Mutagenetix > Incidental Mutation

Incidental Mutation 'R4604:Ubqln3'

345880

Institutional Source

Beutler Lab

Gene Symbol

Ubqln3

Ensembl Gene

ENSMUSG00000051618

Gene Name

ubiquilin 3

Synonyms

4933400K24Rik

MMRRC Submission

041816-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R4604 (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 104142491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 131 (S131P)

Ref Sequence

ENSEMBL: ENSMUSP00000055229 (fasta)

Gene Model

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

AlphaFold

Q8C5U9

Predicted Effect

probably benign
Transcript: ENSMUST00000057254
AA Change: S131P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055229
Gene: ENSMUSG00000051618
AA Change: S131P

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	C	T	2: 156,857,154		probably benign	Het
Abcb6	G	A	1: 75,179,877	T81I	probably benign	Het
Acp6	A	G	3: 97,175,759	K362R	probably benign	Het
Adam26a	A	G	8: 43,570,051	M134T	probably benign	Het
Ankrd27	C	T	7: 35,628,490	P812S	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Atp2a1	G	A	7: 126,448,623	R672C	probably damaging	Het
Atxn2	G	T	5: 121,781,343	W371C	probably damaging	Het
B3gnt2	T	TTCACAAA	11: 22,836,426		probably null	Het
Btnl6	T	A	17: 34,508,461	D365V	possibly damaging	Het
Ccdc80	T	A	16: 45,095,565	L228Q	probably damaging	Het
Cdc42bpa	A	G	1: 180,109,194	H718R	probably benign	Het
Cdh18	A	G	15: 23,474,368	K775E	probably benign	Het
Cdh23	T	G	10: 60,337,666	N1679T	possibly damaging	Het
Cep192	T	A	18: 67,815,922	D271E	possibly damaging	Het
Cfap70	G	T	14: 20,443,661	T124K	probably benign	Het
Ckap5	A	T	2: 91,578,131	E890D	probably benign	Het
Col22a1	G	T	15: 71,952,339	P569T	probably benign	Het
Colq	A	T	14: 31,545,103	L150Q	possibly damaging	Het
Csf1	T	C	3: 107,756,962		probably null	Het
Csmd3	A	T	15: 48,004,815	S770T	possibly damaging	Het
Cul9	C	A	17: 46,530,146	V733L	probably damaging	Het
Cyp2c55	A	G	19: 39,031,386	D256G	possibly damaging	Het
D17Wsu92e	T	C	17: 27,820,315	D7G	probably damaging	Het
Dclk3	A	T	9: 111,469,185	D599V	probably damaging	Het
Defb26	T	A	2: 152,508,184	I59F	possibly damaging	Het
Dnah6	A	G	6: 73,129,660	V1646A	possibly damaging	Het
Dnm2	T	C	9: 21,504,664		probably null	Het
Dock6	A	G	9: 21,802,540	L1867P	probably damaging	Het
Dock9	G	T	14: 121,668,459	T93K	probably damaging	Het
Dync2h1	T	C	9: 7,140,995	H1344R	probably benign	Het
Enam	A	C	5: 88,504,283	Q1217P	possibly damaging	Het
Fbf1	A	T	11: 116,158,922	D91E	possibly damaging	Het
Fbxo7	T	G	10: 86,046,802	W393G	probably damaging	Het
Gab2	A	G	7: 97,304,213	T599A	probably damaging	Het
Gfy	T	A	7: 45,177,188	I409F	possibly damaging	Het
Gm19345	T	A	7: 19,857,508		probably null	Het
Gm4787	A	G	12: 81,379,213	M57T	probably benign	Het
Gper1	A	G	5: 139,426,725	E275G	probably damaging	Het
Grik4	T	C	9: 42,524,586	E803G	probably damaging	Het
Gstm3	G	A	3: 107,968,197	P39L	possibly damaging	Het
Hax1	A	T	3: 89,997,460	V142D	probably damaging	Het
Hcn3	A	T	3: 89,150,440	I383N	probably damaging	Het
Hdac10	C	A	15: 89,125,397		probably null	Het
Hipk3	A	C	2: 104,439,329	M505R	probably damaging	Het
Hivep1	C	T	13: 42,159,749	P1822S	probably benign	Het
