Mutagenetix > Incidental Mutation

Incidental Mutation 'R0503:Erich2'

47232

Institutional Source

Beutler Lab

Gene Symbol

Erich2

Ensembl Gene

ENSMUSG00000075302

Gene Name

glutamate rich 2

Synonyms

4933404M02Rik

MMRRC Submission

038698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R0503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70339163-70371228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70340043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 169 (R169S)

Ref Sequence

ENSEMBL: ENSMUSP00000097619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100041] [ENSMUST00000134607]

AlphaFold

E9Q1A6

Predicted Effect

probably damaging
Transcript: ENSMUST00000100041
AA Change: R169S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097619
Gene: ENSMUSG00000075302
AA Change: R169S

Domain	Start	End	E-Value	Type
low complexity region	63	90	N/A	INTRINSIC
low complexity region	93	110	N/A	INTRINSIC
low complexity region	268	279	N/A	INTRINSIC
low complexity region	347	365	N/A	INTRINSIC
low complexity region	428	463	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123137

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134607
AA Change: R162S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122481
Gene: ENSMUSG00000075302
AA Change: R162S

Domain	Start	End	E-Value	Type
low complexity region	63	90	N/A	INTRINSIC
low complexity region	93	110	N/A	INTRINSIC
low complexity region	242	253	N/A	INTRINSIC
low complexity region	321	339	N/A	INTRINSIC
low complexity region	402	437	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151851

Predicted Effect

unknown
Transcript: ENSMUST00000153121
AA Change: R37S

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,322 (GRCm39)	H755R	possibly damaging	Het
Atp2c2	A	G	8: 120,461,316 (GRCm39)	E279G	probably null	Het
Ccdc65	G	T	15: 98,607,041 (GRCm39)	D83Y	probably damaging	Het
Cd200r2	T	A	16: 44,698,325 (GRCm39)	M1K	probably null	Het
Clca4c-ps	A	T	3: 144,585,583 (GRCm39)		noncoding transcript	Het
Col6a6	A	T	9: 105,644,550 (GRCm39)	M1246K	probably benign	Het
Comp	A	T	8: 70,828,384 (GRCm39)	N130I	possibly damaging	Het
Crot	A	G	5: 9,026,075 (GRCm39)	V304A	possibly damaging	Het
Dapk1	T	A	13: 60,878,662 (GRCm39)		probably null	Het
Dspp	A	T	5: 104,325,122 (GRCm39)	D495V	unknown	Het
Gab1	C	T	8: 81,526,771 (GRCm39)	R109H	probably damaging	Het
Ggcx	GTCTAT	GTCTATCTAT	6: 72,406,140 (GRCm39)		probably null	Het
Gria1	T	G	11: 57,080,542 (GRCm39)	V175G	probably damaging	Het
Hmcn1	C	T	1: 150,735,003 (GRCm39)	V170M	probably damaging	Het
Irx4	T	A	13: 73,414,703 (GRCm39)		probably null	Het
Katnb1	A	G	8: 95,821,802 (GRCm39)	T212A	probably damaging	Het
Kirrel1	A	G	3: 87,005,109 (GRCm39)	S80P	probably benign	Het
Lrrc75b	T	C	10: 75,389,488 (GRCm39)	T81A	possibly damaging	Het
Macf1	A	G	4: 123,363,608 (GRCm39)	S1775P	probably damaging	Het
Mmp10	A	T	9: 7,507,340 (GRCm39)	I387F	probably damaging	Het
Mphosph10	A	T	7: 64,039,641 (GRCm39)	C110S	probably benign	Het
Mpig6b	A	G	17: 35,283,424 (GRCm39)		probably benign	Het
Mrps27	G	T	13: 99,546,303 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mybpc2	A	G	7: 44,161,994 (GRCm39)		probably benign	Het
Nbea	C	T	3: 55,550,257 (GRCm39)	G2724S	possibly damaging	Het
Nck2	A	G	1: 43,572,728 (GRCm39)	M1V	probably null	Het
Nefl	T	A	14: 68,321,432 (GRCm39)	D7E	probably benign	Het
Nktr	T	A	9: 121,579,806 (GRCm39)		probably benign	Het
Nlrp12	C	T	7: 3,298,007 (GRCm39)	E55K	probably damaging	Het
Nsun7	T	A	5: 66,440,924 (GRCm39)		probably benign	Het
Or10d4c	A	G	9: 39,558,772 (GRCm39)	Y250C	probably damaging	Het
Or4c109	C	T	2: 88,818,322 (GRCm39)	V75I	probably benign	Het
Or4k5	T	A	14: 50,385,935 (GRCm39)	Y132F	probably damaging	Het
Or51a5	A	T	7: 102,771,643 (GRCm39)	M112K	possibly damaging	Het
Or6c2b	T	C	10: 128,947,671 (GRCm39)	T208A	probably damaging	Het
Or6f2	T	C	7: 139,756,354 (GRCm39)	V113A	possibly damaging	Het
Pcdh15	A	G	10: 74,046,217 (GRCm39)	T165A	probably damaging	Het
Pikfyve	A	T	1: 65,259,058 (GRCm39)	H410L	probably damaging	Het
Polr3c	A	T	3: 96,620,952 (GRCm39)		probably null	Het
Ptdss2	T	A	7: 140,731,710 (GRCm39)		probably benign	Het
Ptprg	A	G	14: 12,237,138 (GRCm38)	M1386V	possibly damaging	Het
Ptpru	T	C	4: 131,520,954 (GRCm39)	N784S	probably benign	Het
Rfx4	T	A	10: 84,730,196 (GRCm39)	I495K	possibly damaging	Het
Serpina12	C	A	12: 103,997,418 (GRCm39)	A368S	probably damaging	Het
Tmem39b	A	C	4: 129,580,779 (GRCm39)	Y238D	possibly damaging	Het
Tspan11	T	C	6: 127,916,075 (GRCm39)	W124R	probably benign	Het
Ttll10	T	C	4: 156,132,005 (GRCm39)		probably benign	Het
Tyro3	T	C	2: 119,633,711 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,045,127 (GRCm39)	M644V	probably benign	Het
Vmn1r196	G	A	13: 22,477,557 (GRCm39)	M65I	probably benign	Het
Vmn2r85	T	C	10: 130,258,609 (GRCm39)	Y482C	probably damaging	Het
Zfp940	A	G	7: 29,545,445 (GRCm39)		probably benign	Het
Zfyve9	A	T	4: 108,576,961 (GRCm39)	L40*	probably null	Het
Zkscan1	T	A	5: 138,091,588 (GRCm39)	I107N	probably damaging	Het

