Mutagenetix > Incidental Mutation

Incidental Mutation 'R2284:Gm5830'

243233

Institutional Source

Beutler Lab

Gene Symbol

Gm5830

Ensembl Gene

ENSMUSG00000072978

Gene Name

predicted pseudogene 5830

Synonyms

MMRRC Submission

040283-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

R2284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78945354-78945796 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 78945415 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: ENSMUST00000049117

SMART Domains

Protein: ENSMUSP00000042530
Gene: ENSMUSG00000072978

Domain	Start	End	E-Value	Type
PDB:2A4D\|A	7	105	3e-56	PDB
SCOP:d1jatb_	10	103	1e-30	SMART
Blast:UBCc	15	105	5e-52	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189296

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	C	T	16: 22,976,237 (GRCm39)	Q213*	probably null	Het
Adsl	C	T	15: 80,848,096 (GRCm39)	P278L	probably damaging	Het
Bcas2	T	C	3: 103,085,678 (GRCm39)	S187P	probably damaging	Het
Ccdc88a	T	C	11: 29,444,099 (GRCm39)		probably null	Het
Cryzl1	C	T	16: 91,491,193 (GRCm39)		probably benign	Het
Csl	T	A	10: 99,594,321 (GRCm39)	D248V	possibly damaging	Het
Dip2a	A	C	10: 76,149,027 (GRCm39)	V247G	probably benign	Het
Fat2	T	C	11: 55,173,186 (GRCm39)	D2509G	probably damaging	Het
Gldn	G	A	9: 54,193,849 (GRCm39)	W14*	probably null	Het
Gm5698	C	T	1: 31,016,964 (GRCm39)	R29Q	possibly damaging	Het
Gtf2ird2	A	G	5: 134,246,025 (GRCm39)	D761G	probably benign	Het
Hdac10	T	C	15: 89,011,607 (GRCm39)	Q159R	probably benign	Het
Hhatl	T	C	9: 121,618,648 (GRCm39)	Y118C	probably damaging	Het
Iho1	C	T	9: 108,298,672 (GRCm39)	E49K	probably damaging	Het
Klrd1	A	G	6: 129,575,344 (GRCm39)	H127R	probably benign	Het
Krtap31-1	C	T	11: 99,799,081 (GRCm39)	Q95*	probably null	Het
Map2	C	T	1: 66,453,227 (GRCm39)	P548S	probably damaging	Het
Mki67	A	G	7: 135,301,674 (GRCm39)	V1120A	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr12	T	A	15: 12,245,097 (GRCm39)	M204K	probably damaging	Het
Muc6	T	C	7: 141,217,837 (GRCm39)	T2279A	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nlrp1b	A	G	11: 71,047,110 (GRCm39)	S1084P	probably benign	Het
Nr2f1	C	A	13: 78,343,581 (GRCm39)	V81F	probably damaging	Het
Nrxn3	T	A	12: 89,477,135 (GRCm39)	N803K	probably damaging	Het
Or5l14	A	G	2: 87,793,137 (GRCm39)	L33P	probably damaging	Het
Ptpre	A	G	7: 135,271,510 (GRCm39)	H375R	probably benign	Het
Tsc1	G	A	2: 28,555,109 (GRCm39)	V200I	possibly damaging	Het
Vmn1r42	A	G	6: 89,821,681 (GRCm39)	I296T	probably benign	Het
Vmn1r67	A	T	7: 10,181,600 (GRCm39)	H288L	probably damaging	Het
Vmn2r45	A	T	7: 8,488,765 (GRCm39)	N88K	probably benign	Het
Wt1	A	G	2: 105,002,666 (GRCm39)	T511A	probably benign	Het

Other mutations in Gm5830

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4725:Gm5830	UTSW	1	78,945,549 (GRCm39)	intron	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- AAGACTGAGTGGAGCTTCCTC -3'
(R):5'- TGGACCTCCACGAACAATCTATG -3'

Sequencing Primer
(F):5'- CTCCGGTACTTTGAGGTCTACAG -3'
(R):5'- CCTTAAGATAGAGTGTGGGCC -3'

Posted On

2014-10-16