Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02096:Ubxn2b'

281104

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubxn2b

Ensembl Gene

ENSMUSG00000028243

Gene Name

UBX domain protein 2B

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

IGL02096

Quality Score

Status

Chromosome

Chromosomal Location

6191098-6221688 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6214749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 261 (I261N)

Ref Sequence

ENSEMBL: ENSMUSP00000029907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029907]

AlphaFold

Q0KL01

Predicted Effect

probably damaging
Transcript: ENSMUST00000029907
AA Change: I261N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029907
Gene: ENSMUSG00000028243
AA Change: I261N

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
SEP	138	232	3.5e-39	SMART
UBX	251	330	1.05e-8	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	C	A	13: 63,061,089	A340E	probably benign	Het
Abca9	A	G	11: 110,102,533	L1584P	probably damaging	Het
Abca9	G	T	11: 110,165,980	H5N	probably benign	Het
Acox1	A	T	11: 116,178,198	I371N	probably damaging	Het
Bmp5	A	G	9: 75,898,551	N445S	probably damaging	Het
Cacna1b	G	T	2: 24,678,915	A999E	probably benign	Het
Cdc27	A	T	11: 104,528,568		probably benign	Het
D430042O09Rik	G	A	7: 125,814,821	C379Y	probably benign	Het
Dmxl2	T	C	9: 54,401,065	E2134G	possibly damaging	Het
Dnttip2	A	G	3: 122,284,413	N698S	possibly damaging	Het
Duox1	A	T	2: 122,344,174	K1271M	probably damaging	Het
Dync1h1	T	C	12: 110,632,820	Y1870H	possibly damaging	Het
Edem3	A	G	1: 151,804,719	T532A	probably benign	Het
Epx	A	T	11: 87,869,468	L440Q	probably damaging	Het
F11	A	G	8: 45,246,754	F432L	probably benign	Het
Fam185a	C	A	5: 21,425,343	P59Q	probably damaging	Het
Fsip2	A	G	2: 82,991,860	D5979G	possibly damaging	Het
Furin	A	G	7: 80,393,459	S335P	probably damaging	Het
Gm10130	T	C	2: 150,323,714	Y5H	probably damaging	Het
Gtf3c1	T	A	7: 125,659,112	Q1262L	probably damaging	Het
Hmmr	A	T	11: 40,707,429	V652E	probably benign	Het
Iapp	A	T	6: 142,303,473	N84I	probably benign	Het
Mmp17	C	T	5: 129,598,688	Q304*	probably null	Het
Mpl	T	C	4: 118,457,136	T55A	possibly damaging	Het
Mst1r	G	A	9: 107,917,279	R1219H	probably damaging	Het
Muc6	T	A	7: 141,639,850		probably benign	Het
Nalcn	C	T	14: 123,594,503	V120I	probably benign	Het
Nt5dc1	A	T	10: 34,399,810	C134*	probably null	Het
Obscn	A	C	11: 59,080,704	N2228K	probably damaging	Het
Olfr135	T	A	17: 38,209,183	*313R	probably null	Het
Osbpl10	T	C	9: 115,216,994	M566T	possibly damaging	Het
Pabpc1l	G	A	2: 164,044,347	V466I	probably benign	Het
Pdcd11	T	G	19: 47,106,421	V548G	probably benign	Het
Prss27	G	T	17: 24,044,977	K212N	possibly damaging	Het
Ranbp2	T	A	10: 58,461,967	S399T	probably damaging	Het
Rgs19	A	G	2: 181,689,283	S159P	probably damaging	Het
Sh2b1	A	G	7: 126,469,293	S449P	probably damaging	Het
Slc6a18	T	A	13: 73,672,751	Y238F	probably benign	Het
Stx11	T	C	10: 12,941,480	I167V	probably benign	Het
Sucnr1	A	G	3: 60,086,950	M300V	possibly damaging	Het
Synj2	A	G	17: 5,990,353	T235A	probably damaging	Het
Vmn2r43	G	A	7: 8,257,513		probably benign	Het
Vmn2r45	A	G	7: 8,481,444	M454T	probably damaging	Het
Vsig2	T	A	9: 37,539,955	S51T	probably damaging	Het
Wdr41	T	C	13: 95,017,456		probably benign	Het
Wdr6	A	C	9: 108,576,553	L44V	probably damaging	Het
Zfp592	T	C	7: 81,025,048	Y587H	probably damaging	Het
Zfp735	A	T	11: 73,711,428	K399N	probably benign	Het

Other mutations in Ubxn2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Ubxn2b	APN	4	6203767	splice site	probably null
IGL02272:Ubxn2b	APN	4	6216071	missense	probably damaging	1.00
R0081:Ubxn2b	UTSW	4	6203875	splice site	probably benign
R0482:Ubxn2b	UTSW	4	6196404	splice site	probably null
R1903:Ubxn2b	UTSW	4	6208889	missense	possibly damaging	0.82
R4206:Ubxn2b	UTSW	4	6204565	missense	probably damaging	0.99
R5071:Ubxn2b	UTSW	4	6214746	missense	probably damaging	1.00
R7622:Ubxn2b	UTSW	4	6214692	missense	probably damaging	0.98
R8034:Ubxn2b	UTSW	4	6191167	missense	probably benign	0.06
R8836:Ubxn2b	UTSW	4	6216061	missense	probably damaging	1.00
R9156:Ubxn2b	UTSW	4	6214646	missense	probably damaging	1.00
R9413:Ubxn2b	UTSW	4	6204607	missense	probably damaging	1.00

Posted On

2015-04-16