Mutagenetix > Incidental Mutation

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

045391-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56091572-56112193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56107872 bp (GRCm39)

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]

AlphaFold

Q5DTZ0

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: 77,471,655 (GRCm39)	I1020T	probably benign	Het
2310057N15Rik	A	T	16: 88,570,523 (GRCm39)	Y172*	probably null	Het
4930558K02Rik	T	A	1: 161,770,092 (GRCm39)	Y139F	possibly damaging	Het
A830018L16Rik	T	G	1: 11,658,695 (GRCm39)	M202R	probably damaging	Het
Abca12	T	C	1: 71,287,591 (GRCm39)	E2450G	probably damaging	Het
Ank2	C	T	3: 126,736,782 (GRCm39)	R3034H	unknown	Het
Anxa9	A	G	3: 95,213,184 (GRCm39)	I54T	probably damaging	Het
Ash1l	A	G	3: 88,961,941 (GRCm39)		probably null	Het
Aspm	T	C	1: 139,386,066 (GRCm39)	I570T	probably benign	Het
Bcar3	A	T	3: 122,302,045 (GRCm39)	I247F	possibly damaging	Het
Cep350	A	G	1: 155,829,334 (GRCm39)	V130A	probably damaging	Het
Cep89	A	T	7: 35,137,888 (GRCm39)	R757S	probably benign	Het
Cryga	A	T	1: 65,142,381 (GRCm39)	I4N	probably damaging	Het
Cyp2d26	T	A	15: 82,676,764 (GRCm39)	Y194F	probably benign	Het
Edn2	G	A	4: 120,019,143 (GRCm39)	R44H	probably damaging	Het
Ep400	G	A	5: 110,903,511 (GRCm39)	Q363*	probably null	Het
Gpr33	T	C	12: 52,070,848 (GRCm39)	T64A	probably damaging	Het
Ice2	T	A	9: 69,324,365 (GRCm39)	S763T	possibly damaging	Het
Itgad	C	A	7: 127,804,245 (GRCm39)	F1169L	probably damaging	Het
Kcnv1	A	G	15: 44,976,576 (GRCm39)	L237P	probably benign	Het
Kctd18	T	C	1: 57,995,710 (GRCm39)	E356G	probably damaging	Het
Krt33a	C	T	11: 99,902,837 (GRCm39)	R329Q	probably damaging	Het
Lama2	C	A	10: 27,000,552 (GRCm39)	G1657C	probably damaging	Het
Marchf3	T	G	18: 56,895,593 (GRCm39)	R217S	probably benign	Het
Mmel1	A	T	4: 154,978,547 (GRCm39)	T660S	probably damaging	Het
Ms4a7	T	A	19: 11,310,642 (GRCm39)	K59*	probably null	Het
Mss51	G	A	14: 20,534,981 (GRCm39)	T263I	probably damaging	Het
Ncaph2	A	G	15: 89,248,385 (GRCm39)	M199V	probably benign	Het
Ndufa4	G	A	6: 11,905,209 (GRCm39)	Q62*	probably null	Het
Nectin4	A	G	1: 171,214,212 (GRCm39)	T456A	probably damaging	Het
Nek1	T	C	8: 61,578,120 (GRCm39)	M1214T	probably benign	Het
Nsf	T	A	11: 103,718,064 (GRCm39)	L710F	probably damaging	Het
Or1e31	T	A	11: 73,689,695 (GRCm39)	D296V	probably damaging	Het
Pbk	T	A	14: 66,052,621 (GRCm39)	Y155N	probably damaging	Het
Plec	T	C	15: 76,059,153 (GRCm39)	I3595V	possibly damaging	Het
Pom121	G	A	5: 135,409,941 (GRCm39)	T1072I	unknown	Het
Sdc1	T	A	12: 8,840,554 (GRCm39)	H106Q	probably benign	Het
Slc44a3	T	C	3: 121,254,764 (GRCm39)	D618G	probably damaging	Het
Slc9c1	A	G	16: 45,401,878 (GRCm39)	D755G	possibly damaging	Het
Slfn9	T	C	11: 82,872,387 (GRCm39)	Y783C	probably benign	Het
Sorl1	C	T	9: 41,975,006 (GRCm39)		probably null	Het
Spindoc	C	T	19: 7,360,085 (GRCm39)	E28K	possibly damaging	Het
Sptbn1	T	C	11: 30,064,859 (GRCm39)	D1880G	possibly damaging	Het
Sspn	T	A	6: 145,907,200 (GRCm39)	D210E	probably benign	Het
Stx12	A	T	4: 132,584,687 (GRCm39)	I219K	possibly damaging	Het
Syne2	T	C	12: 76,095,417 (GRCm39)	V508A	probably benign	Het
Tkt	G	T	14: 30,287,564 (GRCm39)	R186L	probably damaging	Het
Trmt10a	T	A	3: 137,860,527 (GRCm39)	M241K	probably damaging	Het
Vgll2	C	A	10: 51,903,758 (GRCm39)	A207E	possibly damaging	Het
Vmn1r114	A	G	7: 20,545,543 (GRCm39)	F190S	probably damaging	Het
Xpot	C	T	10: 121,453,094 (GRCm39)		probably null	Het
Yrdc	G	A	4: 124,744,820 (GRCm39)	A85T	probably benign	Het
Zfp385c	C	T	11: 100,520,865 (GRCm39)	R265K	possibly damaging	Het
Zgrf1	A	T	3: 127,392,409 (GRCm39)	I1310F	probably damaging	Het

