Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01074:Erich6b'

52658

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erich6b

Ensembl Gene

ENSMUSG00000022002

Gene Name

glutamate rich 6B

Synonyms

Gm46471, 4930564B18Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01074

Quality Score

Status

Chromosome

Chromosomal Location

75879689-75934157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75896208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 31 (N31K)

Ref Sequence

ENSEMBL: ENSMUSP00000022579 (fasta)

Gene Model

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

AlphaFold

A0A571BEV3

Predicted Effect

probably benign
Transcript: ENSMUST00000022579
AA Change: N31K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000022579
Gene: ENSMUSG00000022002
AA Change: N31K

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,849,726 (GRCm39)	D1934G	possibly damaging	Het
Adcy2	A	T	13: 68,944,773 (GRCm39)	I203N	possibly damaging	Het
Asxl3	T	C	18: 22,655,902 (GRCm39)	V1304A	probably damaging	Het
Bltp3a	A	G	17: 28,098,265 (GRCm39)	I136V	possibly damaging	Het
Cmah	A	G	13: 24,648,238 (GRCm39)	D491G	possibly damaging	Het
Cobll1	A	G	2: 64,938,192 (GRCm39)	S364P	probably damaging	Het
Cspg4	T	C	9: 56,806,149 (GRCm39)	L2320P	probably damaging	Het
Defa5	T	A	8: 21,787,592 (GRCm39)	F46L	possibly damaging	Het
Fcrl6	C	T	1: 172,426,680 (GRCm39)	V89M	possibly damaging	Het
Gm5458	G	T	14: 19,649,760 (GRCm39)	L155I	probably damaging	Het
Hlx	T	C	1: 184,460,010 (GRCm39)	D376G	probably damaging	Het
Hmcn1	A	G	1: 150,502,784 (GRCm39)	S3948P	possibly damaging	Het
Igf2bp2	G	A	16: 21,882,454 (GRCm39)	R416W	probably damaging	Het
Lama4	T	C	10: 38,974,484 (GRCm39)		probably null	Het
Lingo4	T	C	3: 94,310,595 (GRCm39)	V511A	probably benign	Het
Mllt3	C	A	4: 87,710,118 (GRCm39)	V29L	probably benign	Het
Mmp16	T	C	4: 18,110,584 (GRCm39)		probably benign	Het
Moxd1	A	G	10: 24,155,282 (GRCm39)	R228G	probably benign	Het
Myrfl	T	C	10: 116,615,490 (GRCm39)	N802S	possibly damaging	Het
Nmu	C	A	5: 76,491,774 (GRCm39)	V121F	probably damaging	Het
Npepps	T	C	11: 97,108,637 (GRCm39)	T760A	probably damaging	Het
Ogfod1	G	T	8: 94,789,634 (GRCm39)	W445L	probably damaging	Het
Oplah	G	A	15: 76,189,948 (GRCm39)	P222S	probably damaging	Het
Or4c116	T	C	2: 88,942,023 (GRCm39)	T278A	probably benign	Het
Slc4a4	T	A	5: 89,327,633 (GRCm39)	L699H	probably damaging	Het
Sod3	C	T	5: 52,525,540 (GRCm39)	Q80*	probably null	Het
Syne2	C	T	12: 76,078,361 (GRCm39)	Q4732*	probably null	Het
Syne2	T	C	12: 76,033,785 (GRCm39)	I3678T	probably benign	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tmem220	T	C	11: 66,922,999 (GRCm39)		probably benign	Het
Ush1c	A	G	7: 45,874,674 (GRCm39)		probably benign	Het
Wbp2nl	T	C	15: 82,198,491 (GRCm39)	S343P	possibly damaging	Het

Other mutations in Erich6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7434:Erich6b	UTSW	14	75,901,024 (GRCm39)	missense	probably benign	0.00
R9358:Erich6b	UTSW	14	75,902,668 (GRCm39)	missense	probably benign	0.27

Posted On

2013-06-21