Mutagenetix > Incidental Mutation

Incidental Mutation 'R4790:1600015I10Rik'

368439

Institutional Source

Beutler Lab

Gene Symbol

1600015I10Rik

Ensembl Gene

ENSMUSG00000029813

Gene Name

RIKEN cDNA 1600015I10 gene

Synonyms

MMRRC Submission

042418-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R4790 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48929895-48933687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48930552 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 162 (I162N)

Ref Sequence

ENSEMBL: ENSMUSP00000031837 (fasta)

Gene Model

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

AlphaFold

E9Q745

Predicted Effect

probably damaging
Transcript: ENSMUST00000031837
AA Change: I162N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: I162N

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	G	11: 110,311,410	T390P	possibly damaging	Het
Acss3	A	T	10: 107,023,702	Y345*	probably null	Het
Adam26b	A	T	8: 43,520,727	S413T	probably benign	Het
Angpt2	T	A	8: 18,714,082	Q148L	probably damaging	Het
Ank3	T	A	10: 69,988,151	Y883*	probably null	Het
Ankrd52	A	G	10: 128,380,945	K190E	possibly damaging	Het
Anks1b	A	G	10: 90,163,275	R415G	probably damaging	Het
Ano3	T	A	2: 110,884,919	Q58L	probably benign	Het
Arhgap39	A	T	15: 76,726,731	M924K	possibly damaging	Het
AU040320	A	G	4: 126,847,215	M910V	possibly damaging	Het
BC051019	T	A	7: 109,716,346	H86L	probably benign	Het
C1qbp	G	A	11: 70,980,030	Q151*	probably null	Het
C4b	G	T	17: 34,734,143	D1069E	probably benign	Het
C77080	C	A	4: 129,223,302	R523L	probably damaging	Het
Casp1	C	T	9: 5,303,020	T158I	probably benign	Het
Casq1	T	C	1: 172,216,837	D141G	probably damaging	Het
Ccdc33	T	A	9: 58,029,957	E653V	probably damaging	Het
Cd180	C	T	13: 102,702,822	T71M	probably damaging	Het
Cdk4	T	C	10: 127,064,701	L112P	probably damaging	Het
Celf2	A	G	2: 6,549,903	F425S	probably damaging	Het
Chrm3	A	T	13: 9,877,662	V446E	probably benign	Het
Chst9	A	T	18: 15,453,050	L152H	probably damaging	Het
Cib2	A	G	9: 54,549,803		probably null	Het
Clec18a	T	C	8: 111,072,085	S366G	probably damaging	Het
Crebbp	A	G	16: 4,180,119	F34L	probably damaging	Het
Dapk1	AT	A	13: 60,723,105		probably null	Het
Ddi1	T	A	9: 6,265,761	M203L	probably benign	Het
Ddx20	G	T	3: 105,683,169	S270R	probably benign	Het
Epp13	A	T	7: 6,266,318	K31*	probably null	Het
Espnl	A	T	1: 91,344,424	E458V	probably damaging	Het
Fat3	T	C	9: 15,998,484	D2074G	probably damaging	Het
Fcf1	A	G	12: 84,974,128	T61A	probably benign	Het
Fkbp15	T	C	4: 62,307,997	R772G	probably benign	Het
Flnb	T	C	14: 7,905,661	V1137A	probably benign	Het
Fosb	C	A	7: 19,309,388	C15F	probably damaging	Het
Frem2	A	T	3: 53,516,741	W3092R	probably benign	Het
Gm3248	T	C	14: 5,945,831	I28V	probably damaging	Het
Gm4922	G	T	10: 18,784,168	L269I	possibly damaging	Het
Gucy2e	G	A	11: 69,228,448	R627W	probably damaging	Het
Hephl1	T	A	9: 15,059,171	E1009V	probably damaging	Het
Hsf4	A	T	8: 105,270,605	Q61L	probably damaging	Het
Itgam	T	A	7: 128,116,273	N1046K	probably benign	Het
Itgav	G	A	2: 83,755,810	C138Y	probably damaging	Het
Itih4	A	T	14: 30,889,910	Y157F	probably damaging	Het
Kcnt2	C	T	1: 140,354,516	R80C	probably damaging	Het
Kdm4b	G	A	17: 56,401,618	V986M	probably damaging	Het
Lamb3	T	A	1: 193,339,886	V1014D	probably damaging	Het
Lrrc74b	G	T	16: 17,549,853	N282K	probably damaging	Het
Map3k20	T	A	2: 72,441,704	H725Q	probably benign	Het
Mink1	A	G	11: 70,599,041	N81S	probably damaging	Het
Mmp21	A	G	7: 133,675,030	Y415H	probably damaging	Het
Mycbp2	A	T	14: 103,229,437	W1297R	probably damaging	Het
Myh8	T	C	11: 67,279,963	M95T	probably damaging	Het
Myo7b	A	T	18: 32,000,105		probably null	Het
Nanog	A	G	6: 122,707,915	M20V	probably benign	Het
Ncapd3	A	G	9: 27,051,850	I484V	probably benign	Het
Ndufa12	A	T	10: 94,220,758	N116I	probably benign	Het
Nedd4l	A	G	18: 65,203,945	I668V	possibly damaging	Het
Nobox	T	C	6: 43,305,546	D309G	probably benign	Het
Npnt	A	G	3: 132,890,762		probably benign	Het
Nrxn1	A	C	17: 90,455,049	Y2D	possibly damaging	Het
