Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02272:Ubxn2b'

287205

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubxn2b

Ensembl Gene

ENSMUSG00000028243

Gene Name

UBX domain protein 2B

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

6191098-6221688 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6216071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 331 (K331N)

Ref Sequence

ENSEMBL: ENSMUSP00000029907 (fasta)

Gene Model

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

AlphaFold

Q0KL01

Predicted Effect

probably damaging
Transcript: ENSMUST00000029907
AA Change: K331N

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

SMART Domains

Protein: ENSMUSP00000029907
Gene: ENSMUSG00000028243
AA Change: K331N

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,450,021 (GRCm38)	C759*	probably null	Het
Adgrg6	T	A	10: 14,468,829 (GRCm38)	M127L	probably damaging	Het
AI314180	A	T	4: 58,811,731 (GRCm38)	N1439K	probably benign	Het
Anxa9	A	G	3: 95,305,894 (GRCm38)	V47A	probably benign	Het
Arhgef12	T	A	9: 43,001,452 (GRCm38)	D483V	probably damaging	Het
Arrdc3	C	A	13: 80,891,650 (GRCm38)		probably benign	Het
Ccdc169	A	G	3: 55,150,748 (GRCm38)	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,960,022 (GRCm38)	V731D	possibly damaging	Het
Cdh3	G	T	8: 106,547,836 (GRCm38)		probably null	Het
Cntnap1	G	A	11: 101,178,316 (GRCm38)	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,757,411 (GRCm38)	V852E	probably damaging	Het
Csmd1	A	T	8: 16,199,893 (GRCm38)	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,993,265 (GRCm38)		probably benign	Het
Dusp6	T	A	10: 99,266,019 (GRCm38)	V289D	probably damaging	Het
Epha6	C	T	16: 59,818,937 (GRCm38)	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,779,704 (GRCm38)	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,269,803 (GRCm38)	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,164,781 (GRCm38)	V152E	probably benign	Het
Hmces	A	G	6: 87,917,855 (GRCm38)		probably null	Het
Hsph1	A	G	5: 149,617,530 (GRCm38)	S852P	probably benign	Het
Kat6b	A	C	14: 21,626,778 (GRCm38)	K394Q	probably damaging	Het
Kdr	G	A	5: 75,961,840 (GRCm38)	T475I	probably benign	Het
Klhl25	A	G	7: 75,866,620 (GRCm38)	T425A	probably benign	Het
Klk1b8	T	A	7: 43,952,793 (GRCm38)	C50S	probably damaging	Het
Kri1	T	C	9: 21,276,168 (GRCm38)	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,305,769 (GRCm38)	S953P	probably benign	Het
Lpin1	A	G	12: 16,547,600 (GRCm38)	V681A	probably damaging	Het
Lpin3	A	G	2: 160,901,661 (GRCm38)	T508A	probably benign	Het
Moxd1	T	A	10: 24,282,700 (GRCm38)	Y417*	probably null	Het
Mthfd1l	T	G	10: 4,041,812 (GRCm38)	I588S	probably damaging	Het
Myo5c	C	A	9: 75,266,160 (GRCm38)	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,884,600 (GRCm38)		probably benign	Het
Nme8	T	C	13: 19,658,826 (GRCm38)	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,567,979 (GRCm38)	N249T	probably damaging	Het
Pex11g	A	G	8: 3,465,898 (GRCm38)	V45A	probably benign	Het
Pkhd1	C	A	1: 20,209,260 (GRCm38)	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,993,628 (GRCm38)	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,236,489 (GRCm38)	V353A	probably damaging	Het
Prss16	T	A	13: 22,003,035 (GRCm38)	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,721,208 (GRCm38)	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,716,566 (GRCm38)	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,598,782 (GRCm38)	L598F	probably damaging	Het
Sardh	T	G	2: 27,224,991 (GRCm38)	D550A	probably benign	Het
Serpinc1	T	G	1: 160,999,992 (GRCm38)	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,121,167 (GRCm38)	D650V	probably benign	Het
Sipa1l2	T	A	8: 125,492,011 (GRCm38)	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,583,568 (GRCm38)	T294A	probably benign	Het
Srrm2	T	C	17: 23,815,782 (GRCm38)		probably benign	Het
Steap2	T	A	5: 5,677,612 (GRCm38)	N241I	probably benign	Het
Tcaf3	T	C	6: 42,596,660 (GRCm38)	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,978,463 (GRCm38)	Q322L	probably damaging	Het
Tnni2	C	A	7: 142,443,429 (GRCm38)	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,735,028 (GRCm38)	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,976,153 (GRCm38)	S99R	probably benign	Het
Usp50	G	A	2: 126,769,944 (GRCm38)	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,385,999 (GRCm38)	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,386,004 (GRCm38)	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,786,884 (GRCm38)	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,750,693 (GRCm38)	R383G	probably benign	Het

Other mutations in Ubxn2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Ubxn2b	APN	4	6,203,767 (GRCm38)	splice site	probably null
IGL02096:Ubxn2b	APN	4	6,214,749 (GRCm38)	missense	probably damaging	1.00
R0081:Ubxn2b	UTSW	4	6,203,875 (GRCm38)	splice site	probably benign
R0482:Ubxn2b	UTSW	4	6,196,404 (GRCm38)	splice site	probably null
R1903:Ubxn2b	UTSW	4	6,208,889 (GRCm38)	missense	possibly damaging	0.82
R4206:Ubxn2b	UTSW	4	6,204,565 (GRCm38)	missense	probably damaging	0.99
R5071:Ubxn2b	UTSW	4	6,214,746 (GRCm38)	missense	probably damaging	1.00
R7622:Ubxn2b	UTSW	4	6,214,692 (GRCm38)	missense	probably damaging	0.98
R8034:Ubxn2b	UTSW	4	6,191,167 (GRCm38)	missense	probably benign	0.06
R8836:Ubxn2b	UTSW	4	6,216,061 (GRCm38)	missense	probably damaging	1.00
R9156:Ubxn2b	UTSW	4	6,214,646 (GRCm38)	missense	probably damaging	1.00
R9413:Ubxn2b	UTSW	4	6,204,607 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16