Mutagenetix > Incidental Mutations

Incidental Mutation 'R7272:Nynrin'

565371

Institutional Source

Beutler Lab

Gene Symbol

Nynrin

Ensembl Gene

ENSMUSG00000075592

Gene Name

NYN domain and retroviral integrase containing

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55854010-55874736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55870415 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 993 (G993V)

Ref Sequence

ENSEMBL: ENSMUSP00000098098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100529] [ENSMUST00000168479]

Predicted Effect

probably damaging
Transcript: ENSMUST00000100529
AA Change: G993V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: G993V

Domain	Start	End	E-Value	Type
low complexity region	581	606	N/A	INTRINSIC
Pfam:RNase_Zc3h12a	739	890	1.6e-54	PFAM
low complexity region	938	952	N/A	INTRINSIC
low complexity region	1212	1228	N/A	INTRINSIC
low complexity region	1390	1397	N/A	INTRINSIC
PDB:3S3O\|B	1478	1706	6e-8	PDB
SCOP:d1cxqa_	1552	1646	2e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168479
AA Change: G993V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: G993V

Domain	Start	End	E-Value	Type
low complexity region	581	606	N/A	INTRINSIC
Pfam:RNase_Zc3h12a	739	890	5.5e-54	PFAM
low complexity region	938	952	N/A	INTRINSIC
low complexity region	1212	1228	N/A	INTRINSIC
low complexity region	1390	1397	N/A	INTRINSIC
PDB:3S3O\|B	1478	1706	6e-8	PDB
SCOP:d1cxqa_	1552	1646	2e-12	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,323,536	I1020T	probably benign	Het
2310057N15Rik	A	T	16: 88,773,635	Y172*	probably null	Het
4930558K02Rik	T	A	1: 161,942,523	Y139F	possibly damaging	Het
A830018L16Rik	T	G	1: 11,588,471	M202R	probably damaging	Het
Abca12	T	C	1: 71,248,432	E2450G	probably damaging	Het
Ank2	C	T	3: 126,943,133	R3034H	unknown	Het
Anxa9	A	G	3: 95,305,873	I54T	probably damaging	Het
Ash1l	A	G	3: 89,054,634		probably null	Het
Aspm	T	C	1: 139,458,328	I570T	probably benign	Het
Bcar3	A	T	3: 122,508,396	I247F	possibly damaging	Het
Cep350	A	G	1: 155,953,588	V130A	probably damaging	Het
Cep89	A	T	7: 35,438,463	R757S	probably benign	Het
Cryga	A	T	1: 65,103,222	I4N	probably damaging	Het
Cyp2d26	T	A	15: 82,792,563	Y194F	probably benign	Het
Edn2	G	A	4: 120,161,946	R44H	probably damaging	Het
Ep400	G	A	5: 110,755,645	Q363*	probably null	Het
Gpr33	T	C	12: 52,024,065	T64A	probably damaging	Het
Ice2	T	A	9: 69,417,083	S763T	possibly damaging	Het
Itgad	C	A	7: 128,205,073	F1169L	probably damaging	Het
Kcnv1	A	G	15: 45,113,180	L237P	probably benign	Het
Kctd18	T	C	1: 57,956,551	E356G	probably damaging	Het
Krt33a	C	T	11: 100,012,011	R329Q	probably damaging	Het
Lama2	C	A	10: 27,124,556	G1657C	probably damaging	Het
March3	T	G	18: 56,762,521	R217S	probably benign	Het
Mmel1	A	T	4: 154,894,090	T660S	probably damaging	Het
Ms4a7	T	A	19: 11,333,278	K59*	probably null	Het
Mss51	G	A	14: 20,484,913	T263I	probably damaging	Het
Ncaph2	A	G	15: 89,364,182	M199V	probably benign	Het
Ndufa4	G	A	6: 11,905,210	Q62*	probably null	Het
Nectin4	A	G	1: 171,386,644	T456A	probably damaging	Het
Nek1	T	C	8: 61,125,086	M1214T	probably benign	Het
Nsf	T	A	11: 103,827,238	L710F	probably damaging	Het
Olfr391-ps	T	A	11: 73,798,869	D296V	probably damaging	Het
Pbk	T	A	14: 65,815,172	Y155N	probably damaging	Het
Plec	T	C	15: 76,174,953	I3595V	possibly damaging	Het
Pom121	G	A	5: 135,381,087	T1072I	unknown	Het
Sdc1	T	A	12: 8,790,554	H106Q	probably benign	Het
Slc44a3	T	C	3: 121,461,115	D618G	probably damaging	Het
Slc9c1	A	G	16: 45,581,515	D755G	possibly damaging	Het
Slfn9	T	C	11: 82,981,561	Y783C	probably benign	Het
Sorl1	C	T	9: 42,063,710		probably null	Het
Spindoc	C	T	19: 7,382,720	E28K	possibly damaging	Het
Sptbn1	T	C	11: 30,114,859	D1880G	possibly damaging	Het
Sspn	T	A	6: 145,961,474	D210E	probably benign	Het
Stx12	A	T	4: 132,857,376	I219K	possibly damaging	Het
Syne2	T	C	12: 76,048,643	V508A	probably benign	Het
Tkt	G	T	14: 30,565,607	R186L	probably damaging	Het
Trmt10a	T	A	3: 138,154,766	M241K	probably damaging	Het
Vgll2	C	A	10: 52,027,662	A207E	possibly damaging	Het
Vmn1r114	A	G	7: 20,811,618	F190S	probably damaging	Het
Xpot	C	T	10: 121,617,189		probably null	Het
Yrdc	G	A	4: 124,851,027	A85T	probably benign	Het
Zfp385c	C	T	11: 100,630,039	R265K	possibly damaging	Het
Zgrf1	A	T	3: 127,598,760	I1310F	probably damaging	Het

