Mutagenetix > Incidental Mutations

Incidental Mutation 'R3914:Ubqlnl'

309560

Institutional Source

Beutler Lab

Gene Symbol

Ubqlnl

Ensembl Gene

ENSMUSG00000051437

Gene Name

ubiquilin-like

Synonyms

LOC244179, 4922504M18Rik

MMRRC Submission

040912-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R3914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104148259-104150556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104149606 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 228 (V228A)

Ref Sequence

ENSEMBL: ENSMUSP00000056365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051137] [ENSMUST00000059121] [ENSMUST00000154555]

PDB Structure

Solution Structure of RSGI RUH-056, a UBA domain from mouse cDNA [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000051137

SMART Domains

Protein: ENSMUSP00000052174
Gene: ENSMUSG00000044265

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
coiled coil region	47	85	N/A	INTRINSIC
coiled coil region	157	198	N/A	INTRINSIC
OLF	211	468	3.13e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000059121
AA Change: V228A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: V228A

Domain	Start	End	E-Value	Type
UBQ	31	101	5.13e-16	SMART
Blast:STI1	199	237	8e-11	BLAST
low complexity region	339	350	N/A	INTRINSIC
low complexity region	402	419	N/A	INTRINSIC
PDB:2DNA\|A	561	610	3e-26	PDB
Blast:UBA	568	604	1e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000154555

SMART Domains

Protein: ENSMUSP00000117893
Gene: ENSMUSG00000044265

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
coiled coil region	47	123	N/A	INTRINSIC
OLF	136	304	3.65e-10	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (36/36)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal in terms of growth and behavior. Adult males are fertile and show no apparent defects in spermatogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI481877	T	A	4: 59,094,201	R174S	possibly damaging	Het
Atp8b2	A	T	3: 89,954,448	I266N	probably damaging	Het
AU041133	G	A	10: 82,151,815	R434Q	probably damaging	Het
Ccdc174	G	T	6: 91,899,357	A392S	possibly damaging	Het
Cdh18	T	C	15: 23,410,685	Y419H	probably damaging	Het
Col20a1	A	G	2: 180,998,492	K509R	probably benign	Het
Csmd2	A	T	4: 128,321,324	D513V	probably benign	Het
D230025D16Rik	A	G	8: 105,239,983	N121D	probably benign	Het
Disp1	A	G	1: 183,089,102	F585L	probably benign	Het
Entpd7	G	A	19: 43,691,158	R50Q	probably benign	Het
Exoc1	G	A	5: 76,543,561	S244N	possibly damaging	Het
Fam234b	A	G	6: 135,225,683	D345G	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gprc6a	T	A	10: 51,628,275	M158L	probably benign	Het
Hdc	T	C	2: 126,603,006	T255A	probably damaging	Het
Hps5	T	C	7: 46,783,526	T257A	probably damaging	Het
Ice1	A	G	13: 70,606,084	C628R	probably benign	Het
Igkv2-137	A	T	6: 67,555,984	R44W	probably damaging	Het
Islr2	A	T	9: 58,198,383	Y531*	probably null	Het
Mast4	G	A	13: 102,739,321	R1112*	probably null	Het
Mrc2	T	C	11: 105,347,232		probably benign	Het
Myo19	G	A	11: 84,894,603	R224H	probably damaging	Het
Nupl1	A	G	14: 60,232,147	M375T	possibly damaging	Het
Phldb2	T	C	16: 45,757,163	E1133G	probably damaging	Het
Rabl6	T	C	2: 25,588,706	T238A	possibly damaging	Het
Ranbp17	G	A	11: 33,479,189	A352V	probably benign	Het
Riok3	A	G	18: 12,148,822	I283V	probably benign	Het
Rrm1	A	G	7: 102,457,174	Y300C	probably damaging	Het
Sipa1l3	T	C	7: 29,400,085	D253G	probably benign	Het
Slc22a8	T	A	19: 8,608,186	I305N	probably damaging	Het
Slc26a3	A	T	12: 31,453,906	E303D	probably benign	Het
Slc32a1	C	T	2: 158,611,232		probably benign	Het
Tarsl2	C	A	7: 65,683,808	Q585K	probably benign	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Wnt7b	T	A	15: 85,537,858	D201V	possibly damaging	Het
Xpot	A	T	10: 121,604,538	I596N	possibly damaging	Het