Obox6	G	T	7: 15,834,577	P125T	possibly damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1079	T	C	2: 86,538,880	T10A	possibly damaging	Het
Olfr1193	T	A	2: 88,678,387	N177K	possibly damaging	Het
Olfr1436	A	G	19: 12,298,941	Y64H	possibly damaging	Het
Olfr202	A	T	16: 59,284,458	V13D	probably damaging	Het
Olfr679	T	C	7: 105,086,637		probably benign	Het
Olfr697	C	G	7: 106,741,791	V48L	probably benign	Het
Olfr761	T	C	17: 37,952,742	Y94C	probably damaging	Het
Osm	A	T	11: 4,238,435	M21L	probably benign	Het
Otogl	T	A	10: 107,822,033		probably null	Het
Otud4	T	G	8: 79,666,773	S493A	possibly damaging	Het
Pars2	A	G	4: 106,651,111		probably benign	Het
Phlda3	T	A	1: 135,766,819	V124E	possibly damaging	Het
Pias4	T	C	10: 81,157,492	D199G	probably damaging	Het
Pm20d1	T	C	1: 131,812,039	L375P	probably benign	Het
Pole2	T	C	12: 69,226,365	I48V	probably benign	Het
Prrc2c	T	C	1: 162,710,481	R527G	unknown	Het
Rasgrf2	G	T	13: 91,988,016	N592K	probably damaging	Het
Rbm7	A	G	9: 48,495,174	L26P	probably damaging	Het
Rhag	A	G	17: 40,831,290	H208R	probably benign	Het
Rnf17	A	G	14: 56,434,355	E268G	probably damaging	Het
Rnf220	A	G	4: 117,289,055	V23A	probably benign	Het
Rnf7	A	T	9: 96,478,419	V55D	probably damaging	Het
Sdr9c7	C	A	10: 127,903,579	R188S	possibly damaging	Het
Senp6	T	A	9: 80,089,858	N51K	probably benign	Het
Skint3	C	A	4: 112,255,898	T235K	possibly damaging	Het
Slc10a5	A	G	3: 10,335,036	F188S	probably damaging	Het
Slc41a1	G	A	1: 131,830,952	G111R	probably damaging	Het
Smarca1	T	C	X: 47,884,067	D132G	probably null	Het
Snrnp48	C	T	13: 38,221,323	R299W	probably damaging	Het
Sspo	G	A	6: 48,460,771	G1413D	probably benign	Het
Star	T	A	8: 25,808,616	H16Q	probably damaging	Het
Strc	T	C	2: 121,375,594	D779G	probably benign	Het
Sulf2	T	C	2: 166,089,295	Y264C	probably damaging	Het
Supt7l	A	G	5: 31,522,904	S6P	possibly damaging	Het
Syne2	A	G	12: 76,020,391	D4289G	probably benign	Het
Szrd1	A	T	4: 141,139,690		probably null	Het
Tada1	T	C	1: 166,391,954	V275A	possibly damaging	Het
Tbr1	A	T	2: 61,811,588	Y136F	probably benign	Het
Tbx20	T	A	9: 24,725,714	H359L	probably benign	Het
Thbs4	G	T	13: 92,762,806	D560E	probably damaging	Het
Tnfsf14	T	C	17: 57,190,740	H164R	probably damaging	Het
Trmu	T	C	15: 85,882,805	S72P	probably damaging	Het
Tsnaxip1	C	A	8: 105,833,523	Q36K	probably benign	Het
Ttc28	T	A	5: 111,224,217	M844K	possibly damaging	Het
Tubgcp2	T	C	7: 139,999,288	Y695C	probably damaging	Het
Ugt1a10	T	A	1: 88,056,287	M269K	probably damaging	Het
Urb1	A	T	16: 90,769,555	L1448*	probably null	Het
Vmn2r124	A	T	17: 18,049,593	H37L	probably damaging	Het
Vmn2r44	T	C	7: 8,367,950	N699S	probably damaging	Het
Vps35	A	T	8: 85,278,857		probably null	Het
Yipf1	G	T	4: 107,336,199		probably null	Het
Zfp395	A	G	14: 65,393,207	D402G	probably damaging	Het
Zfp395	A	G	14: 65,386,541	N153S	possibly damaging	Het
Zfp652	T	C	11: 95,749,609	V120A	probably damaging	Het
Zp3r	T	C	1: 130,582,892	I364M	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
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
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
R8839:1600015I10Rik	UTSW	6	48931040	missense	probably damaging	1.00
R8863:1600015I10Rik	UTSW	6	48930108	missense	probably benign	0.00
R9266:1600015I10Rik	UTSW	6	48930237	missense	probably benign	0.00
R9274:1600015I10Rik	UTSW	6	48930407	missense	possibly damaging	0.94
R9380:1600015I10Rik	UTSW	6	48933130	missense	probably damaging	1.00
R9382:1600015I10Rik	UTSW	6	48930364	missense	probably benign	0.08
R9562:1600015I10Rik	UTSW	6	48930975	missense	probably benign	0.01
R9565:1600015I10Rik	UTSW	6	48930975	missense	probably benign	0.01
R9703:1600015I10Rik	UTSW	6	48932695	missense	probably benign	0.01
R9781:1600015I10Rik	UTSW	6	48930726	missense	possibly damaging	0.58
X0062:1600015I10Rik	UTSW	6	48933132	missense	possibly damaging	0.55
Z1176:1600015I10Rik	UTSW	6	48932468	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TGCCCGATAAGGAGGATGTG -3'
(R):5'- CTTTCCATATAGCGTTGCAACATG -3'

Sequencing Primer
(F):5'- TGCTAGATTTTCTGGACAAAGGAG -3'
(R):5'- TATAGCGTTGCAACATGAACCAG -3'

Posted On

2016-02-04