Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00927:Erich1'

28027

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erich1

Ensembl Gene

ENSMUSG00000051978

Gene Name

glutamate rich 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL00927

Quality Score

Status

Chromosome

Chromosomal Location

14027561-14090301 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14033518 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 184 (F184S)

Ref Sequence

ENSEMBL: ENSMUSP00000106436 (fasta)

Gene Model

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

AlphaFold

E9PY43

Predicted Effect

probably damaging
Transcript: ENSMUST00000110813
AA Change: F184S

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

SMART Domains

Protein: ENSMUSP00000106436
Gene: ENSMUSG00000051978
AA Change: F184S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,848	T92A	probably damaging	Het
Ankhd1	A	G	18: 36,632,072	S1007G	probably benign	Het
Cabp4	A	T	19: 4,139,407	S50R	possibly damaging	Het
Camp	A	T	9: 109,849,268	L56Q	probably damaging	Het
Cblb	A	G	16: 52,166,098	N568S	probably benign	Het
Ccr6	C	A	17: 8,255,993	T10K	probably benign	Het
Chit1	T	C	1: 134,145,254	F106S	probably damaging	Het
Cyb561d1	A	G	3: 108,199,627	L34P	probably damaging	Het
Dcun1d1	A	T	3: 35,920,965		probably benign	Het
Deup1	A	G	9: 15,610,671		probably benign	Het
Fmnl3	A	G	15: 99,337,628		probably null	Het
Grk2	T	C	19: 4,287,954	N508S	probably benign	Het
Herc4	A	G	10: 63,273,537	I184V	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kif3b	G	A	2: 153,316,461	A61T	possibly damaging	Het
Kmt2d	G	A	15: 98,845,009		probably benign	Het
Lrrc7	C	A	3: 158,161,090	V1005L	possibly damaging	Het
Lrrtm1	A	T	6: 77,244,063	M168L	probably benign	Het
Ndc1	C	T	4: 107,384,780		probably benign	Het
Nphs1	A	G	7: 30,460,739		probably benign	Het
Olfr692	A	T	7: 105,369,247	Y298F	probably damaging	Het
Pbld2	T	C	10: 63,071,955	V200A	probably benign	Het
Pcdhb21	A	G	18: 37,514,553	Y245C	probably damaging	Het
Pcm1	A	G	8: 41,287,881	T1055A	probably damaging	Het
Plcl2	C	T	17: 50,606,920	S319L	probably benign	Het
Plekha8	C	A	6: 54,629,837	Y372*	probably null	Het
Ralb	T	A	1: 119,471,776	N184I	probably benign	Het
Robo3	C	T	9: 37,427,754		probably null	Het
Slc41a1	T	A	1: 131,839,176	L144H	probably damaging	Het
Smg1	C	T	7: 118,140,632	G3364D	probably damaging	Het
Theg	A	G	10: 79,576,599	S329P	probably damaging	Het
Ttc26	T	C	6: 38,382,220		probably benign	Het
Vmn1r123	T	A	7: 21,162,291	V36D	possibly damaging	Het
Zbtb7c	T	C	18: 76,145,850	S460P	possibly damaging	Het
Zscan30	T	C	18: 23,971,777		noncoding transcript	Het

Other mutations in Erich1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Erich1	APN	8	14033770	splice site	probably benign
IGL01448:Erich1	APN	8	14078853	missense	possibly damaging	0.95
R1165:Erich1	UTSW	8	14090530	unclassified	probably benign
R1541:Erich1	UTSW	8	14030688	missense	probably damaging	0.97
R1699:Erich1	UTSW	8	14090259	missense	possibly damaging	0.73
R2094:Erich1	UTSW	8	14090527	unclassified	probably benign
R2153:Erich1	UTSW	8	14078773	missense	probably benign	0.08
R3807:Erich1	UTSW	8	14033695	missense	probably benign	0.11
R5787:Erich1	UTSW	8	14033776	splice site	probably null
R6119:Erich1	UTSW	8	14033692	missense	probably benign
R7034:Erich1	UTSW	8	14064330	missense	probably benign	0.02
R7363:Erich1	UTSW	8	14033688	missense	probably benign	0.05
R7687:Erich1	UTSW	8	14030691	missense	probably damaging	0.99
R9087:Erich1	UTSW	8	14033623	missense	probably damaging	0.99
R9376:Erich1	UTSW	8	14030719	missense	probably damaging	1.00

Posted On

2013-04-17