Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Nynrin'

528833

Institutional Source

Beutler Lab

Gene Symbol

Nynrin

Ensembl Gene

ENSMUSG00000075592

Gene Name

NYN domain and retroviral integrase containing

Synonyms

MMRRC Submission

044820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56091572-56112193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56101935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 535 (T535A)

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: T535A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: T535A

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: T535A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: T535A

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

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,497,558 (GRCm39)	Y66*	probably null	Het
Ak3	A	G	19: 29,003,627 (GRCm39)	V183A	probably damaging	Het
Ano10	G	T	9: 122,088,630 (GRCm39)	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,648,058 (GRCm39)		probably null	Het
Brpf3	A	C	17: 29,029,633 (GRCm39)	N531T	probably benign	Het
Casp2	T	C	6: 42,244,985 (GRCm39)	V128A	probably benign	Het
Cdcp2	T	C	4: 106,964,283 (GRCm39)	C378R	probably benign	Het
Cfap54	T	A	10: 92,704,596 (GRCm39)	D2828V	unknown	Het
Col6a3	T	C	1: 90,707,161 (GRCm39)	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,100,608 (GRCm39)	T93A	probably benign	Het
Ddx54	T	A	5: 120,764,568 (GRCm39)	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,376,571 (GRCm39)	S56P	probably damaging	Het
Dna2	T	A	10: 62,809,073 (GRCm39)	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,882,869 (GRCm39)	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,146,256 (GRCm39)	F296L	probably benign	Het
Fat1	A	G	8: 45,406,083 (GRCm39)	T945A	probably benign	Het
Herpud1	T	C	8: 95,119,154 (GRCm39)		probably null	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Kif26b	C	G	1: 178,744,852 (GRCm39)	S1649R	possibly damaging	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,285,031 (GRCm39)	S290P	probably benign	Het
Map4k1	T	G	7: 28,701,821 (GRCm39)	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,773,525 (GRCm39)	C134S	possibly damaging	Het
Myo15a	A	G	11: 60,383,818 (GRCm39)	I1622V	probably benign	Het
Nbea	A	G	3: 55,912,923 (GRCm39)	Y955H	probably benign	Het
Ndor1	A	G	2: 25,139,902 (GRCm39)	F142S	possibly damaging	Het
Or4k15	A	G	14: 50,364,688 (GRCm39)	Y218C	probably damaging	Het
Or4k42	T	A	2: 111,320,454 (GRCm39)		probably null	Het
Or5ac23	C	T	16: 59,148,961 (GRCm39)	V304I	probably benign	Het
Or5d46	G	A	2: 88,170,586 (GRCm39)	V226I	probably benign	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,577,828 (GRCm39)	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,474,959 (GRCm39)	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Per2	C	T	1: 91,355,671 (GRCm39)	E696K	probably damaging	Het
Pld4	T	C	12: 112,731,485 (GRCm39)	S213P	probably damaging	Het
Prkg1	T	A	19: 30,970,484 (GRCm39)	H209L	probably benign	Het
Psg16	T	C	7: 16,824,321 (GRCm39)	L35P	probably damaging	Het
Pxn	C	T	5: 115,689,955 (GRCm39)	L160F	probably benign	Het
Rab3a	A	G	8: 71,209,095 (GRCm39)	D77G	probably damaging	Het
Resf1	T	A	6: 149,229,376 (GRCm39)	N807K	probably damaging	Het
Rgma	A	T	7: 73,067,068 (GRCm39)	T108S	probably damaging	Het
Rxrg	A	G	1: 167,441,374 (GRCm39)	S51G	probably benign	Het
S1pr3	A	T	13: 51,573,475 (GRCm39)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,401,109 (GRCm39)		probably null	Het
Sfrp5	G	T	19: 42,190,266 (GRCm39)	T62K	probably benign	Het
Slco1a6	T	A	6: 142,048,826 (GRCm39)	Y318F	probably damaging	Het
Slit1	A	C	19: 41,603,309 (GRCm39)	S931A	possibly damaging	Het
Sorl1	A	T	9: 41,982,497 (GRCm39)	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,575,213 (GRCm39)	S209P	probably benign	Het
Supt6	C	A	11: 78,122,626 (GRCm39)	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,636,347 (GRCm39)	M234R	probably benign	Het
Tmem72	C	G	6: 116,675,310 (GRCm39)	V61L	probably benign	Het
Trpm5	C	A	7: 142,623,055 (GRCm39)		probably benign	Het
Ttn	T	G	2: 76,550,456 (GRCm39)	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm39)		probably benign	Het
Ubr3	A	T	2: 69,786,393 (GRCm39)	R836W	probably benign	Het
Umodl1	A	G	17: 31,205,273 (GRCm39)		probably null	Het
Ythdf1	A	G	2: 180,560,926 (GRCm39)		probably null	Het
Zfp780b	T	C	7: 27,671,066 (GRCm39)	T81A	possibly damaging	Het
Zfp811	T	C	17: 33,016,816 (GRCm39)	E407G	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
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'- TCAAAGAGAAGGTTAGCCCG -3'
(R):5'- TCACTGAAGGTGTTTTCTGAGC -3'

Sequencing Primer
(F):5'- AGAAGGTTAGCCCGGGACTTC -3'
(R):5'- CACTGAAGGTGTTTTCTGAGCTGTAG -3'

Posted On

2018-07-24