Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.073) 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 (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041162] [ENSMUST00000186825] [ENSMUST00000187119] [ENSMUST00000188736] [ENSMUST00000190386] [ENSMUST00000190708] [ENSMUST00000191033] [ENSMUST00000191336] [ENSMUST00000218464]

AlphaFold

A0A087WPJ1

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 (GRCm38)	D376G	probably damaging	Het
Adgrb1	C	T	15: 74,586,805 (GRCm38)	T1252I	probably damaging	Het
Bhmt	T	C	13: 93,637,500 (GRCm38)		probably benign	Het
Ckap5	T	C	2: 91,594,841 (GRCm38)		probably benign	Het
Clcn4	T	C	7: 7,296,066 (GRCm38)	T37A	probably benign	Het
Cnmd	C	T	14: 79,661,960 (GRCm38)	V18I	probably benign	Het
Cryl1	C	T	14: 57,276,021 (GRCm38)	V248M	probably benign	Het
D830039M14Rik	C	T	10: 61,475,483 (GRCm38)		probably benign	Het
Dido1	T	C	2: 180,689,335 (GRCm38)	T107A	possibly damaging	Het
Efna5	C	A	17: 62,651,028 (GRCm38)	V78F	probably damaging	Het
Eml1	A	G	12: 108,537,366 (GRCm38)	I741V	probably benign	Het
Gfap	A	G	11: 102,896,954 (GRCm38)	L55P	probably damaging	Het
Itga6	A	G	2: 71,838,683 (GRCm38)	I606V	probably benign	Het
Kif2c	G	T	4: 117,162,605 (GRCm38)	D579E	probably damaging	Het
Lef1	T	C	3: 131,194,793 (GRCm38)		probably null	Het
Lrrc1	T	A	9: 77,435,122 (GRCm38)	I357L	probably benign	Het
Lrrc37	A	G	11: 103,613,283 (GRCm38)	S2620P	probably benign	Het
Map3k20	T	A	2: 72,371,895 (GRCm38)	F157I	probably damaging	Het
Naga	A	T	15: 82,330,136 (GRCm38)	N391K	probably damaging	Het
Ncaph	T	C	2: 127,126,105 (GRCm38)		probably benign	Het
Or11g2	C	A	14: 50,618,728 (GRCm38)	Q169K	probably benign	Het
Or12d13	T	A	17: 37,336,996 (GRCm38)	M79L	probably benign	Het
Or5ae1	T	G	7: 84,916,359 (GRCm38)	Y193*	probably null	Het
Or6b9	T	A	7: 106,956,391 (GRCm38)	I182F	possibly damaging	Het
Or6c2b	T	G	10: 129,112,035 (GRCm38)	Y130S	probably damaging	Het
Or8g55	T	A	9: 39,873,610 (GRCm38)	C112S	possibly damaging	Het
Pappa	C	A	4: 65,156,626 (GRCm38)	D472E	possibly damaging	Het
Pdxk	G	A	10: 78,451,485 (GRCm38)	L81F	probably damaging	Het
Pkhd1	G	T	1: 20,310,710 (GRCm38)	T2635K	probably damaging	Het
Psmb6	A	T	11: 70,526,422 (GRCm38)	H99L	possibly damaging	Het
Ptpn6	C	T	6: 124,728,660 (GRCm38)	G135E	probably benign	Het
Ptprz1	T	A	6: 22,972,845 (GRCm38)	D251E	probably benign	Het
Ralgapa1	A	G	12: 55,642,449 (GRCm38)	V1955A	possibly damaging	Het
Rsph4a	T	C	10: 33,905,152 (GRCm38)		probably benign	Het
Sh2d4b	T	C	14: 40,820,743 (GRCm38)	T359A	probably benign	Het
Sh3bp5l	A	G	11: 58,346,261 (GRCm38)	D348G	probably damaging	Het
Skint5	A	T	4: 113,940,735 (GRCm38)	M217K	probably damaging	Het
Slc30a6	T	C	17: 74,404,059 (GRCm38)	L49P	probably damaging	Het
Slc8a1	C	T	17: 81,648,744 (GRCm38)	M288I	probably benign	Het
Tmem127	C	A	2: 127,256,002 (GRCm38)		probably null	Het
Tnfrsf17	T	C	16: 11,313,947 (GRCm38)		probably benign	Het
Trak1	A	T	9: 121,448,901 (GRCm38)	N341I	probably damaging	Het
Ubr5	A	G	15: 38,002,448 (GRCm38)	I1453T	probably benign	Het
Wdr62	T	C	7: 30,245,284 (GRCm38)		probably null	Het
Xrn2	T	C	2: 147,038,296 (GRCm38)		probably benign	Het
Zscan10	C	T	17: 23,608,145 (GRCm38)	A144V	possibly damaging	Het

