Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02008:Ubqln3'

183250

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubqln3

Ensembl Gene

ENSMUSG00000051618

Gene Name

ubiquilin 3

Synonyms

4933400K24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

103789830-103792486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103791523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 189 (Q189L)

Ref Sequence

ENSEMBL: ENSMUSP00000055229 (fasta)

Gene Model

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

AlphaFold

Q8C5U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000057254
AA Change: Q189L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055229
Gene: ENSMUSG00000051618
AA Change: Q189L

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

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,969,750 (GRCm39)	T2252A	probably benign	Het
Abcc2	C	T	19: 43,810,189 (GRCm39)		probably benign	Het
Abcf1	T	C	17: 36,272,954 (GRCm39)	E231G	probably benign	Het
Astn2	T	C	4: 65,977,390 (GRCm39)	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,671,766 (GRCm39)		probably benign	Het
Atr	T	A	9: 95,763,473 (GRCm39)		probably benign	Het
Bdp1	A	G	13: 100,160,335 (GRCm39)	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,402,886 (GRCm39)	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,692,885 (GRCm39)	S218G	probably null	Het
Cand2	T	C	6: 115,780,599 (GRCm39)	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,398,824 (GRCm39)	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,487,291 (GRCm39)	V161D	probably damaging	Het
Ctsh	A	G	9: 89,943,600 (GRCm39)	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,677,371 (GRCm39)	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,677,372 (GRCm39)	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,079,543 (GRCm39)	W212*	probably null	Het
Dnah5	T	A	15: 28,343,698 (GRCm39)	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,590,320 (GRCm39)	M794T	probably damaging	Het
F11	G	T	8: 45,703,132 (GRCm39)	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,690,165 (GRCm39)	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705 (GRCm38)	I347V	probably benign	Het
Fip1l1	C	T	5: 74,706,084 (GRCm39)	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,252,211 (GRCm39)	D598A	probably benign	Het
Gm1110	T	A	9: 26,794,526 (GRCm39)	D500V	probably benign	Het
Gm3248	T	A	14: 5,943,928 (GRCm38)	M99L	probably benign	Het
Gpi-ps	A	T	8: 5,689,896 (GRCm39)		noncoding transcript	Het
Hspa9	G	A	18: 35,081,028 (GRCm39)	R218*	probably null	Het
Ikbip	G	A	10: 90,929,119 (GRCm39)		probably null	Het
Kcnb2	C	T	1: 15,781,033 (GRCm39)	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,869,105 (GRCm39)	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,791,219 (GRCm39)	T442A	probably benign	Het
Mgat1	T	A	11: 49,151,562 (GRCm39)	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,084,576 (GRCm39)	S334R	probably benign	Het
Notch2	A	T	3: 98,054,612 (GRCm39)	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,104,089 (GRCm39)	V520M	probably damaging	Het
Or10d1b	A	G	9: 39,613,549 (GRCm39)	V172A	probably damaging	Het
Or4p18	T	A	2: 88,232,421 (GRCm39)	T286S	possibly damaging	Het
Or5d39	A	T	2: 87,979,922 (GRCm39)	V147E	probably damaging	Het
Or6c3b	T	A	10: 129,527,887 (GRCm39)	T8S	probably benign	Het
Or8g55	A	T	9: 39,784,781 (GRCm39)	D70V	probably damaging	Het
Or8k39	A	C	2: 86,563,521 (GRCm39)	I145R	possibly damaging	Het
Osr2	A	G	15: 35,302,138 (GRCm39)	H246R	probably damaging	Het
Papolg	T	C	11: 23,829,898 (GRCm39)	R224G	probably damaging	Het
Pax6	T	A	2: 105,522,623 (GRCm39)		probably null	Het
Pcyox1	A	G	6: 86,369,250 (GRCm39)	V192A	probably benign	Het
Phf1	C	T	17: 27,154,260 (GRCm39)	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,260,129 (GRCm39)	R45W	probably damaging	Het
Psmb9	T	A	17: 34,402,653 (GRCm39)	K109M	probably damaging	Het
Ptprt	T	A	2: 161,769,593 (GRCm39)	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,580,592 (GRCm39)	I70V	probably benign	Het
Rnf213	G	A	11: 119,309,135 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,905,368 (GRCm39)	I271F	probably benign	Het
Satb2	T	A	1: 56,835,952 (GRCm39)	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,375,859 (GRCm39)	G159V	possibly damaging	Het
Slit1	T	C	19: 41,634,579 (GRCm39)	I393V	probably damaging	Het
Spata20	T	A	11: 94,374,289 (GRCm39)	D327V	probably damaging	Het
Spata31e3	G	A	13: 50,400,721 (GRCm39)	P535L	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Tbc1d32	G	T	10: 56,027,871 (GRCm39)	Q744K	possibly damaging	Het
Tmem108	G	T	9: 103,366,439 (GRCm39)	N517K	possibly damaging	Het
Trp63	T	A	16: 25,681,211 (GRCm39)	N160K	probably damaging	Het
Ttll5	T	C	12: 85,980,385 (GRCm39)	S119P	probably damaging	Het
Vwa5a	G	A	9: 38,649,072 (GRCm39)	R638H	probably benign	Het
Wdr3	A	G	3: 100,058,298 (GRCm39)	S436P	probably damaging	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfp976	A	T	7: 42,263,656 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,657,303 (GRCm39)	M860V	probably damaging	Het
Zscan4d	T	C	7: 10,896,296 (GRCm39)	E358G	probably benign	Het