Other mutations in Nynrin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Nynrin	APN	14	56,105,905 (GRCm39)	missense	probably benign	0.38
IGL01131:Nynrin	APN	14	56,110,142 (GRCm39)	missense	probably damaging	1.00
IGL01357:Nynrin	APN	14	56,107,874 (GRCm39)	missense	probably benign
IGL01537:Nynrin	APN	14	56,109,502 (GRCm39)	missense	possibly damaging	0.87
IGL01583:Nynrin	APN	14	56,107,968 (GRCm39)	missense	probably damaging	1.00
IGL01726:Nynrin	APN	14	56,101,611 (GRCm39)	missense	probably benign
IGL02161:Nynrin	APN	14	56,101,441 (GRCm39)	missense	probably damaging	1.00
IGL02167:Nynrin	APN	14	56,100,792 (GRCm39)	missense	probably damaging	1.00
IGL02247:Nynrin	APN	14	56,109,167 (GRCm39)	nonsense	probably null
IGL02302:Nynrin	APN	14	56,105,962 (GRCm39)	missense	probably benign	0.43
IGL02524:Nynrin	APN	14	56,108,931 (GRCm39)	missense	possibly damaging	0.73
IGL02600:Nynrin	APN	14	56,101,449 (GRCm39)	missense	probably benign	0.38
IGL02639:Nynrin	APN	14	56,108,112 (GRCm39)	missense	probably damaging	1.00
IGL02654:Nynrin	APN	14	56,100,716 (GRCm39)	missense	possibly damaging	0.95
IGL02659:Nynrin	APN	14	56,103,554 (GRCm39)	unclassified	probably benign
IGL02736:Nynrin	APN	14	56,108,366 (GRCm39)	missense	probably damaging	1.00
IGL02949:Nynrin	APN	14	56,109,837 (GRCm39)	missense	probably damaging	0.99
PIT4458001:Nynrin	UTSW	14	56,101,425 (GRCm39)	missense	probably benign	0.39
R0017:Nynrin	UTSW	14	56,109,852 (GRCm39)	missense	probably damaging	1.00
R0078:Nynrin	UTSW	14	56,100,789 (GRCm39)	missense	probably damaging	1.00
R0211:Nynrin	UTSW	14	56,109,255 (GRCm39)	missense	probably benign	0.08
R0211:Nynrin	UTSW	14	56,109,255 (GRCm39)	missense	probably benign	0.08
R0413:Nynrin	UTSW	14	56,109,648 (GRCm39)	missense	possibly damaging	0.90
R0609:Nynrin	UTSW	14	56,110,218 (GRCm39)	missense	probably damaging	1.00
R0626:Nynrin	UTSW	14	56,105,492 (GRCm39)	missense	probably damaging	1.00
R1205:Nynrin	UTSW	14	56,091,646 (GRCm39)	intron	probably benign
R1222:Nynrin	UTSW	14	56,100,998 (GRCm39)	missense	probably benign	0.02
R1385:Nynrin	UTSW	14	56,102,356 (GRCm39)	missense	probably benign	0.00
R1820:Nynrin	UTSW	14	56,107,835 (GRCm39)	missense	possibly damaging	0.95
R1829:Nynrin	UTSW	14	56,110,404 (GRCm39)	missense	possibly damaging	0.50
R1874:Nynrin	UTSW	14	56,100,950 (GRCm39)	missense	probably benign	0.04
R1927:Nynrin	UTSW	14	56,101,049 (GRCm39)	missense	probably benign	0.00
R2233:Nynrin	UTSW	14	56,109,524 (GRCm39)	missense	possibly damaging	0.83
R3018:Nynrin	UTSW	14	56,100,867 (GRCm39)	missense	probably benign	0.00
R3154:Nynrin	UTSW	14	56,101,044 (GRCm39)	missense	possibly damaging	0.46
R3853:Nynrin	UTSW	14	56,101,562 (GRCm39)	missense	probably benign	0.24
R4648:Nynrin	UTSW	14	56,110,351 (GRCm39)	nonsense	probably null
R4722:Nynrin	UTSW	14	56,091,852 (GRCm39)	missense	probably damaging	0.97
R4735:Nynrin	UTSW	14	56,107,625 (GRCm39)	missense	probably benign	0.03
R4736:Nynrin	UTSW	14	56,101,454 (GRCm39)	missense	probably damaging	1.00
R4780:Nynrin	UTSW	14	56,100,720 (GRCm39)	missense	probably damaging	1.00
R4804:Nynrin	UTSW	14	56,102,326 (GRCm39)	missense	probably benign
R4816:Nynrin	UTSW	14	56,109,458 (GRCm39)	missense	probably damaging	1.00
R5307:Nynrin	UTSW	14	56,101,263 (GRCm39)	missense	probably damaging	1.00
