Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Ubqln3'

735377

Institutional Source

Beutler Lab

Gene Symbol

Ubqln3

Ensembl Gene

ENSMUSG00000051618

Gene Name

ubiquilin 3

Synonyms

4933400K24Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103789830-103792486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103791962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 43 (I43V)

Ref Sequence

ENSEMBL: ENSMUSP00000055229 (fasta)

Gene Model

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

AlphaFold

Q8C5U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000057254
AA Change: I43V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055229
Gene: ENSMUSG00000051618
AA Change: I43V

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,876,432 (GRCm39)	T395M	probably damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Atr	T	A	9: 95,756,887 (GRCm39)	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,981,129 (GRCm39)	F86L	probably damaging	Het
Bmp1	T	C	14: 70,715,360 (GRCm39)	D925G	probably damaging	Het
Camkmt	A	T	17: 85,759,713 (GRCm39)	R284S	probably benign	Het
Cavin3	G	T	7: 105,131,304 (GRCm39)	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,334,553 (GRCm39)	H180R		Het
Cdh23	A	T	10: 60,167,135 (GRCm39)	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chpt1	T	C	10: 88,325,499 (GRCm39)	N122S	probably benign	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Eif3i	G	T	4: 129,489,094 (GRCm39)	F121L	probably benign	Het
Erbb2	T	C	11: 98,326,812 (GRCm39)	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbn2	A	G	18: 58,146,722 (GRCm39)		probably null	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gm2a	T	C	11: 54,999,764 (GRCm39)	V95A	probably benign	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gramd4	G	A	15: 86,016,160 (GRCm39)	E504K	probably damaging	Het
Gusb	A	G	5: 130,026,652 (GRCm39)	S450P	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Katnbl1	T	A	2: 112,239,497 (GRCm39)	V232D	probably damaging	Het
Kifap3	T	C	1: 163,689,657 (GRCm39)	L547P	probably damaging	Het
Krt6a	C	T	15: 101,599,120 (GRCm39)	V482M	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Mical2	G	T	7: 111,945,996 (GRCm39)	R986L	probably damaging	Het
Mroh8	G	A	2: 157,094,970 (GRCm39)	Q339*	probably null	Het
Msln	A	T	17: 25,968,042 (GRCm39)	V541E	probably damaging	Het
Muc16	T	A	9: 18,498,178 (GRCm39)	M6590L	probably benign	Het
Nhsl3	T	C	4: 129,117,962 (GRCm39)	E279G	possibly damaging	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Nubp2	G	A	17: 25,103,382 (GRCm39)	T165I	probably damaging	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or2a7	A	G	6: 43,150,991 (GRCm39)	M24V	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Or6c33	T	C	10: 129,853,809 (GRCm39)	I193T	possibly damaging	Het
Or7a41	T	C	10: 78,871,230 (GRCm39)	I200T	probably benign	Het
Or8k39	A	T	2: 86,563,636 (GRCm39)	F107I	probably damaging	Het
P3h4	A	T	11: 100,304,499 (GRCm39)	C247*	probably null	Het
Pakap	G	A	4: 57,710,125 (GRCm39)	A357T	possibly damaging	Het
Plch2	T	A	4: 155,082,942 (GRCm39)	M569L	probably benign	Het
Plcl1	A	G	1: 55,735,450 (GRCm39)	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,904,526 (GRCm39)	N178K	probably benign	Het
Rasa4	T	C	5: 136,130,494 (GRCm39)	L340P	probably damaging	Het
Rassf10	A	G	7: 112,554,784 (GRCm39)	T462A	probably benign	Het
Rlf	G	C	4: 121,007,865 (GRCm39)	L482V	probably damaging	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,269,714 (GRCm39)	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,635,047 (GRCm39)	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,382,252 (GRCm39)	Q765R	probably damaging	Het
Senp6	T	A	9: 80,021,228 (GRCm39)	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,790,848 (GRCm39)	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,594,358 (GRCm39)		probably null	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Ssb	C	A	2: 69,700,784 (GRCm39)	A288E	probably damaging	Het
Syne2	A	G	12: 76,101,620 (GRCm39)	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,527,698 (GRCm39)	S43P	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,173 (GRCm39)	R657*	probably null	Het
Traf6	T	C	2: 101,518,927 (GRCm39)	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,720,390 (GRCm39)	N424K	possibly damaging	Het
Usp32	A	G	11: 84,921,317 (GRCm39)	V699A	probably damaging	Het
Vmn2r103	T	C	17: 20,014,027 (GRCm39)	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,951,107 (GRCm39)	S113P	probably benign	Het
Wdr7	T	A	18: 63,860,826 (GRCm39)	I161N	probably damaging	Het
Zfp474	A	T	18: 52,772,015 (GRCm39)	I223F	probably damaging	Het
Zfp583	A	G	7: 6,320,328 (GRCm39)	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,165,856 (GRCm39)	T76A	possibly 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
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
RF054:Ubqln3	UTSW	7	103,790,385 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTGGAATAGAGACTGGTG -3'
(R):5'- GGATGATCTTCGTCTCCCAC -3'

Sequencing Primer
(F):5'- CCTGGAATAGAGACTGGTGGTGATG -3'
(R):5'- CCCCCATCCCCTCAGCTG -3'

Posted On

2022-11-14