Mutagenetix > Incidental Mutation

Incidental Mutation 'R4033:Erich6b'

313604

Institutional Source

Beutler Lab

Gene Symbol

Erich6b

Ensembl Gene

ENSMUSG00000022002

Gene Name

glutamate rich 6B

Synonyms

Gm46471, 4930564B18Rik

MMRRC Submission

040961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R4033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75879689-75934157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75896207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 31 (N31I)

Ref Sequence

ENSEMBL: ENSMUSP00000022579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022579]

AlphaFold

A0A571BEV3

Predicted Effect

probably benign
Transcript: ENSMUST00000022579
AA Change: N31I

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022579
Gene: ENSMUSG00000022002
AA Change: N31I

Domain	Start	End	E-Value	Type
low complexity region	50	77	N/A	INTRINSIC
low complexity region	129	145	N/A	INTRINSIC
low complexity region	204	216	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	C	G	8: 44,079,710 (GRCm39)	M171I	probably benign	Het
Als2	G	T	1: 59,235,400 (GRCm39)	S761R	probably benign	Het
Ankrd63	C	A	2: 118,533,412 (GRCm39)		probably benign	Het
Brf1	G	A	12: 112,943,352 (GRCm39)	T166M	probably damaging	Het
Car9	T	C	4: 43,508,624 (GRCm39)	V131A	possibly damaging	Het
Cerk	T	G	15: 86,039,228 (GRCm39)	H221P	possibly damaging	Het
Cfap69	A	T	5: 5,654,389 (GRCm39)	I458N	possibly damaging	Het
Chil4	T	C	3: 106,121,765 (GRCm39)	Y28C	probably damaging	Het
Cracd	A	G	5: 77,006,312 (GRCm39)	N891S	unknown	Het
Dmxl1	A	G	18: 49,984,498 (GRCm39)	T165A	possibly damaging	Het
Fgf17	G	T	14: 70,878,966 (GRCm39)		probably benign	Het
Fhit	A	T	14: 10,751,671 (GRCm38)		probably benign	Het
Fnip1	A	T	11: 54,393,297 (GRCm39)	I578L	probably benign	Het
Gm17641	C	T	3: 68,777,146 (GRCm39)	R36W	probably damaging	Het
Gprin2	A	T	14: 33,916,635 (GRCm39)	D378E	probably benign	Het
Grhl3	T	A	4: 135,300,735 (GRCm39)	M1L	probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Ifih1	G	A	2: 62,465,534 (GRCm39)	S212L	probably benign	Het
Iqck	T	C	7: 118,540,827 (GRCm39)	I242T	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Lsm14b	A	G	2: 179,673,309 (GRCm39)	K195E	probably benign	Het
Mical1	G	A	10: 41,357,172 (GRCm39)	V326I	probably benign	Het
Mtnr1b	A	T	9: 15,774,830 (GRCm39)	N76K	probably damaging	Het
Nalcn	T	C	14: 123,837,401 (GRCm39)		probably benign	Het
Nop14	T	C	5: 34,807,861 (GRCm39)	D367G	probably benign	Het
Nrxn3	T	C	12: 89,499,771 (GRCm39)	C721R	probably damaging	Het
Or51e1	C	T	7: 102,358,697 (GRCm39)	T77I	probably damaging	Het
Prr27	G	T	5: 87,991,164 (GRCm39)	E259*	probably null	Het
Psmg3	G	A	5: 139,812,086 (GRCm39)	P5S	probably damaging	Het
Pxdn	A	G	12: 30,053,224 (GRCm39)	T1134A	probably benign	Het
Rbm28	T	C	6: 29,159,668 (GRCm39)	N120S	probably damaging	Het
Reg3b	A	T	6: 78,350,192 (GRCm39)	K157N	possibly damaging	Het
Rlf	T	G	4: 121,004,540 (GRCm39)	Q1480P	probably damaging	Het
Slc16a12	A	T	19: 34,652,567 (GRCm39)	L193Q	probably damaging	Het
Smo	G	A	6: 29,759,917 (GRCm39)	R672H	probably damaging	Het
Smyd4	A	G	11: 75,240,580 (GRCm39)	D25G	probably benign	Het
Sorbs2	C	G	8: 46,228,632 (GRCm39)	D264E	probably damaging	Het
Tctn3	G	T	19: 40,585,767 (GRCm39)	Q593K	probably benign	Het
Tdrd9	A	T	12: 111,958,973 (GRCm39)	I136L	possibly damaging	Het
Tshz3	G	A	7: 36,470,009 (GRCm39)	S666N	possibly damaging	Het
Ubn1	C	T	16: 4,882,475 (GRCm39)	T69M	probably damaging	Het
Unk	A	T	11: 115,944,353 (GRCm39)	H368L	probably benign	Het
Zan	A	T	5: 137,436,122 (GRCm39)	L2051*	probably null	Het

Other mutations in Erich6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Erich6b	APN	14	75,896,208 (GRCm39)	missense	probably benign	0.01
R0631:Erich6b	UTSW	14	75,896,449 (GRCm39)	splice site	probably benign
R2065:Erich6b	UTSW	14	75,896,351 (GRCm39)	missense	probably benign	0.06
R2173:Erich6b	UTSW	14	75,896,332 (GRCm39)	missense	probably benign	0.27
R5009:Erich6b	UTSW	14	75,902,596 (GRCm39)	missense	possibly damaging	0.66
R5533:Erich6b	UTSW	14	75,896,274 (GRCm39)	missense	possibly damaging	0.92
R5712:Erich6b	UTSW	14	75,896,340 (GRCm39)	missense	possibly damaging	0.81
R7434:Erich6b	UTSW	14	75,901,024 (GRCm39)	missense	probably benign	0.00
R9358:Erich6b	UTSW	14	75,902,668 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- CATCATATTTGGCGGGCTTG -3'
(R):5'- GACTCTTCCATGCATGTTGC -3'

Sequencing Primer
(F):5'- ATCATATTTGGCGGGCTTGTACTTAC -3'
(R):5'- GTTGCTTGAAACAGATACACTTCCC -3'

Posted On

2015-04-30