Mutagenetix > Incidental Mutation

Incidental Mutation 'R3807:Erich1'

274977

Institutional Source

Beutler Lab

Gene Symbol

Erich1

Ensembl Gene

ENSMUSG00000051978

Gene Name

glutamate rich 1

Synonyms

MMRRC Submission

040764-MU

Accession Numbers

Essential gene?

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

Stock #

R3807 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14027561-14090301 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14033695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 125 (N125S)

Ref Sequence

ENSEMBL: ENSMUSP00000106436 (fasta)

Gene Model

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

AlphaFold

E9PY43

Predicted Effect

probably benign
Transcript: ENSMUST00000110813
AA Change: N125S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106436
Gene: ENSMUSG00000051978
AA Change: N125S

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

probably benign
Transcript: ENSMUST00000211242

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	T	8: 111,990,370 (GRCm38)	W2R	probably damaging	Het
Arhgap42	A	G	9: 9,008,033 (GRCm38)	I563T	probably damaging	Het
Armcx1	T	C	X: 134,721,265 (GRCm38)	V372A	probably damaging	Het
Bicd1	T	A	6: 149,518,991 (GRCm38)	L780M	probably damaging	Het
Bpifb1	C	A	2: 154,214,002 (GRCm38)	N329K	probably benign	Het
Ccdc113	A	T	8: 95,542,653 (GRCm38)	N193I	probably damaging	Het
Cebpz	A	T	17: 78,935,418 (GRCm38)	L269Q	probably damaging	Het
Cttn	C	T	7: 144,445,851 (GRCm38)	V290M	probably damaging	Het
Ctu1	T	C	7: 43,676,673 (GRCm38)	L252P	probably damaging	Het
Dmbt1	T	A	7: 131,112,090 (GRCm38)	M1455K	possibly damaging	Het
Eme1	A	G	11: 94,650,592 (GRCm38)	W135R	probably damaging	Het
Entpd7	T	G	19: 43,725,540 (GRCm38)		probably null	Het
Eri2	A	T	7: 119,786,008 (GRCm38)	C423*	probably null	Het
Fam149a	T	A	8: 45,381,610 (GRCm38)	T51S	possibly damaging	Het
Fam71b	G	A	11: 46,404,953 (GRCm38)	A51T	possibly damaging	Het
Fer1l4	C	T	2: 156,045,683 (GRCm38)	G531D	probably damaging	Het
Frem2	A	T	3: 53,653,449 (GRCm38)	D1212E	probably benign	Het
Get4	G	T	5: 139,252,531 (GRCm38)	V23F	probably damaging	Het
Gm11595	C	T	11: 99,772,554 (GRCm38)	R100H	unknown	Het
Gria1	T	C	11: 57,310,678 (GRCm38)	W712R	probably damaging	Het
Herc2	A	G	7: 56,207,809 (GRCm38)	N4047D	probably damaging	Het
Hoxc9	A	G	15: 102,981,684 (GRCm38)	Y11C	possibly damaging	Het
Lama2	GCCC	GCC	10: 27,190,665 (GRCm38)		probably null	Het
Lrrc56	A	G	7: 141,209,385 (GRCm38)	T393A	probably benign	Het
Lrrc7	T	C	3: 158,185,493 (GRCm38)	I346V	probably benign	Het
Med14	T	C	X: 12,687,177 (GRCm38)	Y463C	probably damaging	Het
Nalcn	T	A	14: 123,278,187 (GRCm38)	D1734V	probably damaging	Het
Nfe2l3	A	T	6: 51,457,377 (GRCm38)	R306*	probably null	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,081,352 (GRCm38)		probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,081,359 (GRCm38)		probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,081,371 (GRCm38)		probably benign	Het
Npr1	A	T	3: 90,458,726 (GRCm38)	V586E	probably damaging	Het
Olfr192	A	C	16: 59,098,843 (GRCm38)	*50G	probably null	Het
Olfr715b	A	G	7: 107,106,463 (GRCm38)	S133P	probably benign	Het
Pcdhb4	T	C	18: 37,309,314 (GRCm38)	F559S	probably damaging	Het
Psmd12	T	G	11: 107,495,765 (GRCm38)	D387E	probably benign	Het
Psme4	T	A	11: 30,856,027 (GRCm38)		probably null	Het
Ptch1	T	G	13: 63,524,959 (GRCm38)	E944A	probably benign	Het
Rgs11	A	T	17: 26,203,500 (GRCm38)	I69F	probably damaging	Het
Ryr1	C	T	7: 29,020,152 (GRCm38)	A4277T	probably damaging	Het
Setbp1	C	T	18: 78,783,322 (GRCm38)	V1359I	probably benign	Het
Sis	A	T	3: 72,925,596 (GRCm38)	V956E	probably benign	Het
Slc35f3	T	A	8: 126,389,239 (GRCm38)	W302R	probably damaging	Het
Syt16	A	G	12: 74,229,398 (GRCm38)	E212G	possibly damaging	Het
Tdp2	C	A	13: 24,831,793 (GRCm38)	S21*	probably null	Het
Tfrc	A	T	16: 32,616,826 (GRCm38)	N173I	possibly damaging	Het
Tmem132b	A	T	5: 125,787,580 (GRCm38)	I917F	probably damaging	Het
Vbp1	T	C	X: 75,523,342 (GRCm38)	V122A	probably damaging	Het
Vmn1r225	G	A	17: 20,502,852 (GRCm38)	W185*	probably null	Het
Vmn1r70	A	G	7: 10,633,788 (GRCm38)	T68A	probably benign	Het
Zfp518a	A	G	19: 40,914,797 (GRCm38)	K1057E	possibly damaging	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
R1699:Erich1	UTSW	8	14,090,259 (GRCm38)	missense	possibly damaging	0.73
R2094:Erich1	UTSW	8	14,090,527 (GRCm38)	unclassified	probably benign
R2153:Erich1	UTSW	8	14,078,773 (GRCm38)	missense	probably benign	0.08
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'- GTAGGTGAAGCTGACCCCAG -3'
(R):5'- GAGCAGGAGGAATAGTATATCCATTTG -3'

Sequencing Primer
(F):5'- TGACCCCAGAGGCCTTC -3'
(R):5'- GTGGCTCACAACCATCTGTATTGAG -3'

Posted On

2015-04-02