Mutagenetix > Incidental Mutation

Incidental Mutation 'R4214:Erich5'

319366

Institutional Source

Beutler Lab

Gene Symbol

Erich5

Ensembl Gene

ENSMUSG00000044726

Gene Name

glutamate rich 5

Synonyms

BC030476

MMRRC Submission

041041-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R4214 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34453458-34474038 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34471557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 262 (P262L)

Ref Sequence

ENSEMBL: ENSMUSP00000058182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060894]

AlphaFold

Q8K0S2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060894
AA Change: P262L

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058182
Gene: ENSMUSG00000044726
AA Change: P262L

Domain	Start	End	E-Value	Type
Pfam:DUF4573	95	251	4.6e-60	PFAM
coiled coil region	318	349	N/A	INTRINSIC
low complexity region	353	358	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.5%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	C	T	1: 192,515,845 (GRCm39)		noncoding transcript	Het
Abca12	T	A	1: 71,327,856 (GRCm39)	D1408V	probably damaging	Het
Abca13	A	T	11: 9,243,877 (GRCm39)	L1913F	probably damaging	Het
Acad9	A	G	3: 36,127,752 (GRCm39)	E118G	probably damaging	Het
Adamts5	G	A	16: 85,665,531 (GRCm39)	A590V	probably damaging	Het
Ano6	A	C	15: 95,863,790 (GRCm39)	Y791S	probably benign	Het
Aox1	T	C	1: 58,346,603 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,261,051 (GRCm39)	I128N	probably damaging	Het
Atp2b3	A	G	X: 72,613,921 (GRCm39)	M1142V	probably benign	Het
AU041133	A	G	10: 81,987,223 (GRCm39)	H292R	probably damaging	Het
Bco2	A	G	9: 50,456,666 (GRCm39)	M158T	probably benign	Het
Bpnt1	T	A	1: 185,077,626 (GRCm39)		probably benign	Het
Cadm1	A	G	9: 47,708,741 (GRCm39)	D157G	probably damaging	Het
Catsperg1	T	C	7: 28,895,357 (GRCm39)	R499G	possibly damaging	Het
Ccr7	T	C	11: 99,035,872 (GRCm39)	E350G	probably damaging	Het
Ceacam5	T	A	7: 17,486,076 (GRCm39)	S524R	probably benign	Het
Cep78	T	C	19: 15,936,943 (GRCm39)	T588A	probably benign	Het
Cfap65	T	A	1: 74,966,840 (GRCm39)	E282D	possibly damaging	Het
Drd2	A	G	9: 49,316,221 (GRCm39)	K327R	probably benign	Het
Ezh2	A	C	6: 47,510,748 (GRCm39)	D578E	probably damaging	Het
Fez1	A	G	9: 36,781,784 (GRCm39)	N20S	probably damaging	Het
Folr2	T	G	7: 101,492,906 (GRCm39)	K39T	probably damaging	Het
Gm10549	G	T	18: 33,597,530 (GRCm39)		probably null	Het
Gm14393	C	T	2: 174,903,640 (GRCm39)	C89Y	probably benign	Het
Gm5329	T	G	7: 31,671,828 (GRCm39)		noncoding transcript	Het
Gm7367	A	G	7: 59,805,517 (GRCm39)		noncoding transcript	Het
Gpr162	A	T	6: 124,837,031 (GRCm39)	W338R	probably damaging	Het
Ift80	A	T	3: 68,898,141 (GRCm39)	F65I	possibly damaging	Het
Klra6	T	G	6: 129,995,885 (GRCm39)	I158L	probably benign	Het
Lpp	T	A	16: 24,580,804 (GRCm39)	Y173*	probably null	Het
Lrp12	A	G	15: 39,735,976 (GRCm39)	V671A	probably benign	Het
Lrrc27	C	T	7: 138,803,609 (GRCm39)	R178C	probably damaging	Het
Lrrc49	G	A	9: 60,573,609 (GRCm39)	T225M	probably benign	Het
Megf8	T	A	7: 25,054,793 (GRCm39)	S1915T	probably benign	Het
Mmadhc	T	C	2: 50,181,344 (GRCm39)	T109A	probably benign	Het
Mon2	T	C	10: 122,852,397 (GRCm39)	E992G	probably benign	Het
Msl3	A	G	X: 167,450,059 (GRCm39)	I267T	probably damaging	Het
Msl3	A	T	X: 167,445,430 (GRCm39)	N430K	probably damaging	Het
Nab2	G	T	10: 127,500,917 (GRCm39)	Y25*	probably null	Het
Notch3	T	C	17: 32,351,181 (GRCm39)	E1938G	possibly damaging	Het
Or5ae2	C	T	7: 84,506,497 (GRCm39)	H307Y	probably benign	Het
Osgepl1	A	G	1: 53,354,167 (GRCm39)	T44A	probably damaging	Het
Pdpr	A	G	8: 111,856,212 (GRCm39)		probably benign	Het
Pfkp	A	G	13: 6,669,261 (GRCm39)	S241P	probably damaging	Het
Phgdh	A	T	3: 98,235,377 (GRCm39)	S166T	possibly damaging	Het
Plcl1	C	T	1: 55,790,494 (GRCm39)	Q1055*	probably null	Het
Plscr2	A	G	9: 92,169,790 (GRCm39)	N80S	probably benign	Het
Polr3k	A	T	2: 181,510,035 (GRCm39)	M80L	probably benign	Het
Prex2	A	G	1: 11,171,383 (GRCm39)	D304G	probably damaging	Het
Prex2	A	G	1: 11,355,285 (GRCm39)	T1529A	probably damaging	Het
Rcvrn	A	T	11: 67,586,514 (GRCm39)	H91L	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Tbx18	T	C	9: 87,606,518 (GRCm39)	Y209C	probably damaging	Het
Themis3	T	C	17: 66,867,012 (GRCm39)	N76S	probably benign	Het
Trhde	A	T	10: 114,623,975 (GRCm39)	S310T	possibly damaging	Het
Vmn1r213	G	A	13: 23,196,173 (GRCm39)	C252Y	possibly damaging	Het
Zfp523	T	C	17: 28,420,003 (GRCm39)	V216A	probably benign	Het

