Mutagenetix > Incidental Mutation

Incidental Mutation 'R1927:Nynrin'

214987

Institutional Source

Beutler Lab

Gene Symbol

Nynrin

Ensembl Gene

ENSMUSG00000075592

Gene Name

NYN domain and retroviral integrase containing

Synonyms

MMRRC Submission

039945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55854010-55874736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55863592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 280 (T280A)

Ref Sequence

ENSEMBL: ENSMUSP00000129557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100529] [ENSMUST00000168479] [ENSMUST00000227465]

AlphaFold

Q5DTZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000100529
AA Change: T280A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: T280A

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 benign
Transcript: ENSMUST00000168479
AA Change: T280A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: T280A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227465

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,636,379	S31P	probably damaging	Het
Abca12	G	T	1: 71,244,840	H2524Q	probably damaging	Het
Acsl5	T	C	19: 55,278,154	V135A	probably benign	Het
Actl11	T	G	9: 107,929,537	L353R	possibly damaging	Het
Adcy6	G	T	15: 98,598,498		probably null	Het
B230104I21Rik	A	G	4: 154,341,237	I697T	probably damaging	Het
BC061237	G	A	14: 44,501,243	R33K	possibly damaging	Het
Brf1	C	A	12: 113,000,344	V5F	possibly damaging	Het
Chmp2a	C	T	7: 13,033,936	A21T	possibly damaging	Het
Cwh43	A	G	5: 73,453,074	N607S	probably benign	Het
Ddhd2	G	A	8: 25,741,661	L445F	possibly damaging	Het
Dicer1	C	A	12: 104,702,884	D1180Y	possibly damaging	Het
Dock5	A	T	14: 67,846,062	S133T	possibly damaging	Het
Dyx1c1	A	T	9: 72,960,627	I57L	probably damaging	Het
Efs	A	T	14: 54,917,163	C540S	possibly damaging	Het
Ehd4	C	T	2: 120,091,492	G428S	probably benign	Het
Eml1	C	T	12: 108,538,217	R812*	probably null	Het
Enpp1	C	T	10: 24,654,888	D557N	possibly damaging	Het
Fn3krp	A	G	11: 121,424,977	T65A	probably damaging	Het
Galnt5	A	G	2: 57,998,603	R72G	probably benign	Het
Gfod1	C	T	13: 43,200,860	R213H	possibly damaging	Het
Gm10518	A	G	1: 179,803,645		probably benign	Het
Gm5431	A	G	11: 48,889,255	F558S	probably damaging	Het
Got1	C	T	19: 43,515,680		probably null	Het
Gucy2g	C	T	19: 55,237,759	V242I	probably benign	Het
Hdgfl2	T	A	17: 56,099,874	V606E	possibly damaging	Het
Hoxa3	T	C	6: 52,169,999		probably benign	Het
Iqub	T	A	6: 24,491,671	I339L	probably benign	Het
Kdm4c	C	T	4: 74,345,483	T668I	probably benign	Het
Klhl32	T	C	4: 24,617,474	I592V	probably benign	Het
Mfsd12	G	T	10: 81,362,087	M296I	probably benign	Het
Mfsd4b4	C	T	10: 39,892,441	A219T	probably damaging	Het
Mrpl52	T	C	14: 54,426,957	S9P	possibly damaging	Het
Nbr1	A	G	11: 101,567,214	Y273C	possibly damaging	Het
Ncf4	G	T	15: 78,260,646	G217V	probably damaging	Het
Neo1	T	C	9: 58,990,385	E96G	probably benign	Het
Nid2	T	A	14: 19,768,276	N279K	probably damaging	Het
Nr5a2	A	G	1: 136,944,994	Y56H	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1364	A	G	13: 21,574,256	F67L	probably benign	Het
Olfr1367	T	A	13: 21,346,946	I6N	probably benign	Het
Olfr1463	T	C	19: 13,235,029	Y260H	probably damaging	Het
Olfr545	A	G	7: 102,494,059	S239P	possibly damaging	Het
Olfr97	A	G	17: 37,231,543	Y276H	probably damaging	Het
Otog	G	A	7: 46,246,283	C107Y	probably damaging	Het
Ptprn	A	G	1: 75,254,122	V565A	probably benign	Het
Rbm6	T	G	9: 107,852,903	D182A	probably damaging	Het
Rhbg	A	G	3: 88,244,552	F400L	probably benign	Het
Rpl22l1	T	A	3: 28,806,589	N33K	possibly damaging	Het
Rtp1	T	A	16: 23,431,209	I108N	probably damaging	Het
Sema6b	A	T	17: 56,132,797	F15I	probably benign	Het
Sirpa	C	T	2: 129,616,376	T304I	possibly damaging	Het
Slc22a29	A	G	19: 8,207,066	I257T	probably benign	Het
Slc41a1	T	C	1: 131,841,200	I256T	probably damaging	Het
Smg6	A	G	11: 75,142,848	K1208R	probably damaging	Het
Sorcs1	G	T	19: 50,222,195	P744Q	probably damaging	Het
Sptbn5	T	C	2: 120,070,462	T213A	probably benign	Het
St18	A	G	1: 6,802,712	T224A	probably benign	Het
Stat3	T	C	11: 100,894,829	N465S	probably damaging	Het
Stmn2	T	A	3: 8,545,576	M40K	probably benign	Het
Tespa1	A	G	10: 130,348,239	D63G	probably benign	Het
Thrb	T	A	14: 18,008,674	C133S	probably damaging	Het
Tmem25	C	T	9: 44,796,483	V172M	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trhde	T	A	10: 114,800,849	Y151F	probably damaging	Het
Trp53bp2	A	G	1: 182,452,664	T912A	probably damaging	Het
Unc79	C	A	12: 103,169,692	A2269E	probably damaging	Het
Zfp507	C	T	7: 35,793,725	R631Q	probably damaging	Het
Zfp758	T	G	17: 22,375,842	S436R	probably damaging	Het
Zfp791	G	T	8: 85,110,683	T184K	probably benign	Het
Znrf3	A	G	11: 5,281,062	V817A	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
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
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'- TGGCATCTCTGGTACTTGCC -3'
(R):5'- GATTCTCAGAGTCCTGGCTG -3'

Sequencing Primer
(F):5'- TGGTACTTGCCCCAACCCAG -3'
(R):5'- CAGAGTCCTGGCTGCTGGTG -3'

Posted On

2014-07-14