Mutagenetix > Incidental Mutations

Incidental Mutation 'R1488:1600015I10Rik'

165494

Institutional Source

Beutler Lab

Gene Symbol

1600015I10Rik

Ensembl Gene

ENSMUSG00000029813

Gene Name

RIKEN cDNA 1600015I10 gene

Synonyms

MMRRC Submission

039540-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R1488 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48929895-48933687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48933447 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 691 (N691S)

Ref Sequence

ENSEMBL: ENSMUSP00000031837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031837]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031837
AA Change: N691S

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: N691S

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	50	136	1.7e-25	PFAM
Pfam:Cu_amine_oxidN3	152	252	3.5e-16	PFAM
Pfam:Cu_amine_oxid	306	708	7.1e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158710

Meta Mutation Damage Score

0.33

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	A	G	11: 97,500,859	S1401G	possibly damaging	Het
Art2b	A	C	7: 101,580,207	F162V	probably damaging	Het
Atg4c	T	A	4: 99,221,242	W149R	probably damaging	Het
Atxn1l	A	G	8: 109,733,417	I71T	probably benign	Het
Axdnd1	T	A	1: 156,348,960	L748F	probably damaging	Het
Bdh2	A	G	3: 135,296,841	Y157C	probably damaging	Het
C2cd4a	G	T	9: 67,831,708	R18S	probably benign	Het
Catsperb	A	G	12: 101,594,267	H839R	probably damaging	Het
Ccdc24	C	A	4: 117,870,568	S134I	possibly damaging	Het
Cd55	G	T	1: 130,448,378	T70K	probably damaging	Het
Cdh10	A	T	15: 19,013,263	I650F	probably damaging	Het
Clca2	T	A	3: 145,084,164	K470N	possibly damaging	Het
Csn2	G	A	5: 87,694,896	Q91*	probably null	Het
Ctsh	G	A	9: 90,071,891	D218N	possibly damaging	Het
Cyb5r4	C	G	9: 87,029,538	Y88*	probably null	Het
Dgkq	A	G	5: 108,650,877	F601S	probably damaging	Het
Eci2	A	G	13: 34,977,933	V352A	probably benign	Het
Krt28	T	C	11: 99,365,171	T421A	probably benign	Het
Lamp5	T	C	2: 136,069,091	V248A	probably benign	Het
Lin9	T	A	1: 180,688,285	L483Q	possibly damaging	Het
Lrp1b	C	A	2: 41,502,024	M509I	probably benign	Het
Lrrfip1	T	C	1: 91,114,632	V253A	probably damaging	Het
Mpdz	C	A	4: 81,348,708	E981*	probably null	Het
Mpo	A	C	11: 87,797,430	N305T	probably damaging	Het
Olfr1385	A	G	11: 49,495,118	E195G	probably benign	Het
Olfr507	A	T	7: 108,622,489	I226F	probably damaging	Het
Olfr645	T	C	7: 104,084,652	I143V	probably benign	Het
Papss2	T	C	19: 32,637,090	S69P	probably benign	Het
Pcdhb22	A	G	18: 37,519,888	T470A	possibly damaging	Het
Plce1	A	G	19: 38,716,803	D884G	possibly damaging	Het
Prex2	T	A	1: 11,193,528	I1239K	probably benign	Het
Prkd2	T	A	7: 16,858,439	F625I	probably damaging	Het
Rab20	A	T	8: 11,454,268	V144E	probably benign	Het
Rnf213	A	G	11: 119,480,889	N4840S	probably benign	Het
Scaf8	T	G	17: 3,197,597	M1065R	probably damaging	Het
Slco3a1	A	G	7: 74,346,701	L319P	possibly damaging	Het
Slit1	A	G	19: 41,608,385	C1092R	probably damaging	Het
Tlr4	A	G	4: 66,839,549	D193G	probably damaging	Het
Tmem145	T	A	7: 25,307,435		probably null	Het
Tmem184a	T	A	5: 139,807,640	K235N	probably benign	Het
Tnpo1	A	T	13: 98,856,907	D590E	probably damaging	Het
Trio	C	A	15: 27,740,967	G2724V	probably damaging	Het
Ttc6	A	T	12: 57,649,515	Y34F	possibly damaging	Het
Tuba4a	T	C	1: 75,216,401	T190A	probably benign	Het
Tubgcp4	T	G	2: 121,176,550	V136G	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn1r74	T	C	7: 11,847,583	I270T	probably benign	Het
Vmn2r103	A	T	17: 19,793,660	E238V	probably damaging	Het
Vmn2r60	T	A	7: 42,136,713	F313L	probably benign	Het
Zfp710	T	C	7: 80,082,004	Y310H	probably damaging	Het

