Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02556:1700017N19Rik'

298525

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700017N19Rik

Ensembl Gene

ENSMUSG00000056912

Gene Name

RIKEN cDNA 1700017N19 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL02556

Quality Score

Status

Chromosome

Chromosomal Location

100590484-100618401 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 100610717 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151731 (fasta)

Predicted Effect

probably null
Transcript: ENSMUST00000041162

Predicted Effect

probably benign
Transcript: ENSMUST00000186825

Predicted Effect

probably benign
Transcript: ENSMUST00000187119

Predicted Effect

probably null
Transcript: ENSMUST00000188736

Predicted Effect

probably benign
Transcript: ENSMUST00000190386

Predicted Effect

probably null
Transcript: ENSMUST00000190708

Predicted Effect

probably null
Transcript: ENSMUST00000191033

Predicted Effect

probably benign
Transcript: ENSMUST00000191336

Predicted Effect

probably null
Transcript: ENSMUST00000218464

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,972,527	D376G	probably damaging	Het
Adgrb1	C	T	15: 74,586,805	T1252I	probably damaging	Het
Bhmt	T	C	13: 93,637,500		probably benign	Het
Ckap5	T	C	2: 91,594,841		probably benign	Het
Clcn4	T	C	7: 7,296,066	T37A	probably benign	Het
Cnmd	C	T	14: 79,661,960	V18I	probably benign	Het
Cryl1	C	T	14: 57,276,021	V248M	probably benign	Het
D830039M14Rik	C	T	10: 61,475,483		probably benign	Het
Dido1	T	C	2: 180,689,335	T107A	possibly damaging	Het
Efna5	C	A	17: 62,651,028	V78F	probably damaging	Het
Eml1	A	G	12: 108,537,366	I741V	probably benign	Het
Gfap	A	G	11: 102,896,954	L55P	probably damaging	Het
Gm884	A	G	11: 103,613,283	S2620P	probably benign	Het
Itga6	A	G	2: 71,838,683	I606V	probably benign	Het
Kif2c	G	T	4: 117,162,605	D579E	probably damaging	Het
Lef1	T	C	3: 131,194,793		probably null	Het
Lrrc1	T	A	9: 77,435,122	I357L	probably benign	Het
Map3k20	T	A	2: 72,371,895	F157I	probably damaging	Het
Naga	A	T	15: 82,330,136	N391K	probably damaging	Het
Ncaph	T	C	2: 127,126,105		probably benign	Het
Olfr103	T	A	17: 37,336,996	M79L	probably benign	Het
Olfr290	T	G	7: 84,916,359	Y193*	probably null	Het
Olfr6	T	A	7: 106,956,391	I182F	possibly damaging	Het
Olfr744	C	A	14: 50,618,728	Q169K	probably benign	Het
Olfr769	T	G	10: 129,112,035	Y130S	probably damaging	Het
Olfr972	T	A	9: 39,873,610	C112S	possibly damaging	Het
Pappa	C	A	4: 65,156,626	D472E	possibly damaging	Het
Pdxk	G	A	10: 78,451,485	L81F	probably damaging	Het
Pkhd1	G	T	1: 20,310,710	T2635K	probably damaging	Het
Psmb6	A	T	11: 70,526,422	H99L	possibly damaging	Het
Ptpn6	C	T	6: 124,728,660	G135E	probably benign	Het
Ptprz1	T	A	6: 22,972,845	D251E	probably benign	Het
Ralgapa1	A	G	12: 55,642,449	V1955A	possibly damaging	Het
Rsph4a	T	C	10: 33,905,152		probably benign	Het
Sh2d4b	T	C	14: 40,820,743	T359A	probably benign	Het
Sh3bp5l	A	G	11: 58,346,261	D348G	probably damaging	Het
Skint5	A	T	4: 113,940,735	M217K	probably damaging	Het
Slc30a6	T	C	17: 74,404,059	L49P	probably damaging	Het
Slc8a1	C	T	17: 81,648,744	M288I	probably benign	Het
Tmem127	C	A	2: 127,256,002		probably null	Het
Tnfrsf17	T	C	16: 11,313,947		probably benign	Het
Trak1	A	T	9: 121,448,901	N341I	probably damaging	Het
Ubr5	A	G	15: 38,002,448	I1453T	probably benign	Het
Wdr62	T	C	7: 30,245,284		probably null	Het
Xrn2	T	C	2: 147,038,296		probably benign	Het
Zscan10	C	T	17: 23,608,145	A144V	possibly damaging	Het

Other mutations in 1700017N19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01565:1700017N19Rik	APN	10	100603360	missense	probably damaging	1.00
IGL02159:1700017N19Rik	APN	10	100610665	missense	probably damaging	1.00
IGL02629:1700017N19Rik	APN	10	100609144	splice site	probably benign
IGL02692:1700017N19Rik	APN	10	100603548	missense	probably benign	0.05
IGL02962:1700017N19Rik	APN	10	100610593	splice site	probably null
R0145:1700017N19Rik	UTSW	10	100601921	missense	probably damaging	0.96
R0402:1700017N19Rik	UTSW	10	100609253	missense	probably damaging	0.99
R1514:1700017N19Rik	UTSW	10	100612867	missense	probably damaging	1.00
R1519:1700017N19Rik	UTSW	10	100603528	missense	probably damaging	0.98
R1680:1700017N19Rik	UTSW	10	100603528	missense	probably damaging	0.98
R1686:1700017N19Rik	UTSW	10	100612860	missense	probably damaging	0.97
R3951:1700017N19Rik	UTSW	10	100615296	splice site	probably benign
R3952:1700017N19Rik	UTSW	10	100615296	splice site	probably benign
R4423:1700017N19Rik	UTSW	10	100605633	missense	probably damaging	0.99
R4905:1700017N19Rik	UTSW	10	100612818	unclassified	probably null
R5507:1700017N19Rik	UTSW	10	100609233	missense	probably benign	0.02
R5898:1700017N19Rik	UTSW	10	100612900	missense	possibly damaging	0.56
R5898:1700017N19Rik	UTSW	10	100615208	missense	probably benign	0.20
R5977:1700017N19Rik	UTSW	10	100615244	missense	probably damaging	0.99
R7034:1700017N19Rik	UTSW	10	100609256	critical splice donor site	probably null
R7036:1700017N19Rik	UTSW	10	100609256	critical splice donor site	probably null
R7394:1700017N19Rik	UTSW	10	100609176	missense	probably benign	0.01
R7412:1700017N19Rik	UTSW	10	100612829	nonsense	probably null
R7870:1700017N19Rik	UTSW	10	100605643	missense	probably benign
R7953:1700017N19Rik	UTSW	10	100605643	missense	probably benign
Z1088:1700017N19Rik	UTSW	10	100605639	missense	probably damaging	1.00
Z1176:1700017N19Rik	UTSW	10	100612429	missense	probably damaging	0.98

Posted On

2015-04-16