Mutagenetix > Incidental Mutation

Incidental Mutation 'R1570:Erich6'

177166

Institutional Source

Beutler Lab

Gene Symbol

Erich6

Ensembl Gene

ENSMUSG00000070471

Gene Name

glutamate rich 6

Synonyms

4932431H17Rik, Fam194a

MMRRC Submission

039609-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R1570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58523721-58544628 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 58538080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041115] [ENSMUST00000041115]

AlphaFold

D3Z6S9

Predicted Effect

probably null
Transcript: ENSMUST00000041115

SMART Domains

Protein: ENSMUSP00000040882
Gene: ENSMUSG00000070471

Domain	Start	End	E-Value	Type
coiled coil region	27	77	N/A	INTRINSIC
low complexity region	164	174	N/A	INTRINSIC
low complexity region	386	400	N/A	INTRINSIC
Pfam:FAM194	473	675	5.4e-67	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000041115

SMART Domains

Protein: ENSMUSP00000040882
Gene: ENSMUSG00000070471

Domain	Start	End	E-Value	Type
coiled coil region	27	77	N/A	INTRINSIC
low complexity region	164	174	N/A	INTRINSIC
low complexity region	386	400	N/A	INTRINSIC
Pfam:FAM194	473	675	5.4e-67	PFAM

