Mutagenetix > Incidental Mutation

Incidental Mutation 'R5802:Nub1'

448777

Institutional Source

Beutler Lab

Gene Symbol

Nub1

Ensembl Gene

ENSMUSG00000028954

Gene Name

negative regulator of ubiquitin-like proteins 1

Synonyms

NY-REN-18, 6330412F12Rik, BS4, 4931404D21Rik

MMRRC Submission

043391-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R5802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24890813-24915376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24907439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 350 (Y350S)

Ref Sequence

ENSEMBL: ENSMUSP00000070265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068825] [ENSMUST00000197407]

AlphaFold

P54729

PDB Structure

Solution Structure of RSGI RUH-012, a UBA Domain from Mouse cDNA [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068825
AA Change: Y350S

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

SMART Domains

Protein: ENSMUSP00000070265
Gene: ENSMUSG00000028954
AA Change: Y350S

Domain	Start	End	E-Value	Type
coiled coil region	37	70	N/A	INTRINSIC
PDB:1WJU\|A	71	162	2e-45	PDB
low complexity region	167	186	N/A	INTRINSIC
UBA	375	412	7.29e-8	SMART
UBA	431	468	1.61e-9	SMART
UBA	490	527	1.95e-8	SMART
low complexity region	539	565	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181925

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197407
AA Change: Y374S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143657
Gene: ENSMUSG00000028954
AA Change: Y374S

Domain	Start	End	E-Value	Type
coiled coil region	61	94	N/A	INTRINSIC
PDB:1WJU\|A	95	186	2e-45	PDB
low complexity region	191	210	N/A	INTRINSIC
UBA	399	436	3.5e-10	SMART
UBA	455	492	8.1e-12	SMART
UBA	514	551	9.5e-11	SMART
low complexity region	563	589	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200337

