Mutagenetix > Incidental Mutation

Incidental Mutation 'R1385:Nynrin'

163232

Institutional Source

Beutler Lab

Gene Symbol

Nynrin

Ensembl Gene

ENSMUSG00000075592

Gene Name

NYN domain and retroviral integrase containing

Synonyms

MMRRC Submission

039447-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56091572-56112193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56102356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 675 (Q675L)

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: Q675L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: Q675L

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: Q675L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: Q675L

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: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh7a1	A	G	18: 56,675,357 (GRCm39)	S269P	probably damaging	Het
Arf3	A	G	15: 98,640,494 (GRCm39)	V43A	probably damaging	Het
Arhgap1	C	A	2: 91,501,176 (GRCm39)	N457K	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Bltp3b	A	G	10: 89,626,503 (GRCm39)	N399S	possibly damaging	Het
Ccdc39	C	T	3: 33,875,561 (GRCm39)	E544K	probably damaging	Het
Cfap44	A	G	16: 44,291,138 (GRCm39)	E1546G	probably damaging	Het
Cntn6	A	G	6: 104,838,861 (GRCm39)	I900V	probably benign	Het
Edem1	A	G	6: 108,823,645 (GRCm39)	N347S	probably damaging	Het
Erich6	A	G	3: 58,544,251 (GRCm39)	I112T	probably benign	Het
Gemin2	A	G	12: 59,064,932 (GRCm39)		probably null	Het
Hunk	T	A	16: 90,269,374 (GRCm39)	V306E	possibly damaging	Het
Hydin	A	G	8: 111,249,836 (GRCm39)	I2260V	probably benign	Het
Insyn1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,406,715 (GRCm39)		probably benign	Het
Itgbl1	A	G	14: 123,898,923 (GRCm39)		probably null	Het
Iws1	T	A	18: 32,223,483 (GRCm39)	N630K	probably benign	Het
Lama2	C	A	10: 27,100,039 (GRCm39)	R822L	probably benign	Het
Lrrc56	A	G	7: 140,785,438 (GRCm39)	D130G	probably damaging	Het
Mageb11	T	A	X: 89,935,874 (GRCm39)	C43S	probably benign	Het
Malrd1	A	T	2: 16,047,039 (GRCm39)	I1722F	unknown	Het
Mark4	G	T	7: 19,159,952 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,874 (GRCm39)	V2940A	probably benign	Het
Mxd1	T	A	6: 86,628,549 (GRCm39)	Q62L	probably damaging	Het
Ncapd2	A	T	6: 125,150,078 (GRCm39)	S917T	probably benign	Het
Nr2c2	T	G	6: 92,131,451 (GRCm39)	F171C	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Ocstamp	T	C	2: 165,237,959 (GRCm39)	D435G	probably benign	Het
Pdzd2	T	C	15: 12,411,108 (GRCm39)	T553A	probably benign	Het
Pllp	A	G	8: 95,405,996 (GRCm39)	Y96H	probably benign	Het
Polg2	A	G	11: 106,659,149 (GRCm39)	S455P	probably damaging	Het
Ppp1r9b	A	G	11: 94,883,037 (GRCm39)	T222A	probably benign	Het
Prkcd	G	A	14: 30,329,362 (GRCm39)	T26I	probably damaging	Het
Prkcq	A	G	2: 11,261,097 (GRCm39)	H383R	probably damaging	Het
Prune2	A	G	19: 17,102,312 (GRCm39)	I2490M	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Scn9a	G	A	2: 66,393,886 (GRCm39)	P229L	probably damaging	Het
Serpinb5	A	G	1: 106,803,853 (GRCm39)	T180A	probably damaging	Het
Slc5a2	G	C	7: 127,869,803 (GRCm39)	R412P	probably damaging	Het
Sphk2	A	G	7: 45,361,715 (GRCm39)	I82T	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Treml1	T	G	17: 48,667,226 (GRCm39)	V37G	probably damaging	Het
Trim33	A	G	3: 103,218,266 (GRCm39)	K272E	possibly damaging	Het
Trpv6	T	C	6: 41,598,063 (GRCm39)	D748G	probably benign	Het
Ubr4	A	G	4: 139,129,923 (GRCm39)	H681R	probably benign	Het
Vmn2r82	A	T	10: 79,232,325 (GRCm39)	R775*	probably null	Het
Xpo1	T	C	11: 23,211,863 (GRCm39)	L8S	probably damaging	Het
Zfand4	G	A	6: 116,250,599 (GRCm39)	G10R	probably damaging	Het
Zfp119a	T	A	17: 56,172,826 (GRCm39)	H339L	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	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
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
R7272:Nynrin	UTSW	14	56,107,872 (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'- AAAGTGCCTTCGGCTCCAACAG -3'
(R):5'- CCAGGCTCCTCAGACAAGTTCATC -3'

Sequencing Primer
(F):5'- TTCAGTGAAAACACTCGCAGG -3'
(R):5'- CATCTCGAACGGTGTGTTCAAG -3'

Posted On

2014-03-17