Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02945:Erich2'

364703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erich2

Ensembl Gene

ENSMUSG00000075302

Gene Name

glutamate rich 2

Synonyms

4933404M02Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02945

Quality Score

Status

Chromosome

Chromosomal Location

70339163-70371228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70364738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 371 (T371A)

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: T371A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097619
Gene: ENSMUSG00000075302
AA Change: T371A

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

possibly damaging
Transcript: ENSMUST00000134607
AA Change: T345A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122481
Gene: ENSMUSG00000075302
AA Change: T345A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411G06Rik	A	T	10: 51,633,095 (GRCm39)		noncoding transcript	Het
Adgrf4	T	C	17: 42,978,257 (GRCm39)	Q362R	probably benign	Het
Akap6	A	G	12: 52,927,620 (GRCm39)	N177D	probably damaging	Het
Alms1	A	G	6: 85,597,915 (GRCm39)	I914V	probably damaging	Het
Arhgap11a	A	T	2: 113,667,818 (GRCm39)	S394R	possibly damaging	Het
Cacna1h	C	T	17: 25,607,033 (GRCm39)	V962I	probably damaging	Het
Calr3	A	T	8: 73,192,401 (GRCm39)	L91Q	probably damaging	Het
Ccnf	T	C	17: 24,443,890 (GRCm39)	E626G	probably damaging	Het
Clec10a	A	T	11: 70,061,368 (GRCm39)	I295F	possibly damaging	Het
Cop1	A	T	1: 159,134,259 (GRCm39)	N167I	probably benign	Het
Csmd1	G	T	8: 16,321,584 (GRCm39)	Q505K	possibly damaging	Het
Ctrc	A	C	4: 141,573,563 (GRCm39)	V6G	possibly damaging	Het
Cyp2c69	T	C	19: 39,875,091 (GRCm39)	R21G	possibly damaging	Het
Dnah5	A	G	15: 28,270,572 (GRCm39)	H958R	probably benign	Het
Egfr	T	A	11: 16,702,514 (GRCm39)	L11Q	probably damaging	Het
Fbxl21	T	A	13: 56,674,983 (GRCm39)	F111L	probably damaging	Het
Grik4	G	T	9: 42,509,175 (GRCm39)	T416N	possibly damaging	Het
Grin3a	A	G	4: 49,792,971 (GRCm39)	V254A	possibly damaging	Het
Hat1	G	A	2: 71,251,037 (GRCm39)	R195K	probably benign	Het
Hmgb4	A	C	4: 128,154,387 (GRCm39)	Y60*	probably null	Het
Ighv12-3	A	G	12: 114,330,337 (GRCm39)	W53R	probably damaging	Het
Irs2	C	A	8: 11,057,781 (GRCm39)	C217F	probably damaging	Het
Kcnb1	T	C	2: 167,030,308 (GRCm39)	E79G	probably benign	Het
Lingo3	A	G	10: 80,670,532 (GRCm39)	I466T	probably damaging	Het
Lyst	T	C	13: 13,935,783 (GRCm39)	S3665P	possibly damaging	Het
Myh9	A	T	15: 77,646,205 (GRCm39)	L1926Q	probably benign	Het
Myom1	A	G	17: 71,399,088 (GRCm39)		probably benign	Het
Nbeal1	T	C	1: 60,245,569 (GRCm39)	F198L	probably damaging	Het
Nktr	A	G	9: 121,557,697 (GRCm39)	T63A	probably damaging	Het
Nle1	A	T	11: 82,794,910 (GRCm39)		probably benign	Het
Nr3c2	A	T	8: 77,636,288 (GRCm39)	D463V	probably damaging	Het
Or5k17	A	T	16: 58,746,703 (GRCm39)	I77N	probably damaging	Het
Or8b43	A	G	9: 38,360,812 (GRCm39)	I215V	probably benign	Het
Pcdhb18	T	C	18: 37,623,048 (GRCm39)	I126T	probably benign	Het
Pgm1	A	G	4: 99,818,731 (GRCm39)	I127V	probably benign	Het
Rai14	A	G	15: 10,574,795 (GRCm39)	I721T	probably benign	Het
Rps6ka1	A	G	4: 133,594,510 (GRCm39)	Y57H	probably damaging	Het
Scara3	T	A	14: 66,168,660 (GRCm39)	D319V	probably damaging	Het
Selp	G	A	1: 163,961,498 (GRCm39)	G404S	probably damaging	Het
Serinc3	A	G	2: 163,472,836 (GRCm39)		probably benign	Het
Slc4a8	A	G	15: 100,705,080 (GRCm39)		probably null	Het
Spen	G	T	4: 141,221,624 (GRCm39)	L325I	unknown	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Thumpd1	A	T	7: 119,315,970 (GRCm39)	S326R	possibly damaging	Het
Tmem255b	T	C	8: 13,505,141 (GRCm39)	S149P	probably damaging	Het
Tnni3k	A	T	3: 154,743,075 (GRCm39)	S95T	possibly damaging	Het
Trim66	G	A	7: 109,059,383 (GRCm39)	Q954*	probably null	Het
Ttn	A	T	2: 76,582,316 (GRCm39)	I22859N	probably damaging	Het
Zfp319	A	T	8: 96,050,446 (GRCm39)		probably benign	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
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
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

Posted On

2015-12-18