Mutagenetix > Incidental Mutation

Incidental Mutation 'R9256:Ubqln1'

701892

Institutional Source

Beutler Lab

Gene Symbol

Ubqln1

Ensembl Gene

ENSMUSG00000005312

Gene Name

ubiquilin 1

Synonyms

XDRP1, 1110046H03Rik, 1810030E05Rik, Plic-1, D13Ertd372e, DA41, Dsk2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R9256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58323970-58363467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58325721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 573 (I573T)

Ref Sequence

ENSEMBL: ENSMUSP00000050191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058735] [ENSMUST00000076454]

AlphaFold

Q8R317

Predicted Effect

probably damaging
Transcript: ENSMUST00000058735
AA Change: I573T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050191
Gene: ENSMUSG00000005312
AA Change: I573T

Domain	Start	End	E-Value	Type
UBQ	28	98	7.78e-16	SMART
low complexity region	136	154	N/A	INTRINSIC
STI1	173	201	6e0	SMART
STI1	203	242	6.75e-10	SMART
low complexity region	316	356	N/A	INTRINSIC
STI1	381	428	2.62e-7	SMART
STI1	432	464	3.1e0	SMART
low complexity region	483	499	N/A	INTRINSIC
UBA	540	578	1.77e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000076454
AA Change: I545T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075782
Gene: ENSMUSG00000005312
AA Change: I545T

Domain	Start	End	E-Value	Type
UBQ	28	98	7.78e-16	SMART
low complexity region	136	154	N/A	INTRINSIC
STI1	173	201	6e0	SMART
STI1	203	242	6.75e-10	SMART
low complexity region	316	356	N/A	INTRINSIC
STI1	381	420	2.24e-6	SMART
low complexity region	455	471	N/A	INTRINSIC
UBA	512	550	1.77e-6	SMART

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an 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 thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null animals display impaired degradation of ubiquitinated proteins in the brain, increased ischemia/reperfusion-caused brain injury, and slower functional recovery after injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,945,930 (GRCm39)	Y21C	probably damaging	Het
Adamts7	A	T	9: 90,060,218 (GRCm39)	I290F	probably damaging	Het
Adcy5	G	A	16: 35,124,052 (GRCm39)	V1244I	probably damaging	Het
Adnp	A	T	2: 168,025,945 (GRCm39)	I450N	probably damaging	Het
AL732309.1	A	T	2: 25,136,211 (GRCm39)	M1K	probably null	Het
Alox15	C	T	11: 70,236,370 (GRCm39)	G510D	possibly damaging	Het
Arhgef16	C	A	4: 154,363,502 (GRCm39)	E685*	probably null	Het
Atp13a2	A	G	4: 140,730,038 (GRCm39)	E643G	probably damaging	Het
AW554918	C	A	18: 25,423,061 (GRCm39)	Q171K	probably damaging	Het
Bdkrb2	A	G	12: 105,558,352 (GRCm39)	T198A	probably benign	Het
C7	T	C	15: 5,023,645 (GRCm39)	E721G	probably damaging	Het
Cc2d2b	T	C	19: 40,797,848 (GRCm39)	Y823H	unknown	Het
Cd74	T	C	18: 60,944,366 (GRCm39)	V192A	probably benign	Het
Cdc42bpg	G	A	19: 6,361,067 (GRCm39)	A231T	probably damaging	Het
Cers6	G	A	2: 68,777,706 (GRCm39)		probably benign	Het
Copg2	T	C	6: 30,788,637 (GRCm39)	I555M	probably benign	Het
Cracd	T	G	5: 76,988,757 (GRCm39)	V36G	unknown	Het
Crnkl1	A	G	2: 145,770,216 (GRCm39)	V209A	possibly damaging	Het
Dock7	T	C	4: 98,971,272 (GRCm39)	T98A		Het
Enpp5	T	C	17: 44,396,414 (GRCm39)	I442T	probably benign	Het
Fbxw19	T	C	9: 109,310,641 (GRCm39)	Y427C	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Fyb1	T	G	15: 6,674,358 (GRCm39)	S665A	possibly damaging	Het
Igkv6-20	T	C	6: 70,313,417 (GRCm39)	Y16C	probably benign	Het
Ints10	A	G	8: 69,261,129 (GRCm39)	R370G	possibly damaging	Het
Iqub	A	T	6: 24,446,198 (GRCm39)	I742N	possibly damaging	Het
Kcnn3	T	C	3: 89,574,407 (GRCm39)	Y640H	probably damaging	Het
Lrp2	A	G	2: 69,341,303 (GRCm39)	V959A	probably benign	Het
Marcksl1	A	G	4: 129,408,816 (GRCm39)	S132G	probably benign	Het
Mfsd4b3-ps	T	A	10: 39,824,010 (GRCm39)	K83N	probably damaging	Het
Mib1	A	G	18: 10,760,862 (GRCm39)	E384G	possibly damaging	Het
Morn5	G	T	2: 35,939,553 (GRCm39)	G5W	probably damaging	Het
Mrpl46	A	G	7: 78,432,671 (GRCm39)	S36P	probably benign	Het
Mtif2	T	C	11: 29,490,777 (GRCm39)	F494L	probably benign	Het
Naalad2	T	C	9: 18,274,534 (GRCm39)	N336S	probably benign	Het
Nepro	A	G	16: 44,544,790 (GRCm39)	N22S	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Or10x4	C	T	1: 174,219,109 (GRCm39)	T158I	probably benign	Het
Or1e1f	A	T	11: 73,856,135 (GRCm39)	I234F	probably benign	Het
Or2d36	T	C	7: 106,747,387 (GRCm39)	I288T	probably damaging	Het
Or8c16	T	A	9: 38,130,498 (GRCm39)	Y123*	probably null	Het
Or9r7	A	G	10: 129,962,335 (GRCm39)	V197A	possibly damaging	Het
Pcnx1	A	T	12: 82,020,047 (GRCm39)	N724Y		Het
Pde8b	G	A	13: 95,164,204 (GRCm39)	R669C	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,290 (GRCm39)		probably null	Het
Pls1	A	G	9: 95,655,696 (GRCm39)	V352A	probably damaging	Het
Prb1b	T	C	6: 132,288,972 (GRCm39)	N284S	unknown	Het
Prtg	A	T	9: 72,758,977 (GRCm39)	I444F	probably damaging	Het
Ptprb	A	T	10: 116,219,776 (GRCm39)	H1998L	probably damaging	Het
Qrich2	A	T	11: 116,356,450 (GRCm39)	V133D	probably benign	Het
Rab35	C	A	5: 115,778,246 (GRCm39)	R71S	probably damaging	Het
Scgb2b12	A	G	7: 32,026,054 (GRCm39)	L46P	probably damaging	Het
Sdha	A	T	13: 74,475,483 (GRCm39)		probably benign	Het
Sdr39u1	C	A	14: 56,135,209 (GRCm39)	V245F	probably benign	Het
Sgo2a	T	A	1: 58,058,772 (GRCm39)	V1117E	possibly damaging	Het
Slc12a2	T	C	18: 58,074,867 (GRCm39)	S1154P	probably damaging	Het
Slc6a1	A	T	6: 114,287,554 (GRCm39)	Q441L	possibly damaging	Het
Smtnl2	A	T	11: 72,293,835 (GRCm39)		probably null	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem38b	A	T	4: 53,848,924 (GRCm39)	I110F	probably damaging	Het
Usp9y	T	C	Y: 1,356,235 (GRCm39)	I1155M	possibly damaging	Het
Vipr1	A	G	9: 121,490,118 (GRCm39)	I164V	probably benign	Het
Vps13b	T	G	15: 35,623,925 (GRCm39)	S1281A	possibly damaging	Het
Vps13d	A	G	4: 144,882,374 (GRCm39)	L1073P		Het
Wipi1	C	T	11: 109,473,952 (GRCm39)		probably null	Het
Zdhhc8	G	A	16: 18,042,686 (GRCm39)	P505S	probably damaging	Het
Zfp292	C	T	4: 34,839,899 (GRCm39)	V84I	probably benign	Het
Zfp712	T	C	13: 67,188,791 (GRCm39)	T579A	probably benign	Het
Zfp788	G	A	7: 41,299,638 (GRCm39)	R758Q	probably benign	Het

