Mutagenetix > Incidental Mutation

Incidental Mutation 'R1280:Ubqln3'

151003

Institutional Source

Beutler Lab

Gene Symbol

Ubqln3

Ensembl Gene

ENSMUSG00000051618

Gene Name

ubiquilin 3

Synonyms

4933400K24Rik

MMRRC Submission

039346-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R1280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104140623-104143279 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104142076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 269 (V269A)

Ref Sequence

ENSEMBL: ENSMUSP00000055229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057254] [ENSMUST00000138055]

AlphaFold

Q8C5U9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057254
AA Change: V269A

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055229
Gene: ENSMUSG00000051618
AA Change: V269A

Domain	Start	End	E-Value	Type
UBQ	22	92	1.56e-15	SMART
low complexity region	103	115	N/A	INTRINSIC
low complexity region	120	151	N/A	INTRINSIC
STI1	194	233	4.25e-7	SMART
low complexity region	280	291	N/A	INTRINSIC
low complexity region	313	328	N/A	INTRINSIC
low complexity region	505	515	N/A	INTRINSIC
UBA	619	657	4.22e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and are thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis. It has been suggested that this gene may regulate cell-cycle progression during spermatogenesis, however, it has been shown that the ortholgous mouse gene is dispensable for embryonic development and spermatogenesis. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and developmentally normal with no apparent defects in male fertility or spermatogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,124,226 (GRCm38)	E148K	probably damaging	Het
Atp5mc3	G	T	2: 73,909,370 (GRCm38)	T42K	possibly damaging	Het
Brd2	T	C	17: 34,114,150 (GRCm38)	M60V	possibly damaging	Het
Cabp1	T	C	5: 115,175,471 (GRCm38)	N226S	probably benign	Het
Cers6	G	A	2: 69,068,689 (GRCm38)	V224I	probably benign	Het
Entpd2	C	T	2: 25,399,484 (GRCm38)	S326F	probably damaging	Het
Fez1	GACAAACA	GACA	9: 36,870,549 (GRCm38)		probably null	Het
Gjb3	G	A	4: 127,326,431 (GRCm38)	R103W	probably damaging	Het
Klhdc7a	G	A	4: 139,965,453 (GRCm38)	R728C	probably benign	Het
Myo18b	A	G	5: 112,723,805 (GRCm38)		probably null	Het
Mzf1	A	T	7: 13,053,083 (GRCm38)	L20Q	probably damaging	Het
Neil1	T	C	9: 57,146,901 (GRCm38)	Y45C	probably damaging	Het
Or2ad1	C	T	13: 21,142,167 (GRCm38)	V297I	probably benign	Het
Rbm12	T	C	2: 156,096,829 (GRCm38)	K508E	probably damaging	Het
Socs4	A	T	14: 47,290,913 (GRCm38)	Q435L	probably benign	Het
Tdrd9	T	C	12: 112,039,408 (GRCm38)	V905A	probably damaging	Het
Tekt4	T	A	17: 25,471,887 (GRCm38)	W56R	probably damaging	Het
Ttn	A	T	2: 76,778,164 (GRCm38)	I16059N	possibly damaging	Het
Vps54	T	A	11: 21,277,868 (GRCm38)	I273N	possibly damaging	Het
Zfp831	A	G	2: 174,704,059 (GRCm38)	K1319R	probably benign	Het

