Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02626:Nub1'

301095

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nub1

Ensembl Gene

ENSMUSG00000028954

Gene Name

negative regulator of ubiquitin-like proteins 1

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

IGL02626

Quality Score

Status

Chromosome

Chromosomal Location

24890813-24915376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24908462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 404 (H404Y)

Ref Sequence

ENSEMBL: ENSMUSP00000143657 (fasta)

Gene Model

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

AlphaFold

P54729

Predicted Effect

probably benign
Transcript: ENSMUST00000068825
AA Change: H380Y

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070265
Gene: ENSMUSG00000028954
AA Change: H380Y

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: H404Y

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143657
Gene: ENSMUSG00000028954
AA Change: H404Y

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

Coding Region Coverage

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,810 (GRCm39)	K1236E	probably damaging	Het
Actl7a	A	T	4: 56,744,353 (GRCm39)	E293D	possibly damaging	Het
Adamts2	T	C	11: 50,667,082 (GRCm39)	Y460H	probably damaging	Het
Aoc1	G	A	6: 48,883,044 (GRCm39)	V307I	probably benign	Het
Ar	C	T	X: 97,358,492 (GRCm39)	H756Y	probably damaging	Het
Atg3	C	T	16: 45,004,048 (GRCm39)	R224W	probably benign	Het
Atp5po	G	A	16: 91,483,201 (GRCm39)	P47S	probably damaging	Het
Bicd1	A	G	6: 149,311,054 (GRCm39)	E43G	probably damaging	Het
Ccdc88c	A	G	12: 100,934,059 (GRCm39)		probably benign	Het
Cd33	A	G	7: 43,179,736 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,002,126 (GRCm39)	R292*	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh23	T	C	10: 60,227,580 (GRCm39)	D1167G	probably damaging	Het
Cdk5rap1	A	G	2: 154,207,880 (GRCm39)		probably null	Het
Chd6	A	G	2: 160,881,270 (GRCm39)		probably benign	Het
Chd7	A	T	4: 8,826,519 (GRCm39)	Y961F	probably damaging	Het
Cpe	T	C	8: 65,145,829 (GRCm39)	E52G	probably benign	Het
Cpne5	C	T	17: 29,379,311 (GRCm39)	G491S	probably damaging	Het
Csmd3	A	T	15: 47,567,503 (GRCm39)		probably benign	Het
Ctbp2	T	A	7: 132,600,940 (GRCm39)	T608S	probably benign	Het
Cybb	A	G	X: 9,335,439 (GRCm39)		probably null	Het
Daam2	T	C	17: 49,797,282 (GRCm39)	T168A	possibly damaging	Het
Dnah5	G	T	15: 28,307,422 (GRCm39)	V1717F	possibly damaging	Het
Dse	G	A	10: 34,029,158 (GRCm39)	T644I	probably damaging	Het
Dtd2	A	C	12: 52,051,708 (GRCm39)	Y45*	probably null	Het
Fgfr1op2	T	A	6: 146,491,509 (GRCm39)	M124K	probably benign	Het
Flii	T	C	11: 60,610,685 (GRCm39)	D537G	probably benign	Het
Fntb	T	A	12: 76,944,145 (GRCm39)	I217N	probably benign	Het
Foxi1	A	G	11: 34,155,860 (GRCm39)	S257P	probably benign	Het
Fyn	G	A	10: 39,402,798 (GRCm39)	R190H	probably damaging	Het
Gm28557	T	A	13: 67,223,008 (GRCm39)	T8S	probably benign	Het
Gramd1b	T	C	9: 40,209,306 (GRCm39)	K873E	probably damaging	Het
Grb10	T	C	11: 11,895,503 (GRCm39)	T329A	probably benign	Het
Haus5	A	G	7: 30,356,675 (GRCm39)	L477P	probably damaging	Het
Hectd4	A	T	5: 121,491,944 (GRCm39)	E3761V	possibly damaging	Het
Ift172	T	C	5: 31,421,840 (GRCm39)	I930V	probably benign	Het
Itprid1	T	A	6: 55,945,631 (GRCm39)	V784D	probably benign	Het
Izumo2	A	G	7: 44,358,560 (GRCm39)		probably benign	Het
Map4k4	A	G	1: 40,053,257 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,436,123 (GRCm39)	S753G	probably damaging	Het
Mpzl2	C	T	9: 44,955,590 (GRCm39)	T167I	probably damaging	Het
Mta2	T	A	19: 8,926,532 (GRCm39)	I491N	probably damaging	Het
Myo18b	A	T	5: 113,025,951 (GRCm39)	I33N	unknown	Het
Or10ak13	T	C	4: 118,639,531 (GRCm39)	M84V	probably damaging	Het
Or4f58	A	T	2: 111,851,458 (GRCm39)	V247E	probably damaging	Het
Or5d47	T	C	2: 87,804,068 (GRCm39)	N314D	probably benign	Het
Or8d2b	T	C	9: 38,788,784 (GRCm39)	L104S	probably benign	Het
Ralyl	A	T	3: 13,842,094 (GRCm39)	M77L	probably benign	Het
Rap1gap	T	A	4: 137,454,364 (GRCm39)	V649E	probably benign	Het
Rnf40	C	A	7: 127,195,744 (GRCm39)	Q663K	probably damaging	Het
Slc22a18	T	C	7: 143,052,837 (GRCm39)	L354P	probably damaging	Het
Slc9a8	T	C	2: 167,309,597 (GRCm39)		probably benign	Het
Surf4	C	T	2: 26,815,619 (GRCm39)		probably null	Het
T	A	T	17: 8,654,069 (GRCm39)	N85Y	probably damaging	Het
Tanc1	A	G	2: 59,630,216 (GRCm39)	E732G	probably damaging	Het
Tas2r138	A	G	6: 40,589,649 (GRCm39)	V199A	possibly damaging	Het
Trim43b	T	C	9: 88,967,541 (GRCm39)	Y365C	possibly damaging	Het
Ubd	T	C	17: 37,506,573 (GRCm39)	L153P	probably damaging	Het
Xpnpep2	A	C	X: 47,215,786 (GRCm39)	M513L	probably benign	Het
Zar1l	C	T	5: 150,441,210 (GRCm39)	G139R	probably damaging	Het
Zc3hav1	T	G	6: 38,309,926 (GRCm39)	T299P	probably damaging	Het
Zfp236	C	A	18: 82,676,120 (GRCm39)		probably benign	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
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
R5802:Nub1	UTSW	5	24,907,439 (GRCm39)	missense	possibly damaging	0.95
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

Posted On

2015-04-16