Mutagenetix > Incidental Mutation

Incidental Mutation 'R7434:Erich6b'

576642

Institutional Source

Beutler Lab

Gene Symbol

Erich6b

Ensembl Gene

ENSMUSG00000022002

Gene Name

glutamate rich 6B

Synonyms

Gm46471, 4930564B18Rik

MMRRC Submission

045511-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R7434 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75879689-75934157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75901024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 113 (I113V)

Ref Sequence

ENSEMBL: ENSMUSP00000022579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022579]

AlphaFold

A0A571BEV3

Predicted Effect

probably benign
Transcript: ENSMUST00000022579
AA Change: I113V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000022579
Gene: ENSMUSG00000022002
AA Change: I113V

Domain	Start	End	E-Value	Type
low complexity region	50	77	N/A	INTRINSIC
low complexity region	129	145	N/A	INTRINSIC
low complexity region	204	216	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	T	C	4: 86,344,115 (GRCm39)	V1731A	probably damaging	Het
Bcat2	A	G	7: 45,225,429 (GRCm39)		probably null	Het
Bcl6	T	G	16: 23,788,798 (GRCm39)	E523D	possibly damaging	Het
Cdcp3	C	T	7: 130,881,212 (GRCm39)	S1828F	unknown	Het
Col4a2	T	A	8: 11,471,250 (GRCm39)	N503K	probably damaging	Het
Cyb5r1	G	A	1: 134,335,576 (GRCm39)	C166Y	probably benign	Het
Cyp2w1	T	C	5: 139,342,775 (GRCm39)	V490A	possibly damaging	Het
Fabp12	C	T	3: 10,312,738 (GRCm39)	V95I	probably benign	Het
Gask1b	T	A	3: 79,848,669 (GRCm39)	F472I	probably damaging	Het
Gpr3	T	C	4: 132,938,448 (GRCm39)	M75V	probably benign	Het
Grm5	T	G	7: 87,779,682 (GRCm39)	S1073A	probably benign	Het
Hoxc9	A	G	15: 102,892,414 (GRCm39)	K209R	probably damaging	Het
Irgm2	T	G	11: 58,110,291 (GRCm39)	V6G	probably benign	Het
Jakmip2	A	G	18: 43,690,444 (GRCm39)	V627A	possibly damaging	Het
Kansl1l	C	G	1: 66,801,262 (GRCm39)	S568T	probably damaging	Het
Lims1	A	G	10: 58,230,301 (GRCm39)	T21A	probably benign	Het
Lpar2	G	T	8: 70,279,165 (GRCm39)	A320S	probably benign	Het
Lpcat4	A	G	2: 112,073,400 (GRCm39)	N235S	probably damaging	Het
Ly6g2	T	C	15: 75,088,567 (GRCm39)	F12L	probably benign	Het
Meis1	A	T	11: 18,835,542 (GRCm39)	S359T	unknown	Het
Mtor	C	T	4: 148,549,416 (GRCm39)	T600I	probably benign	Het
Ncbp1	T	C	4: 46,149,910 (GRCm39)	S144P	probably damaging	Het
Ncor1	T	C	11: 62,274,025 (GRCm39)	E205G	probably damaging	Het
Nid1	T	C	13: 13,643,049 (GRCm39)	I329T	probably benign	Het
Nos3	T	C	5: 24,587,633 (GRCm39)	I1031T	probably damaging	Het
Nyap1	A	G	5: 137,734,530 (GRCm39)	S168P	probably damaging	Het
Or56a4	A	G	7: 104,806,106 (GRCm39)	V261A	probably damaging	Het
Pam	T	A	1: 97,903,515 (GRCm39)	K73*	probably null	Het
Pcdhga11	T	C	18: 37,891,005 (GRCm39)	V671A	probably benign	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Ric1	A	G	19: 29,552,180 (GRCm39)	D317G	probably damaging	Het
Scn1a	T	C	2: 66,103,389 (GRCm39)	E1957G	probably benign	Het
Srcap	T	C	7: 127,159,414 (GRCm39)	S3097P	unknown	Het
Tas2r113	C	T	6: 132,870,272 (GRCm39)	T100I	probably benign	Het
Tnni1	A	G	1: 135,735,260 (GRCm39)	D57G		Het
Trim29	G	A	9: 43,246,428 (GRCm39)	V575I	probably damaging	Het
Trpv3	G	A	11: 73,179,087 (GRCm39)	V499M	probably damaging	Het
Ubr1	C	T	2: 120,693,161 (GRCm39)	M1748I	probably benign	Het
Upk1a	A	T	7: 30,306,617 (GRCm39)	M99K	probably damaging	Het
Usp16	T	A	16: 87,276,207 (GRCm39)	L515*	probably null	Het
Vmn1r103	T	C	7: 20,244,435 (GRCm39)	K9E	probably damaging	Het
Vwde	A	G	6: 13,187,639 (GRCm39)	V616A	probably benign	Het
Zfp101	A	T	17: 33,600,564 (GRCm39)	S397R	possibly damaging	Het

Other mutations in Erich6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Erich6b	APN	14	75,896,208 (GRCm39)	missense	probably benign	0.01
R0631:Erich6b	UTSW	14	75,896,449 (GRCm39)	splice site	probably benign
R2065:Erich6b	UTSW	14	75,896,351 (GRCm39)	missense	probably benign	0.06
R2173:Erich6b	UTSW	14	75,896,332 (GRCm39)	missense	probably benign	0.27
R4033:Erich6b	UTSW	14	75,896,207 (GRCm39)	missense	probably benign	0.18
R5009:Erich6b	UTSW	14	75,902,596 (GRCm39)	missense	possibly damaging	0.66
R5533:Erich6b	UTSW	14	75,896,274 (GRCm39)	missense	possibly damaging	0.92
R5712:Erich6b	UTSW	14	75,896,340 (GRCm39)	missense	possibly damaging	0.81
R9358:Erich6b	UTSW	14	75,902,668 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- TCCCCTACTGTTTAAAGAAAACCG -3'
(R):5'- AGCGTGACACAAGTGGGTAC -3'

Sequencing Primer
(F):5'- AGAGGACACATCGCTTCTTG -3'
(R):5'- CACAAGTGGGTACTGTGGTAACTTTC -3'

Posted On

2019-10-07