Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01728:1700019A02Rik'

105356

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700019A02Rik

Ensembl Gene

ENSMUSG00000060715

Gene Name

RIKEN cDNA 1700019A02 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

IGL01728

Quality Score

Status

Chromosome

Chromosomal Location

53197736-53226795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53221668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 54 (S54P)

Ref Sequence

ENSEMBL: ENSMUSP00000139938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072235] [ENSMUST00000190748]

AlphaFold

A0A087WPV9

Predicted Effect

probably benign
Transcript: ENSMUST00000072235
AA Change: S54P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000072089
Gene: ENSMUSG00000060715
AA Change: S54P

Domain	Start	End	E-Value	Type
coiled coil region	38	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190748
AA Change: S54P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139938
Gene: ENSMUSG00000060715
AA Change: S54P

Domain	Start	End	E-Value	Type
coiled coil region	38	68	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	T	C	4: 86,029,074 (GRCm39)	I71T	probably damaging	Het
Agbl3	T	C	6: 34,759,092 (GRCm39)	M1T	probably null	Het
Ankib1	A	G	5: 3,751,992 (GRCm39)		probably benign	Het
Brinp3	T	G	1: 146,707,289 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,087,085 (GRCm39)	N138S	possibly damaging	Het
Dock7	G	A	4: 98,850,568 (GRCm39)	T1588M	probably damaging	Het
Ehbp1	G	A	11: 22,051,115 (GRCm39)	T479I	probably damaging	Het
Gpn2	T	C	4: 133,311,813 (GRCm39)	I15T	possibly damaging	Het
H3c2	G	A	13: 23,936,712 (GRCm39)	R117H	probably benign	Het
Haao	A	G	17: 84,142,658 (GRCm39)	F149S	probably damaging	Het
Iqsec3	T	A	6: 121,389,623 (GRCm39)		probably benign	Het
Lrrc39	G	T	3: 116,373,149 (GRCm39)		probably benign	Het
Ltbp2	C	A	12: 84,837,783 (GRCm39)	S1199I	probably damaging	Het
Mageb3	G	T	2: 121,784,941 (GRCm39)	P254T	probably damaging	Het
Mapkbp1	C	T	2: 119,854,302 (GRCm39)	P1300S	probably damaging	Het
Mtfmt	T	A	9: 65,343,100 (GRCm39)	L2H	probably damaging	Het
Myo18a	G	T	11: 77,668,682 (GRCm39)	G181W	probably damaging	Het
Mzf1	T	C	7: 12,785,654 (GRCm39)		probably benign	Het
Nfatc2	A	T	2: 168,378,162 (GRCm39)	L280Q	probably damaging	Het
Nudt15	A	G	14: 73,760,736 (GRCm39)		probably null	Het
Or51k2	T	C	7: 103,595,959 (GRCm39)	F62S	probably damaging	Het
Or8b53	A	G	9: 38,667,391 (GRCm39)	M136V	possibly damaging	Het
Parp14	A	G	16: 35,677,805 (GRCm39)	V721A	probably damaging	Het
Pbp2	G	T	6: 135,287,073 (GRCm39)	N91K	probably damaging	Het
Pde7b	C	A	10: 20,310,210 (GRCm39)		probably null	Het
Pramel7	C	A	2: 87,321,674 (GRCm39)	E120D	possibly damaging	Het
Rbbp5	C	T	1: 132,425,818 (GRCm39)	T516M	probably benign	Het
Slc16a12	A	G	19: 34,668,071 (GRCm39)	V28A	possibly damaging	Het
Slc6a9	T	C	4: 117,721,802 (GRCm39)	F276S	probably damaging	Het
Spata9	A	T	13: 76,141,193 (GRCm39)	I147L	probably benign	Het
Tenm4	A	T	7: 96,545,271 (GRCm39)	Y2429F	probably damaging	Het
Tmtc1	A	G	6: 148,312,564 (GRCm39)	S212P	probably benign	Het
Unc5cl	A	T	17: 48,766,991 (GRCm39)	I122F	probably damaging	Het
Unc79	T	A	12: 103,131,943 (GRCm39)	F2350I	probably damaging	Het

Other mutations in 1700019A02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02249:1700019A02Rik	APN	1	53,224,431 (GRCm39)	nonsense	probably null
IGL02727:1700019A02Rik	APN	1	53,226,724 (GRCm39)	missense	probably benign	0.00
IGL02970:1700019A02Rik	APN	1	53,226,748 (GRCm39)	missense	probably damaging	0.99
IGL03402:1700019A02Rik	APN	1	53,216,972 (GRCm39)	missense	probably benign	0.00
R1557:1700019A02Rik	UTSW	1	53,221,025 (GRCm39)	missense	possibly damaging	0.81
R1955:1700019A02Rik	UTSW	1	53,202,400 (GRCm39)	missense	probably benign	0.09
R4030:1700019A02Rik	UTSW	1	53,221,668 (GRCm39)	missense	probably benign	0.03
R4060:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
R4061:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
R4062:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
R4327:1700019A02Rik	UTSW	1	53,221,664 (GRCm39)	missense	possibly damaging	0.90
R6018:1700019A02Rik	UTSW	1	53,202,405 (GRCm39)	critical splice acceptor site	probably null
R7490:1700019A02Rik	UTSW	1	53,202,389 (GRCm39)	missense	possibly damaging	0.90
R7715:1700019A02Rik	UTSW	1	53,221,659 (GRCm39)	missense	probably benign
R9487:1700019A02Rik	UTSW	1	53,221,665 (GRCm39)	missense	possibly damaging	0.90

Posted On

2014-01-21