Mutagenetix > Incidental Mutation

Incidental Mutation 'R3154:Nynrin'

263426

Institutional Source

Beutler Lab

Gene Symbol

Nynrin

Ensembl Gene

ENSMUSG00000075592

Gene Name

NYN domain and retroviral integrase containing

Synonyms

MMRRC Submission

040605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55854010-55874736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55863587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 278 (Q278L)

Ref Sequence

ENSEMBL: ENSMUSP00000129557 (fasta)

Gene Model

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

AlphaFold

Q5DTZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100529
AA Change: Q278L

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: Q278L

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

possibly damaging
Transcript: ENSMUST00000168479
AA Change: Q278L

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: Q278L

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,440,824	N200H	probably damaging	Het
Abca17	T	A	17: 24,328,746	D218V	probably damaging	Het
Ap1b1	T	C	11: 5,023,135	V326A	possibly damaging	Het
Bdp1	A	T	13: 100,049,814	V1710E	probably damaging	Het
Chrna3	C	T	9: 55,016,050	C158Y	probably damaging	Het
Cnnm3	T	A	1: 36,521,222	S608T	probably damaging	Het
Cnot1	T	C	8: 95,744,278	E1314G	possibly damaging	Het
Cobll1	A	T	2: 65,107,050	M406K	probably benign	Het
Cyp2d34	T	C	15: 82,617,566	K248E	probably benign	Het
Dcdc2a	A	C	13: 25,102,357	I125L	probably benign	Het
Dgat1	G	A	15: 76,502,521	L439F	probably benign	Het
Disc1	T	A	8: 125,135,304	S472T	probably damaging	Het
Dnajb3	C	A	1: 88,205,051	V210F	probably benign	Het
Fancd2	A	G	6: 113,593,269	S1394G	possibly damaging	Het
Fasn	A	T	11: 120,807,939	L2475Q	probably damaging	Het
Fn1	A	T	1: 71,593,083	C2335S	probably damaging	Het
Gpld1	T	C	13: 24,943,620	S2P	unknown	Het
Gpld1	G	T	13: 24,956,163		probably null	Het
Gsc2	G	A	16: 17,914,500	R137W	probably damaging	Het
Gsdme	T	C	6: 50,251,363	R42G	probably damaging	Het
Gtf3c5	T	C	2: 28,579,536	T119A	probably damaging	Het
Hs6st3	T	C	14: 119,868,977	S266P	probably damaging	Het
Htr2a	T	C	14: 74,705,822	F281L	probably benign	Het
Hus1b	T	C	13: 30,947,253	K141R	probably benign	Het
Ireb2	T	C	9: 54,885,946		probably null	Het
Klhdc7a	T	A	4: 139,965,713	Y641F	probably benign	Het
Kri1	T	C	9: 21,281,894	E57G	possibly damaging	Het
Map4	A	G	9: 109,999,792	T82A	probably benign	Het
Mthfr	T	G	4: 148,051,604	M353R	probably benign	Het
Mtus2	A	G	5: 148,303,273		probably benign	Het
Muc5ac	T	A	7: 141,792,736		probably null	Het
Myo15	T	A	11: 60,479,360		probably null	Het
Pced1b	T	G	15: 97,384,542		probably null	Het
Penk	T	C	4: 4,134,152	D165G	probably damaging	Het
Pfkm	T	A	15: 98,118,209	V90D	probably damaging	Het
Pgk2	T	A	17: 40,208,243	D98V	probably damaging	Het
Psg28	C	A	7: 18,426,423	A283S	possibly damaging	Het
Rgl3	A	G	9: 21,980,774	L338P	probably damaging	Het
Rnf126	A	T	10: 79,761,631	I149N	probably damaging	Het
Ros1	T	C	10: 52,050,981	H2181R	probably benign	Het
Slc38a11	C	T	2: 65,330,335	C305Y	probably damaging	Het
Speg	T	A	1: 75,401,542	V798E	probably damaging	Het
Spesp1	G	A	9: 62,282,094		probably benign	Het
Styk1	A	T	6: 131,310,012	Y84*	probably null	Het
Syt2	T	C	1: 134,741,861	L80P	possibly damaging	Het
Tra2a	C	T	6: 49,245,512		probably benign	Het
Trim10	T	A	17: 36,871,688	C149S	probably damaging	Het
Vmn2r38	T	C	7: 9,094,690	T135A	probably benign	Het
Wipf1	A	G	2: 73,437,490	V188A	possibly damaging	Het
Yipf2	G	A	9: 21,589,901	A67V	probably benign	Het
Zfp759	A	G	13: 67,138,655	E96G	probably benign	Het
Zic3	G	A	X: 58,031,478	V100M	possibly 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
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'- AGACATCATTGAGTGGCTCG -3'
(R):5'- CACCTTGCTTGTTAGACTGGTC -3'

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

Posted On

2015-02-05