Mutagenetix > Incidental Mutation

Incidental Mutation 'R6260:Ubqln3'

506622

Institutional Source

Beutler Lab

Gene Symbol

Ubqln3

Ensembl Gene

ENSMUSG00000051618

Gene Name

ubiquilin 3

Synonyms

4933400K24Rik

MMRRC Submission

044377-MU

Accession Numbers

Essential gene?

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

Stock #

R6260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103789830-103792486 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 103791524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 189 (Q189*)

Ref Sequence

ENSEMBL: ENSMUSP00000055229 (fasta)

Gene Model

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

AlphaFold

Q8C5U9

Predicted Effect

probably null
Transcript: ENSMUST00000057254
AA Change: Q189*

SMART Domains

Protein: ENSMUSP00000055229
Gene: ENSMUSG00000051618
AA Change: Q189*

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

Meta Mutation Damage Score

0.9718

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,844,821 (GRCm39)	N1514K	probably damaging	Het
Abcb4	G	T	5: 8,984,219 (GRCm39)	G650*	probably null	Het
Acsbg1	T	A	9: 54,535,751 (GRCm39)		probably null	Het
Alms1	A	T	6: 85,605,717 (GRCm39)	K2456*	probably null	Het
Alppl2	A	T	1: 87,016,184 (GRCm39)	M225K	probably damaging	Het
Ank2	C	T	3: 126,737,206 (GRCm39)	V2806I	probably benign	Het
Atxn10	A	T	15: 85,346,612 (GRCm39)	I457F	probably benign	Het
Cad	G	T	5: 31,224,144 (GRCm39)	M800I	probably null	Het
Carmil3	T	A	14: 55,737,889 (GRCm39)	L815Q	probably damaging	Het
Ccz1	A	G	5: 143,940,859 (GRCm39)		probably null	Het
Cdc73	G	A	1: 143,567,211 (GRCm39)	T104I	probably benign	Het
Cfap52	A	T	11: 67,829,780 (GRCm39)	C330S	possibly damaging	Het
Clec16a	C	T	16: 10,512,712 (GRCm39)		probably benign	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Crocc2	A	G	1: 93,141,360 (GRCm39)	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,676,281 (GRCm39)	V86A	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddhd2	A	G	8: 26,242,144 (GRCm39)	F244L	probably benign	Het
Ddn	A	G	15: 98,703,735 (GRCm39)	V519A	possibly damaging	Het
Dip2b	G	T	15: 100,060,583 (GRCm39)	V253L	probably benign	Het
Dnah17	C	A	11: 118,017,148 (GRCm39)	W197C	probably damaging	Het
Dnah17	A	T	11: 118,017,150 (GRCm39)	W197R	probably damaging	Het
Dnah17	C	T	11: 118,017,149 (GRCm39)	W197*	probably null	Het
Ercc6	T	A	14: 32,279,813 (GRCm39)	D609E	probably benign	Het
Erg	C	A	16: 95,181,100 (GRCm39)	R147L	probably damaging	Het
Fbxo41	A	T	6: 85,455,537 (GRCm39)	L549H	probably damaging	Het
Foxd4	A	G	19: 24,876,968 (GRCm39)	S411P	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Galntl6	T	A	8: 58,337,515 (GRCm39)	D135V	probably damaging	Het
Gm1043	G	C	5: 37,331,816 (GRCm39)	G832A	probably benign	Het
Gm21103	C	T	14: 17,484,841 (GRCm39)	E68K	probably damaging	Het
Gpam	A	G	19: 55,071,838 (GRCm39)	V301A	probably benign	Het
H2-M10.1	T	A	17: 36,634,994 (GRCm39)	I304F	unknown	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jak3	C	A	8: 72,131,954 (GRCm39)	Q177K	probably benign	Het
