Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02125:1700015F17Rik'

280814

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700015F17Rik

Ensembl Gene

ENSMUSG00000079666

Gene Name

RIKEN cDNA 1700015F17 gene

Synonyms

LOC381716

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

IGL02125

Quality Score

Status

Chromosome

Chromosomal Location

5437827-5479143 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 5450644 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 151 (*151W)

Ref Sequence

ENSEMBL: ENSMUSP00000111107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115447] [ENSMUST00000128151] [ENSMUST00000156282]

Predicted Effect

probably null
Transcript: ENSMUST00000115447
AA Change: *151W

SMART Domains

Protein: ENSMUSP00000111107
Gene: ENSMUSG00000079666
AA Change: *151W

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000128151
AA Change: D55G

Predicted Effect

probably benign
Transcript: ENSMUST00000156282

SMART Domains

Protein: ENSMUSP00000122651
Gene: ENSMUSG00000079666

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 55,871,939	C493*	probably null	Het
Aldh16a1	G	A	7: 45,146,035	P400L	probably damaging	Het
Ankrd12	A	G	17: 65,970,144		probably benign	Het
Anxa5	G	A	3: 36,452,264	T213I	probably damaging	Het
Baz2b	A	G	2: 59,968,640	L380S	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cacna2d2	C	T	9: 107,513,904	Q411*	probably null	Het
Cdh19	A	G	1: 110,929,884	V240A	possibly damaging	Het
Cltc	A	T	11: 86,704,810		probably benign	Het
Dclk3	T	A	9: 111,469,107	V573E	probably damaging	Het
Dhx29	T	C	13: 112,955,300		probably benign	Het
Dip2b	T	C	15: 100,186,250	L918P	possibly damaging	Het
Dzip3	A	T	16: 48,927,596	N1150K	probably damaging	Het
Fgf5	T	C	5: 98,254,532	S41P	possibly damaging	Het
Galc	A	T	12: 98,231,509	Y120N	probably damaging	Het
Gldc	T	C	19: 30,147,241	N219S	probably benign	Het
Gm11563	A	T	11: 99,658,805	V41E	unknown	Het
Gm597	T	C	1: 28,776,338	N871S	possibly damaging	Het
Gpatch11	T	A	17: 78,840,109	N106K	probably benign	Het
Gpx3	A	G	11: 54,907,242	N68S	probably damaging	Het
Ibtk	T	C	9: 85,735,070	N150D	probably damaging	Het
Iglc2	G	A	16: 19,198,712	P48S	probably benign	Het
Itih5	G	A	2: 10,240,987	R629H	probably benign	Het
Kank1	T	A	19: 25,410,703	V552E	possibly damaging	Het
Kmt2a	T	A	9: 44,848,686	H655L	probably damaging	Het
Mkl2	A	G	16: 13,400,183		probably null	Het
Mme	A	T	3: 63,348,649	N510I	probably damaging	Het
Obscn	A	G	11: 59,022,362	I6943T	probably damaging	Het
Obscn	G	T	11: 59,093,326	Q1768K	possibly damaging	Het
Olfr209	T	C	16: 59,361,516	N234S	probably benign	Het
Olfr633	T	A	7: 103,947,072	C169S	probably damaging	Het
Otud3	A	T	4: 138,896,714		probably null	Het
Parp4	A	G	14: 56,590,502	K237E	probably benign	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Rbbp6	T	C	7: 122,971,129		probably null	Het
Rdh16	G	T	10: 127,811,319		probably benign	Het
Ropn1	A	G	16: 34,666,777	T28A	probably benign	Het
Sec24d	T	C	3: 123,358,958	V873A	probably damaging	Het
Serpinb3b	T	A	1: 107,154,744	L263F	probably damaging	Het
Shq1	T	C	6: 100,631,006	T315A	probably benign	Het
Slc13a4	T	C	6: 35,278,288	E355G	probably benign	Het
Slc26a9	T	C	1: 131,759,437	S445P	probably damaging	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Slc4a10	A	T	2: 62,268,171	M550L	probably benign	Het
Syt17	T	C	7: 118,409,974	D341G	probably benign	Het
Tmem62	A	G	2: 120,996,512	Y430C	probably benign	Het
Upp1	A	G	11: 9,125,650		probably benign	Het
Vmn1r91	T	G	7: 20,101,504	V116G	probably damaging	Het
Vmn2r101	A	T	17: 19,589,701	I250F	possibly damaging	Het
Vmn2r116	T	G	17: 23,397,627		probably benign	Het
Vmn2r72	C	T	7: 85,750,711	V377I	probably benign	Het
Zfp592	G	T	7: 81,038,184	A953S	probably benign	Het

Other mutations in 1700015F17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02701:1700015F17Rik	APN	5	5466623	critical splice donor site	probably null
IGL02821:1700015F17Rik	APN	5	5452039	nonsense	probably null
R1029:1700015F17Rik	UTSW	5	5455919	missense	probably benign	0.21
R1463:1700015F17Rik	UTSW	5	5452073	splice site	probably benign
R1525:1700015F17Rik	UTSW	5	5452019	missense	probably benign	0.00
R1550:1700015F17Rik	UTSW	5	5452019	missense	probably benign	0.00
R1764:1700015F17Rik	UTSW	5	5478943	missense	possibly damaging	0.83
R1911:1700015F17Rik	UTSW	5	5452019	missense	probably benign	0.00
R1912:1700015F17Rik	UTSW	5	5452019	missense	probably benign	0.00
R1930:1700015F17Rik	UTSW	5	5452019	missense	probably benign	0.00
R1931:1700015F17Rik	UTSW	5	5452019	missense	probably benign	0.00
R2013:1700015F17Rik	UTSW	5	5455964	missense	probably benign	0.00
R2014:1700015F17Rik	UTSW	5	5455964	missense	probably benign	0.00
R2015:1700015F17Rik	UTSW	5	5455964	missense	probably benign	0.00
R2151:1700015F17Rik	UTSW	5	5478875	missense	possibly damaging	0.46
R2420:1700015F17Rik	UTSW	5	5455912	missense	probably benign	0.00
R2421:1700015F17Rik	UTSW	5	5455912	missense	probably benign	0.00
R3056:1700015F17Rik	UTSW	5	5457283	critical splice donor site	probably null
R4012:1700015F17Rik	UTSW	5	5478955	missense	probably damaging	1.00

Posted On

2015-04-16