Mutagenetix > Incidental Mutation

Incidental Mutation 'R8258:Nynrin'

640091

Institutional Source

Beutler Lab

Gene Symbol

Nynrin

Ensembl Gene

ENSMUSG00000075592

Gene Name

NYN domain and retroviral integrase containing

Synonyms

MMRRC Submission

067684-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8258 (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 56100815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 202 (I202V)

Ref Sequence

ENSEMBL: ENSMUSP00000098098 (fasta)

Gene Model

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

AlphaFold

Q5DTZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100529
AA Change: I202V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: I202V

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: I202V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: I202V

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: 99.2%

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
Abcg5	T	G	17: 84,983,523 (GRCm39)	T144P	possibly damaging	Het
Adhfe1	A	G	1: 9,628,417 (GRCm39)	N263S	probably null	Het
Aebp2	A	T	6: 140,583,453 (GRCm39)	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,047,054 (GRCm39)	Y281H	probably damaging	Het
Atg2a	G	A	19: 6,299,859 (GRCm39)	A588T	probably damaging	Het
Calcoco1	T	C	15: 102,624,228 (GRCm39)	D236G	probably damaging	Het
Camsap2	A	T	1: 136,208,077 (GRCm39)	D470E	probably benign	Het
Capn8	G	T	1: 182,392,698 (GRCm39)	V25L	probably benign	Het
Card10	A	G	15: 78,660,884 (GRCm39)	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,764,119 (GRCm39)	H137L	probably damaging	Het
Cdh23	A	T	10: 60,151,435 (GRCm39)	D2483E	probably damaging	Het
Chd2	G	T	7: 73,085,532 (GRCm39)	Q1701K	probably benign	Het
Cimap2	C	T	4: 106,448,859 (GRCm39)	G400S	probably damaging	Het
Ckmt2	T	A	13: 92,007,335 (GRCm39)	R286S	probably damaging	Het
Cyp27a1	A	T	1: 74,771,214 (GRCm39)	D133V	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eml1	A	T	12: 108,476,458 (GRCm39)	I283F	probably damaging	Het
Fat3	A	G	9: 15,901,887 (GRCm39)	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,063,763 (GRCm39)	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,795,702 (GRCm39)	S76P	possibly damaging	Het
Fgg	C	T	3: 82,917,477 (GRCm39)	Q169*	probably null	Het
Ggt5	G	A	10: 75,450,666 (GRCm39)	V558I	probably benign	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Incenp	A	G	19: 9,870,993 (GRCm39)	L212P	unknown	Het
Incenp	G	C	19: 9,871,005 (GRCm39)	T208R	unknown	Het
Mctp1	T	A	13: 76,949,666 (GRCm39)		probably null	Het
Megf8	T	C	7: 25,057,848 (GRCm39)	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,941,391 (GRCm39)	V308I	probably benign	Het
Muc1	T	A	3: 89,139,341 (GRCm39)	H580Q	probably damaging	Het
Naip6	A	T	13: 100,452,920 (GRCm39)	M47K	probably benign	Het
Nrxn1	C	A	17: 90,471,249 (GRCm39)	R1260L	probably damaging	Het
Or14j7	T	C	17: 38,234,847 (GRCm39)	L130P	probably damaging	Het
Or5ac17	T	C	16: 59,036,458 (GRCm39)	I173V	probably benign	Het
Or5b98	T	C	19: 12,931,727 (GRCm39)	M258T	possibly damaging	Het
Pard3	G	A	8: 128,098,021 (GRCm39)	W354*	probably null	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Prune2	A	G	19: 17,189,672 (GRCm39)	R3052G	unknown	Het
Prx	T	C	7: 27,218,808 (GRCm39)	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,707,633 (GRCm39)	I183T	probably benign	Het
Ranbp2	A	G	10: 58,291,755 (GRCm39)	E254G	probably benign	Het
Rhot2	C	A	17: 26,058,864 (GRCm39)	R512L	probably benign	Het
Rpa1	T	C	11: 75,193,550 (GRCm39)	N594D	probably benign	Het
Rxfp2	T	A	5: 149,983,365 (GRCm39)	I300K	probably damaging	Het
Scarf1	T	A	11: 75,414,689 (GRCm39)	S486T	probably damaging	Het
Slc24a4	T	C	12: 102,220,928 (GRCm39)	V455A	probably damaging	Het
Slitrk1	A	G	14: 109,148,653 (GRCm39)	V686A	probably benign	Het
Spata31e2	T	C	1: 26,721,562 (GRCm39)	E1206G	probably benign	Het
Syne2	C	A	12: 75,996,143 (GRCm39)	Q2228K	possibly damaging	Het
Tenm4	G	A	7: 96,517,198 (GRCm39)	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,511,492 (GRCm39)	A253S	probably benign	Het
Trpm1	G	A	7: 63,918,777 (GRCm39)	A1590T	probably benign	Het
Vmn1r184	T	A	7: 25,966,686 (GRCm39)	M144K	probably benign	Het
Wee2	A	G	6: 40,421,114 (GRCm39)	D68G	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
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
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
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'- ACCGAGTCTTTTACCATGACAC -3'
(R):5'- TCTTTGAATTTTCTGAAGCCCG -3'

Sequencing Primer
(F):5'- GTCTTTTACCATGACACAGAACTGGC -3'
(R):5'- TTCTGAAGCCCGATTCAAGG -3'

Posted On

2020-07-28