Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02372:1700001P01Rik'

290965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700001P01Rik

Ensembl Gene

ENSMUSG00000018543

Gene Name

RIKEN cDNA 1700001P01 gene

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

97771481-97775918 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97775699 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 54 (Y54N)

Ref Sequence

ENSEMBL: ENSMUSP00000103202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103146] [ENSMUST00000107576]

Predicted Effect

probably benign
Transcript: ENSMUST00000103146

SMART Domains

Protein: ENSMUSP00000099435
Gene: ENSMUSG00000071415

Domain	Start	End	E-Value	Type
low complexity region	4	11	N/A	INTRINSIC
Ribosomal_L14	19	140	2.71e-59	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107576
AA Change: Y54N

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

SMART Domains

Protein: ENSMUSP00000103202
Gene: ENSMUSG00000018543
AA Change: Y54N

Domain	Start	End	E-Value	Type
Pfam:DUF4542	12	146	5.8e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183504

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alyref	A	G	11: 120,594,875		probably benign	Het
Ankrd27	A	G	7: 35,633,036		probably null	Het
Arc	A	G	15: 74,672,105	S90P	probably damaging	Het
Atp6v1e1	T	A	6: 120,801,123	K150N	probably benign	Het
Atrn	T	C	2: 131,002,754		probably benign	Het
Ccnb1	A	G	13: 100,781,316	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,929,907	V1938A	probably benign	Het
Ckmt2	A	G	13: 91,865,224	V37A	probably benign	Het
Dpys	G	T	15: 39,793,271	P467T	probably benign	Het
Ehbp1l1	T	C	19: 5,710,834	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,229,986	L302P	probably benign	Het
Faf1	T	G	4: 109,935,582	F584V	probably benign	Het
Glb1l2	G	A	9: 26,796,476	R72C	probably damaging	Het
Gm9892	T	C	8: 52,196,836		noncoding transcript	Het
Hecw1	G	T	13: 14,264,121	D892E	probably damaging	Het
Hr	A	G	14: 70,558,350	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,252,406	F297V	probably damaging	Het
Myc	A	G	15: 61,987,858	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613	N671K	probably benign	Het
Nup210l	C	A	3: 90,201,971	T1607N	possibly damaging	Het
Olfr281	A	T	15: 98,456,828	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,841,313	K22*	probably null	Het
Phf20l1	T	C	15: 66,641,801	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,102,080	R40W	probably damaging	Het
Pomt2	C	T	12: 87,122,835		probably benign	Het
Rab3gap1	A	G	1: 127,919,561		probably benign	Het
Sbk1	T	C	7: 126,291,058	L81P	probably damaging	Het
Scrib	G	A	15: 76,048,255	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,807,515	N240K	probably benign	Het
Smyd4	A	T	11: 75,390,285	K195*	probably null	Het
Tulp3	A	T	6: 128,327,598	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,520,620		probably benign	Het

Other mutations in 1700001P01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:1700001P01Rik	APN	11	97771581	missense	probably damaging	0.97
R1720:1700001P01Rik	UTSW	11	97771609	missense	probably damaging	1.00
R3684:1700001P01Rik	UTSW	11	97775699	missense	probably damaging	1.00
R4592:1700001P01Rik	UTSW	11	97771615	missense	probably damaging	1.00
R5250:1700001P01Rik	UTSW	11	97772727	missense	possibly damaging	0.92
X0020:1700001P01Rik	UTSW	11	97775663	nonsense	probably null
X0063:1700001P01Rik	UTSW	11	97775805	missense	probably damaging	0.98

Posted On

2015-04-16