Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Ubb'

690243

Institutional Source

Beutler Lab

Gene Symbol

Ubb

Ensembl Gene

ENSMUSG00000019505

Gene Name

ubiquitin B

Synonyms

Ubb2

MMRRC Submission

068776-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.351) question?

Stock #

R8932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62551171-62553213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62552153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 3 (I3N)

Ref Sequence

ENSEMBL: ENSMUSP00000019649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019649] [ENSMUST00000136938]

AlphaFold

P0CG49

Predicted Effect

probably damaging
Transcript: ENSMUST00000019649
AA Change: I3N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019649
Gene: ENSMUSG00000019505
AA Change: I3N

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
UBQ	77	148	2.14e-36	SMART
UBQ	153	224	2.14e-36	SMART
UBQ	229	300	2.14e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000136938
AA Change: I3N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117361
Gene: ENSMUSG00000019505
AA Change: I3N

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
UBQ	77	148	2.14e-36	SMART
UBQ	153	224	2.14e-36	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of four direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. Pseudogenes of this gene are located on chromosomes 3 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Targeted disruption of this gene results in progressive degeneration of hypothalamic neurons accompanied by impaired hypothalamic control of energy balance and adult-onset obesity. Both genders are infertile due to a failure of germ cells to progress through meiosis I and hypogonadism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,194,375	Y874C	probably damaging	Het
Adam34	G	T	8: 43,652,155	T151K	probably benign	Het
Adnp2	C	T	18: 80,142,678	G27S	probably damaging	Het
Ank3	A	G	10: 69,824,462	M265V	probably benign	Het
Apoe	T	C	7: 19,696,672	D215G	possibly damaging	Het
Atp5b	A	G	10: 128,088,981	I438V	probably benign	Het
Bckdha	A	G	7: 25,631,011	S387P	probably damaging	Het
Camkk1	T	C	11: 73,033,908	F316L	probably damaging	Het
Carmil1	A	G	13: 24,013,196	Y158H		Het
Ccdc148	T	C	2: 59,004,042	R29G	probably benign	Het
Ccdc39	A	G	3: 33,830,125	V356A	probably benign	Het
Cdan1	G	A	2: 120,731,087	Q66*	probably null	Het
Ckap4	A	T	10: 84,528,426	S258T	probably benign	Het
Col5a2	T	C	1: 45,380,146	D1258G	probably benign	Het
Col6a1	G	A	10: 76,716,759	P431L	unknown	Het
Csn1s2a	A	G	5: 87,785,305	I138V	probably benign	Het
Cyp19a1	C	T	9: 54,176,577	G176D	probably benign	Het
Dnah10	A	G	5: 124,800,951	E2700G	possibly damaging	Het
Doxl2	G	A	6: 48,975,494	E118K	probably damaging	Het
Eif3l	T	A	15: 79,075,806	Y23*	probably null	Het
Fam72a	A	G	1: 131,528,764	K22E	probably benign	Het
Golim4	A	G	3: 75,898,044	V258A	probably benign	Het
Gtf2ird2	C	T	5: 134,208,898	A272V	probably benign	Het
Hpse	T	C	5: 100,699,006	T186A	possibly damaging	Het
Ift140	A	T	17: 25,086,888	Q816H	probably benign	Het
Iqca	A	T	1: 90,140,028	I167N	probably damaging	Het
Iqgap1	A	T	7: 80,751,393	F515L	probably benign	Het