Other mutations in Erich2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02596:Erich2	APN	2	70,343,147 (GRCm39)	intron	probably benign
IGL02945:Erich2	APN	2	70,364,738 (GRCm39)	missense	probably damaging	0.99
IGL03227:Erich2	APN	2	70,343,114 (GRCm39)	intron	probably benign
IGL03055:Erich2	UTSW	2	70,339,529 (GRCm39)	missense	possibly damaging	0.83
R0503:Erich2	UTSW	2	70,371,119 (GRCm39)	missense	unknown
R1134:Erich2	UTSW	2	70,366,535 (GRCm39)	nonsense	probably null
R1496:Erich2	UTSW	2	70,343,117 (GRCm39)	intron	probably benign
R3689:Erich2	UTSW	2	70,371,097 (GRCm39)	missense	unknown
R4027:Erich2	UTSW	2	70,343,134 (GRCm39)	intron	probably benign
R4833:Erich2	UTSW	2	70,364,636 (GRCm39)	missense	possibly damaging	0.92
R6284:Erich2	UTSW	2	70,370,028 (GRCm39)	missense	probably damaging	1.00
R6884:Erich2	UTSW	2	70,339,505 (GRCm39)	missense	possibly damaging	0.94
R7485:Erich2	UTSW	2	70,362,109 (GRCm39)	missense	probably damaging	1.00
R7497:Erich2	UTSW	2	70,364,666 (GRCm39)	missense	probably damaging	1.00
R8356:Erich2	UTSW	2	70,357,873 (GRCm39)	splice site	probably null
R8998:Erich2	UTSW	2	70,361,964 (GRCm39)	unclassified	probably benign
R9698:Erich2	UTSW	2	70,371,055 (GRCm39)	missense	unknown
Z1176:Erich2	UTSW	2	70,339,458 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TTCGAGGAAACAACTTGGCAGGGC -3'
(R):5'- TCGTAGTGCGAACCTTTCTCCTGG -3'

Sequencing Primer
(F):5'- GCGGCCAGAGGGTAAGC -3'
(R):5'- GCTGGAAGTACTAGGATAGGAC -3'

Posted On

2013-06-12