Mutagenetix > Incidental Mutation

Incidental Mutation 'R5175:Nub1'

399130

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

042755-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R5175 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24890813-24915376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24907446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 376 (S376R)

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: S352R

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070265
Gene: ENSMUSG00000028954
AA Change: S352R

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

probably benign
Transcript: ENSMUST00000197407
AA Change: S376R

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143657
Gene: ENSMUSG00000028954
AA Change: S376R

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

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr2	A	C	11: 20,030,114 (GRCm39)	M215R	probably benign	Het
Ago2	A	T	15: 72,996,067 (GRCm39)	I354K	possibly damaging	Het
Angel2	T	A	1: 190,673,081 (GRCm39)	C72*	probably null	Het
Ank2	T	A	3: 126,797,673 (GRCm39)	H679L	probably damaging	Het
Anks1	A	T	17: 28,261,562 (GRCm39)	Q694L	probably damaging	Het
Aox3	C	T	1: 58,211,487 (GRCm39)	P1015S	probably benign	Het
Arhgap35	C	A	7: 16,296,524 (GRCm39)	R847L	probably damaging	Het
Bag4	C	A	8: 26,258,379 (GRCm39)	C316F	probably damaging	Het
Camkv	T	A	9: 107,824,581 (GRCm39)	I258N	probably damaging	Het
Cpt1c	G	A	7: 44,620,781 (GRCm39)	A28V	probably damaging	Het
Cyp2j13	A	T	4: 95,956,452 (GRCm39)	M219K	possibly damaging	Het
Dclk1	G	T	3: 55,154,648 (GRCm39)	R26L	possibly damaging	Het
Diras2	A	T	13: 52,662,007 (GRCm39)	I100N	probably damaging	Het
Dnah5	T	A	15: 28,448,550 (GRCm39)	N4204K	probably damaging	Het
Dnase1l3	T	A	14: 7,987,386 (GRCm38)	K55*	probably null	Het
Dusp6	A	G	10: 99,099,864 (GRCm39)	D104G	possibly damaging	Het
Eif5b	A	G	1: 38,084,468 (GRCm39)	T819A	probably damaging	Het
Elfn2	A	T	15: 78,558,073 (GRCm39)	L158H	probably damaging	Het
Erp44	T	C	4: 48,196,823 (GRCm39)	T367A	probably benign	Het
Fasn	A	T	11: 120,707,195 (GRCm39)	D843E	probably benign	Het
Fbxw25	T	C	9: 109,493,631 (GRCm39)	Y20C	probably damaging	Het
Fer1l6	G	A	15: 58,422,126 (GRCm39)	G108E	probably damaging	Het
Fndc7	C	T	3: 108,776,482 (GRCm39)	V520I	probably benign	Het
Gm17019	A	G	5: 15,082,817 (GRCm39)	W46R	possibly damaging	Het
Gorab	G	T	1: 163,214,214 (GRCm39)	Q239K	probably damaging	Het
Gsdma2	A	G	11: 98,543,438 (GRCm39)	T76A	probably benign	Het
Hnrnpll	A	C	17: 80,341,499 (GRCm39)	C513W	possibly damaging	Het
Ifrd2	T	C	9: 107,467,824 (GRCm39)	L170P	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnma1	A	G	14: 23,386,106 (GRCm39)		probably null	Het
Kcnn3	T	C	3: 89,516,746 (GRCm39)	F385S	probably damaging	Het
Kif18a	T	G	2: 109,133,323 (GRCm39)		probably null	Het
Llgl2	A	G	11: 115,741,547 (GRCm39)	K559R	probably damaging	Het
Lrrc8a	T	C	2: 30,145,524 (GRCm39)	C113R	probably damaging	Het
Mgat5	A	G	1: 127,387,649 (GRCm39)	N535S	probably damaging	Het
Myh15	T	G	16: 48,889,789 (GRCm39)	W127G	possibly damaging	Het
Npsr1	A	G	9: 24,046,111 (GRCm39)	R77G	probably benign	Het
Or14c44	T	C	7: 86,062,254 (GRCm39)	V228A	probably benign	Het
Or4d10c	G	A	19: 12,065,926 (GRCm39)	P77S	probably damaging	Het
Or4k47	A	T	2: 111,451,771 (GRCm39)	I216N	possibly damaging	Het
Or5al6	T	C	2: 85,976,301 (GRCm39)	Y259C	probably damaging	Het
Or9i2	G	A	19: 13,815,680 (GRCm39)	P286S	probably damaging	Het
Pcdh9	A	G	14: 94,125,879 (GRCm39)	L97P	probably damaging	Het
Pkn2	A	G	3: 142,504,684 (GRCm39)	Y831H	probably damaging	Het
Plcz1	T	G	6: 139,985,389 (GRCm39)	I51L	possibly damaging	Het
Plekhg1	T	C	10: 3,915,516 (GRCm39)		probably benign	Het
Prdm9	A	T	17: 15,777,713 (GRCm39)	S124T	probably benign	Het
Prkag1	A	C	15: 98,713,596 (GRCm39)	V33G	possibly damaging	Het
Rab25	T	A	3: 88,450,728 (GRCm39)	Y57F	possibly damaging	Het
Rb1cc1	A	G	1: 6,318,545 (GRCm39)	I638V	probably benign	Het
Rest	C	A	5: 77,416,219 (GRCm39)	D144E	probably damaging	Het
Rpa2	A	G	4: 132,505,151 (GRCm39)	D260G	probably damaging	Het
Sf3b3	A	G	8: 111,560,467 (GRCm39)	V425A	probably benign	Het
Sidt2	A	T	9: 45,863,086 (GRCm39)	M15K	probably damaging	Het
Slc22a17	A	G	14: 55,144,748 (GRCm39)	L555P	probably damaging	Het
Smoc2	A	G	17: 14,595,719 (GRCm39)	D282G	possibly damaging	Het
Sorcs3	G	A	19: 48,748,284 (GRCm39)		probably null	Het
Spmap2l	C	T	5: 77,164,317 (GRCm39)	P107S	probably benign	Het
Srcin1	A	G	11: 97,464,703 (GRCm39)	W15R	probably damaging	Het
Stra6l	A	G	4: 45,870,860 (GRCm39)	T259A	probably benign	Het
Ube3a	T	C	7: 58,938,465 (GRCm39)	F741S	probably damaging	Het
Vasp	C	A	7: 18,998,594 (GRCm39)	M54I	probably benign	Het
Vmn1r174	A	T	7: 23,454,153 (GRCm39)	H273L	probably benign	Het
Vmn2r50	T	A	7: 9,771,644 (GRCm39)	I686F	probably damaging	Het
Vmn2r76	T	C	7: 85,877,915 (GRCm39)	E494G	probably benign	Het
Zfp788	A	G	7: 41,298,753 (GRCm39)	E443G	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
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

Predicted Primers

PCR Primer
(F):5'- ACTGCTTAGAAGTTGTCCCAGTG -3'
(R):5'- AGACACAAGTGTTCATGCTGC -3'

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

Posted On

2016-07-06