Itgb4	G	A	11: 115,988,469	R558H	probably benign	Het
Kcna10	G	A	3: 107,194,103	D17N	probably damaging	Het
Kcnj16	A	G	11: 111,025,003	I164V	probably damaging	Het
Lrrc55	G	T	2: 85,196,271	N136K	probably damaging	Het
Mdm4	A	T	1: 133,012,644	M50K	probably benign	Het
Mfge8	A	G	7: 79,136,782	S290P	probably damaging	Het
Mindy4	G	A	6: 55,224,130	D267N	probably benign	Het
Mllt10	T	A	2: 18,123,806	S199R	probably benign	Het
Mms22l	T	C	4: 24,533,029	S436P	probably damaging	Het
Mpped2	A	G	2: 106,867,050	N290S	possibly damaging	Het
Mrgpra2a	A	G	7: 47,426,697	L271P	probably benign	Het
Myrf	T	A	19: 10,223,567	E247D	probably benign	Het
Ndrg3	A	G	2: 156,940,379	I189T	possibly damaging	Het
Nenf	C	T	1: 191,317,951	E48K	probably benign	Het
Nlgn2	T	A	11: 69,828,168	N232Y	probably damaging	Het
Olfr824	A	T	10: 130,126,762	N98K	probably benign	Het
Oog2	G	T	4: 144,194,115	M39I	probably benign	Het
Osbpl3	A	T	6: 50,327,391	N461K	probably benign	Het
P4ha1	A	G	10: 59,339,308	D30G	possibly damaging	Het
Pappa2	A	T	1: 158,763,192	C1631S	probably damaging	Het
Pigk	A	G	3: 152,740,234	M161V	possibly damaging	Het
Prdm1	G	T	10: 44,441,339	S496Y	probably damaging	Het
Prkg2	T	C	5: 98,947,440	N624S	possibly damaging	Het
Rgs6	A	G	12: 83,065,959	D181G	probably damaging	Het
Sbf2	A	G	7: 110,440,948		probably null	Het
Sbno2	A	C	10: 80,062,208	L728W	probably damaging	Het
Selenbp2	A	T	3: 94,702,486	I310F	probably damaging	Het
Shank3	T	A	15: 89,548,783	W1244R	possibly damaging	Het
Slc17a2	A	C	13: 23,820,201	I395L	probably benign	Het
Slf1	A	T	13: 77,046,574	D877E	probably damaging	Het
Smtn	T	C	11: 3,522,908	S255G	probably benign	Het
Tbx2	T	A	11: 85,834,707	D161E	probably damaging	Het
Tex14	C	A	11: 87,433,849	L26M	possibly damaging	Het
Traf7	A	G	17: 24,512,312	F249S	probably damaging	Het
Trpm6	A	G	19: 18,838,002	K1151E	possibly damaging	Het
Ttc7b	A	G	12: 100,301,763	V773A	probably benign	Het
Ttn	G	A	2: 76,772,510	T18456I	probably damaging	Het
Ttn	G	A	2: 76,917,568	T4379I	probably benign	Het
Ttn	G	C	2: 76,878,827	L8703V	unknown	Het
Vmn1r209	A	T	13: 22,806,173	W116R	probably damaging	Het
Vmn1r75	A	G	7: 11,880,911	D190G	probably damaging	Het
Wdr12	T	A	1: 60,091,043	M70L	probably benign	Het
Wdr48	C	A	9: 119,911,076	T317K	probably damaging	Het
Zbtb5	A	G	4: 44,993,962	V474A	probably benign	Het
Zfp128	C	T	7: 12,891,186	R494C	possibly damaging	Het

Other mutations in Ubb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03302:Ubb	APN	11	62552417	missense	probably damaging	1.00
BB009:Ubb	UTSW	11	62552785	nonsense	probably null
BB019:Ubb	UTSW	11	62552785	nonsense	probably null
R1120:Ubb	UTSW	11	62552183	missense	possibly damaging	0.94
R6223:Ubb	UTSW	11	62552525	missense	possibly damaging	0.91
R6753:Ubb	UTSW	11	62551527	splice site	probably null
R7932:Ubb	UTSW	11	62552785	nonsense	probably null
R8201:Ubb	UTSW	11	62552227	missense	probably benign	0.00
R9492:Ubb	UTSW	11	62552158	missense	probably damaging	1.00
R9705:Ubb	UTSW	11	62552549	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TGTTCCAAATGCCAGTTTAGTG -3'
(R):5'- ATCTGCATGCCACCTCTCAG -3'

Sequencing Primer
(F):5'- CCAAATGCCAGTTTAGTGTTTTG -3'
(R):5'- ACTCCTTCTGGATGTTGTAATCAGAG -3'

Posted On

2021-11-19