Mutagenetix > Incidental Mutation

Incidental Mutation 'R6379:Nynrin'

515228

Institutional Source

Beutler Lab

Gene Symbol

Nynrin

Ensembl Gene

ENSMUSG00000075592

Gene Name

NYN domain and retroviral integrase containing

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6379 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55854010-55874736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55870391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 985 (L985P)

Ref Sequence

ENSEMBL: ENSMUSP00000129557 (fasta)

Gene Model

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

AlphaFold

Q5DTZ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000100529
AA Change: L985P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: L985P

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: L985P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: L985P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181218

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,243,734	I99F	probably benign	Het
2010111I01Rik	T	A	13: 63,068,243	I443K	probably damaging	Het
6820408C15Rik	A	T	2: 152,427,992	R21S	probably benign	Het
9130011E15Rik	A	T	19: 45,921,697	V472D	possibly damaging	Het
9430007A20Rik	G	T	4: 144,522,342	R93L	probably benign	Het
9530053A07Rik	A	C	7: 28,157,592	T2122P	probably damaging	Het
Adcy5	A	T	16: 35,293,999	T991S	probably benign	Het
Aldh18a1	A	T	19: 40,577,770		probably null	Het
Anxa1	T	C	19: 20,373,715	*347W	probably null	Het
Arid1a	G	T	4: 133,680,927	L2090I	unknown	Het
Bambi	T	A	18: 3,512,198	L194Q	probably damaging	Het
Card9	A	G	2: 26,356,777	V353A	probably damaging	Het
Ccdc60	C	A	5: 116,131,023		probably null	Het
Ccdc71	A	G	9: 108,463,612	K208R	possibly damaging	Het
Cdh12	T	C	15: 21,492,657	V254A	probably benign	Het
Cep295nl	T	A	11: 118,333,730	N96I	probably benign	Het
Ces1f	C	A	8: 93,279,651	C17F	probably benign	Het
Clic6	C	A	16: 92,539,535	T577K	probably damaging	Het
Col28a1	T	C	6: 8,012,996	M1019V	probably benign	Het
Ctnnd2	C	A	15: 30,634,698	S73Y	probably damaging	Het
Daam1	C	T	12: 71,951,938	L556F	unknown	Het
Dchs2	A	C	3: 83,355,146	N2907T	probably damaging	Het
Dlgap3	A	C	4: 127,234,974	E829A	probably damaging	Het
Dpysl5	A	T	5: 30,777,973		probably null	Het
Draxin	C	A	4: 148,107,943	C304F	probably damaging	Het
Eif3j1	A	G	2: 122,047,524	D131G	possibly damaging	Het
Fads1	T	C	19: 10,183,187	Y46H	probably damaging	Het
Figla	T	A	6: 86,018,580	I72K	probably damaging	Het
Fnbp4	T	A	2: 90,751,124	S174T	probably benign	Het
Foxn3	C	A	12: 99,196,278	A455S	probably benign	Het
Fyn	C	T	10: 39,455,074		probably benign	Het
Gm17727	T	A	9: 35,778,085		probably benign	Het
Gtse1	G	A	15: 85,864,224	G277S	probably benign	Het
Hist1h2bn	T	A	13: 21,754,418	V99E	probably benign	Het
Icam4	C	A	9: 21,029,782	A110E	probably damaging	Het
Itih3	G	A	14: 30,909,724	S802L	probably damaging	Het
Kcng4	T	A	8: 119,633,620	R6*	probably null	Het
Kmt2c	A	T	5: 25,359,341	C977S	probably damaging	Het
Lrrc8d	A	T	5: 105,812,809	M362L	probably benign	Het
Mtus2	T	C	5: 148,077,198	I267T	probably benign	Het
Nab1	A	G	1: 52,480,997	V275A	probably damaging	Het
Nfasc	G	A	1: 132,570,542	Q1308*	probably null	Het
Nop9	T	C	14: 55,745,792	S7P	possibly damaging	Het
Npbwr1	G	T	1: 5,917,219	N25K	probably benign	Het
Nptx2	T	C	5: 144,553,442	L227P	probably damaging	Het
Nrg1	T	C	8: 32,883,721		probably benign	Het
Nup160	T	A	2: 90,702,409	C571*	probably null	Het
Obsl1	A	C	1: 75,503,143	L341R	probably damaging	Het
Olfr398	T	G	11: 73,984,273	S112R	probably damaging	Het
Phip	G	T	9: 82,913,857	N570K	probably damaging	Het
Pigx	A	T	16: 32,084,523	I240N	probably damaging	Het
Platr25	T	C	13: 62,706,237	D37G	probably damaging	Het
Ppl	A	T	16: 5,097,691	M639K	probably benign	Het
Pqlc2	G	A	4: 139,299,985	L349F	probably benign	Het
Scnn1b	T	G	7: 121,915,328	M441R	probably benign	Het
Sh3gl1	A	T	17: 56,019,143	M121K	probably damaging	Het
Slc30a4	A	T	2: 122,689,549	V132D	probably damaging	Het
Slc38a7	A	G	8: 95,848,527	S42P	probably benign	Het
Srp68	A	G	11: 116,265,401	C172R	probably damaging	Het
Suz12	A	T	11: 80,015,188	D292V	possibly damaging	Het
Sv2b	A	T	7: 75,136,300	D457E	possibly damaging	Het
Tas2r120	T	C	6: 132,657,810	V285A	probably benign	Het
Tdo2	T	A	3: 81,958,795		probably benign	Het
Them7	G	T	2: 105,284,686		probably null	Het
Tnip2	T	C	5: 34,503,635	T158A	probably damaging	Het
Tonsl	C	T	15: 76,629,742	R1209H	probably benign	Het
Trpc2	T	A	7: 102,096,091	L838*	probably null	Het
Trpm1	A	G	7: 64,199,194	I63V	probably benign	Het
Vps13d	A	T	4: 145,088,258	N90K	probably benign	Het
Ylpm1	C	T	12: 85,030,800	S1433F	probably damaging	Het
Zbtb18	A	G	1: 177,447,575	D158G	probably damaging	Het
Zfhx2	T	A	14: 55,074,338	T300S	probably benign	Het
Zscan2	T	A	7: 80,863,337	D23E	probably benign	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
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
R7272:Nynrin	UTSW	14	55870415	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
R8671:Nynrin	UTSW	14	55870442	missense	possibly damaging	0.52
R8691:Nynrin	UTSW	14	55872649	missense	probably damaging	1.00
R8777:Nynrin	UTSW	14	55871663	missense	probably benign
R8777-TAIL:Nynrin	UTSW	14	55871663	missense	probably benign
R9041:Nynrin	UTSW	14	55871296	missense	possibly damaging	0.83
R9346:Nynrin	UTSW	14	55863038	missense	probably benign	0.01
R9366:Nynrin	UTSW	14	55863130	missense	probably damaging	0.99
R9690:Nynrin	UTSW	14	55870747	missense	probably benign	0.00
RF007:Nynrin	UTSW	14	55866201	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTCTGAACTGAGTGATGACGC -3'
(R):5'- AGAGATAACATCCCGGTGGG -3'

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

Posted On

2018-05-04