Hsd17b13	G	T	5: 103,956,258	H281N	unknown	Het
Irak2	T	A	6: 113,672,887	I222N	probably damaging	Het
Kalrn	G	A	16: 34,513,926	L7F	possibly damaging	Het
Kcnma1	A	G	14: 23,309,038		probably null	Het
Kcnn3	G	T	3: 89,520,420		probably benign	Het
Lamb1	A	C	12: 31,278,776	D218A	probably damaging	Het
Lrrtm1	A	T	6: 77,244,144	N195Y	probably damaging	Het
Ltf	A	T	9: 111,022,341	N72I	probably damaging	Het
Mcm4	A	G	16: 15,629,663	I479T	probably damaging	Het
Mfhas1	T	C	8: 35,588,610	S80P	probably benign	Het
Mknk1	A	G	4: 115,878,027	E364G	probably damaging	Het
Msh4	C	T	3: 153,872,283	C458Y	probably damaging	Het
Mtrr	A	T	13: 68,564,512		probably null	Het
Myo1a	T	C	10: 127,711,138	W356R	probably damaging	Het
Nbea	A	G	3: 55,723,648	V2186A	probably benign	Het
Nfe2l3	T	C	6: 51,451,012	S185P	probably damaging	Het
Nhsl1	A	C	10: 18,531,410	K1397Q	probably damaging	Het
Nmbr	C	T	10: 14,770,164	R261W	probably damaging	Het
Npy2r	A	G	3: 82,541,058	S137P	probably damaging	Het
Obscn	C	T	11: 59,080,205	G2494D	probably damaging	Het
Obscn	T	C	11: 59,122,746	K1092E	probably damaging	Het
Olfr1019	C	T	2: 85,841,182	C203Y	probably damaging	Het
Oosp2	A	C	19: 11,649,683	I92S	probably benign	Het
Pcdh9	T	C	14: 93,887,180	D518G	probably damaging	Het
Pde11a	G	T	2: 76,337,793	T272K	possibly damaging	Het
Plekha2	T	A	8: 25,059,835	Q162L	probably null	Het
Prkag2	T	A	5: 24,878,734	I84F	probably damaging	Het
Prm2	G	T	16: 10,791,749		probably benign	Het
Prpf40a	A	T	2: 53,142,023	C800S	probably damaging	Het
Prr5l	A	T	2: 101,729,448	C158S	probably benign	Het
Prrt3	C	A	6: 113,498,237	C8F	possibly damaging	Het
Psg25	T	C	7: 18,529,803	T32A	probably benign	Het
Ruvbl1	T	C	6: 88,485,905	V337A	probably benign	Het
Sall1	T	A	8: 89,030,341	Q1045L	probably damaging	Het
Sec22c	T	C	9: 121,695,642	Y25C	probably damaging	Het
Serpina3i	A	T	12: 104,267,777	T335S	possibly damaging	Het
Setd1b	TCCACCACCACCACCACCACCACCA	TCCACCACCACCACCACCACCA	5: 123,152,074		probably benign	Het
Slc12a8	T	A	16: 33,608,159	I279N	probably damaging	Het
Slc15a1	G	A	14: 121,489,907	T83I	probably damaging	Het
Slc22a3	A	G	17: 12,459,771	F222S	probably benign	Het
Sorcs3	A	T	19: 48,693,914	T463S	probably benign	Het
Spsb4	C	A	9: 96,995,878	A131S	probably benign	Het
Syne2	A	G	12: 75,967,710	E3225G	probably damaging	Het
Tchp	G	A	5: 114,719,573		probably null	Het
Tekt4	T	A	17: 25,471,775	D18E	probably benign	Het
Timm50	A	G	7: 28,311,018	V37A	probably benign	Het
Tlx2	A	C	6: 83,068,760	*285G	probably null	Het
Tmem173	T	A	18: 35,738,690	I170F	probably damaging	Het
Tshz1	C	A	18: 84,013,374	D970Y	probably damaging	Het
Ttn	A	T	2: 76,870,461	V50E	probably damaging	Het
Txndc17	T	A	11: 72,209,448	S113T	probably benign	Het
Tyk2	T	C	9: 21,108,009	Y1039C	probably damaging	Het
Uncx	A	T	5: 139,544,082	H30L	possibly damaging	Het
Usp25	T	A	16: 77,115,415	D1007E	probably damaging	Het
Usp47	T	C	7: 112,101,831	V1083A	probably damaging	Het
Wdr24	T	A	17: 25,828,505	H765Q	probably damaging	Het
Wrnip1	A	G	13: 32,802,347	D37G	probably damaging	Het
Xpo6	T	C	7: 126,113,752	T686A	possibly damaging	Het
Zfp941	G	A	7: 140,812,211	R412C	probably damaging	Het
Znrf2	T	A	6: 54,878,440	C71*	probably null	Het