Other mutations in Ubqln3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Ubqln3	APN	7	104,141,777 (GRCm38)	missense	probably benign	0.00
IGL00766:Ubqln3	APN	7	104,142,824 (GRCm38)	missense	probably benign	0.00
IGL01451:Ubqln3	APN	7	104,142,196 (GRCm38)	missense	possibly damaging	0.71
IGL01673:Ubqln3	APN	7	104,142,398 (GRCm38)	missense	probably benign	0.12
IGL01705:Ubqln3	APN	7	104,142,677 (GRCm38)	missense	probably damaging	1.00
IGL01988:Ubqln3	APN	7	104,142,882 (GRCm38)	utr 5 prime	probably benign
IGL02008:Ubqln3	APN	7	104,142,316 (GRCm38)	missense	probably damaging	1.00
IGL02072:Ubqln3	APN	7	104,141,299 (GRCm38)	missense	possibly damaging	0.69
IGL02546:Ubqln3	APN	7	104,142,518 (GRCm38)	missense	probably benign	0.02
IGL02657:Ubqln3	APN	7	104,141,963 (GRCm38)	missense	probably damaging	0.97
IGL02682:Ubqln3	APN	7	104,142,065 (GRCm38)	missense	probably benign	0.19
IGL02709:Ubqln3	APN	7	104,141,336 (GRCm38)	missense	probably benign	0.12
IGL03357:Ubqln3	APN	7	104,142,556 (GRCm38)	missense	probably benign
PIT4544001:Ubqln3	UTSW	7	104,141,343 (GRCm38)	missense	probably damaging	0.97
R0180:Ubqln3	UTSW	7	104,141,840 (GRCm38)	missense	probably damaging	1.00
R0845:Ubqln3	UTSW	7	104,142,068 (GRCm38)	missense	probably damaging	0.98
R1019:Ubqln3	UTSW	7	104,141,386 (GRCm38)	missense	probably benign	0.00
R1448:Ubqln3	UTSW	7	104,142,790 (GRCm38)	missense	probably damaging	1.00
R1550:Ubqln3	UTSW	7	104,141,546 (GRCm38)	missense	probably damaging	0.98
R1617:Ubqln3	UTSW	7	104,142,860 (GRCm38)	missense	possibly damaging	0.95
R1650:Ubqln3	UTSW	7	104,141,021 (GRCm38)	missense	possibly damaging	0.84
R2060:Ubqln3	UTSW	7	104,142,151 (GRCm38)	missense	probably damaging	1.00
R2246:Ubqln3	UTSW	7	104,142,311 (GRCm38)	missense	probably damaging	1.00
R2263:Ubqln3	UTSW	7	104,141,635 (GRCm38)	nonsense	probably null
R2366:Ubqln3	UTSW	7	104,141,049 (GRCm38)	missense	probably damaging	0.99
R4232:Ubqln3	UTSW	7	104,141,803 (GRCm38)	missense	probably benign	0.00
R4447:Ubqln3	UTSW	7	104,142,814 (GRCm38)	missense	probably benign	0.31
R4509:Ubqln3	UTSW	7	104,141,444 (GRCm38)	missense	probably damaging	0.97
R4604:Ubqln3	UTSW	7	104,142,491 (GRCm38)	missense	probably benign	0.00
R5416:Ubqln3	UTSW	7	104,141,672 (GRCm38)	missense	probably benign	0.34
R5617:Ubqln3	UTSW	7	104,142,433 (GRCm38)	missense	probably damaging	0.99
R5648:Ubqln3	UTSW	7	104,140,910 (GRCm38)	missense	probably damaging	0.99
R5722:Ubqln3	UTSW	7	104,141,467 (GRCm38)	missense	probably benign	0.00
R5723:Ubqln3	UTSW	7	104,141,467 (GRCm38)	missense	probably benign	0.00
R5724:Ubqln3	UTSW	7	104,141,467 (GRCm38)	missense	probably benign	0.00
R5819:Ubqln3	UTSW	7	104,141,467 (GRCm38)	missense	probably benign	0.00
R5820:Ubqln3	UTSW	7	104,141,467 (GRCm38)	missense	probably benign	0.00
R5966:Ubqln3	UTSW	7	104,141,699 (GRCm38)	missense	probably benign	0.03
R6260:Ubqln3	UTSW	7	104,142,317 (GRCm38)	nonsense	probably null
R6272:Ubqln3	UTSW	7	104,142,178 (GRCm38)	missense	probably damaging	1.00
R6542:Ubqln3	UTSW	7	104,141,617 (GRCm38)	missense	probably benign	0.00
R6936:Ubqln3	UTSW	7	104,142,310 (GRCm38)	missense	probably damaging	1.00
R7023:Ubqln3	UTSW	7	104,141,423 (GRCm38)	missense	probably damaging	1.00
R7025:Ubqln3	UTSW	7	104,141,275 (GRCm38)	missense	probably benign	0.01
R7079:Ubqln3	UTSW	7	104,141,371 (GRCm38)	missense	probably benign	0.12
R7733:Ubqln3	UTSW	7	104,141,076 (GRCm38)	missense	probably damaging	0.98
R7764:Ubqln3	UTSW	7	104,141,236 (GRCm38)	missense	possibly damaging	0.52
R7919:Ubqln3	UTSW	7	104,141,192 (GRCm38)	missense	probably benign	0.03
R7961:Ubqln3	UTSW	7	104,142,590 (GRCm38)	missense	probably benign	0.00
R8009:Ubqln3	UTSW	7	104,142,590 (GRCm38)	missense	probably benign	0.00
R9619:Ubqln3	UTSW	7	104,141,846 (GRCm38)	missense	probably benign	0.05
R9652:Ubqln3	UTSW	7	104,142,755 (GRCm38)	missense	probably damaging	1.00
RF054:Ubqln3	UTSW	7	104,141,178 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTTACCCAGAAAGCTTGGAAGCC -3'
(R):5'- TCTTGACAATCCTCACATGCAGCAC -3'

Sequencing Primer
(F):5'- GGAAGCCTATTTCTATTTTCAGATGC -3'
(R):5'- CAGAACCCTGAGATTGGTCATATTC -3'

Posted On

2014-01-29