R5372:Nynrin	UTSW	14	56,105,948 (GRCm39)	missense	probably benign	0.01
R5432:Nynrin	UTSW	14	56,101,923 (GRCm39)	missense	possibly damaging	0.80
R5800:Nynrin	UTSW	14	56,108,088 (GRCm39)	missense	probably damaging	1.00
R5825:Nynrin	UTSW	14	56,101,683 (GRCm39)	missense	probably benign	0.00
R6149:Nynrin	UTSW	14	56,091,780 (GRCm39)	missense	possibly damaging	0.83
R6244:Nynrin	UTSW	14	56,105,485 (GRCm39)	missense	probably damaging	1.00
R6350:Nynrin	UTSW	14	56,105,533 (GRCm39)	missense	probably benign	0.19
R6379:Nynrin	UTSW	14	56,107,848 (GRCm39)	missense	probably damaging	1.00
R6437:Nynrin	UTSW	14	56,109,227 (GRCm39)	missense	probably benign	0.00
R6501:Nynrin	UTSW	14	56,100,989 (GRCm39)	missense	probably benign
R6702:Nynrin	UTSW	14	56,101,935 (GRCm39)	missense	possibly damaging	0.80
R6703:Nynrin	UTSW	14	56,101,935 (GRCm39)	missense	possibly damaging	0.80
R6907:Nynrin	UTSW	14	56,101,335 (GRCm39)	missense	probably benign	0.20
R6908:Nynrin	UTSW	14	56,101,335 (GRCm39)	missense	probably benign	0.20
R6928:Nynrin	UTSW	14	56,101,335 (GRCm39)	missense	probably benign	0.20
R6934:Nynrin	UTSW	14	56,101,335 (GRCm39)	missense	probably benign	0.20
R6935:Nynrin	UTSW	14	56,101,335 (GRCm39)	missense	probably benign	0.20
R7197:Nynrin	UTSW	14	56,109,380 (GRCm39)	missense	probably benign	0.00
R7204:Nynrin	UTSW	14	56,110,190 (GRCm39)	missense	probably damaging	1.00
R7335:Nynrin	UTSW	14	56,101,371 (GRCm39)	missense	probably benign
R7361:Nynrin	UTSW	14	56,107,857 (GRCm39)	missense	possibly damaging	0.71
R7368:Nynrin	UTSW	14	56,107,968 (GRCm39)	missense	probably damaging	1.00
R7443:Nynrin	UTSW	14	56,108,873 (GRCm39)	missense	probably benign	0.18
R7584:Nynrin	UTSW	14	56,109,041 (GRCm39)	missense	probably damaging	1.00
R7677:Nynrin	UTSW	14	56,107,693 (GRCm39)	missense	probably benign
R7723:Nynrin	UTSW	14	56,109,502 (GRCm39)	missense	possibly damaging	0.87
R7776:Nynrin	UTSW	14	56,103,420 (GRCm39)	missense	probably damaging	1.00
R7787:Nynrin	UTSW	14	56,107,980 (GRCm39)	missense	probably benign
R7842:Nynrin	UTSW	14	56,102,553 (GRCm39)	missense	probably damaging	1.00
R7852:Nynrin	UTSW	14	56,108,886 (GRCm39)	missense	probably damaging	0.96
R8040:Nynrin	UTSW	14	56,108,982 (GRCm39)	missense	probably benign	0.01
R8159:Nynrin	UTSW	14	56,102,517 (GRCm39)	missense	probably benign
R8159:Nynrin	UTSW	14	56,100,587 (GRCm39)	missense	probably damaging	0.99
R8258:Nynrin	UTSW	14	56,100,815 (GRCm39)	missense	possibly damaging	0.95
R8259:Nynrin	UTSW	14	56,100,815 (GRCm39)	missense	possibly damaging	0.95
R8343:Nynrin	UTSW	14	56,101,248 (GRCm39)	missense	probably benign
R8504:Nynrin	UTSW	14	56,107,703 (GRCm39)	missense	probably benign	0.01
R8671:Nynrin	UTSW	14	56,107,899 (GRCm39)	missense	possibly damaging	0.52
R8691:Nynrin	UTSW	14	56,110,106 (GRCm39)	missense	probably damaging	1.00
R8777:Nynrin	UTSW	14	56,109,120 (GRCm39)	missense	probably benign
R8777-TAIL:Nynrin	UTSW	14	56,109,120 (GRCm39)	missense	probably benign
R9041:Nynrin	UTSW	14	56,108,753 (GRCm39)	missense	possibly damaging	0.83
R9346:Nynrin	UTSW	14	56,100,495 (GRCm39)	missense	probably benign	0.01
R9366:Nynrin	UTSW	14	56,100,587 (GRCm39)	missense	probably damaging	0.99
R9690:Nynrin	UTSW	14	56,108,204 (GRCm39)	missense	probably benign	0.00
RF007:Nynrin	UTSW	14	56,103,658 (GRCm39)	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