Other mutations in Erich5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02137:Erich5	APN	15	34,470,900 (GRCm39)	missense	probably damaging	0.98
IGL02237:Erich5	APN	15	34,471,482 (GRCm39)	missense	probably benign	0.13
IGL02457:Erich5	APN	15	34,470,999 (GRCm39)	missense	probably damaging	1.00
R0311:Erich5	UTSW	15	34,473,085 (GRCm39)	makesense	probably null
R0625:Erich5	UTSW	15	34,471,515 (GRCm39)	missense	probably damaging	1.00
R2857:Erich5	UTSW	15	34,471,560 (GRCm39)	missense	probably damaging	1.00
R3745:Erich5	UTSW	15	34,470,878 (GRCm39)	missense	probably damaging	0.96
R4646:Erich5	UTSW	15	34,471,112 (GRCm39)	missense	possibly damaging	0.47
R6309:Erich5	UTSW	15	34,471,602 (GRCm39)	missense	probably benign
R7002:Erich5	UTSW	15	34,471,508 (GRCm39)	missense	probably damaging	0.98
R7151:Erich5	UTSW	15	34,471,095 (GRCm39)	missense	probably damaging	0.99
R8523:Erich5	UTSW	15	34,471,502 (GRCm39)	missense	probably benign	0.37
R8930:Erich5	UTSW	15	34,453,844 (GRCm39)	missense	probably benign	0.00
R8932:Erich5	UTSW	15	34,453,844 (GRCm39)	missense	probably benign	0.00
R9267:Erich5	UTSW	15	34,471,563 (GRCm39)	missense	possibly damaging	0.89
R9355:Erich5	UTSW	15	34,471,001 (GRCm39)	missense	probably damaging	1.00
X0024:Erich5	UTSW	15	34,470,983 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GCCCCAGATTCTAGAAGCAATTC -3'
(R):5'- TTGGAGCCACCCTAGCAGTTAG -3'

Sequencing Primer
(F):5'- GATTCTAGAAGCAATTCCCAAAGAG -3'
(R):5'- ACCCTAGCAGTTAGGCCCTG -3'

Posted On

2015-06-10