Mutagenetix > Incidental Mutations

Incidental Mutation 'R3764:Gm17689'

271815

Institutional Source

Beutler Lab

Gene Symbol

Gm17689

Ensembl Gene

ENSMUSG00000091248

Gene Name

predicted gene, 17689

Synonyms

MMRRC Submission

040741-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R3764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36581278-36582635 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 36581818 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126891 (fasta)

Predicted Effect

probably null
Transcript: ENSMUST00000170030

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.3%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	G	A	17: 13,846,589	A648T	probably benign	Het
Cadm3	C	T	1: 173,346,497	V50I	probably damaging	Het
Cubn	T	A	2: 13,331,585	I2477F	possibly damaging	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dhx15	G	A	5: 52,166,732	P406L	probably benign	Het
Eif4e3	C	T	6: 99,640,625	R95Q	probably damaging	Het
Fam57b	T	C	7: 126,827,513	I36T	probably damaging	Het
Fmo5	T	C	3: 97,645,717	I327T	probably damaging	Het
Gckr	T	A	5: 31,326,498		probably benign	Het
Ghrhr	T	C	6: 55,380,771	V129A	probably damaging	Het
Gm16432	A	T	1: 178,113,132	T687S	unknown	Het
Gsdma	A	T	11: 98,670,767	N191I	probably damaging	Het
Hadha	T	C	5: 30,144,209	K135E	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Lrp2	T	C	2: 69,496,336	E1797G	probably damaging	Het
Ly9	T	C	1: 171,594,144	Y513C	possibly damaging	Het
Nphp4	C	T	4: 152,538,017		probably benign	Het
Pcm1	A	G	8: 41,330,882	E2005G	probably damaging	Het
Spsb2	T	C	6: 124,809,555	Y84H	probably damaging	Het
Try10	C	T	6: 41,356,524	R68C	probably benign	Het
Ube3c	ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 29,637,586		probably benign	Het
Vps50	A	T	6: 3,588,063	I679F	probably damaging	Het
Wdr81	G	A	11: 75,452,803	T546I	probably damaging	Het
Zcchc6	T	A	13: 59,800,380	E307V	probably damaging	Het
Zfp40	T	A	17: 23,177,127	H94L	possibly damaging	Het

Other mutations in Gm17689

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Gm17689	APN	9	36581363	missense	probably benign	0.00
IGL01693:Gm17689	APN	9	36581366	missense	probably benign	0.31
IGL02268:Gm17689	APN	9	36581870	missense	possibly damaging	0.71
IGL03191:Gm17689	APN	9	36581402	missense	probably benign	0.00
PIT4354001:Gm17689	UTSW	9	36581301	missense	possibly damaging	0.71
R0401:Gm17689	UTSW	9	36582628	missense	unknown
R0743:Gm17689	UTSW	9	36581301	missense	probably benign	0.03
R1483:Gm17689	UTSW	9	36581324	missense	probably benign	0.00
R1701:Gm17689	UTSW	9	36581818	critical splice donor site	probably benign
R2258:Gm17689	UTSW	9	36581865	missense	probably benign	0.03
R5143:Gm17689	UTSW	9	36581904	missense	probably benign	0.31
R6783:Gm17689	UTSW	9	36581335	splice site	probably null
R7013:Gm17689	UTSW	9	36582558	missense	unknown
R7014:Gm17689	UTSW	9	36582558	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCTCTTAGATAGCCATGAATACCAC -3'
(R):5'- ATGCTTGAAGCCGACCTTGAG -3'

Sequencing Primer
(F):5'- GCCATGAATACCACTAAAAGAACCTG -3'
(R):5'- GCTTGAAGCCGACCTTGAGTAAAC -3'

Posted On

2015-03-25