Mutagenetix > Incidental Mutations

Incidental Mutation 'R6928:Gm4858'

539829

Institutional Source

Beutler Lab

Gene Symbol

Gm4858

Ensembl Gene

ENSMUSG00000096879

Gene Name

predicted gene 4858

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R6928 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93068823-93075505 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93073960 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 95 (C95Y)

Ref Sequence

ENSEMBL: ENSMUSP00000141677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179064] [ENSMUST00000194595] [ENSMUST00000195847]

Predicted Effect

probably damaging
Transcript: ENSMUST00000179064
AA Change: C21Y

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

SMART Domains

Protein: ENSMUSP00000136458
Gene: ENSMUSG00000096879
AA Change: C21Y

Domain	Start	End	E-Value	Type
BTB	62	161	1.73e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000194595
AA Change: C21Y

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

SMART Domains

Protein: ENSMUSP00000141574
Gene: ENSMUSG00000096879
AA Change: C21Y

Domain	Start	End	E-Value	Type
BTB	62	161	1.73e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000195847
AA Change: C95Y

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

SMART Domains

Protein: ENSMUSP00000141677
Gene: ENSMUSG00000096879
AA Change: C95Y

Domain	Start	End	E-Value	Type
Blast:MATH	1	78	5e-51	BLAST
SCOP:d1czya1	3	99	3e-12	SMART
BTB	136	235	1.1e-26	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.5%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,479,272	D215G	possibly damaging	Het
Asb3	A	T	11: 30,998,326	M40L	probably damaging	Het
Aspg	G	A	12: 112,126,689	V547M	possibly damaging	Het
Aspm	T	A	1: 139,480,206	L2277*	probably null	Het
Atp7b	A	G	8: 21,994,812	S1295P	probably benign	Het
Cdca2	A	G	14: 67,705,744	S199P	probably damaging	Het
Cdh1	A	G	8: 106,661,010	E514G	possibly damaging	Het
Cenpk	G	T	13: 104,228,992		probably benign	Het
Col6a5	C	A	9: 105,939,919	V398L	unknown	Het
Colec10	A	T	15: 54,462,606	K277N	probably damaging	Het
Cryzl2	T	G	1: 157,470,787	S249A	probably benign	Het
Cspg4	T	A	9: 56,897,880	Y1992N	possibly damaging	Het
Drd3	G	T	16: 43,821,320	R333L	probably benign	Het
Espl1	C	T	15: 102,298,907	R269C	probably benign	Het
Esr2	C	T	12: 76,165,478	C188Y	probably damaging	Het
Focad	A	G	4: 88,348,875	D1041G	unknown	Het
Frem3	T	C	8: 80,611,282	F68S	possibly damaging	Het
Gapdh	A	G	6: 125,162,671	V212A	probably damaging	Het
Gm10471	A	G	5: 26,085,588		probably null	Het
Gm3854	T	C	7: 6,354,267	Y360H	probably damaging	Het
Gm4778	T	A	3: 94,266,548	C288S	probably benign	Het
Gzmb	T	C	14: 56,260,277	K169E	probably benign	Het
Hexdc	T	A	11: 121,212,054	F33I	possibly damaging	Het
Hsd3b6	T	C	3: 98,810,953	I32V	probably benign	Het
Jcad	T	C	18: 4,673,372	V378A	probably benign	Het
Kcnmb2	T	C	3: 32,199,041	S177P	probably benign	Het
Lrriq1	A	T	10: 103,214,939	S651T	possibly damaging	Het
Map3k2	T	C	18: 32,207,540		probably null	Het
Mib1	T	G	18: 10,802,282	S870A	probably benign	Het
Moap1	T	A	12: 102,742,612	N226I	probably damaging	Het
Moxd1	T	A	10: 24,300,288	N547K	probably damaging	Het
Mtmr9	A	G	14: 63,543,593	V16A	probably benign	Het
Nme1	T	C	11: 93,959,403	Y151C	probably damaging	Het
Nwd1	T	C	8: 72,682,025	F879L	probably benign	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr1451	A	G	19: 12,999,838	N284S	probably damaging	Het
Olfr1454	A	T	19: 13,063,984	H191L	probably benign	Het
Olfr209	C	A	16: 59,361,463	G252C	probably damaging	Het
Olfr655	A	T	7: 104,596,589	Y197*	probably null	Het
Olfr930	T	C	9: 38,930,566	Y132H	probably damaging	Het
Olfr935	T	C	9: 38,994,632	M268V	probably benign	Het
Pcdhb21	A	G	18: 37,514,421	E201G	probably damaging	Het
Plscr1	T	C	9: 92,269,951	V301A	possibly damaging	Het
Psg28	A	T	7: 18,423,078	S411T	possibly damaging	Het
Rif1	T	C	2: 52,095,961	W653R	probably damaging	Het
Rnd3	T	A	2: 51,132,506	I175L	probably benign	Het
Rtn4	A	G	11: 29,706,791	E199G	possibly damaging	Het
Sgpp1	T	C	12: 75,716,570	Y279C	probably damaging	Het
Slc2a13	A	G	15: 91,276,179	I524T	probably damaging	Het
Spg11	C	T	2: 122,069,904	V1556I	probably benign	Het
Srebf2	C	T	15: 82,203,723	R215*	probably null	Het
Tmem19	T	C	10: 115,347,274	N147S	possibly damaging	Het
Tpr	T	C	1: 150,408,785	S408P	possibly damaging	Het
Trav13d-4	C	T	14: 53,073,161	T53I	probably damaging	Het
Trf	T	A	9: 103,222,108	R168W	possibly damaging	Het
Trim11	A	G	11: 58,988,843	K273R	probably damaging	Het
Tsacc	T	A	3: 88,282,940	M68L	probably benign	Het
Ttn	T	A	2: 76,754,525	M22110L	probably benign	Het
Zfp160	G	T	17: 21,041,462	G104V	probably benign	Het
Zranb1	G	A	7: 132,966,594	R301H	possibly damaging	Het

Other mutations in Gm4858

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02370:Gm4858	APN	3	93074047	missense	possibly damaging	0.61
R1872:Gm4858	UTSW	3	93074422	missense	probably damaging	1.00
R1992:Gm4858	UTSW	3	93074037	missense	probably benign	0.00
R3799:Gm4858	UTSW	3	93074086	missense	probably damaging	1.00
R5045:Gm4858	UTSW	3	93074217	missense	probably damaging	1.00
R5235:Gm4858	UTSW	3	93074086	missense	probably damaging	1.00
R5819:Gm4858	UTSW	3	93073732	missense	probably damaging	1.00
R6937:Gm4858	UTSW	3	93074110	missense	probably benign	0.14
R6956:Gm4858	UTSW	3	93073972	missense	possibly damaging	0.57
R7228:Gm4858	UTSW	3	93073686	missense	possibly damaging	0.96
R7273:Gm4858	UTSW	3	93074168	missense	probably damaging	1.00
R7308:Gm4858	UTSW	3	93074565	missense	probably benign
R7704:Gm4858	UTSW	3	93074445	missense	probably benign
Z1176:Gm4858	UTSW	3	93074055	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTTTGGGCAAAGTTCGAGG -3'
(R):5'- TCAAACATGGCTCTGAAAACTG -3'

Sequencing Primer
(F):5'- CGAGGTTTGTATCTTAAATGCCAAGG -3'
(R):5'- CTGCCAGGATGACCTTGTGAG -3'

Posted On

2018-11-06