Mutagenetix > Incidental Mutation

Incidental Mutation 'R9760:Nub1'

732938

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R9760 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24890813-24915376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24897965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 117 (L117P)

Ref Sequence

ENSEMBL: ENSMUSP00000143657 (fasta)

Gene Model

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

AlphaFold

P54729

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068825
AA Change: L93P

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070265
Gene: ENSMUSG00000028954
AA Change: L93P

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

possibly damaging
Transcript: ENSMUST00000197407
AA Change: L117P

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143657
Gene: ENSMUSG00000028954
AA Change: L117P

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.7%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	C	16: 8,399,794 (GRCm39)		probably null	Het
Adamts4	G	A	1: 171,086,334 (GRCm39)	D709N	probably benign	Het
Arhgef12	G	T	9: 42,903,318 (GRCm39)	D745E	probably damaging	Het
Cep250	A	G	2: 155,818,473 (GRCm39)	K883E	probably benign	Het
Cfdp1	T	C	8: 112,495,415 (GRCm39)	I268V	probably benign	Het
Cgnl1	G	T	9: 71,552,853 (GRCm39)	S1037*	probably null	Het
Clca3b	T	C	3: 144,552,610 (GRCm39)	N142S	probably benign	Het
Col6a6	A	T	9: 105,659,253 (GRCm39)	I564N	probably damaging	Het
Coq4	G	T	2: 29,678,482 (GRCm39)	R36L	probably benign	Het
Dact3	G	A	7: 16,620,131 (GRCm39)	S542N	unknown	Het
Dcaf1	A	G	9: 106,751,466 (GRCm39)	D1480G	unknown	Het
Dcdc2a	C	T	13: 25,389,443 (GRCm39)	T457I	probably damaging	Het
Ddi2	A	G	4: 141,411,196 (GRCm39)	V572A	probably damaging	Het
Ddx54	C	T	5: 120,761,672 (GRCm39)	R483C	probably benign	Het
Dennd5b	G	A	6: 148,969,997 (GRCm39)	S152F	probably benign	Het
Efcab14	C	T	4: 115,616,072 (GRCm39)	H252Y	probably benign	Het
Efhb	A	T	17: 53,770,298 (GRCm39)	F4I	probably damaging	Het
Esrrg	A	G	1: 187,775,569 (GRCm39)	D32G	probably benign	Het
Far2	C	A	6: 148,060,448 (GRCm39)	A267E	probably damaging	Het
Fhip2b	A	C	14: 70,827,621 (GRCm39)	V158G	possibly damaging	Het
Flnb	T	C	14: 7,929,846 (GRCm38)	I1992T	probably damaging	Het
Fmnl2	A	G	2: 52,944,527 (GRCm39)	S169G		Het
Galnt10	G	A	11: 57,656,514 (GRCm39)	V233I	probably benign	Het
Gbf1	C	A	19: 46,244,137 (GRCm39)	N210K	probably benign	Het
Gbp3	T	G	3: 142,276,283 (GRCm39)	S460A	probably benign	Het
Gm12185	T	A	11: 48,806,168 (GRCm39)	H341L	probably benign	Het
Gm5592	A	T	7: 40,939,234 (GRCm39)	I839F	possibly damaging	Het
Gnptab	A	G	10: 88,267,310 (GRCm39)	D467G	probably damaging	Het
Grin3a	A	T	4: 49,714,213 (GRCm39)	M844K	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,020 (GRCm39)	D368G	probably benign	Het
Herc2	G	C	7: 55,813,659 (GRCm39)		probably null	Het
Hycc1	T	C	5: 24,184,572 (GRCm39)	Q302R	possibly damaging	Het
Ins2	T	A	7: 142,233,185 (GRCm39)	H29L	probably damaging	Het
Ipo13	T	A	4: 117,762,778 (GRCm39)	Y275F	probably benign	Het
Kcnj15	T	A	16: 95,096,483 (GRCm39)	M35K	probably benign	Het
Kif21b	G	A	1: 136,076,421 (GRCm39)	V321M	probably damaging	Het
Lcmt1	T	A	7: 123,029,375 (GRCm39)	Y332*	probably null	Het
Malt1	A	G	18: 65,581,283 (GRCm39)	Q237R	probably benign	Het
Micall1	G	A	15: 79,005,032 (GRCm39)	C168Y	unknown	Het
Muc5ac	A	G	7: 141,360,985 (GRCm39)	K1432R	probably benign	Het
Nacad	A	G	11: 6,551,662 (GRCm39)	S510P	probably benign	Het
Or10al3	T	C	17: 38,012,434 (GRCm39)	L291P	probably damaging	Het
Or5af1	A	G	11: 58,722,852 (GRCm39)	R291G	probably damaging	Het
Or8g24	A	T	9: 38,989,271 (GRCm39)	F257I	possibly damaging	Het
Pkdrej	T	C	15: 85,705,268 (GRCm39)	K223E	probably benign	Het
Prkdc	T	A	16: 15,657,044 (GRCm39)	Y4046*	probably null	Het
Prpf8	A	G	11: 75,394,257 (GRCm39)	N1767D	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
R3hdm2	G	T	10: 127,280,182 (GRCm39)	M18I	unknown	Het
Rab35	C	A	5: 115,778,224 (GRCm39)	D63E	probably damaging	Het
Ribc2	T	A	15: 85,027,568 (GRCm39)	Y350N	probably benign	Het
Sec63	A	G	10: 42,704,944 (GRCm39)	I733V	probably benign	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Slc38a4	T	C	15: 96,896,332 (GRCm39)	K512E	probably damaging	Het
Stk35	G	A	2: 129,642,605 (GRCm39)	V49I	probably benign	Het
Tango6	A	G	8: 107,576,911 (GRCm39)	E1055G	probably damaging	Het
Tas2r140	A	G	6: 40,469,036 (GRCm39)	I289V	probably benign	Het
Thoc2l	T	C	5: 104,667,101 (GRCm39)	V541A	probably benign	Het
Tll2	C	T	19: 41,119,084 (GRCm39)	V215M	probably damaging	Het
Tmem30a	A	T	9: 79,687,874 (GRCm39)	N98K	probably benign	Het
Trav9n-4	C	A	14: 53,532,290 (GRCm39)	A48E	probably benign	Het
Vinac1	A	T	2: 128,880,499 (GRCm39)	S476T		Het
Vmn1r192	A	G	13: 22,372,010 (GRCm39)	F70S	probably damaging	Het
Wdr89	A	G	12: 75,680,026 (GRCm39)	V76A	probably damaging	Het
Zfp229	A	T	17: 21,965,275 (GRCm39)	T502S	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
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
Z1177:Nub1	UTSW	5	24,907,456 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCCTCATAGGACCTTGCTAAG -3'
(R):5'- AAAACAGTTTGCTGAGCATGTG -3'

Sequencing Primer
(F):5'- GGACCTTGCTAAGAAGTACTCTG -3'
(R):5'- AAGTACACTGTAGCTGTCGTCAG -3'

Posted On

2022-11-14