Mutagenetix > Incidental Mutation

Incidental Mutation 'R6935:Nynrin'

540269

Institutional Source

Beutler Lab

Gene Symbol

Nynrin

Ensembl Gene

ENSMUSG00000075592

Gene Name

NYN domain and retroviral integrase containing

Synonyms

MMRRC Submission

045008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6935 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56091572-56112193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 56101335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 335 (S335A)

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: S335A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: S335A

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: S335A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: S335A

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

probably benign
Transcript: ENSMUST00000227465

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	A	14: 35,533,864 (GRCm39)	H14L	probably benign	Het
Adar	A	G	3: 89,654,525 (GRCm39)	N368D	probably benign	Het
Adcy10	T	C	1: 165,334,204 (GRCm39)	V71A	probably benign	Het
Ank1	C	T	8: 23,598,247 (GRCm39)	T755I	probably damaging	Het
Aoc1	A	T	6: 48,885,161 (GRCm39)	Y632F	probably damaging	Het
Bbc3	A	G	7: 16,046,124 (GRCm39)	D20G	possibly damaging	Het
Bche	T	G	3: 73,609,133 (GRCm39)	I98L	probably benign	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Col12a1	A	G	9: 79,607,782 (GRCm39)	Y349H	possibly damaging	Het
Crip2	T	C	12: 113,104,213 (GRCm39)	C8R	probably damaging	Het
Dhx58	T	A	11: 100,589,232 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,312,567 (GRCm39)	R4333C	probably damaging	Het
Dnajb12	T	C	10: 59,732,325 (GRCm39)		probably null	Het
Dzank1	T	C	2: 144,318,014 (GRCm39)	E718G	possibly damaging	Het
Erfl	C	A	7: 24,627,986 (GRCm39)	G181V	possibly damaging	Het
Fbxo28	C	T	1: 182,169,025 (GRCm39)	G38R	unknown	Het
Foxb2	A	G	19: 16,849,983 (GRCm39)	F341S	probably benign	Het
Gabrb3	T	A	7: 57,241,561 (GRCm39)	I29N	probably damaging	Het
Gm7298	G	A	6: 121,744,653 (GRCm39)	R557H	probably benign	Het
Itih3	T	A	14: 30,634,659 (GRCm39)	Q116L	possibly damaging	Het
Lingo1	T	C	9: 56,527,149 (GRCm39)	Y480C	probably damaging	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Mbd5	A	G	2: 49,169,824 (GRCm39)	Y113C	probably damaging	Het
Mcm3ap	C	T	10: 76,340,087 (GRCm39)	P1453S	possibly damaging	Het
Mdn1	T	G	4: 32,774,041 (GRCm39)	F5551V	possibly damaging	Het
Myo16	T	A	8: 10,619,820 (GRCm39)	M1457K	probably benign	Het
Nbeal2	T	A	9: 110,468,459 (GRCm39)	E372V	probably damaging	Het
Ncam2	T	A	16: 81,323,879 (GRCm39)	S508T	probably benign	Het
Nebl	A	T	2: 17,353,637 (GRCm39)	D971E	probably damaging	Het
Nlrp10	A	T	7: 108,526,107 (GRCm39)	M77K	probably damaging	Het
Or2y1d	A	G	11: 49,321,825 (GRCm39)	N174S	probably damaging	Het
Or52ad1	A	T	7: 102,996,002 (GRCm39)	N44K	probably damaging	Het
Or8c18	G	T	9: 38,203,413 (GRCm39)	M57I	probably benign	Het
Pidd1	A	T	7: 141,020,215 (GRCm39)	D570E	probably damaging	Het
Ppfia3	T	C	7: 45,001,631 (GRCm39)	D427G	possibly damaging	Het
Prex1	T	C	2: 166,441,575 (GRCm39)	Y364C	probably damaging	Het
Prlr	A	G	15: 10,319,388 (GRCm39)	S142G	probably damaging	Het
Rack1	T	C	11: 48,694,322 (GRCm39)	V174A	probably damaging	Het
Rhbdl3	C	T	11: 80,228,322 (GRCm39)	A264V	probably damaging	Het
Sh3bp5	T	A	14: 31,101,473 (GRCm39)	M170L	probably damaging	Het
Skint5	A	T	4: 113,799,793 (GRCm39)	F125L	possibly damaging	Het
Slc6a4	T	C	11: 76,917,994 (GRCm39)	Y579H	probably benign	Het
Tmem106b	A	T	6: 13,081,554 (GRCm39)	T154S	possibly damaging	Het
Xrcc5	A	G	1: 72,382,189 (GRCm39)	D455G	possibly 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
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'- GCCACGAACTTGGACTTTCTC -3'
(R):5'- CAGCTTTAAGGGCAAAGGATTCC -3'

Sequencing Primer
(F):5'- AACTTGGACTTTCTCTAGGGACCAG -3'
(R):5'- CTCTGCCAGAAGGGGAAATTTAAGC -3'

Posted On

2018-11-06