Other mutations in Ubqln3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Ubqln3	APN	7	103,790,984 (GRCm39)	missense	probably benign	0.00
IGL00766:Ubqln3	APN	7	103,792,031 (GRCm39)	missense	probably benign	0.00
IGL01451:Ubqln3	APN	7	103,791,403 (GRCm39)	missense	possibly damaging	0.71
IGL01673:Ubqln3	APN	7	103,791,605 (GRCm39)	missense	probably benign	0.12
IGL01705:Ubqln3	APN	7	103,791,884 (GRCm39)	missense	probably damaging	1.00
IGL01988:Ubqln3	APN	7	103,792,089 (GRCm39)	utr 5 prime	probably benign
IGL02072:Ubqln3	APN	7	103,790,506 (GRCm39)	missense	possibly damaging	0.69
IGL02546:Ubqln3	APN	7	103,791,725 (GRCm39)	missense	probably benign	0.02
IGL02657:Ubqln3	APN	7	103,791,170 (GRCm39)	missense	probably damaging	0.97
IGL02682:Ubqln3	APN	7	103,791,272 (GRCm39)	missense	probably benign	0.19
IGL02709:Ubqln3	APN	7	103,790,543 (GRCm39)	missense	probably benign	0.12
IGL03357:Ubqln3	APN	7	103,791,763 (GRCm39)	missense	probably benign
PIT4544001:Ubqln3	UTSW	7	103,790,550 (GRCm39)	missense	probably damaging	0.97
R0180:Ubqln3	UTSW	7	103,791,047 (GRCm39)	missense	probably damaging	1.00
R0845:Ubqln3	UTSW	7	103,791,275 (GRCm39)	missense	probably damaging	0.98
R1019:Ubqln3	UTSW	7	103,790,593 (GRCm39)	missense	probably benign	0.00
R1280:Ubqln3	UTSW	7	103,791,283 (GRCm39)	missense	possibly damaging	0.85
R1448:Ubqln3	UTSW	7	103,791,997 (GRCm39)	missense	probably damaging	1.00
R1550:Ubqln3	UTSW	7	103,790,753 (GRCm39)	missense	probably damaging	0.98
R1617:Ubqln3	UTSW	7	103,792,067 (GRCm39)	missense	possibly damaging	0.95
R1650:Ubqln3	UTSW	7	103,790,228 (GRCm39)	missense	possibly damaging	0.84
R2060:Ubqln3	UTSW	7	103,791,358 (GRCm39)	missense	probably damaging	1.00
R2246:Ubqln3	UTSW	7	103,791,518 (GRCm39)	missense	probably damaging	1.00
R2263:Ubqln3	UTSW	7	103,790,842 (GRCm39)	nonsense	probably null
R2366:Ubqln3	UTSW	7	103,790,256 (GRCm39)	missense	probably damaging	0.99
R4232:Ubqln3	UTSW	7	103,791,010 (GRCm39)	missense	probably benign	0.00
R4447:Ubqln3	UTSW	7	103,792,021 (GRCm39)	missense	probably benign	0.31
R4509:Ubqln3	UTSW	7	103,790,651 (GRCm39)	missense	probably damaging	0.97
R4604:Ubqln3	UTSW	7	103,791,698 (GRCm39)	missense	probably benign	0.00
R5416:Ubqln3	UTSW	7	103,790,879 (GRCm39)	missense	probably benign	0.34
R5617:Ubqln3	UTSW	7	103,791,640 (GRCm39)	missense	probably damaging	0.99
R5648:Ubqln3	UTSW	7	103,790,117 (GRCm39)	missense	probably damaging	0.99
R5722:Ubqln3	UTSW	7	103,790,674 (GRCm39)	missense	probably benign	0.00
R5723:Ubqln3	UTSW	7	103,790,674 (GRCm39)	missense	probably benign	0.00
R5724:Ubqln3	UTSW	7	103,790,674 (GRCm39)	missense	probably benign	0.00
R5819:Ubqln3	UTSW	7	103,790,674 (GRCm39)	missense	probably benign	0.00
R5820:Ubqln3	UTSW	7	103,790,674 (GRCm39)	missense	probably benign	0.00
R5966:Ubqln3	UTSW	7	103,790,906 (GRCm39)	missense	probably benign	0.03
R6260:Ubqln3	UTSW	7	103,791,524 (GRCm39)	nonsense	probably null
R6272:Ubqln3	UTSW	7	103,791,385 (GRCm39)	missense	probably damaging	1.00
R6542:Ubqln3	UTSW	7	103,790,824 (GRCm39)	missense	probably benign	0.00
R6936:Ubqln3	UTSW	7	103,791,517 (GRCm39)	missense	probably damaging	1.00
R7023:Ubqln3	UTSW	7	103,790,630 (GRCm39)	missense	probably damaging	1.00
R7025:Ubqln3	UTSW	7	103,790,482 (GRCm39)	missense	probably benign	0.01
R7079:Ubqln3	UTSW	7	103,790,578 (GRCm39)	missense	probably benign	0.12
R7733:Ubqln3	UTSW	7	103,790,283 (GRCm39)	missense	probably damaging	0.98
R7764:Ubqln3	UTSW	7	103,790,443 (GRCm39)	missense	possibly damaging	0.52
R7919:Ubqln3	UTSW	7	103,790,399 (GRCm39)	missense	probably benign	0.03
R7961:Ubqln3	UTSW	7	103,791,797 (GRCm39)	missense	probably benign	0.00
R8009:Ubqln3	UTSW	7	103,791,797 (GRCm39)	missense	probably benign	0.00
R9619:Ubqln3	UTSW	7	103,791,053 (GRCm39)	missense	probably benign	0.05
R9652:Ubqln3	UTSW	7	103,791,962 (GRCm39)	missense	probably damaging	1.00
RF054:Ubqln3	UTSW	7	103,790,385 (GRCm39)	frame shift	probably null

Posted On

2014-05-07