Mutagenetix > Incidental Mutation

Incidental Mutation 'R5275:Gm5117'

403888

Institutional Source

Beutler Lab

Gene Symbol

Gm5117

Ensembl Gene

ENSMUSG00000093862

Gene Name

predicted gene 5117

Synonyms

MMRRC Submission

042838-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.896) question?

Stock #

R5275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32227236-32229788 bp(-) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

T to A at 32229595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178878

SMART Domains

Protein: ENSMUSP00000137046
Gene: ENSMUSG00000093862

Domain	Start	End	E-Value	Type
low complexity region	147	158	N/A	INTRINSIC
low complexity region	608	627	N/A	INTRINSIC
Pfam:Met_10	666	799	1.5e-9	PFAM
Pfam:UPF0020	672	770	4e-8	PFAM
Pfam:Methyltransf_18	687	815	5e-10	PFAM
Pfam:Methyltransf_31	688	801	1.5e-10	PFAM
Pfam:Methyltransf_26	688	803	1e-8	PFAM
Pfam:Methyltransf_15	688	842	5e-48	PFAM

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,092,856 (GRCm39)	R155H	probably benign	Het
Abcc1	C	T	16: 14,284,050 (GRCm39)	L1222F	probably damaging	Het
Alpl	T	C	4: 137,476,919 (GRCm39)	T245A	probably benign	Het
Ank2	T	C	3: 126,825,832 (GRCm39)	H378R	probably damaging	Het
Apold1	G	T	6: 134,960,763 (GRCm39)	L72F	probably damaging	Het
Arhgef1	G	A	7: 24,618,777 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,073,544 (GRCm39)	R10G	possibly damaging	Het
Becn2	A	G	1: 175,748,336 (GRCm39)	H134R	probably benign	Het
Ccr10	C	T	11: 101,065,111 (GRCm39)	V140M	possibly damaging	Het
Cep135	T	A	5: 76,741,051 (GRCm39)	H42Q	possibly damaging	Het
Chd6	A	G	2: 160,811,283 (GRCm39)	L1440P	probably benign	Het
Clca3a2	A	G	3: 144,519,340 (GRCm39)	S279P	probably damaging	Het
Cma1	A	T	14: 56,179,157 (GRCm39)	I233N	probably damaging	Het
Dnajc16	T	C	4: 141,495,239 (GRCm39)	E493G	possibly damaging	Het
Dst	T	C	1: 34,219,229 (GRCm39)	S1890P	probably benign	Het
Ears2	T	C	7: 121,647,421 (GRCm39)	R288G	probably damaging	Het
Elovl4	G	A	9: 83,662,714 (GRCm39)	P273L	possibly damaging	Het
Fryl	T	C	5: 73,270,134 (GRCm39)	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,280,751 (GRCm39)		noncoding transcript	Het
H2-T5	T	C	17: 36,472,567 (GRCm39)		probably null	Het
Lmtk3	G	A	7: 45,440,722 (GRCm39)	D243N	probably damaging	Het
Lsm7	T	C	10: 80,690,454 (GRCm39)	E32G	probably damaging	Het
Opa1	C	T	16: 29,430,397 (GRCm39)	T451I	probably damaging	Het
Or2bd2	A	T	7: 6,443,015 (GRCm39)	T39S	probably benign	Het
Or4f15	T	A	2: 111,814,174 (GRCm39)	I82F	probably damaging	Het
Or4k1	T	A	14: 50,377,953 (GRCm39)	I48F	probably benign	Het
Pcdh12	T	A	18: 38,417,154 (GRCm39)		probably benign	Het
Perm1	T	C	4: 156,301,975 (GRCm39)	L173P	probably benign	Het
Plvap	T	C	8: 71,964,314 (GRCm39)	Q16R	probably benign	Het
Ppan	T	A	9: 20,801,069 (GRCm39)	Y115*	probably null	Het
Prb1c	T	G	6: 132,338,840 (GRCm39)	Q126P	unknown	Het
Prl7d1	A	T	13: 27,893,230 (GRCm39)	V227D	probably damaging	Het
Prss54	T	C	8: 96,291,106 (GRCm39)	T165A	probably damaging	Het
Psrc1	A	G	3: 108,293,675 (GRCm39)	I195V	probably benign	Het
Ptpn20	A	G	14: 33,353,149 (GRCm39)	H296R	probably benign	Het
Rergl	A	G	6: 139,478,819 (GRCm39)		probably null	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Scfd1	A	T	12: 51,462,372 (GRCm39)	H409L	probably benign	Het
Serpina3c	T	C	12: 104,114,637 (GRCm39)	E333G	probably damaging	Het
Serpinb6c	A	G	13: 34,077,800 (GRCm39)	F190S	probably damaging	Het
Slc24a5	C	T	2: 124,927,781 (GRCm39)	T360I	probably benign	Het
Snx6	T	C	12: 54,830,807 (GRCm39)	H51R	probably damaging	Het
Sorl1	A	T	9: 41,942,198 (GRCm39)	V1009D	probably benign	Het
Tdh	T	C	14: 63,733,558 (GRCm39)	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,018,346 (GRCm39)	L1255*	probably null	Het
Tlk1	C	T	2: 70,582,549 (GRCm39)		probably benign	Het
Tnc	G	A	4: 63,882,967 (GRCm39)	Q1885*	probably null	Het
Vcl	T	C	14: 21,060,146 (GRCm39)	V595A	probably damaging	Het
Vmn1r84	A	T	7: 12,095,741 (GRCm39)	N305K	probably benign	Het
Zbtb2	T	C	10: 4,318,508 (GRCm39)	K506R	probably damaging	Het