Other mutations in Ubqln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ubqln1	APN	13	58,325,806 (GRCm39)	nonsense	probably null
IGL01566:Ubqln1	APN	13	58,327,481 (GRCm39)	splice site	probably null
IGL02160:Ubqln1	APN	13	58,339,951 (GRCm39)	missense	probably damaging	1.00
IGL03171:Ubqln1	APN	13	58,328,672 (GRCm39)	missense	probably damaging	1.00
R0140:Ubqln1	UTSW	13	58,341,103 (GRCm39)	missense	probably damaging	1.00
R1676:Ubqln1	UTSW	13	58,327,205 (GRCm39)	missense	possibly damaging	0.67
R1712:Ubqln1	UTSW	13	58,339,895 (GRCm39)	missense	probably damaging	1.00
R4400:Ubqln1	UTSW	13	58,341,202 (GRCm39)	missense	probably damaging	1.00
R5194:Ubqln1	UTSW	13	58,346,847 (GRCm39)	missense	probably benign
R5419:Ubqln1	UTSW	13	58,330,997 (GRCm39)	missense	probably damaging	0.99
R5778:Ubqln1	UTSW	13	58,331,131 (GRCm39)	missense	probably benign	0.00
R6198:Ubqln1	UTSW	13	58,344,404 (GRCm39)	missense	probably benign
R7829:Ubqln1	UTSW	13	58,325,719 (GRCm39)	missense	probably damaging	1.00
R8479:Ubqln1	UTSW	13	58,339,653 (GRCm39)	missense	probably benign
R8523:Ubqln1	UTSW	13	58,339,569 (GRCm39)	missense	probably benign	0.00
R8834:Ubqln1	UTSW	13	58,331,058 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAACATTGATTCCCACTGTTCC -3'
(R):5'- CCTGGGTATAGTTTAGACCGGC -3'

Sequencing Primer
(F):5'- TGATTCCCACTGTTCCAAAAAG -3'
(R):5'- GGTATAGTTTAGACCGGCTCTCC -3'

Posted On

2022-03-25