Other mutations in 1600015I10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:1600015I10Rik	APN	6	48931040	missense	probably damaging	1.00
IGL01347:1600015I10Rik	APN	6	48932543	missense	probably benign	0.02
IGL01751:1600015I10Rik	APN	6	48930588	missense	possibly damaging	0.79
IGL01915:1600015I10Rik	APN	6	48931648	missense	probably damaging	1.00
IGL02669:1600015I10Rik	APN	6	48931473	missense	probably damaging	1.00
IGL03033:1600015I10Rik	APN	6	48932518	missense	probably benign	0.00
IGL03242:1600015I10Rik	APN	6	48932545	missense	possibly damaging	0.68
R0096:1600015I10Rik	UTSW	6	48931188	missense	probably damaging	1.00
R0096:1600015I10Rik	UTSW	6	48931188	missense	probably damaging	1.00
R0448:1600015I10Rik	UTSW	6	48933057	missense	probably damaging	1.00
R1498:1600015I10Rik	UTSW	6	48931371	missense	probably benign	0.00
R1520:1600015I10Rik	UTSW	6	48931297	nonsense	probably null
R1922:1600015I10Rik	UTSW	6	48931286	missense	probably benign	0.00
R1992:1600015I10Rik	UTSW	6	48930769	missense	probably damaging	1.00
R1997:1600015I10Rik	UTSW	6	48932429	missense	probably damaging	0.98
R2021:1600015I10Rik	UTSW	6	48931451	missense	probably damaging	1.00
R3771:1600015I10Rik	UTSW	6	48931196	missense	probably damaging	1.00
R4208:1600015I10Rik	UTSW	6	48931647	missense	probably damaging	1.00
R4790:1600015I10Rik	UTSW	6	48930552	missense	probably damaging	0.99
R5114:1600015I10Rik	UTSW	6	48931358	missense	probably benign	0.02
R5610:1600015I10Rik	UTSW	6	48931019	missense	probably benign	0.00
R5823:1600015I10Rik	UTSW	6	48930552	missense	probably damaging	0.99
R5847:1600015I10Rik	UTSW	6	48933478	missense	probably damaging	1.00
R6233:1600015I10Rik	UTSW	6	48930965	missense	probably benign
R6357:1600015I10Rik	UTSW	6	48930974	missense	probably benign	0.00
R6694:1600015I10Rik	UTSW	6	48930546	missense	probably benign	0.21
R6733:1600015I10Rik	UTSW	6	48930530	missense	probably damaging	1.00
R6894:1600015I10Rik	UTSW	6	48930662	missense	probably damaging	1.00
R6898:1600015I10Rik	UTSW	6	48931041	missense	probably damaging	0.97
R6916:1600015I10Rik	UTSW	6	48931053	missense	probably benign	0.01
X0062:1600015I10Rik	UTSW	6	48933132	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- GTGGAACTGAGGACATCCCATGAAG -3'
(R):5'- GCCACAGGATGAGAGTGCTGATAATC -3'

Sequencing Primer
(F):5'- GGACATCCCATGAAGTCTGTG -3'
(R):5'- CATTAAGGTGGAACATTTCCCC -3'

Posted On

2014-03-28