Other mutations in Ubqln3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Ubqln3	APN	7	104141777	missense	probably benign	0.00
IGL00766:Ubqln3	APN	7	104142824	missense	probably benign	0.00
IGL01451:Ubqln3	APN	7	104142196	missense	possibly damaging	0.71
IGL01673:Ubqln3	APN	7	104142398	missense	probably benign	0.12
IGL01705:Ubqln3	APN	7	104142677	missense	probably damaging	1.00
IGL01988:Ubqln3	APN	7	104142882	utr 5 prime	probably benign
IGL02008:Ubqln3	APN	7	104142316	missense	probably damaging	1.00
IGL02072:Ubqln3	APN	7	104141299	missense	possibly damaging	0.69
IGL02546:Ubqln3	APN	7	104142518	missense	probably benign	0.02
IGL02657:Ubqln3	APN	7	104141963	missense	probably damaging	0.97
IGL02682:Ubqln3	APN	7	104142065	missense	probably benign	0.19
IGL02709:Ubqln3	APN	7	104141336	missense	probably benign	0.12
IGL03357:Ubqln3	APN	7	104142556	missense	probably benign
PIT4544001:Ubqln3	UTSW	7	104141343	missense	probably damaging	0.97
R0180:Ubqln3	UTSW	7	104141840	missense	probably damaging	1.00
R0845:Ubqln3	UTSW	7	104142068	missense	probably damaging	0.98
R1019:Ubqln3	UTSW	7	104141386	missense	probably benign	0.00
R1280:Ubqln3	UTSW	7	104142076	missense	possibly damaging	0.85
R1448:Ubqln3	UTSW	7	104142790	missense	probably damaging	1.00
R1550:Ubqln3	UTSW	7	104141546	missense	probably damaging	0.98
R1617:Ubqln3	UTSW	7	104142860	missense	possibly damaging	0.95
R1650:Ubqln3	UTSW	7	104141021	missense	possibly damaging	0.84
R2060:Ubqln3	UTSW	7	104142151	missense	probably damaging	1.00
R2246:Ubqln3	UTSW	7	104142311	missense	probably damaging	1.00
R2263:Ubqln3	UTSW	7	104141635	nonsense	probably null
R2366:Ubqln3	UTSW	7	104141049	missense	probably damaging	0.99
R4232:Ubqln3	UTSW	7	104141803	missense	probably benign	0.00
R4447:Ubqln3	UTSW	7	104142814	missense	probably benign	0.31
R4509:Ubqln3	UTSW	7	104141444	missense	probably damaging	0.97
R5416:Ubqln3	UTSW	7	104141672	missense	probably benign	0.34
R5617:Ubqln3	UTSW	7	104142433	missense	probably damaging	0.99
R5648:Ubqln3	UTSW	7	104140910	missense	probably damaging	0.99
R5722:Ubqln3	UTSW	7	104141467	missense	probably benign	0.00
R5723:Ubqln3	UTSW	7	104141467	missense	probably benign	0.00
R5724:Ubqln3	UTSW	7	104141467	missense	probably benign	0.00
R5819:Ubqln3	UTSW	7	104141467	missense	probably benign	0.00
R5820:Ubqln3	UTSW	7	104141467	missense	probably benign	0.00
R5966:Ubqln3	UTSW	7	104141699	missense	probably benign	0.03
R6260:Ubqln3	UTSW	7	104142317	nonsense	probably null
R6272:Ubqln3	UTSW	7	104142178	missense	probably damaging	1.00
R6542:Ubqln3	UTSW	7	104141617	missense	probably benign	0.00
R6936:Ubqln3	UTSW	7	104142310	missense	probably damaging	1.00
R7023:Ubqln3	UTSW	7	104141423	missense	probably damaging	1.00
R7025:Ubqln3	UTSW	7	104141275	missense	probably benign	0.01
R7079:Ubqln3	UTSW	7	104141371	missense	probably benign	0.12
R7733:Ubqln3	UTSW	7	104141076	missense	probably damaging	0.98
R7764:Ubqln3	UTSW	7	104141236	missense	possibly damaging	0.52
R7919:Ubqln3	UTSW	7	104141192	missense	probably benign	0.03
R7961:Ubqln3	UTSW	7	104142590	missense	probably benign	0.00
R8009:Ubqln3	UTSW	7	104142590	missense	probably benign	0.00
R9619:Ubqln3	UTSW	7	104141846	missense	probably benign	0.05
R9652:Ubqln3	UTSW	7	104142755	missense	probably damaging	1.00
RF054:Ubqln3	UTSW	7	104141178	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCAATCTCAGGGTTCTGCTG -3'
(R):5'- CATTGGCACAGTGTGGAGTG -3'

Sequencing Primer
(F):5'- TTGTCAAGAACCAACTGGCG -3'
(R):5'- TGCGAGATGGCCTCACAGTC -3'

Posted On

2015-09-25