Other mutations in Nynrin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Nynrin	APN	14	55868448	missense	probably benign	0.38
IGL01131:Nynrin	APN	14	55872685	missense	probably damaging	1.00
IGL01357:Nynrin	APN	14	55870417	missense	probably benign
IGL01537:Nynrin	APN	14	55872045	missense	possibly damaging	0.87
IGL01583:Nynrin	APN	14	55870511	missense	probably damaging	1.00
IGL01726:Nynrin	APN	14	55864154	missense	probably benign
IGL02161:Nynrin	APN	14	55863984	missense	probably damaging	1.00
IGL02167:Nynrin	APN	14	55863335	missense	probably damaging	1.00
IGL02247:Nynrin	APN	14	55871710	nonsense	probably null
IGL02302:Nynrin	APN	14	55868505	missense	probably benign	0.43
IGL02524:Nynrin	APN	14	55871474	missense	possibly damaging	0.73
IGL02600:Nynrin	APN	14	55863992	missense	probably benign	0.38
IGL02639:Nynrin	APN	14	55870655	missense	probably damaging	1.00
IGL02654:Nynrin	APN	14	55863259	missense	possibly damaging	0.95
IGL02659:Nynrin	APN	14	55866097	unclassified	probably benign
IGL02736:Nynrin	APN	14	55870909	missense	probably damaging	1.00
IGL02949:Nynrin	APN	14	55872380	missense	probably damaging	0.99
PIT4458001:Nynrin	UTSW	14	55863968	missense	probably benign	0.39
R0017:Nynrin	UTSW	14	55872395	missense	probably damaging	1.00
R0078:Nynrin	UTSW	14	55863332	missense	probably damaging	1.00
R0211:Nynrin	UTSW	14	55871798	missense	probably benign	0.08
R0211:Nynrin	UTSW	14	55871798	missense	probably benign	0.08
R0413:Nynrin	UTSW	14	55872191	missense	possibly damaging	0.90
R0609:Nynrin	UTSW	14	55872761	missense	probably damaging	1.00
R0626:Nynrin	UTSW	14	55868035	missense	probably damaging	1.00
R1205:Nynrin	UTSW	14	55854189	intron	probably benign
R1222:Nynrin	UTSW	14	55863541	missense	probably benign	0.02
R1385:Nynrin	UTSW	14	55864899	missense	probably benign	0.00
R1820:Nynrin	UTSW	14	55870378	missense	possibly damaging	0.95
R1829:Nynrin	UTSW	14	55872947	missense	possibly damaging	0.50
R1874:Nynrin	UTSW	14	55863493	missense	probably benign	0.04
R1927:Nynrin	UTSW	14	55863592	missense	probably benign	0.00
R2233:Nynrin	UTSW	14	55872067	missense	possibly damaging	0.83
R3018:Nynrin	UTSW	14	55863410	missense	probably benign	0.00
R3154:Nynrin	UTSW	14	55863587	missense	possibly damaging	0.46
R3853:Nynrin	UTSW	14	55864105	missense	probably benign	0.24
R4648:Nynrin	UTSW	14	55872894	nonsense	probably null
R4722:Nynrin	UTSW	14	55854395	missense	probably damaging	0.97
R4735:Nynrin	UTSW	14	55870168	missense	probably benign	0.03
R4736:Nynrin	UTSW	14	55863997	missense	probably damaging	1.00
R4780:Nynrin	UTSW	14	55863263	missense	probably damaging	1.00
R4804:Nynrin	UTSW	14	55864869	missense	probably benign