Other mutations in 1700017N19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01565:1700017N19Rik	APN	10	100,603,360 (GRCm38)	missense	probably damaging	1.00
IGL02159:1700017N19Rik	APN	10	100,610,665 (GRCm38)	missense	probably damaging	1.00
IGL02629:1700017N19Rik	APN	10	100,609,144 (GRCm38)	splice site	probably benign
IGL02692:1700017N19Rik	APN	10	100,603,548 (GRCm38)	missense	probably benign	0.05
IGL02962:1700017N19Rik	APN	10	100,610,593 (GRCm38)	splice site	probably null
R0145:1700017N19Rik	UTSW	10	100,601,921 (GRCm38)	missense	probably damaging	0.96
R0402:1700017N19Rik	UTSW	10	100,609,253 (GRCm38)	missense	probably damaging	0.99
R1514:1700017N19Rik	UTSW	10	100,612,867 (GRCm38)	missense	probably damaging	1.00
R1519:1700017N19Rik	UTSW	10	100,603,528 (GRCm38)	missense	probably damaging	0.98
R1680:1700017N19Rik	UTSW	10	100,603,528 (GRCm38)	missense	probably damaging	0.98
R1686:1700017N19Rik	UTSW	10	100,612,860 (GRCm38)	missense	probably damaging	0.97
R3951:1700017N19Rik	UTSW	10	100,615,296 (GRCm38)	splice site	probably benign
R3952:1700017N19Rik	UTSW	10	100,615,296 (GRCm38)	splice site	probably benign
R4423:1700017N19Rik	UTSW	10	100,605,633 (GRCm38)	missense	probably damaging	0.99
R4905:1700017N19Rik	UTSW	10	100,612,818 (GRCm38)	splice site	probably null
R5507:1700017N19Rik	UTSW	10	100,609,233 (GRCm38)	missense	probably benign	0.02
R5898:1700017N19Rik	UTSW	10	100,615,208 (GRCm38)	missense	probably benign	0.20
R5898:1700017N19Rik	UTSW	10	100,612,900 (GRCm38)	missense	possibly damaging	0.56
R5977:1700017N19Rik	UTSW	10	100,615,244 (GRCm38)	missense	probably damaging	0.99
R7034:1700017N19Rik	UTSW	10	100,609,256 (GRCm38)	critical splice donor site	probably null
R7036:1700017N19Rik	UTSW	10	100,609,256 (GRCm38)	critical splice donor site	probably null
R7394:1700017N19Rik	UTSW	10	100,609,176 (GRCm38)	missense	probably benign	0.01
R7412:1700017N19Rik	UTSW	10	100,612,829 (GRCm38)	nonsense	probably null
R7870:1700017N19Rik	UTSW	10	100,605,643 (GRCm38)	missense	probably benign
R7914:1700017N19Rik	UTSW	10	100,592,676 (GRCm38)	missense	probably benign
R8466:1700017N19Rik	UTSW	10	100,602,011 (GRCm38)	missense	probably benign	0.00
R8558:1700017N19Rik	UTSW	10	100,594,635 (GRCm38)	missense	probably benign	0.23
R9004:1700017N19Rik	UTSW	10	100,618,335 (GRCm38)	unclassified	probably benign
R9105:1700017N19Rik	UTSW	10	100,603,545 (GRCm38)	nonsense	probably null
R9641:1700017N19Rik	UTSW	10	100,594,636 (GRCm38)	missense	possibly damaging	0.91
Z1088:1700017N19Rik	UTSW	10	100,605,639 (GRCm38)	missense	probably damaging	1.00
Z1176:1700017N19Rik	UTSW	10	100,612,429 (GRCm38)	missense	probably damaging	0.98

Posted On

2015-04-16