Meta Mutation Damage Score

0.9478

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

Validation Efficiency

93% (77/83)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec1	A	G	6: 122,568,044 (GRCm39)		probably null	Het
Arhgap21	G	T	2: 20,885,651 (GRCm39)	Q348K	probably benign	Het
Arl5c	A	G	11: 97,883,213 (GRCm39)	V129A	probably benign	Het
Armh1	A	G	4: 117,087,189 (GRCm39)	S159P	probably damaging	Het
Asb8	A	G	15: 98,034,309 (GRCm39)	L82P	probably damaging	Het
Bahcc1	G	A	11: 120,163,009 (GRCm39)	A436T	possibly damaging	Het
Btc	T	C	5: 91,550,576 (GRCm39)	D2G	unknown	Het
C1s2	G	A	6: 124,602,723 (GRCm39)	T490M	probably benign	Het
Caap1	C	T	4: 94,444,814 (GRCm39)	G43D	probably benign	Het
Ccr5	T	C	9: 123,925,000 (GRCm39)	V201A	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdhr5	C	A	7: 140,851,682 (GRCm39)	G541C	probably damaging	Het
Cep170	A	G	1: 176,583,367 (GRCm39)	I1004T	possibly damaging	Het
Chd9	A	T	8: 91,763,170 (GRCm39)	M2332L	probably benign	Het
Clk1	T	A	1: 58,453,584 (GRCm39)	H334L	probably benign	Het
Cyp4b1	G	A	4: 115,493,160 (GRCm39)	S228F	probably benign	Het
Dnah9	T	C	11: 66,003,156 (GRCm39)	N883D	probably benign	Het
Dync2h1	A	G	9: 7,176,926 (GRCm39)	L11P	probably benign	Het
Ephx4	A	G	5: 107,567,717 (GRCm39)	E225G	probably damaging	Het
Espl1	A	G	15: 102,206,802 (GRCm39)	T89A	probably damaging	Het
Evi2	T	A	11: 79,407,076 (GRCm39)	K166N	possibly damaging	Het
Glrx5	A	G	12: 104,999,127 (GRCm39)	T57A	possibly damaging	Het
Gnptab	T	A	10: 88,255,316 (GRCm39)	V222E	probably damaging	Het
Gpr155	T	C	2: 73,200,382 (GRCm39)	Y375C	possibly damaging	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Ildr2	T	C	1: 166,131,154 (GRCm39)	F337L	probably damaging	Het
Ino80	C	T	2: 119,277,509 (GRCm39)	R322Q	possibly damaging	Het
Lcp2	A	G	11: 34,039,601 (GRCm39)	D467G	probably benign	Het
Lmbr1	A	G	5: 29,459,556 (GRCm39)	I229T	probably damaging	Het
Lnpep	A	T	17: 17,799,418 (GRCm39)	M79K	probably damaging	Het
Lpin1	T	C	12: 16,610,999 (GRCm39)	Q564R	possibly damaging	Het
Lpin2	T	A	17: 71,552,176 (GRCm39)	L794*	probably null	Het
Lrrc37	A	G	11: 103,500,764 (GRCm39)	Y597H	possibly damaging	Het
Lrrc45	T	C	11: 120,610,935 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,529,278 (GRCm39)	S751P	probably damaging	Het
Nbr1	T	C	11: 101,455,656 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,599,749 (GRCm39)	F592S	possibly damaging	Het
Nup133	T	A	8: 124,675,915 (GRCm39)	M1L	possibly damaging	Het
Or2a20	T	C	6: 43,194,285 (GRCm39)	V146A	probably benign	Het
Or3a10	A	C	11: 73,935,633 (GRCm39)	F156V	possibly damaging	Het
Or4n4	T	G	14: 50,518,981 (GRCm39)	H243P	probably damaging	Het
Or4p8	A	C	2: 88,727,290 (GRCm39)	I217S	probably damaging	Het
Or52b4i	C	A	7: 102,191,177 (GRCm39)	H11Q	probably damaging	Het
Or8i2	A	T	2: 86,852,616 (GRCm39)	S91T	probably benign	Het
Otud7b	T	C	3: 96,063,208 (GRCm39)	C816R	probably damaging	Het
Pi4k2a	T	C	19: 42,089,083 (GRCm39)	V148A	probably benign	Het
Pih1d2	T	C	9: 50,532,479 (GRCm39)	M195T	probably benign	Het
Pira13	T	C	7: 3,826,060 (GRCm39)	E311G	probably benign	Het
Plpp6	T	C	19: 28,942,178 (GRCm39)	F260L	probably damaging	Het
R3hcc1l	A	T	19: 42,570,393 (GRCm39)	T663S	probably damaging	Het
Rnf25	T	C	1: 74,634,426 (GRCm39)	E199G	probably damaging	Het
Scin	G	A	12: 40,134,380 (GRCm39)		probably benign	Het
Serpinb1c	A	T	13: 33,080,973 (GRCm39)	S37T	probably benign	Het
Snx19	A	G	9: 30,339,639 (GRCm39)	D259G	probably damaging	Het
Sorcs3	A	G	19: 48,752,620 (GRCm39)	K805R	probably damaging	Het
Sox6	C	A	7: 115,376,358 (GRCm39)	G125W	probably damaging	Het
Spink5	A	G	18: 44,100,174 (GRCm39)	I64V	probably benign	Het
Spmip10	T	A	18: 56,727,606 (GRCm39)	D101E	probably benign	Het
St6galnac1	A	G	11: 116,657,474 (GRCm39)		probably benign	Het
Sult1c2	T	C	17: 54,143,991 (GRCm39)	I105V	probably benign	Het
Tacr3	T	G	3: 134,535,517 (GRCm39)	S162A	probably damaging	Het
Ttc6	T	C	12: 57,721,549 (GRCm39)	S1013P	probably damaging	Het
Zbtb11	C	A	16: 55,811,178 (GRCm39)	N445K	probably benign	Het
Zfp423	A	C	8: 88,509,186 (GRCm39)	V261G	probably benign	Het
Zfp59	T	C	7: 27,553,016 (GRCm39)	V156A	probably benign	Het
Zscan2	C	A	7: 80,513,141 (GRCm39)	A42E	probably damaging	Het