R4816:Nynrin	UTSW	14	55872001	missense	probably damaging	1.00
R5307:Nynrin	UTSW	14	55863806	missense	probably damaging	1.00
R5372:Nynrin	UTSW	14	55868491	missense	probably benign	0.01
R5432:Nynrin	UTSW	14	55864466	missense	possibly damaging	0.80
R5800:Nynrin	UTSW	14	55870631	missense	probably damaging	1.00
R5825:Nynrin	UTSW	14	55864226	missense	probably benign	0.00
R6149:Nynrin	UTSW	14	55854323	missense	possibly damaging	0.83
R6244:Nynrin	UTSW	14	55868028	missense	probably damaging	1.00
R6350:Nynrin	UTSW	14	55868076	missense	probably benign	0.19
R6379:Nynrin	UTSW	14	55870391	missense	probably damaging	1.00
R6437:Nynrin	UTSW	14	55871770	missense	probably benign	0.00
R6501:Nynrin	UTSW	14	55863532	missense	probably benign
R6702:Nynrin	UTSW	14	55864478	missense	possibly damaging	0.80
R6703:Nynrin	UTSW	14	55864478	missense	possibly damaging	0.80
R6907:Nynrin	UTSW	14	55863878	missense	probably benign	0.20
R6908:Nynrin	UTSW	14	55863878	missense	probably benign	0.20
R6928:Nynrin	UTSW	14	55863878	missense	probably benign	0.20
R6934:Nynrin	UTSW	14	55863878	missense	probably benign	0.20
R6935:Nynrin	UTSW	14	55863878	missense	probably benign	0.20
R7197:Nynrin	UTSW	14	55871923	missense	probably benign	0.00
R7204:Nynrin	UTSW	14	55872733	missense	probably damaging	1.00
R7335:Nynrin	UTSW	14	55863914	missense	probably benign
R7361:Nynrin	UTSW	14	55870400	missense	possibly damaging	0.71
R7368:Nynrin	UTSW	14	55870511	missense	probably damaging	1.00
R7443:Nynrin	UTSW	14	55871416	missense	probably benign	0.18
R7584:Nynrin	UTSW	14	55871584	missense	probably damaging	1.00
R7677:Nynrin	UTSW	14	55870236	missense	probably benign
R7723:Nynrin	UTSW	14	55872045	missense	possibly damaging	0.87
R7776:Nynrin	UTSW	14	55865963	missense	probably damaging	1.00
R7787:Nynrin	UTSW	14	55870523	missense	probably benign
R7842:Nynrin	UTSW	14	55865096	missense	probably damaging	1.00
R7852:Nynrin	UTSW	14	55871429	missense	probably damaging	0.96
R8040:Nynrin	UTSW	14	55871525	missense	probably benign	0.01
R8159:Nynrin	UTSW	14	55863130	missense	probably damaging	0.99
R8159:Nynrin	UTSW	14	55865060	missense	probably benign
R8258:Nynrin	UTSW	14	55863358	missense	possibly damaging	0.95
R8259:Nynrin	UTSW	14	55863358	missense	possibly damaging	0.95
R8343:Nynrin	UTSW	14	55863791	missense	probably benign
R8504:Nynrin	UTSW	14	55870246	missense	probably benign	0.01
RF007:Nynrin	UTSW	14	55866201	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAACTGAGTGATGACGCTGAC -3'
(R):5'- TCAGAGATAACATCCCGGTGG -3'

Sequencing Primer
(F):5'- ACGCCGAACCTTTGGAGGATC -3'
(R):5'- GTGGGAATCCATGAAGCCC -3'

Posted On

2019-06-26