Mutagenetix > Incidental Mutations

Incidental Mutation 'R0096:1600015I10Rik'

17077

Institutional Source

Beutler Lab

Gene Symbol

1600015I10Rik

Ensembl Gene

ENSMUSG00000029813

Gene Name

RIKEN cDNA 1600015I10 gene

Synonyms

MMRRC Submission

038382-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R0096 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

48929895-48933687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 48931188 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 374 (Q374P)

Ref Sequence

ENSEMBL: ENSMUSP00000031837 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031837
AA Change: Q374P

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

SMART Domains

Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: Q374P

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

0.1687

Coding Region Coverage

1x: 90.0%
3x: 87.5%
10x: 81.4%
20x: 72.0%

Validation Efficiency

89% (76/85)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 105,708,931		probably null	Het
AC132131.1	T	C	10: 90,074,062	S48P	possibly damaging	Het
Adamts3	G	A	5: 89,701,717	Q615*	probably null	Het
Adamtsl3	T	A	7: 82,465,699		probably benign	Het
Arhgap42	G	T	9: 9,009,313	N524K	probably damaging	Het
Arhgef28	T	G	13: 97,931,254	T1388P	probably damaging	Het
Arid4b	T	C	13: 14,129,194	V68A	probably benign	Het
Bard1	A	T	1: 71,053,730		probably benign	Het
BC005537	T	C	13: 24,805,940	F129L	probably damaging	Het
Capn3	A	T	2: 120,502,529	H592L	possibly damaging	Het
Ccdc105	T	A	10: 78,748,705	I328L	probably benign	Het
Cilp	A	G	9: 65,273,670	T256A	possibly damaging	Het
Cpne8	T	A	15: 90,499,915	I481L	probably benign	Het
Dglucy	A	T	12: 100,838,651	I134F	possibly damaging	Het
Dnaic2	A	C	11: 114,754,332	D531A	probably benign	Het
Dthd1	A	T	5: 62,843,040	R568S	possibly damaging	Het
Efr3a	A	G	15: 65,855,441	N613S	probably damaging	Het
Ermp1	A	G	19: 29,631,388	Y164H	possibly damaging	Het
Fbrs	C	T	7: 127,489,487	A145V	probably damaging	Het
Gm9873	A	T	2: 169,021,109		noncoding transcript	Het
Grik1	T	C	16: 88,034,226	M219V	possibly damaging	Het
Gucy1a2	A	T	9: 3,758,928		probably benign	Het
Itih5	G	A	2: 10,251,378	R885Q	probably benign	Het
Kat2a	A	T	11: 100,706,471	V625E	probably damaging	Het
Kdm4c	A	G	4: 74,357,343	E752G	probably damaging	Het
Ksr1	A	G	11: 79,038,247		probably benign	Het
Lama1	T	A	17: 67,805,413	F2283I	probably benign	Het
Luc7l3	A	G	11: 94,301,494		probably benign	Het
Map1a	A	G	2: 121,301,505	E696G	probably damaging	Het
Mrps34	A	G	17: 24,895,669	D110G	probably damaging	Het
Myh11	T	A	16: 14,204,367	K1710M	possibly damaging	Het
Myo1d	A	G	11: 80,484,332	L972P	probably damaging	Het
Nol4	T	G	18: 22,921,858	T58P	possibly damaging	Het
Nos1ap	T	C	1: 170,329,247	D214G	probably damaging	Het
Olfr1224-ps1	A	T	2: 89,156,296	M293K	probably benign	Het
Pde4dip	A	C	3: 97,767,467	D44E	probably damaging	Het
Pip4k2a	G	A	2: 18,889,039		probably benign	Het
Prmt8	T	A	6: 127,732,627		probably benign	Het
Pygl	A	T	12: 70,191,166		probably benign	Het
Ralgapa1	T	C	12: 55,739,505	D643G	probably damaging	Het
Sdk2	A	G	11: 113,903,144		probably benign	Het
Skint5	A	T	4: 113,597,768		probably benign	Het
Slc27a6	T	C	18: 58,598,757		probably benign	Het
Spata46	C	T	1: 170,312,034	Q201*	probably null	Het
Sptbn1	A	T	11: 30,114,739	V1920E	probably damaging	Het
Sycp2	G	T	2: 178,403,735	Q31K	probably damaging	Het
Taf6l	A	G	19: 8,778,517	F256L	probably benign	Het
Trf	A	G	9: 103,222,159	F300L	probably damaging	Het
Vmn2r105	A	G	17: 20,227,479	F361S	possibly damaging	Het
Vmn2r79	A	G	7: 87,037,319	Y636C	probably damaging	Het
Wdr59	T	C	8: 111,504,373	N68D	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
R0448:1600015I10Rik	UTSW	6	48933057	missense	probably damaging	1.00
R1488:1600015I10Rik	UTSW	6	48933447	missense	possibly damaging	0.91
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
R7242:1600015I10Rik	UTSW	6	48931128	missense	probably damaging	1.00
R7762:1600015I10Rik	UTSW	6	48932686	missense	probably benign	0.07
R8257:1600015I10Rik	UTSW	6	48932497	missense	probably benign	0.04
R8391:1600015I10Rik	UTSW	6	48932668	missense	probably damaging	0.96
X0062:1600015I10Rik	UTSW	6	48933132	missense	possibly damaging	0.55
Z1176:1600015I10Rik	UTSW	6	48932468	missense	probably benign	0.38

Posted On

2013-01-20