Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00158:Ubqlnl'

1459

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubqlnl

Ensembl Gene

ENSMUSG00000051437

Gene Name

ubiquilin-like

Synonyms

LOC244179, 4922504M18Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

IGL00158

Quality Score

Status

Chromosome

Chromosomal Location

104148259-104150556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104149165 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 375 (E375G)

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: E375G

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

SMART Domains

Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: E375G

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

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	T	C	11: 76,003,366	S190P	probably benign	Het
Abhd3	T	A	18: 10,647,869	D300V	possibly damaging	Het
Agap1	A	G	1: 89,663,796		probably benign	Het
Best3	A	G	10: 117,004,541		probably benign	Het
Cfap43	T	G	19: 47,830,475	I125L	probably benign	Het
Cntn1	A	G	15: 92,250,877	E335G	possibly damaging	Het
Csmd3	A	T	15: 48,287,495	S396T	possibly damaging	Het
Cxxc5	T	G	18: 35,860,692	*318G	probably null	Het
Dpep3	T	C	8: 105,979,147	T49A	probably benign	Het
Elf1	T	A	14: 79,580,349	M436K	possibly damaging	Het
Ephx2	T	G	14: 66,092,837	I310L	probably benign	Het
Fancm	A	G	12: 65,075,736	T11A	possibly damaging	Het
Ganab	G	T	19: 8,902,595	A73S	probably benign	Het
Glp1r	T	G	17: 30,901,917	L14R	possibly damaging	Het
Kif14	G	A	1: 136,469,018	S354N	probably benign	Het
Krtap9-1	C	T	11: 99,873,854	P139S	unknown	Het
L2hgdh	T	C	12: 69,701,434	D306G	possibly damaging	Het
Lrriq4	A	G	3: 30,650,955		probably null	Het
Mbd3	T	G	10: 80,393,883		probably benign	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mug1	T	C	6: 121,865,809	S585P	probably damaging	Het
Nat8f4	C	A	6: 85,900,987	A185S	probably benign	Het
Nlrc5	C	T	8: 94,502,211		probably benign	Het
Olfr874	T	A	9: 37,746,389	I85N	possibly damaging	Het
Olfr937	T	A	9: 39,059,863	M268L	probably benign	Het
Peg3	T	A	7: 6,710,274	I650F	probably benign	Het
Prom1	A	T	5: 44,055,937	N142K	probably damaging	Het
Qser1	T	A	2: 104,766,056	D1537V	probably damaging	Het
Rbm44	T	A	1: 91,157,109	D684E	probably benign	Het
Rnf19a	A	C	15: 36,265,802	S50A	probably damaging	Het
Rnf31	A	G	14: 55,592,319		probably null	Het
Rspry1	A	G	8: 94,622,986	M1V	probably null	Het
Rspry1	A	T	8: 94,622,980		probably benign	Het
Sap130	C	A	18: 31,698,766	P769T	probably benign	Het
Slc22a16	T	A	10: 40,595,282	M483K	probably damaging	Het
Slc27a1	T	C	8: 71,584,772		probably null	Het
Slc35a5	A	T	16: 45,152,608	C65*	probably null	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Uggt2	G	A	14: 119,049,276	T692I	possibly damaging	Het
Vmn1r211	A	T	13: 22,852,102	C132S	probably benign	Het
Vmn2r61	A	T	7: 42,300,751	N865I	possibly damaging	Het
Vmn2r73	A	T	7: 85,857,587	M839K	probably benign	Het
Xrn2	T	A	2: 147,036,750	S455R	probably benign	Het
Zan	T	A	5: 137,454,257	T1521S	unknown	Het
Zfp326	A	G	5: 105,907,045	M361V	possibly damaging	Het
Zfp472	A	G	17: 32,977,524	Y191C	possibly damaging	Het

Other mutations in Ubqlnl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R3914:Ubqlnl	UTSW	7	104149606	missense	probably benign
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
Z1088:Ubqlnl	UTSW	7	104149993	missense	probably damaging	1.00

Posted On

2011-07-12