Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02022:1700001J03Rik'

183993

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700001J03Rik

Ensembl Gene

ENSMUSG00000095040

Gene Name

RIKEN cDNA 1700001J03 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL02022

Quality Score

Status

Chromosome

Chromosomal Location

146119251-146122114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146120358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 160 (Y160C)

Ref Sequence

ENSEMBL: ENSMUSP00000073399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073721]

AlphaFold

Q80ZR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000073721
AA Change: Y160C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073399
Gene: ENSMUSG00000095040
AA Change: Y160C

Domain	Start	End	E-Value	Type
Pfam:RasGEF_N	68	160	1.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188052

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,412,999 (GRCm39)	S314P	probably damaging	Het
Abra	T	C	15: 41,732,802 (GRCm39)	H88R	probably benign	Het
Bsn	A	G	9: 107,987,617 (GRCm39)		probably benign	Het
Chd3	A	C	11: 69,251,886 (GRCm39)	C123G	probably damaging	Het
Clca3b	A	C	3: 144,547,171 (GRCm39)		probably null	Het
Cnot7	G	T	8: 40,952,386 (GRCm39)	P190T	probably damaging	Het
Cps1	A	T	1: 67,212,031 (GRCm39)		probably benign	Het
Dennd2d	A	G	3: 106,407,220 (GRCm39)	T424A	probably benign	Het
Dnhd1	C	T	7: 105,327,516 (GRCm39)	R54C	probably damaging	Het
Efhd1	G	A	1: 87,192,334 (GRCm39)	E55K	probably damaging	Het
Ep300	T	C	15: 81,495,638 (GRCm39)		probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Klhl3	A	T	13: 58,198,878 (GRCm39)	S201T	possibly damaging	Het
Krt1c	A	G	15: 101,724,953 (GRCm39)	F219S	probably damaging	Het
Lrp1b	C	T	2: 41,172,172 (GRCm39)	D751N	probably damaging	Het
Lyst	T	A	13: 13,838,629 (GRCm39)	C1848*	probably null	Het
Macf1	A	G	4: 123,284,842 (GRCm39)		probably null	Het
Med10	T	C	13: 69,961,819 (GRCm39)		probably benign	Het
Msh4	T	A	3: 153,592,593 (GRCm39)	T170S	probably damaging	Het
Or52n3	T	C	7: 104,530,141 (GRCm39)	C76R	probably damaging	Het
Pelp1	T	A	11: 70,297,153 (GRCm39)		probably benign	Het
Prex2	G	A	1: 11,367,963 (GRCm39)	V1595I	probably benign	Het
Prpf8	C	T	11: 75,392,660 (GRCm39)	R1617*	probably null	Het
Rabep1	T	A	11: 70,825,385 (GRCm39)	L684Q	probably damaging	Het
Slc22a4	G	A	11: 53,874,435 (GRCm39)		probably benign	Het
Smox	T	C	2: 131,362,037 (GRCm39)	F153S	probably damaging	Het
Tma16	A	G	8: 66,939,062 (GRCm39)		probably null	Het
Unc80	G	T	1: 66,665,675 (GRCm39)	R1814L	possibly damaging	Het
Vmn2r108	C	T	17: 20,691,987 (GRCm39)	D179N	possibly damaging	Het
Washc2	A	G	6: 116,236,126 (GRCm39)	E1199G	probably benign	Het
Zic1	C	A	9: 91,244,525 (GRCm39)		probably null	Het

Other mutations in 1700001J03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:1700001J03Rik	APN	5	146,120,275 (GRCm39)	missense	probably benign	0.00
IGL02475:1700001J03Rik	APN	5	146,119,343 (GRCm39)	utr 3 prime	probably benign
R0682:1700001J03Rik	UTSW	5	146,121,650 (GRCm39)	missense	probably benign	0.05
R1808:1700001J03Rik	UTSW	5	146,121,691 (GRCm39)	nonsense	probably null
R2083:1700001J03Rik	UTSW	5	146,121,681 (GRCm39)	missense	possibly damaging	0.75
R2919:1700001J03Rik	UTSW	5	146,122,001 (GRCm39)	missense	probably benign	0.00
R3753:1700001J03Rik	UTSW	5	146,121,677 (GRCm39)	missense	probably damaging	1.00
R4764:1700001J03Rik	UTSW	5	146,122,029 (GRCm39)	missense	probably benign	0.00
R7242:1700001J03Rik	UTSW	5	146,121,677 (GRCm39)	missense	probably damaging	1.00
R7578:1700001J03Rik	UTSW	5	146,120,343 (GRCm39)	missense	probably damaging	1.00
R7784:1700001J03Rik	UTSW	5	146,119,638 (GRCm39)	splice site	probably null
R9176:1700001J03Rik	UTSW	5	146,121,004 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07