Other mutations in Erich6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Erich6	APN	3	58,544,464 (GRCm39)	missense	unknown
IGL01352:Erich6	APN	3	58,529,781 (GRCm39)	splice site	probably null
IGL01362:Erich6	APN	3	58,529,781 (GRCm39)	splice site	probably null
IGL01928:Erich6	APN	3	58,528,692 (GRCm39)	missense	probably damaging	1.00
IGL02930:Erich6	APN	3	58,529,775 (GRCm39)	splice site	probably benign
IGL03125:Erich6	APN	3	58,531,727 (GRCm39)	missense	probably benign	0.00
PIT4243001:Erich6	UTSW	3	58,537,300 (GRCm39)	missense	possibly damaging	0.51
R0081:Erich6	UTSW	3	58,543,547 (GRCm39)	splice site	probably benign
R0129:Erich6	UTSW	3	58,531,799 (GRCm39)	missense	probably damaging	1.00
R0308:Erich6	UTSW	3	58,543,525 (GRCm39)	missense	probably damaging	1.00
R0682:Erich6	UTSW	3	58,544,232 (GRCm39)	missense	probably benign	0.39
R0734:Erich6	UTSW	3	58,536,809 (GRCm39)	splice site	probably benign
R0744:Erich6	UTSW	3	58,543,543 (GRCm39)	splice site	probably benign
R0833:Erich6	UTSW	3	58,526,365 (GRCm39)	splice site	probably benign
R0836:Erich6	UTSW	3	58,526,365 (GRCm39)	splice site	probably benign
R1385:Erich6	UTSW	3	58,544,251 (GRCm39)	missense	probably benign	0.00
R1536:Erich6	UTSW	3	58,534,019 (GRCm39)	missense	probably benign	0.01
R1708:Erich6	UTSW	3	58,523,868 (GRCm39)	missense	probably benign	0.21
R2187:Erich6	UTSW	3	58,537,266 (GRCm39)	critical splice donor site	probably null
R2268:Erich6	UTSW	3	58,526,260 (GRCm39)	missense	probably benign	0.03
R2441:Erich6	UTSW	3	58,526,232 (GRCm39)	missense	probably damaging	1.00
R3803:Erich6	UTSW	3	58,528,753 (GRCm39)	missense	probably damaging	1.00
R3981:Erich6	UTSW	3	58,544,125 (GRCm39)	missense	probably benign	0.41
R4166:Erich6	UTSW	3	58,526,229 (GRCm39)	missense	probably damaging	1.00
R4298:Erich6	UTSW	3	58,531,712 (GRCm39)	missense	probably benign	0.09
R4729:Erich6	UTSW	3	58,543,480 (GRCm39)	critical splice donor site	probably null
R4838:Erich6	UTSW	3	58,544,251 (GRCm39)	missense	probably benign	0.00
R5117:Erich6	UTSW	3	58,530,626 (GRCm39)	missense	probably benign	0.00
R5305:Erich6	UTSW	3	58,532,537 (GRCm39)	missense	probably benign	0.21
R5546:Erich6	UTSW	3	58,526,218 (GRCm39)	missense	probably benign	0.39
R5605:Erich6	UTSW	3	58,532,540 (GRCm39)	missense	probably damaging	1.00
R6033:Erich6	UTSW	3	58,530,622 (GRCm39)	missense	probably benign	0.16
R6033:Erich6	UTSW	3	58,530,622 (GRCm39)	missense	probably benign	0.16
R6378:Erich6	UTSW	3	58,529,780 (GRCm39)	splice site	probably null
R6606:Erich6	UTSW	3	58,523,921 (GRCm39)	missense	probably damaging	1.00
R6736:Erich6	UTSW	3	58,532,475 (GRCm39)	missense	probably damaging	1.00
R6746:Erich6	UTSW	3	58,523,987 (GRCm39)	missense	possibly damaging	0.69
R6974:Erich6	UTSW	3	58,526,220 (GRCm39)	missense	probably benign	0.06
R6996:Erich6	UTSW	3	58,543,516 (GRCm39)	missense	probably damaging	1.00
R7317:Erich6	UTSW	3	58,544,305 (GRCm39)	missense	probably benign	0.26
R7484:Erich6	UTSW	3	58,534,112 (GRCm39)	splice site	probably null
R7526:Erich6	UTSW	3	58,538,110 (GRCm39)	missense	probably damaging	1.00
R7747:Erich6	UTSW	3	58,526,349 (GRCm39)	missense	probably damaging	1.00
R7947:Erich6	UTSW	3	58,528,699 (GRCm39)	missense	possibly damaging	0.63
R8358:Erich6	UTSW	3	58,544,449 (GRCm39)	nonsense	probably null
R8944:Erich6	UTSW	3	58,537,275 (GRCm39)	missense	probably benign	0.16
R8965:Erich6	UTSW	3	58,531,738 (GRCm39)	missense	probably benign	0.02
R9342:Erich6	UTSW	3	58,534,101 (GRCm39)	nonsense	probably null
R9429:Erich6	UTSW	3	58,536,935 (GRCm39)	missense	possibly damaging	0.93
R9622:Erich6	UTSW	3	58,544,162 (GRCm39)	missense	possibly damaging	0.86
R9624:Erich6	UTSW	3	58,536,766 (GRCm39)	missense	possibly damaging	0.83
R9633:Erich6	UTSW	3	58,537,277 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- TGTTTCTCGGCTAACAGATGCTGC -3'
(R):5'- TGACCCAAAAGGCCAGTTCTCCTC -3'

Sequencing Primer
(F):5'- CTGCTGAGGTTAACAAAGTTGCC -3'
(R):5'- CATCAGAACTTTCGATGGGC -3'

Posted On

2014-04-24