Mutagenetix > Incidental Mutation

Incidental Mutation 'R8159:Nynrin'

633446

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 #

R8159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55854010-55874736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55863130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 126 (S126A)

Ref Sequence

ENSEMBL: ENSMUSP00000098098 (fasta)

Gene Model

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

AlphaFold

Q5DTZ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000100529
AA Change: S126A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: S126A

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: S126A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: S126A

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

probably damaging
Transcript: ENSMUST00000227465
AA Change: S126A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.0619

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	T	16: 14,472,930	T1468I	probably damaging	Het
Adrb3	A	C	8: 27,228,071	C117G	probably benign	Het
Aff4	A	T	11: 53,411,894	S1065C	possibly damaging	Het
Agrn	G	A	4: 156,172,368	A1260V	probably benign	Het
Auts2	A	G	5: 131,460,125		probably null	Het
BC005537	T	A	13: 24,809,933	H159Q	probably benign	Het
C130079G13Rik	C	A	3: 59,936,422	P179Q	probably damaging	Het
Cacna2d4	A	G	6: 119,297,527	D625G	probably benign	Het
Cd72	A	G	4: 43,450,174	Y245H	probably damaging	Het
Ceacam20	G	T	7: 19,976,184	V378L	probably damaging	Het
Chpf	C	T	1: 75,478,792	R105K	probably null	Het
Chst9	A	T	18: 15,452,308	Y399*	probably null	Het
Cntn5	A	G	9: 10,145,381	I108T	possibly damaging	Het
Col14a1	A	G	15: 55,427,928	T931A	unknown	Het
D630045J12Rik	T	C	6: 38,128,475	H1890R	probably damaging	Het
Dkk2	T	C	3: 132,174,978	I128T	probably benign	Het
Ece2	C	T	16: 20,611,784	P54S	probably damaging	Het
Fam160b1	T	C	19: 57,384,265		probably null	Het
Fry	A	T	5: 150,399,533	T1050S	probably benign	Het
Gfra2	A	G	14: 70,895,957	K76E	probably damaging	Het
Gigyf1	A	T	5: 137,522,195	D423V	unknown	Het
Gpr180	G	A	14: 118,153,890	G235R	probably damaging	Het
Herc1	A	G	9: 66,461,721	Q403R	probably null	Het
Hes5	A	G	4: 154,961,045	N17S	probably benign	Het
Insrr	T	A	3: 87,800,428	L59H	probably damaging	Het
Irs1	A	C	1: 82,288,569	I642S	probably damaging	Het
Mettl22	T	C	16: 8,488,769	V363A	probably benign	Het
Mpp6	A	T	6: 50,194,547	E392V	probably benign	Het
Notch2	A	G	3: 98,120,922	H983R	possibly damaging	Het
Olfr18	A	C	9: 20,314,719	I67S	possibly damaging	Het
Olfr620	G	A	7: 103,612,140	T71I	possibly damaging	Het
Otof	C	T	5: 30,380,194	G1257D	probably benign	Het
Pcdhgc5	A	G	18: 37,821,122	E483G	probably benign	Het
Phldb2	T	C	16: 45,860,384	E20G	possibly damaging	Het
Ptprz1	A	G	6: 23,001,663	I1251V	probably benign	Het
Rfx2	A	T	17: 56,803,605	M127K	probably benign	Het
Slc9a3	A	G	13: 74,164,288	N668S	probably benign	Het
Smg6	G	A	11: 75,038,639	V965M	probably damaging	Het
Spen	A	T	4: 141,475,003	H2104Q	possibly damaging	Het
Svep1	C	T	4: 58,069,396	E2797K	possibly damaging	Het
Svep1	T	C	4: 58,087,815	S1755G	probably benign	Het
Sycp2	A	C	2: 178,354,977	S1144R	probably damaging	Het
Tsen54	T	A	11: 115,820,978	L407*	probably null	Het
Uba1y	T	A	Y: 828,806	I538K	possibly damaging	Het
Vil1	C	A	1: 74,423,977	H440N	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
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	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'- TTGGGGTTAGCCACTAACAG -3'
(R):5'- AAGCTGCAGCAAGTCTCCTG -3'

Sequencing Primer
(F):5'- TCTGCCCAGGAATATCTGAAAGGTC -3'
(R):5'- TGCATACTTGTCACAACGGATC -3'

Posted On

2020-07-13