Meta Mutation Damage Score

0.8397

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 12,021,188 (GRCm39)	D383V	probably damaging	Het
AAdacl4fm3	T	A	4: 144,430,206 (GRCm39)	D261V	probably damaging	Het
Abca4	A	T	3: 121,847,881 (GRCm39)	L67F	probably damaging	Het
Abcc9	C	A	6: 142,602,402 (GRCm39)		probably null	Het
Atp2a3	T	C	11: 72,863,708 (GRCm39)	V175A	probably damaging	Het
B3galt4	T	A	17: 34,169,731 (GRCm39)	D169V	probably damaging	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Camkk2	T	C	5: 122,872,307 (GRCm39)	E90G	probably damaging	Het
Cdon	T	A	9: 35,365,716 (GRCm39)	I155N	probably damaging	Het
Cep70	A	G	9: 99,178,458 (GRCm39)	N519D	probably damaging	Het
Clgn	T	C	8: 84,152,243 (GRCm39)	S582P	probably damaging	Het
Cnga3	T	C	1: 37,300,006 (GRCm39)	F280S	probably damaging	Het
Dennd4c	C	T	4: 86,729,690 (GRCm39)	T764M	probably benign	Het
Dis3	A	T	14: 99,337,100 (GRCm39)	S4T	probably damaging	Het
Dlgap1	T	C	17: 71,073,086 (GRCm39)		probably null	Het
Dnah17	C	T	11: 117,927,272 (GRCm39)	V3839I	possibly damaging	Het
Dnajc1	A	G	2: 18,289,550 (GRCm39)	Y286H	probably benign	Het
Dynap	T	A	18: 70,374,073 (GRCm39)	D151V	unknown	Het
Ednrb	A	G	14: 104,059,150 (GRCm39)	F292S	probably damaging	Het
Eef1a1	A	G	9: 78,386,318 (GRCm39)	S396P	probably damaging	Het
Fancg	A	G	4: 43,006,582 (GRCm39)	F324S	probably benign	Het
Fbxw11	T	A	11: 32,661,790 (GRCm39)	S56T	probably benign	Het
Gm17535	G	C	9: 3,035,758 (GRCm39)	V209L	probably benign	Homo
Gm5592	C	T	7: 40,868,529 (GRCm39)		probably benign	Het
Gpr137	C	T	19: 6,919,373 (GRCm39)	W51*	probably null	Het
H2-T9	A	G	17: 36,422,179 (GRCm39)		probably benign	Het
Hbb-bs	T	C	7: 103,475,879 (GRCm39)	Y146C	probably damaging	Het
Herc1	G	T	9: 66,370,160 (GRCm39)	C2982F	probably damaging	Het
Hnrnpa3	T	A	2: 75,495,400 (GRCm39)	N309K	unknown	Het
Hydin	A	T	8: 111,178,692 (GRCm39)	I1096F	possibly damaging	Het
Klf12	A	G	14: 100,260,330 (GRCm39)	V133A	probably benign	Het
Lats2	A	T	14: 57,931,875 (GRCm39)	Y848N	probably damaging	Het
Loxl3	A	G	6: 83,026,270 (GRCm39)	T453A	possibly damaging	Het
Ltn1	T	G	16: 87,212,569 (GRCm39)	H664P	probably benign	Het
Lypd6	C	T	2: 50,063,613 (GRCm39)	T40I	probably benign	Het
Nbeal1	A	T	1: 60,311,380 (GRCm39)	T1817S	probably benign	Het
Pbp2	A	G	6: 135,286,874 (GRCm39)	Y158H	possibly damaging	Het
Ptpru	C	T	4: 131,515,688 (GRCm39)	E827K	possibly damaging	Het
Rap1a	A	G	3: 105,653,252 (GRCm39)	Y32H	probably damaging	Het
Raph1	T	C	1: 60,527,832 (GRCm39)	N1143S	possibly damaging	Het
Rbl1	T	C	2: 157,003,353 (GRCm39)	T859A	probably benign	Het
Rom1	A	G	19: 8,906,188 (GRCm39)	L117P	probably damaging	Het
Senp6	T	C	9: 80,025,926 (GRCm39)		probably benign	Het
Sirpb1c	T	C	3: 15,886,240 (GRCm39)	M379V	probably benign	Het
Slc6a4	C	T	11: 76,910,062 (GRCm39)	T439M	probably damaging	Het
Srsf12	G	T	4: 33,230,929 (GRCm39)	R141L	probably damaging	Het
Stk10	C	T	11: 32,546,748 (GRCm39)	P335L	probably benign	Het
Tcstv2c	G	A	13: 120,616,449 (GRCm39)	S96N	possibly damaging	Het
Tecpr1	A	T	5: 144,143,364 (GRCm39)	N670K	probably benign	Het
Tgds	T	C	14: 118,370,119 (GRCm39)	E8G	probably benign	Het
Tmem129	A	G	5: 33,815,060 (GRCm39)	S38P	probably damaging	Het
Trappc9	T	C	15: 72,557,188 (GRCm39)	E812G	probably damaging	Het
Trmt10b	T	A	4: 45,314,236 (GRCm39)		probably benign	Het
Wapl	A	G	14: 34,414,277 (GRCm39)	T380A	probably damaging	Het
Xylt1	A	T	7: 117,255,914 (GRCm39)	T829S	probably benign	Het
Zc3h6	C	T	2: 128,857,479 (GRCm39)	P666L	possibly damaging	Het
Zfp1010	T	C	2: 176,957,049 (GRCm39)	T150A	possibly damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in Nub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02367:Nub1	APN	5	24,894,392 (GRCm39)	start codon destroyed	probably null	0.99
IGL02626:Nub1	APN	5	24,908,462 (GRCm39)	missense	possibly damaging	0.65
IGL02629:Nub1	APN	5	24,908,462 (GRCm39)	missense	possibly damaging	0.65
IGL02633:Nub1	APN	5	24,897,931 (GRCm39)	missense	probably benign	0.00
IGL02798:Nub1	APN	5	24,897,812 (GRCm39)	missense	probably damaging	1.00
IGL03384:Nub1	APN	5	24,902,424 (GRCm39)	splice site	probably null
IGL03384:Nub1	APN	5	24,902,425 (GRCm39)	splice site	probably benign
R2484:Nub1	UTSW	5	24,913,700 (GRCm39)	missense	possibly damaging	0.91
R2679:Nub1	UTSW	5	24,897,923 (GRCm39)	missense	possibly damaging	0.93
R3825:Nub1	UTSW	5	24,912,851 (GRCm39)	missense	probably benign	0.21
R4180:Nub1	UTSW	5	24,897,875 (GRCm39)	missense	probably damaging	0.99
R4593:Nub1	UTSW	5	24,914,119 (GRCm39)	missense	probably damaging	1.00
R4921:Nub1	UTSW	5	24,906,467 (GRCm39)	missense	probably benign	0.38
R5175:Nub1	UTSW	5	24,907,446 (GRCm39)	missense	probably benign	0.28
R5282:Nub1	UTSW	5	24,900,533 (GRCm39)	missense	probably benign	0.04
R5346:Nub1	UTSW	5	24,902,414 (GRCm39)	missense	probably damaging	0.96
R5533:Nub1	UTSW	5	24,907,379 (GRCm39)	missense	possibly damaging	0.93
R5567:Nub1	UTSW	5	24,913,814 (GRCm39)	missense	possibly damaging	0.54
R6966:Nub1	UTSW	5	24,894,470 (GRCm39)	missense	probably damaging	1.00
R6967:Nub1	UTSW	5	24,913,709 (GRCm39)	missense	probably benign
R7540:Nub1	UTSW	5	24,906,527 (GRCm39)	missense	probably damaging	1.00
R7787:Nub1	UTSW	5	24,913,801 (GRCm39)	missense	probably benign	0.03
R8478:Nub1	UTSW	5	24,906,422 (GRCm39)	missense	probably benign	0.01
R9746:Nub1	UTSW	5	24,908,483 (GRCm39)	missense	probably damaging	1.00
R9760:Nub1	UTSW	5	24,897,965 (GRCm39)	missense	possibly damaging	0.76
Z1177:Nub1	UTSW	5	24,907,456 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGCTTAGAAGTTGTCCCAGTG -3'
(R):5'- ACAGACACAAGTGTTCATGCTG -3'

Sequencing Primer
(F):5'- TCCCAGTGACAGCTGTGGTG -3'
(R):5'- ACACAAGTGTTCATGCTGCATGTG -3'

Posted On

2016-12-15