Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01972:Ubqlnl'

181655

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubqlnl

Ensembl Gene

ENSMUSG00000051437

Gene Name

ubiquilin-like

Synonyms

4922504M18Rik, LOC244179

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL01972

Quality Score

Status

Chromosome

Chromosomal Location

103797466-103799763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103798904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 198 (Q198K)

Ref Sequence

ENSEMBL: ENSMUSP00000056365 (fasta)

Gene Model

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

AlphaFold

Q14DL0

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: Q198K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: Q198K

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahr	T	G	12: 35,554,448 (GRCm39)	D557A	possibly damaging	Het
Akap11	T	C	14: 78,745,297 (GRCm39)	Q1697R	probably damaging	Het
Alpi	T	A	1: 87,027,431 (GRCm39)	T312S	probably damaging	Het
Cacna1b	C	A	2: 24,525,107 (GRCm39)		probably null	Het
Car5a	C	T	8: 122,653,821 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,450,883 (GRCm39)	T841A	possibly damaging	Het
Eml6	A	T	11: 29,788,451 (GRCm39)	F545I	possibly damaging	Het
Fam114a2	G	A	11: 57,400,220 (GRCm39)	T156I	probably damaging	Het
Fbxl21	C	T	13: 56,684,672 (GRCm39)	R259*	probably null	Het
Fhip1b	T	C	7: 105,039,352 (GRCm39)	N5S	probably damaging	Het
Gm5117	C	T	8: 32,227,787 (GRCm39)		noncoding transcript	Het
Hc	T	C	2: 34,873,784 (GRCm39)	Y1650C	probably damaging	Het
Med12l	C	A	3: 59,169,314 (GRCm39)	T1568K	probably damaging	Het
Mtrex	T	C	13: 113,017,595 (GRCm39)	K853E	probably damaging	Het
Or2ag2b	A	G	7: 106,417,739 (GRCm39)	I150V	probably benign	Het
Or5g27	T	C	2: 85,410,117 (GRCm39)	F178S	probably damaging	Het
Or6n1	G	T	1: 173,916,987 (GRCm39)	C127F	probably damaging	Het
Orm3	A	G	4: 63,277,563 (GRCm39)	S184G	probably benign	Het
Padi1	A	G	4: 140,546,170 (GRCm39)		probably benign	Het
Rnf133	T	C	6: 23,648,988 (GRCm39)	T357A	probably benign	Het
Tmem17	A	G	11: 22,467,265 (GRCm39)	S60G	probably benign	Het
Vmn1r69	A	T	7: 10,314,586 (GRCm39)	Y48*	probably null	Het
Zfp658	G	A	7: 43,222,134 (GRCm39)	W136*	probably null	Het

Other mutations in Ubqlnl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Ubqlnl	APN	7	103,798,372 (GRCm39)	missense	probably benign
IGL01592:Ubqlnl	APN	7	103,799,496 (GRCm39)	unclassified	probably benign
IGL02266:Ubqlnl	APN	7	103,798,754 (GRCm39)	nonsense	probably null
IGL02447:Ubqlnl	APN	7	103,797,856 (GRCm39)	missense	probably damaging	1.00
IGL03232:Ubqlnl	APN	7	103,797,836 (GRCm39)	missense	possibly damaging	0.71
FR4737:Ubqlnl	UTSW	7	103,799,042 (GRCm39)	unclassified	probably benign
R0066:Ubqlnl	UTSW	7	103,798,145 (GRCm39)	missense	probably damaging	0.98
R0066:Ubqlnl	UTSW	7	103,798,145 (GRCm39)	missense	probably damaging	0.98
R0077:Ubqlnl	UTSW	7	103,799,254 (GRCm39)	missense	probably damaging	1.00
R0109:Ubqlnl	UTSW	7	103,799,399 (GRCm39)	missense	probably damaging	1.00
R0109:Ubqlnl	UTSW	7	103,799,399 (GRCm39)	missense	probably damaging	1.00
R0517:Ubqlnl	UTSW	7	103,797,845 (GRCm39)	missense	probably damaging	1.00
R1129:Ubqlnl	UTSW	7	103,798,857 (GRCm39)	missense	probably damaging	0.98
R1885:Ubqlnl	UTSW	7	103,799,272 (GRCm39)	missense	possibly damaging	0.88
R1987:Ubqlnl	UTSW	7	103,797,692 (GRCm39)	missense	probably benign
R2151:Ubqlnl	UTSW	7	103,797,890 (GRCm39)	missense	probably benign	0.00
R2152:Ubqlnl	UTSW	7	103,797,890 (GRCm39)	missense	probably benign	0.00
R2153:Ubqlnl	UTSW	7	103,797,890 (GRCm39)	missense	probably benign	0.00
R3712:Ubqlnl	UTSW	7	103,798,345 (GRCm39)	missense	probably benign	0.03
R3914:Ubqlnl	UTSW	7	103,798,813 (GRCm39)	missense	probably benign
R4367:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4404:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4405:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4406:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4407:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4449:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4458:Ubqlnl	UTSW	7	103,798,396 (GRCm39)	missense	probably benign	0.01
R4508:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4516:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4517:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4518:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4522:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4523:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4524:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4529:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4531:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4738:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4739:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4740:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R5339:Ubqlnl	UTSW	7	103,798,972 (GRCm39)	missense	probably benign	0.00
R5357:Ubqlnl	UTSW	7	103,798,138 (GRCm39)	missense	probably damaging	1.00
R5386:Ubqlnl	UTSW	7	103,798,424 (GRCm39)	missense	probably benign	0.01
R5542:Ubqlnl	UTSW	7	103,798,904 (GRCm39)	nonsense	probably null
R5588:Ubqlnl	UTSW	7	103,798,339 (GRCm39)	missense	probably damaging	1.00
R6058:Ubqlnl	UTSW	7	103,797,959 (GRCm39)	missense	probably benign
R6084:Ubqlnl	UTSW	7	103,797,905 (GRCm39)	missense	probably benign	0.01
R6207:Ubqlnl	UTSW	7	103,797,915 (GRCm39)	missense	possibly damaging	0.73
R6794:Ubqlnl	UTSW	7	103,797,992 (GRCm39)	missense	probably benign	0.34
R7500:Ubqlnl	UTSW	7	103,798,048 (GRCm39)	missense	probably damaging	1.00
R7575:Ubqlnl	UTSW	7	103,797,697 (GRCm39)	missense	probably damaging	1.00
R8491:Ubqlnl	UTSW	7	103,798,582 (GRCm39)	missense	probably benign	0.22
R8757:Ubqlnl	UTSW	7	103,799,206 (GRCm39)	missense	probably damaging	1.00
R8759:Ubqlnl	UTSW	7	103,799,206 (GRCm39)	missense	probably damaging	1.00
R9324:Ubqlnl	UTSW	7	103,798,962 (GRCm39)	missense	possibly damaging	0.74
R9366:Ubqlnl	UTSW	7	103,798,592 (GRCm39)	missense	possibly damaging	0.75
R9651:Ubqlnl	UTSW	7	103,799,122 (GRCm39)	missense	possibly damaging	0.46
Z1088:Ubqlnl	UTSW	7	103,799,200 (GRCm39)	missense	probably damaging	1.00
Z1177:Ubqlnl	UTSW	7	103,797,835 (GRCm39)	missense	probably damaging	0.96

Posted On

2014-05-07