Mutagenetix > Incidental Mutation

Incidental Mutation 'R6437:Nynrin'

518831

Institutional Source

Beutler Lab

Gene Symbol

Nynrin

Ensembl Gene

ENSMUSG00000075592

Gene Name

NYN domain and retroviral integrase containing

Synonyms

MMRRC Submission

044575-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56091572-56112193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56109227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1445 (S1445P)

Ref Sequence

ENSEMBL: ENSMUSP00000129557 (fasta)

Gene Model

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

AlphaFold

Q5DTZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000100529
AA Change: S1445P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: S1445P

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: S1445P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: S1445P

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

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	T	A	3: 37,582,347 (GRCm39)	V794E	probably damaging	Het
Agrn	C	T	4: 156,261,235 (GRCm39)	V514I	probably damaging	Het
Atg16l1	T	C	1: 87,718,370 (GRCm39)	L545P	probably damaging	Het
Ces3b	T	A	8: 105,819,238 (GRCm39)	D431E	probably damaging	Het
Cracr2a	A	G	6: 127,608,794 (GRCm39)	D291G	probably damaging	Het
Csmd2	T	G	4: 127,881,893 (GRCm39)	C11G	probably benign	Het
Cstdc3	A	G	16: 36,132,999 (GRCm39)	E92G	probably damaging	Het
Dido1	A	G	2: 180,316,806 (GRCm39)	I127T	probably damaging	Het
Dpp8	A	T	9: 64,981,860 (GRCm39)	Y714F	probably benign	Het
Efcab5	G	A	11: 77,028,728 (GRCm39)	A201V	probably benign	Het
Eif3h	C	T	15: 51,662,660 (GRCm39)	V129I	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fars2	G	A	13: 36,388,846 (GRCm39)	V112I	probably benign	Het
Fbn2	T	G	18: 58,246,435 (GRCm39)	D489A	probably damaging	Het
Frmd4b	G	T	6: 97,273,228 (GRCm39)	S675R	probably damaging	Het
Fsip2	C	T	2: 82,813,836 (GRCm39)	S3385F	possibly damaging	Het
Gtpbp10	A	G	5: 5,607,406 (GRCm39)	Y12H	probably damaging	Het
Kcng3	A	G	17: 83,938,558 (GRCm39)	S164P	probably damaging	Het
Kifap3	T	A	1: 163,685,095 (GRCm39)	L483Q	probably damaging	Het
Klk10	A	G	7: 43,432,241 (GRCm39)	H58R	probably benign	Het
Kntc1	T	G	5: 123,907,754 (GRCm39)	W452G	probably damaging	Het
Krt87	C	T	15: 101,336,273 (GRCm39)	D127N	possibly damaging	Het
Ldaf1	A	T	7: 119,715,584 (GRCm39)		probably null	Het
Lipm	A	G	19: 34,098,657 (GRCm39)	Y377C	probably damaging	Het
Mrc2	G	A	11: 105,240,669 (GRCm39)	R1453H	probably damaging	Het
Nat1	T	C	8: 67,944,388 (GRCm39)	F255L	possibly damaging	Het
Neb	C	T	2: 52,147,569 (GRCm39)		probably null	Het
Nek5	T	A	8: 22,575,476 (GRCm39)	D491V	possibly damaging	Het
Oog2	T	A	4: 143,921,678 (GRCm39)		probably null	Het
Or2j6	C	T	7: 139,980,434 (GRCm39)	C175Y	probably damaging	Het
Pafah1b1	T	C	11: 74,568,557 (GRCm39)	T391A	probably benign	Het
Pcdhb7	T	C	18: 37,475,743 (GRCm39)	L293P	probably damaging	Het
Plce1	A	T	19: 38,513,576 (GRCm39)	T292S	probably benign	Het
Pold1	G	A	7: 44,188,202 (GRCm39)	R559C	probably damaging	Het
Rfx7	A	G	9: 72,525,768 (GRCm39)	Q986R	possibly damaging	Het
Rrp9	G	T	9: 106,360,150 (GRCm39)	R186L	probably benign	Het
Samm50	T	A	15: 84,088,298 (GRCm39)		probably null	Het
Scoc	T	C	8: 84,164,616 (GRCm39)	D7G	probably benign	Het
Smad9	C	T	3: 54,693,505 (GRCm39)	P145S	probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snrk	A	G	9: 121,995,879 (GRCm39)	R553G	probably damaging	Het
Srcap	T	A	7: 127,127,722 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,037,188 (GRCm39)	V3789E	possibly damaging	Het
Thsd7b	T	C	1: 129,744,419 (GRCm39)	I769T	probably damaging	Het
Ttc7	A	G	17: 87,637,534 (GRCm39)	K430E	probably damaging	Het
Ubr4	T	A	4: 139,124,525 (GRCm39)		probably null	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vmn2r37	G	T	7: 9,220,850 (GRCm39)	Q338K	probably damaging	Het
Yod1	T	C	1: 130,646,885 (GRCm39)	V254A	probably damaging	Het
Zfpm2	T	C	15: 40,962,793 (GRCm39)	S152P	probably benign	Het
Zmym2	T	A	14: 57,140,461 (GRCm39)	L100H	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
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'- TCTACCGAACCTCTTATCGGG -3'
(R):5'- TATAGGTGTCCTCTAGCCCC -3'

Sequencing Primer
(F):5'- TGCTGTGACAGTGGACACTC -3'
(R):5'- CCTGGTGTTCCCCAATGG -3'

Posted On

2018-05-24