Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02160:Ubqln1'

282437

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubqln1

Ensembl Gene

ENSMUSG00000005312

Gene Name

ubiquilin 1

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.758) question?

Stock #

IGL02160

Quality Score

Status

Chromosome

Chromosomal Location

58323970-58363467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58339951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 261 (N261K)

Ref Sequence

ENSEMBL: ENSMUSP00000075782 (fasta)

Gene Model

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

AlphaFold

Q8R317

Predicted Effect

probably damaging
Transcript: ENSMUST00000058735
AA Change: N261K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000050191
Gene: ENSMUSG00000005312
AA Change: N261K

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: N261K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075782
Gene: ENSMUSG00000005312
AA Change: N261K

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

noncoding transcript
Transcript: ENSMUST00000224851

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 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	G	9: 53,503,287 (GRCm39)	V184A	probably benign	Het
Adam19	G	A	11: 46,030,522 (GRCm39)	C750Y	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cabp2	T	A	19: 4,134,868 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,731,015 (GRCm39)	M94T	possibly damaging	Het
Ccdc107	A	G	4: 43,495,736 (GRCm39)	D213G	probably damaging	Het
Cdh23	T	C	10: 60,433,544 (GRCm39)		probably benign	Het
Cfap251	A	T	5: 123,394,081 (GRCm39)	E323D	unknown	Het
Cfhr2	T	A	1: 139,738,664 (GRCm39)	D299V	probably benign	Het
Clcn7	T	C	17: 25,368,004 (GRCm39)		probably benign	Het
Clspn	G	A	4: 126,475,303 (GRCm39)	E1019K	probably benign	Het
Ctnna3	A	G	10: 64,086,477 (GRCm39)	T350A	probably benign	Het
Dmbt1	G	A	7: 130,684,418 (GRCm39)	G638E	probably damaging	Het
Ext2	A	T	2: 93,643,929 (GRCm39)	D117E	probably benign	Het
Fem1al	A	T	11: 29,773,593 (GRCm39)	Y621*	probably null	Het
Ffar4	T	A	19: 38,085,903 (GRCm39)	V110D	possibly damaging	Het
Foxred2	G	T	15: 77,839,850 (GRCm39)	Q147K	probably benign	Het
Heatr9	T	C	11: 83,409,651 (GRCm39)	D107G	probably benign	Het
Hmgxb3	G	A	18: 61,304,308 (GRCm39)	A94V	probably damaging	Het
Htr5b	A	T	1: 121,455,774 (GRCm39)	S49T	possibly damaging	Het
Il1rl1	A	T	1: 40,500,997 (GRCm39)	M458L	probably benign	Het
Il23r	A	T	6: 67,400,562 (GRCm39)	N589K	probably benign	Het
Kbtbd11	G	A	8: 15,078,801 (GRCm39)	V467M	probably damaging	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Kif27	T	A	13: 58,473,812 (GRCm39)	E728D	probably damaging	Het
Lum	T	C	10: 97,404,443 (GRCm39)	S113P	probably damaging	Het
Mkln1	A	G	6: 31,469,726 (GRCm39)		probably benign	Het
Mmp17	A	G	5: 129,672,633 (GRCm39)	D195G	possibly damaging	Het
Naa38	T	A	11: 69,287,194 (GRCm39)		probably benign	Het
Naalad2	G	A	9: 18,291,233 (GRCm39)	A191V	probably damaging	Het
Naip6	A	T	13: 100,435,933 (GRCm39)	H863Q	probably benign	Het
Ncoa6	A	G	2: 155,263,003 (GRCm39)	V477A	possibly damaging	Het
Nipal3	G	T	4: 135,201,728 (GRCm39)	Y153*	probably null	Het
Or10s1	A	T	9: 39,986,482 (GRCm39)	N297I	probably damaging	Het
Or13d1	A	G	4: 52,971,194 (GRCm39)	D191G	probably damaging	Het
Or4c12	G	T	2: 89,774,149 (GRCm39)	H103Q	probably damaging	Het
Or4g16	G	A	2: 111,137,143 (GRCm39)	V198I	probably benign	Het
Or9s23	T	A	1: 92,501,079 (GRCm39)	L62Q	probably damaging	Het
Pik3c2a	G	A	7: 115,987,299 (GRCm39)	P541S	probably damaging	Het
Ppargc1b	A	T	18: 61,443,506 (GRCm39)	D552E	probably damaging	Het
Ppfia3	C	A	7: 45,009,475 (GRCm39)		probably benign	Het
Prcp	G	A	7: 92,566,969 (GRCm39)	S227N	probably benign	Het
Ptprq	T	A	10: 107,489,426 (GRCm39)	T900S	probably benign	Het
Ralgapa2	G	A	2: 146,190,360 (GRCm39)		probably benign	Het
Rcsd1	A	G	1: 165,485,148 (GRCm39)	S102P	probably damaging	Het
Rfwd3	T	A	8: 111,999,707 (GRCm39)	N757I	possibly damaging	Het
Rnf217	A	T	10: 31,381,767 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,560,460 (GRCm39)	D1230G	probably damaging	Het
Sdc3	T	C	4: 130,545,886 (GRCm39)		probably benign	Het
Slc27a4	G	T	2: 29,695,974 (GRCm39)	D170Y	probably benign	Het
Tcof1	A	G	18: 60,981,815 (GRCm39)		probably benign	Het
Ticam1	T	A	17: 56,577,560 (GRCm39)	I512F	possibly damaging	Het
Ticrr	T	C	7: 79,343,767 (GRCm39)	C1211R	probably benign	Het
Tlr2	A	T	3: 83,744,678 (GRCm39)	N468K	possibly damaging	Het
Tmod4	T	C	3: 95,036,424 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,933,719 (GRCm39)	S2380P	probably benign	Het
Top6bl	T	C	19: 4,713,612 (GRCm39)	D276G	probably damaging	Het
Tox	A	G	4: 6,711,537 (GRCm39)	V309A	probably damaging	Het
Tpgs2	A	G	18: 25,273,637 (GRCm39)	F175L	possibly damaging	Het
Trim43b	A	G	9: 88,973,683 (GRCm39)	S17P	probably benign	Het
Ttc21a	G	T	9: 119,785,989 (GRCm39)	L662F	probably damaging	Het
Umodl1	T	C	17: 31,205,091 (GRCm39)	V562A	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vars1	T	A	17: 35,220,478 (GRCm39)	I20N	probably damaging	Het
Vcan	T	C	13: 89,832,612 (GRCm39)	N3092D	probably damaging	Het
Zc3h6	G	T	2: 128,839,605 (GRCm39)	E139D	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
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
R9256:Ubqln1	UTSW	13	58,325,721 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16