Mutagenetix > Incidental Mutations

Incidental Mutation 'R6060:1110057P08Rik'

506193

Institutional Source

Beutler Lab

Gene Symbol

1110057P08Rik

Ensembl Gene

ENSMUSG00000068067

Gene Name

RIKEN cDNA 1110057P08 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6060 (G1)

Quality Score

190.009

Status

Validated

Chromosome

Chromosomal Location

89174735-89175199 bp(+) (GRCm38)

Type of Mutation

splice site (94 bp from exon)

DNA Base Change (assembly)

A to G at 89169742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000086499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089097] [ENSMUST00000089098]

AlphaFold

Q3V4B6

Predicted Effect

probably benign
Transcript: ENSMUST00000089097

Predicted Effect

probably null
Transcript: ENSMUST00000089098

SMART Domains

Protein: ENSMUSP00000086499
Gene: ENSMUSG00000068068

Domain	Start	End	E-Value	Type
Pfam:KRTAP	1	46	1.6e-11	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	T	C	3: 138,286,783	I220T	probably damaging	Het
Ajap1	G	A	4: 153,432,242	T214I	probably damaging	Het
Ank2	A	G	3: 126,955,952	F476S	probably damaging	Het
Atp6v1g3	A	G	1: 138,273,844	K27E	possibly damaging	Het
B230118H07Rik	T	C	2: 101,610,605	K18E	probably benign	Het
BC034090	A	G	1: 155,241,499	I291T	probably benign	Het
Cnot9	T	A	1: 74,517,126	N27K	probably benign	Het
Cyp2c70	A	T	19: 40,165,413	L244*	probably null	Het
Cyp2d22	T	C	15: 82,375,885	T6A	probably benign	Het
D630045J12Rik	T	C	6: 38,130,864	E1829G	probably damaging	Het
Dnajc4	G	T	19: 6,990,725	S61*	probably null	Het
Dpysl4	A	G	7: 139,089,408	M1V	probably null	Het
Fam149a	T	A	8: 45,358,762		probably benign	Het
Fam184b	T	C	5: 45,553,147	E547G	probably damaging	Het
Fam47e	T	A	5: 92,579,613	F127I	possibly damaging	Het
Ifi207	G	A	1: 173,730,527	T215I	unknown	Het
Lpxn	T	C	19: 12,833,125	L311P	probably damaging	Het
Lrp1b	A	T	2: 40,750,934	N3499K		Het
Mknk2	A	T	10: 80,671,634	D76E	probably benign	Het
Nectin2	A	T	7: 19,717,775	Y445N	probably damaging	Het
Ngb	A	C	12: 87,100,189	S85A	probably benign	Het
Nrp1	C	A	8: 128,497,938	H727Q	probably damaging	Het
Olfr1466	C	T	19: 13,342,133	A125V	probably benign	Het
Olfr420	C	A	1: 174,159,341	C189*	probably null	Het
Pold3	A	C	7: 100,100,612	Y115*	probably null	Het
Ppp1r12b	C	G	1: 134,955,524	V87L	probably benign	Het
Ppp1r26	A	G	2: 28,451,030	N224S	probably benign	Het
Prl7a1	G	A	13: 27,637,588	P122S	probably damaging	Het
Rc3h2	T	C	2: 37,399,600	H400R	possibly damaging	Het
Rnf32	A	T	5: 29,206,754	I214L	probably benign	Het
Safb2	A	T	17: 56,563,246		probably null	Het
Serpinb6e	A	G	13: 33,841,273	C12R	possibly damaging	Het
Sh2b2	A	T	5: 136,232,355	N2K	possibly damaging	Het
Slc12a4	G	A	8: 105,945,706	A821V	probably damaging	Het
Slc41a1	A	G	1: 131,840,234	M179V	probably benign	Het
Slc9a3	A	G	13: 74,150,885	Y141C	probably damaging	Het
Tenm4	G	A	7: 96,873,711	V1450I	probably damaging	Het
Trmt1l	A	G	1: 151,457,580	N642S	possibly damaging	Het
Ttll13	G	A	7: 80,258,743	R576H	probably damaging	Het
Zar1	T	A	5: 72,580,929	R43S	probably benign	Het
Zfp455	A	G	13: 67,207,193	Y175C	probably damaging	Het

Other mutations in 1110057P08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01503:1110057P08Rik	APN	16	89174869	nonsense	probably null
IGL02584:1110057P08Rik	APN	16	89174856	missense	unknown
IGL02822:1110057P08Rik	APN	16	89174795	missense	unknown
R9199:1110057P08Rik	UTSW	16	89174766	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGAGGATATTATGGAGGCCTG -3'
(R):5'- ACAAGCGCACATTTGTACCC -3'

Sequencing Primer
(F):5'- CCTAGGCTGTGGCTATGGC -3'
(R):5'- GTCACAAACATGCACCTCACATTTAG -3'

Posted On

2018-03-08