Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02565:Ubqln5'

298785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubqln5

Ensembl Gene

ENSMUSG00000055643

Gene Name

ubiquilin 5

Synonyms

4931431F19Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02565

Quality Score

Status

Chromosome

Chromosomal Location

104127912-104129826 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 104129072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 182 (Q182*)

Ref Sequence

ENSEMBL: ENSMUSP00000062054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053743] [ENSMUST00000138055]

AlphaFold

Q9D4I8

PDB Structure

Solution Structure of RSGI RUH-016, a UBA Domain from mouse cDNA [SOLUTION NMR]
Solution Structure of the N-terminal Ubiquitin-like Domain in the 4931431F19Rik Protein [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000053743
AA Change: Q182*

SMART Domains

Protein: ENSMUSP00000062054
Gene: ENSMUSG00000055643
AA Change: Q182*

Domain	Start	End	E-Value	Type
UBQ	24	94	7.97e-13	SMART
low complexity region	365	376	N/A	INTRINSIC
UBA	468	506	2.14e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 127,395,054	S205R	probably benign	Het
Adora3	A	G	3: 105,907,812	T293A	probably benign	Het
App	T	C	16: 85,025,420		probably null	Het
Asap1	A	G	15: 64,129,165		probably benign	Het
Brinp3	T	A	1: 146,902,032	V739E	probably damaging	Het
Bsn	A	G	9: 108,113,288	V1755A	probably damaging	Het
Clmp	A	C	9: 40,772,415	D147A	probably damaging	Het
Cntn5	A	T	9: 10,145,338	C122*	probably null	Het
Ctsb	T	G	14: 63,138,410	C198G	probably null	Het
Cyld	A	T	8: 88,741,291	R702S	probably damaging	Het
Cyp4v3	A	G	8: 45,320,637	V165A	possibly damaging	Het
Dpy19l4	C	A	4: 11,309,440	V59F	probably benign	Het
Eml1	A	T	12: 108,506,520	T196S	probably damaging	Het
Fam111a	T	A	19: 12,586,954	D22E	probably damaging	Het
Gigyf2	A	G	1: 87,442,136	H1150R	probably damaging	Het
Grk5	T	G	19: 61,069,371	F170V	probably damaging	Het
Heatr5a	A	C	12: 51,951,099	V339G	possibly damaging	Het
Hgd	T	A	16: 37,615,387	D153E	possibly damaging	Het
Igdcc3	T	A	9: 65,180,188	L336Q	probably damaging	Het
Jph2	T	C	2: 163,397,345	E61G	probably damaging	Het
Ktn1	A	T	14: 47,672,934		probably benign	Het
Lrch3	T	A	16: 33,005,714	D634E	probably benign	Het
March6	T	C	15: 31,490,566		probably benign	Het
Misp	T	A	10: 79,826,343	I198N	probably benign	Het
Mmp14	C	T	14: 54,440,557	P545L	probably benign	Het
Mon1b	G	T	8: 113,638,823	R261L	possibly damaging	Het
Muc5b	T	C	7: 141,857,867	S1517P	unknown	Het
Nae1	A	T	8: 104,511,209	N518K	probably damaging	Het
Pglyrp4	A	T	3: 90,735,487	D225V	probably benign	Het
Pgpep1	A	G	8: 70,652,469	I47T	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pitpnc1	G	A	11: 107,296,233	T88I	probably damaging	Het
Poldip2	T	C	11: 78,517,852	I181T	probably damaging	Het
Ppfia2	T	C	10: 106,863,386		probably null	Het
Rasal1	A	G	5: 120,676,780		probably benign	Het
Rbms1	A	G	2: 60,759,779	Y305H	probably benign	Het
Rnf123	A	C	9: 108,052,212		probably null	Het
Sec14l3	G	A	11: 4,076,237		probably benign	Het
Slc2a10	A	C	2: 165,515,080	D220A	probably damaging	Het
Slc38a8	T	C	8: 119,485,561	T348A	probably damaging	Het
Slc4a5	T	C	6: 83,299,505	V1104A	probably benign	Het
Snrpe	T	C	1: 133,608,966		probably benign	Het
Th	C	A	7: 142,899,910	V18F	probably damaging	Het
Ttc30b	A	G	2: 75,937,903	Y169H	probably benign	Het
Unc5c	T	C	3: 141,803,919	V646A	probably damaging	Het
Wasf1	A	G	10: 40,936,132	N306D	possibly damaging	Het

Other mutations in Ubqln5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Ubqln5	APN	7	104128427	missense	possibly damaging	0.83
IGL02127:Ubqln5	APN	7	104129482	missense	probably damaging	0.99
R1181:Ubqln5	UTSW	7	104128741	missense	probably damaging	0.99
R1962:Ubqln5	UTSW	7	104128888	missense	possibly damaging	0.83
R1962:Ubqln5	UTSW	7	104128927	missense	probably damaging	0.98
R1964:Ubqln5	UTSW	7	104128888	missense	possibly damaging	0.83
R1992:Ubqln5	UTSW	7	104129534	missense	probably damaging	1.00
R1998:Ubqln5	UTSW	7	104128741	missense	probably damaging	0.99
R3927:Ubqln5	UTSW	7	104128471	missense	probably damaging	1.00
R4831:Ubqln5	UTSW	7	104129622	intron	probably benign
R5699:Ubqln5	UTSW	7	104129425	missense	possibly damaging	0.78
R5840:Ubqln5	UTSW	7	104128954	missense	possibly damaging	0.83
R5858:Ubqln5	UTSW	7	104128811	missense	probably benign	0.17
R5907:Ubqln5	UTSW	7	104128574	missense	possibly damaging	0.55
R6477:Ubqln5	UTSW	7	104128258	missense	probably damaging	0.97
R6602:Ubqln5	UTSW	7	104129489	missense	probably benign	0.07
R6919:Ubqln5	UTSW	7	104129008	missense	probably benign	0.15
R6981:Ubqln5	UTSW	7	104128601	missense	probably benign	0.29
R8153:Ubqln5	UTSW	7	104128804	missense	possibly damaging	0.52
R8712:Ubqln5	UTSW	7	104129115	missense	probably benign	0.04
R8787:Ubqln5	UTSW	7	104129122	missense	probably benign	0.01
R9398:Ubqln5	UTSW	7	104128778	missense	probably benign	0.05
X0028:Ubqln5	UTSW	7	104129408	missense	probably damaging	1.00
Z1088:Ubqln5	UTSW	7	104128971	missense	possibly damaging	0.83
Z1176:Ubqln5	UTSW	7	104128918	missense	probably benign	0.33

Posted On

2015-04-16