Other mutations in Gm5117

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01022:Gm5117	APN	8	32,228,515 (GRCm39)	exon	noncoding transcript
IGL01362:Gm5117	APN	8	32,227,947 (GRCm39)	exon	noncoding transcript
IGL01972:Gm5117	APN	8	32,227,787 (GRCm39)	exon	noncoding transcript
IGL02100:Gm5117	APN	8	32,227,412 (GRCm39)	exon	noncoding transcript
IGL02339:Gm5117	APN	8	32,228,254 (GRCm39)	exon	noncoding transcript
IGL02366:Gm5117	APN	8	32,227,887 (GRCm39)	exon	noncoding transcript
IGL02505:Gm5117	APN	8	32,228,344 (GRCm39)	exon	noncoding transcript
IGL02698:Gm5117	APN	8	32,229,767 (GRCm39)	exon	noncoding transcript
IGL03310:Gm5117	APN	8	32,228,836 (GRCm39)	exon	noncoding transcript
IGL02835:Gm5117	UTSW	8	32,227,198 (GRCm39)	unclassified	noncoding transcript
R1816:Gm5117	UTSW	8	32,228,986 (GRCm39)	exon	noncoding transcript
R2157:Gm5117	UTSW	8	32,228,222 (GRCm39)	exon	noncoding transcript
R2353:Gm5117	UTSW	8	32,229,223 (GRCm39)	exon	noncoding transcript
R2404:Gm5117	UTSW	8	32,227,306 (GRCm39)	exon	noncoding transcript
R2408:Gm5117	UTSW	8	32,227,306 (GRCm39)	exon	noncoding transcript
R2409:Gm5117	UTSW	8	32,227,306 (GRCm39)	exon	noncoding transcript
R2510:Gm5117	UTSW	8	32,228,383 (GRCm39)	exon	noncoding transcript
R4686:Gm5117	UTSW	8	32,229,284 (GRCm39)	exon	noncoding transcript
R4953:Gm5117	UTSW	8	32,228,608 (GRCm39)	exon	noncoding transcript
R5244:Gm5117	UTSW	8	32,228,305 (GRCm39)	exon	noncoding transcript
R5329:Gm5117	UTSW	8	32,227,910 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- TTTCTCCAGGATTCCCGAAC -3'
(R):5'- TGGCCAAAATGCTGCTCTTC -3'

Sequencing Primer
(F):5'- AGGATTCCCGAACCATTTCATC -3'
(R):5'- CTGCTCTTCATTGAAGAACACGAGG -3'

Posted On

2016-07-22