Kcnu1	G	A	8: 26,341,919 (GRCm39)	R88H	probably damaging	Het
Kng1	A	T	16: 22,877,371 (GRCm39)	I60F	possibly damaging	Het
Krt77	A	T	15: 101,772,807 (GRCm39)	Y257*	probably null	Het
Lcor	A	T	19: 41,570,809 (GRCm39)	S1C	probably null	Het
Lcor	G	T	19: 41,570,810 (GRCm39)	S1I	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Map4k5	C	A	12: 69,878,336 (GRCm39)	R355L	probably benign	Het
Mefv	C	T	16: 3,530,898 (GRCm39)	R498H	probably benign	Het
Mical3	A	T	6: 120,985,991 (GRCm39)	L150Q	probably damaging	Het
Mtcl1	T	A	17: 66,650,536 (GRCm39)	Q1340L	probably damaging	Het
Nfic	A	T	10: 81,256,351 (GRCm39)	C126*	probably null	Het
Nisch	T	A	14: 30,899,085 (GRCm39)		probably benign	Het
Nt5dc3	A	G	10: 86,647,395 (GRCm39)	Y130C	probably damaging	Het
Or2ag1b	A	T	7: 106,288,079 (GRCm39)	N286K	probably damaging	Het
Or4f15	C	T	2: 111,814,396 (GRCm39)	V8I	probably benign	Het
Or6c65	C	A	10: 129,603,389 (GRCm39)	T8K	probably benign	Het
Pcdhb12	T	C	18: 37,569,892 (GRCm39)	V346A	probably benign	Het
Pla2g4a	A	G	1: 149,733,238 (GRCm39)	S504P	probably benign	Het
Plin2	G	T	4: 86,575,526 (GRCm39)	A341D	probably damaging	Het
Plxnb2	A	T	15: 89,049,494 (GRCm39)	I575N	probably benign	Het
Pnma8b	T	G	7: 16,680,158 (GRCm39)	W381G	probably benign	Het
Psma8	A	G	18: 14,854,324 (GRCm39)	D68G	probably damaging	Het
Rcor3	G	A	1: 191,808,559 (GRCm39)	H207Y	probably benign	Het
Rwdd2b	C	A	16: 87,231,356 (GRCm39)	G266V	probably damaging	Het
Ryr3	A	G	2: 112,490,449 (GRCm39)	F3795S	probably damaging	Het
Slc28a2b	A	T	2: 122,353,963 (GRCm39)	I530F	probably damaging	Het
Sord	T	A	2: 122,089,613 (GRCm39)		probably null	Het
Spdl1	T	A	11: 34,710,713 (GRCm39)	N345I	probably damaging	Het
St8sia2	T	A	7: 73,626,441 (GRCm39)	R42S	possibly damaging	Het
Syt9	G	T	7: 107,035,717 (GRCm39)	V245F	possibly damaging	Het
Tbpl2	T	A	2: 23,984,898 (GRCm39)	N82I	possibly damaging	Het
Tcerg1	T	A	18: 42,686,530 (GRCm39)	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,595,655 (GRCm39)	T492A	probably benign	Het
Timm13	A	C	10: 80,736,135 (GRCm39)		probably benign	Het
Trdmt1	T	A	2: 13,524,870 (GRCm39)	Q195L	probably benign	Het
Ttc27	T	A	17: 75,165,086 (GRCm39)	V764D	probably damaging	Het
Ttc39d	C	A	17: 80,524,076 (GRCm39)	S245*	probably null	Het
Ttc41	A	G	10: 86,567,023 (GRCm39)	E563G	probably benign	Het
Ttc41	A	T	10: 86,569,571 (GRCm39)	T650S	probably benign	Het
U2surp	A	C	9: 95,358,210 (GRCm39)	L723R	probably damaging	Het
Vezf1	A	G	11: 87,972,326 (GRCm39)	N229S	probably damaging	Het
Vmn2r79	T	A	7: 86,686,365 (GRCm39)	M582K	probably benign	Het
Zfp518a	A	G	19: 40,902,567 (GRCm39)	D832G	probably benign	Het
Zfyve28	T	C	5: 34,356,216 (GRCm39)	N762D	probably damaging	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
IGL02008:Ubqln3	APN	7	103,791,523 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGTGTACATAGTACGGAGCAC -3'
(R):5'- GGATGGGTCTCCTTCTTTCAGC -3'

Sequencing Primer
(F):5'- TACGGAGCACATTGTAGCC -3'
(R):5'- TTCAGCTTAGGGGTCCTCACAG -3'

Posted On

2018-03-15