Mutagenetix > Incidental Mutation

Incidental Mutation 'R2325:Gm8439'

244880

Institutional Source

Beutler Lab

Gene Symbol

Gm8439

Ensembl Gene

ENSMUSG00000091297

Gene Name

predicted gene 8439

Synonyms

MMRRC Submission

040316-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R2325 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120445943-120466870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120446048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 16 (E16G)

Ref Sequence

ENSEMBL: ENSMUSP00000130196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171482]

AlphaFold

G3UWA7

Predicted Effect

unknown
Transcript: ENSMUST00000171482
AA Change: E16G

SMART Domains

Protein: ENSMUSP00000130196
Gene: ENSMUSG00000091297
AA Change: E16G

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	C	13: 4,573,295 (GRCm39)	T7A	probably benign	Het
Atoh7	C	A	10: 62,935,924 (GRCm39)		probably benign	Het
Atp2b1	C	T	10: 98,854,757 (GRCm39)	Q219*	probably null	Het
B3galt2	A	G	1: 143,522,926 (GRCm39)	D354G	probably benign	Het
Cdh9	A	G	15: 16,778,286 (GRCm39)	R34G	probably benign	Het
Cyp4x1	A	T	4: 114,981,576 (GRCm39)	C126S	probably benign	Het
Dse	A	T	10: 34,060,043 (GRCm39)	S21T	probably benign	Het
Ell2	T	A	13: 75,917,745 (GRCm39)	H558Q	probably damaging	Het
Elp1	A	T	4: 56,784,622 (GRCm39)	M457K	probably benign	Het
Esco2	A	T	14: 66,064,027 (GRCm39)		probably null	Het
Fam170a	A	G	18: 50,414,917 (GRCm39)	K188E	possibly damaging	Het
Gin1	A	C	1: 97,720,286 (GRCm39)	Y516S	probably damaging	Het
Gtf2b	A	G	3: 142,485,851 (GRCm39)	T176A	probably damaging	Het
Kcnh6	C	T	11: 105,924,661 (GRCm39)	S822F	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lrp8	A	T	4: 107,721,206 (GRCm39)	D602V	probably benign	Het
Med12l	A	G	3: 59,139,875 (GRCm39)	T817A	probably damaging	Het
Mroh9	A	C	1: 162,854,099 (GRCm39)		probably null	Het
N4bp1	T	C	8: 87,575,088 (GRCm39)	I736V	probably damaging	Het
Nebl	T	C	2: 17,397,827 (GRCm39)	K490E	possibly damaging	Het
P2ry1	A	T	3: 60,910,999 (GRCm39)	K46M	probably damaging	Het
Ppp1r37	A	T	7: 19,266,609 (GRCm39)	L426H	probably damaging	Het
Prkci	T	A	3: 31,085,217 (GRCm39)		probably null	Het
Prss35	G	A	9: 86,638,357 (GRCm39)	G376R	probably damaging	Het
Scube2	C	G	7: 109,443,161 (GRCm39)	C226S	probably damaging	Het
Slc26a5	T	G	5: 22,024,692 (GRCm39)	Y469S	probably damaging	Het
Stil	T	A	4: 114,889,904 (GRCm39)	D797E	probably benign	Het
Thbs2	A	T	17: 14,910,551 (GRCm39)		probably null	Het
Tmem132e	C	A	11: 82,325,341 (GRCm39)	L114M	probably damaging	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Vmn1r173	T	A	7: 23,402,537 (GRCm39)	C257*	probably null	Het
Zc3h15	G	A	2: 83,483,783 (GRCm39)	G53S	probably damaging	Het
Zfp462	A	C	4: 55,013,712 (GRCm39)	I1893L	probably benign	Het

Other mutations in Gm8439

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02153:Gm8439	APN	4	120,466,787 (GRCm39)	missense	unknown
R6419:Gm8439	UTSW	4	120,466,755 (GRCm39)	missense	unknown
R8559:Gm8439	UTSW	4	120,458,008 (GRCm39)	missense	unknown
R9545:Gm8439	UTSW	4	120,445,957 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTCACATTCCAGGCAAGAGAGG -3'
(R):5'- CAAACAGGGTTGTCCACAGC -3'

Sequencing Primer
(F):5'- TTCCAGGCAAGAGAGGAACAGC -3'
(R):5'- GGTTAGGAGACTCACTAACTCCTG -3'

Posted On

2014-10-30