Mutagenetix > Incidental Mutation

Incidental Mutation 'R6284:Erich2'

508088

Institutional Source

Beutler Lab

Gene Symbol

Erich2

Ensembl Gene

ENSMUSG00000075302

Gene Name

glutamate rich 2

Synonyms

4933404M02Rik

MMRRC Submission

044454-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70339163-70371228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70370028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 402 (I402N)

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: I402N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097619
Gene: ENSMUSG00000075302
AA Change: I402N

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

probably damaging
Transcript: ENSMUST00000134607
AA Change: I376N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122481
Gene: ENSMUSG00000075302
AA Change: I376N

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: ENSMUST00000151851

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,324,437 (GRCm39)	G16C	probably damaging	Het
Abca7	G	A	10: 79,840,244 (GRCm39)	V801I	probably benign	Het
Adgrl2	A	T	3: 148,532,143 (GRCm39)	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,735,394 (GRCm39)	T423A	possibly damaging	Het
Anpep	T	A	7: 79,475,550 (GRCm39)	D111V	probably damaging	Het
Atm	T	A	9: 53,356,676 (GRCm39)		probably null	Het
Atp5f1a	T	A	18: 77,866,168 (GRCm39)	S106T	probably benign	Het
Atp5me	T	C	5: 108,581,925 (GRCm39)	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605 (GRCm39)		probably null	Het
Bclaf1	T	G	10: 20,197,906 (GRCm39)		probably null	Het
Bod1l	A	G	5: 41,976,130 (GRCm39)	V1728A	probably benign	Het
Braf	A	G	6: 39,665,216 (GRCm39)	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,232,175 (GRCm39)	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,726,850 (GRCm39)		probably null	Het
Cdh26	G	C	2: 178,091,677 (GRCm39)	G79R	probably damaging	Het
Cenpf	A	G	1: 189,384,939 (GRCm39)	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,536,253 (GRCm39)	F863L	probably damaging	Het
Clstn2	C	T	9: 97,336,727 (GRCm39)	G917S	probably benign	Het
Col6a6	A	T	9: 105,604,426 (GRCm39)		probably null	Het
Cul5	G	A	9: 53,535,035 (GRCm39)	P596L	probably damaging	Het
Dst	A	T	1: 34,268,166 (GRCm39)	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,971,384 (GRCm39)	E69G	possibly damaging	Het
Elp1	A	T	4: 56,762,281 (GRCm39)	I1106K	probably damaging	Het
Fam162b	T	C	10: 51,461,598 (GRCm39)	K155R	probably damaging	Het
Fhip1a	G	A	3: 85,579,995 (GRCm39)	P737S	probably benign	Het
Glb1l2	A	T	9: 26,678,744 (GRCm39)	S466T	probably benign	Het
Kazn	G	A	4: 141,844,508 (GRCm39)	L402F	probably benign	Het
Kcnj13	A	T	1: 87,314,608 (GRCm39)	S205T	probably damaging	Het
Lama1	T	A	17: 68,117,091 (GRCm39)	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,563,411 (GRCm39)	C41G	unknown	Het
Lyar	T	A	5: 38,383,339 (GRCm39)	W77R	probably damaging	Het
Marchf11	G	A	15: 26,409,432 (GRCm39)	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,185,561 (GRCm39)	F869L	probably benign	Het
Myom1	T	A	17: 71,329,887 (GRCm39)	Y6*	probably null	Het
Myzap	T	C	9: 71,466,207 (GRCm39)	I150V	probably benign	Het
Nop14	C	T	5: 34,798,835 (GRCm39)		probably null	Het
Oprl1	T	A	2: 181,359,784 (GRCm39)		probably benign	Het
Pacsin1	T	C	17: 27,927,478 (GRCm39)	L432P	probably damaging	Het
Peak1	A	G	9: 56,167,580 (GRCm39)	L116P	probably benign	Het
Plcb2	C	T	2: 118,547,782 (GRCm39)	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,723,416 (GRCm39)	I269N	probably damaging	Het
Pnpla7	C	A	2: 24,906,630 (GRCm39)	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,076,178 (GRCm39)	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,211,186 (GRCm39)	T113K	probably benign	Het
Rrp7a	A	T	15: 83,006,061 (GRCm39)	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,900,847 (GRCm39)		probably null	Het
Slco1a7	T	C	6: 141,671,119 (GRCm39)	D451G	probably damaging	Het
Stxbp5	C	A	10: 9,642,931 (GRCm39)	G1056V	probably damaging	Het
Stxbp5	A	C	10: 9,642,923 (GRCm39)	S1059A	probably benign	Het
Taldo1	T	A	7: 140,978,496 (GRCm39)	S149T	possibly damaging	Het
Tlr1	T	C	5: 65,084,442 (GRCm39)	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 122,770,558 (GRCm39)	S783P	probably damaging	Het
Trap1	A	G	16: 3,878,673 (GRCm39)	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,601 (GRCm39)	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,773,028 (GRCm39)	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,387,833 (GRCm39)	Y398H	probably damaging	Het
Ube2z	A	G	11: 95,941,233 (GRCm39)	F303S	probably damaging	Het
Vmn1r211	A	G	13: 23,036,254 (GRCm39)	S138P	probably damaging	Het
Zfp1002	T	A	2: 150,097,198 (GRCm39)	Y77F	possibly damaging	Het
Zfp93	T	A	7: 23,975,054 (GRCm39)	C346*	probably null	Het
Zfp938	A	T	10: 82,063,400 (GRCm39)	S52R	possibly damaging	Het
Zp1	A	T	19: 10,893,867 (GRCm39)	L446Q	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
R0503:Erich2	UTSW	2	70,340,043 (GRCm39)	missense	probably damaging	0.96
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
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'- GGTAGGAAATACAGAGAGCATCATTTC -3'
(R):5'- GACATTCCTTAACATTCCCTGAAGATG -3'

Sequencing Primer
(F):5'- GAAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- CCTTCAGCAATATCTCTTCAATAA -3'

Posted On

2018-03-15