,185,962 (GRCm38)	I1889T	possibly damaging	Het
Mcpt4	A	G	14: 56,059,959 (GRCm38)	*247Q	probably null	Het
Megf10	T	C	18: 57,277,730 (GRCm38)		probably null	Het
Mettl2	T	A	11: 105,139,718 (GRCm38)	H373Q	probably benign	Het
Mocos	A	G	18: 24,683,216 (GRCm38)	K617E	probably damaging	Het
Ms4a8a	A	G	19: 11,076,397 (GRCm38)	I115T	probably damaging	Het
Ndst1	T	C	18: 60,695,508 (GRCm38)	Y658C	probably damaging	Het
Nin	C	A	12: 70,045,563 (GRCm38)	K657N	possibly damaging	Het
Nin	G	A	12: 70,030,938 (GRCm38)	A1031V	probably benign	Het
Noc4l	G	A	5: 110,649,847 (GRCm38)	R344*	probably null	Het
Notch2	T	C	3: 98,145,127 (GRCm38)	S1980P	probably damaging	Het
Npat	C	T	9: 53,562,660 (GRCm38)	S584L	probably benign	Het
Nphp4	A	G	4: 152,496,664 (GRCm38)	T102A	probably damaging	Het
Olfml2b	A	G	1: 170,645,073 (GRCm38)	N51S	possibly damaging	Het
Olfr1042	T	C	2: 86,159,936 (GRCm38)	I145V	probably benign	Het
Olfr138	A	G	17: 38,275,041 (GRCm38)	K90R	probably benign	Het
Olfr1388	T	A	11: 49,444,289 (GRCm38)	I146N	possibly damaging	Het
Olfr153	A	G	2: 87,532,083 (GRCm38)	T17A	probably benign	Het
Pced1b	T	A	15: 97,384,877 (GRCm38)	W266R	probably damaging	Het
Pdcd6ip	A	G	9: 113,678,354 (GRCm38)	V378A	probably damaging	Het
Pde8b	T	A	13: 95,032,866 (GRCm38)	K683N	probably damaging	Het
Pfas	T	G	11: 68,998,046 (GRCm38)		probably null	Het
Pirb	A	T	7: 3,717,638 (GRCm38)	L287Q	probably benign	Het
Plcd4	T	G	1: 74,548,235 (GRCm38)	S51R	probably benign	Het
Plekhh2	T	A	17: 84,577,184 (GRCm38)	Y775*	probably null	Het
Polr3a	G	A	14: 24,484,164 (GRCm38)	P91L	probably damaging	Het
Ppp4r3b	C	T	11: 29,213,765 (GRCm38)	T47I	possibly damaging	Het
Pter	A	T	2: 12,994,761 (GRCm38)	D169V	probably damaging	Het
Ptpn12	A	G	5: 20,998,170 (GRCm38)	S537P	probably benign	Het
Ptpru	T	A	4: 131,779,050 (GRCm38)	D1067V	probably damaging	Het
Rcn1	A	T	2: 105,399,005 (GRCm38)	D67E	probably damaging	Het
Rfc4	T	C	16: 23,114,233 (GRCm38)	E318G	probably benign	Het
Samd13	C	A	3: 146,662,714 (GRCm38)	R41L	probably benign	Het
Slc6a2	T	C	8: 92,972,812 (GRCm38)	I156T	possibly damaging	Het
Spag16	T	C	1: 69,996,856 (GRCm38)	F348L	probably benign	Het
Spag4	T	C	2: 156,065,422 (GRCm38)	Y21H	probably damaging	Het
Stam2	G	A	2: 52,703,175 (GRCm38)	A368V	possibly damaging	Het
Stc1	A	T	14: 69,038,327 (GRCm38)	M190L	probably benign	Het
Stxbp1	A	G	2: 32,800,617 (GRCm38)	L475P	probably damaging	Het
Syn3	A	T	10: 86,080,211 (GRCm38)	Y304N	probably damaging	Het
Tbc1d15	G	T	10: 115,220,314 (GRCm38)	T251K	probably benign	Het
Tbpl2	A	T	2: 24,095,045 (GRCm38)	M29K	probably benign	Het
Tead3	T	G	17: 28,334,724 (GRCm38)	Q170H	possibly damaging	Het
Tpbpb	T	C	13: 60,902,163 (GRCm38)	N51D	probably benign	Het
Tstd3	A	G	4: 21,759,400 (GRCm38)	M124T	probably benign	Het
Ttyh1	T	A	7: 4,119,696 (GRCm38)	H14Q	possibly damaging	Het
Tubgcp4	G	A	2: 121,189,893 (GRCm38)	W449*	probably null	Het
Txndc11	A	G	16: 11,087,775 (GRCm38)		probably null	Het
Usp24	T	A	4: 106,438,827 (GRCm38)	D2615E	probably damaging	Het
Vars	A	G	17: 35,014,758 (GRCm38)	E1020G	possibly damaging	Het
Vmn2r58	A	G	7: 41,860,527 (GRCm38)	I542T	probably benign	Het
Vwf	A	G	6: 125,643,069 (GRCm38)	Y1570C	probably damaging	Het
Vwf	A	T	6: 125,685,900 (GRCm38)	Y2749F	possibly damaging	Het
Zfand1	A	C	3: 10,341,055 (GRCm38)	V198G	possibly damaging	Het
Zfp536	G	A	7: 37,569,454 (GRCm38)	T179I	probably damaging	Het
Zfp599	T	C	9: 22,250,404 (GRCm38)	Y155C	probably benign	Het

Other mutations in Erich1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Erich1	APN	8	14,033,770 (GRCm38)	splice site	probably benign
IGL00927:Erich1	APN	8	14,033,518 (GRCm38)	missense	probably damaging	1.00
IGL01448:Erich1	APN	8	14,078,853 (GRCm38)	missense	possibly damaging	0.95
R1165:Erich1	UTSW	8	14,090,530 (GRCm38)	unclassified	probably benign
R1541:Erich1	UTSW	8	14,030,688 (GRCm38)	missense	probably damaging	0.97
R2094:Erich1	UTSW	8	14,090,527 (GRCm38)	unclassified	probably benign
R2153:Erich1	UTSW	8	14,078,773 (GRCm38)	missense	probably benign	0.08
R3807:Erich1	UTSW	8	14,033,695 (GRCm38)	missense	probably benign	0.11
R5787:Erich1	UTSW	8	14,033,776 (GRCm38)	splice site	probably null
R6119:Erich1	UTSW	8	14,033,692 (GRCm38)	missense	probably benign
R7034:Erich1	UTSW	8	14,064,330 (GRCm38)	missense	probably benign	0.02
R7363:Erich1	UTSW	8	14,033,688 (GRCm38)	missense	probably benign	0.05
R7687:Erich1	UTSW	8	14,030,691 (GRCm38)	missense	probably damaging	0.99
R9087:Erich1	UTSW	8	14,033,623 (GRCm38)	missense	probably damaging	0.99
R9376:Erich1	UTSW	8	14,030,719 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAGAAGATCCCAGAGTCCGGTG -3'
(R):5'- TCCAAGTTCCGCAAGTGTGCAG -3'

Sequencing Primer
(F):5'- CTAAAAGCTGCGACAGCG -3'
(R):5'- AGCTTTCAGGCCGTCTGC -3'

Posted On

2014-05-14