Other mutations in Ubqlnl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Ubqlnl	APN	7	104149165	missense	probably benign
IGL01592:Ubqlnl	APN	7	104150289	unclassified	probably benign
IGL01972:Ubqlnl	APN	7	104149697	missense	probably benign	0.00
IGL02266:Ubqlnl	APN	7	104149547	nonsense	probably null
IGL02447:Ubqlnl	APN	7	104148649	missense	probably damaging	1.00
IGL03232:Ubqlnl	APN	7	104148629	missense	possibly damaging	0.71
FR4737:Ubqlnl	UTSW	7	104149835	unclassified	probably benign
R0066:Ubqlnl	UTSW	7	104148938	missense	probably damaging	0.98
R0066:Ubqlnl	UTSW	7	104148938	missense	probably damaging	0.98
R0077:Ubqlnl	UTSW	7	104150047	missense	probably damaging	1.00
R0109:Ubqlnl	UTSW	7	104150192	missense	probably damaging	1.00
R0109:Ubqlnl	UTSW	7	104150192	missense	probably damaging	1.00
R0517:Ubqlnl	UTSW	7	104148638	missense	probably damaging	1.00
R1129:Ubqlnl	UTSW	7	104149650	missense	probably damaging	0.98
R1885:Ubqlnl	UTSW	7	104150065	missense	possibly damaging	0.88
R1987:Ubqlnl	UTSW	7	104148485	missense	probably benign
R2151:Ubqlnl	UTSW	7	104148683	missense	probably benign	0.00
R2152:Ubqlnl	UTSW	7	104148683	missense	probably benign	0.00
R2153:Ubqlnl	UTSW	7	104148683	missense	probably benign	0.00
R3712:Ubqlnl	UTSW	7	104149138	missense	probably benign	0.03
R4367:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4404:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4405:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4406:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4407:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4449:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4458:Ubqlnl	UTSW	7	104149189	missense	probably benign	0.01
R4508:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4516:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4517:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4518:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4522:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4523:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4524:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4529:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4531:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4738:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4739:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R4740:Ubqlnl	UTSW	7	104149718	missense	probably benign	0.00
R5339:Ubqlnl	UTSW	7	104149765	missense	probably benign	0.00
R5357:Ubqlnl	UTSW	7	104148931	missense	probably damaging	1.00
R5386:Ubqlnl	UTSW	7	104149217	missense	probably benign	0.01
R5542:Ubqlnl	UTSW	7	104149697	nonsense	probably null
R5588:Ubqlnl	UTSW	7	104149132	missense	probably damaging	1.00
R6058:Ubqlnl	UTSW	7	104148752	missense	probably benign
R6084:Ubqlnl	UTSW	7	104148698	missense	probably benign	0.01
R6207:Ubqlnl	UTSW	7	104148708	missense	possibly damaging	0.73
R6794:Ubqlnl	UTSW	7	104148785	missense	probably benign	0.34
R7500:Ubqlnl	UTSW	7	104148841	missense	probably damaging	1.00
R7575:Ubqlnl	UTSW	7	104148490	missense	probably damaging	1.00
R8491:Ubqlnl	UTSW	7	104149375	missense	probably benign	0.22
Z1088:Ubqlnl	UTSW	7	104149993	missense	probably damaging	1.00
Z1177:Ubqlnl	UTSW	7	104148628	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGCCCTCCAAAAGATCAGG -3'
(R):5'- CCAAGGTGGGTACTGAAAGC -3'

Sequencing Primer
(F):5'- GGCACACCATTGAGCATATGATCG -3'
(R):5'- GTGGGTAGTCTAGAACATATTGCAC -3'

Posted On

2015-04-17