Mutagenetix > Incidental Mutation

Incidental Mutation 'R2441:Erich6'

249775

Institutional Source

Beutler Lab

Gene Symbol

Erich6

Ensembl Gene

ENSMUSG00000070471

Gene Name

glutamate rich 6

Synonyms

4932431H17Rik, Fam194a

MMRRC Submission

040399-MU

Accession Numbers

Essential gene?

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

Stock #

R2441 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58523721-58544628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58526232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 590 (L590Q)

Ref Sequence

ENSEMBL: ENSMUSP00000040882 (fasta)

Gene Model

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

AlphaFold

D3Z6S9

Predicted Effect

probably damaging
Transcript: ENSMUST00000041115
AA Change: L590Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040882
Gene: ENSMUSG00000070471
AA Change: L590Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,449 (GRCm39)	N172S	possibly damaging	Het
AY358078	A	G	14: 52,037,546 (GRCm39)	H15R	probably benign	Het
Boc	A	G	16: 44,308,986 (GRCm39)	V842A	probably damaging	Het
Chuk	T	A	19: 44,085,360 (GRCm39)	N262I	probably damaging	Het
Fsip2	A	T	2: 82,815,685 (GRCm39)	H3806L	possibly damaging	Het
Gucy1b1	T	C	3: 81,952,761 (GRCm39)	D224G	probably damaging	Het
Hgf	A	T	5: 16,809,788 (GRCm39)	H426L	probably damaging	Het
Nrxn2	G	T	19: 6,478,331 (GRCm39)	G85W	probably damaging	Het
Ntrk3	A	T	7: 77,952,410 (GRCm39)	N602K	probably damaging	Het
Or13p10	G	A	4: 118,523,332 (GRCm39)	G206D	possibly damaging	Het
Or5p51	T	C	7: 107,444,185 (GRCm39)	T252A	probably benign	Het
P3h4	G	A	11: 100,304,594 (GRCm39)	R216W	probably damaging	Het
Pced1b	T	A	15: 97,282,166 (GRCm39)	D68E	possibly damaging	Het
Pzp	A	T	6: 128,466,731 (GRCm39)	L1161*	probably null	Het
Rprd1a	A	T	18: 24,640,257 (GRCm39)	L173*	probably null	Het
Slfn3	A	G	11: 83,103,509 (GRCm39)	I127V	probably benign	Het
Sp100	A	G	1: 85,631,210 (GRCm39)		probably benign	Het
Tbx15	T	G	3: 99,259,827 (GRCm39)	M566R	probably damaging	Het
Tesmin	G	A	19: 3,452,577 (GRCm39)		probably null	Het
Tmem132a	A	G	19: 10,837,501 (GRCm39)	V603A	probably damaging	Het
Tob2	G	T	15: 81,735,923 (GRCm39)	Y15*	probably null	Het
Trim23	A	T	13: 104,328,583 (GRCm39)	Q307L	probably damaging	Het
Trpc4	A	T	3: 54,129,704 (GRCm39)	I157L	probably damaging	Het
Tsen34	A	T	7: 3,697,994 (GRCm39)	K87N	possibly damaging	Het
Ubr5	A	G	15: 37,989,589 (GRCm39)	S2076P	probably damaging	Het
Vmn2r59	C	T	7: 41,695,570 (GRCm39)	V281I	probably benign	Het
Vwa3b	T	C	1: 37,182,150 (GRCm39)		probably benign	Het
Zfp384	C	T	6: 125,013,612 (GRCm39)	P544L	probably benign	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
R1570:Erich6	UTSW	3	58,538,080 (GRCm39)	critical splice donor site	probably null
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
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'- CATAGGAAACGCTCATTGTGAATTCC -3'
(R):5'- ATCAGGCTGAACGCTGTGATG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CTGAACGCTGTGATGGCAGG -3'

Posted On

2014-11-12