Mutagenetix > Incidental Mutation

Incidental Mutation 'R8034:Ubxn2b'

618122

Institutional Source

Beutler Lab

Gene Symbol

Ubxn2b

Ensembl Gene

ENSMUSG00000028243

Gene Name

UBX domain protein 2B

Synonyms

6430407D20Rik, 3110003A22Rik

MMRRC Submission

067471-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R8034 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

6191105-6219788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6191167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 13 (E13G)

Ref Sequence

ENSEMBL: ENSMUSP00000029907 (fasta)

Gene Model

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

AlphaFold

Q0KL01

Predicted Effect

probably benign
Transcript: ENSMUST00000029907
AA Change: E13G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029907
Gene: ENSMUSG00000028243
AA Change: E13G

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,043,980 (GRCm39)	T680A	probably damaging	Het
Asb3	C	A	11: 31,031,554 (GRCm39)	Y391*	probably null	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc80	A	G	16: 44,943,238 (GRCm39)	I783V	probably damaging	Het
Ccnf	A	G	17: 24,450,805 (GRCm39)	V391A	probably damaging	Het
Cd5l	C	A	3: 87,273,271 (GRCm39)	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,343,769 (GRCm39)	M96K	probably benign	Het
Cspg4b	A	T	13: 113,479,045 (GRCm39)	I1530F		Het
Dennd4a	T	C	9: 64,795,850 (GRCm39)	S725P	probably benign	Het
Dnah6	T	C	6: 73,106,208 (GRCm39)	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,449,281 (GRCm39)	F41L	probably benign	Het
Eif3e	A	T	15: 43,135,703 (GRCm39)	M112K	probably benign	Het
Faim	T	C	9: 98,874,786 (GRCm39)	V111A	possibly damaging	Het
Fat1	A	G	8: 45,404,728 (GRCm39)	E493G	probably benign	Het
Fsip2	A	G	2: 82,819,699 (GRCm39)	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,545,684 (GRCm39)	M1T	probably null	Het
Ggcx	T	C	6: 72,405,587 (GRCm39)	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,913,894 (GRCm39)	T259S	probably benign	Het
Gria2	T	G	3: 80,709,006 (GRCm39)	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,781,338 (GRCm39)	I47F	probably damaging	Het
Heatr6	A	G	11: 83,644,735 (GRCm39)	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,345,180 (GRCm39)		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,345,183 (GRCm39)		probably null	Het
Lcn6	T	A	2: 25,566,883 (GRCm39)	L19*	probably null	Het
Lhcgr	T	C	17: 89,049,784 (GRCm39)	T581A	probably damaging	Het
Map4k1	T	C	7: 28,687,573 (GRCm39)	I203T	probably damaging	Het
Mctp1	G	C	13: 77,039,670 (GRCm39)	L783F	probably damaging	Het
Mlf1	A	T	3: 67,291,921 (GRCm39)	M29L	probably damaging	Het
Npas3	T	A	12: 53,687,312 (GRCm39)	I159N	probably damaging	Het
Nup98	T	C	7: 101,794,930 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,237,081 (GRCm39)	V114A	probably benign	Het
Or4m1	T	C	14: 50,558,023 (GRCm39)	K90E	probably damaging	Het
Or51h5	A	T	7: 102,577,773 (GRCm39)	K313*	probably null	Het
Or5b110-ps1	A	G	19: 13,260,215 (GRCm39)	F69S	probably damaging	Het
Or7d11	A	G	9: 19,966,301 (GRCm39)	F35L	probably benign	Het
Or8b41	T	C	9: 38,054,973 (GRCm39)	Y176H	probably damaging	Het
Otud3	T	C	4: 138,623,111 (GRCm39)	S377G	probably benign	Het
Pclo	T	A	5: 14,571,214 (GRCm39)	S200T	probably damaging	Het
Pex6	G	C	17: 47,033,325 (GRCm39)	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,451,662 (GRCm39)	H2211L	possibly damaging	Het
Sec13	T	C	6: 113,712,050 (GRCm39)	K95R	probably benign	Het
Sema3c	T	C	5: 17,932,480 (GRCm39)	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,987 (GRCm39)	Y365C	probably damaging	Het
Sp140l2	T	A	1: 85,231,881 (GRCm39)	T180S	probably benign	Het
Sprr2h	A	T	3: 92,294,120 (GRCm39)	E61V	unknown	Het
Tead3	A	C	17: 28,552,203 (GRCm39)	V365G	probably damaging	Het
Trpm7	T	A	2: 126,688,119 (GRCm39)	N236I	probably damaging	Het
Zfp639	C	A	3: 32,574,215 (GRCm39)	A280E	probably damaging	Het

Other mutations in Ubxn2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Ubxn2b	APN	4	6,203,767 (GRCm39)	splice site	probably null
IGL02096:Ubxn2b	APN	4	6,214,749 (GRCm39)	missense	probably damaging	1.00
IGL02272:Ubxn2b	APN	4	6,216,071 (GRCm39)	missense	probably damaging	1.00
R0081:Ubxn2b	UTSW	4	6,203,875 (GRCm39)	splice site	probably benign
R0482:Ubxn2b	UTSW	4	6,196,404 (GRCm39)	splice site	probably null
R1903:Ubxn2b	UTSW	4	6,208,889 (GRCm39)	missense	possibly damaging	0.82
R4206:Ubxn2b	UTSW	4	6,204,565 (GRCm39)	missense	probably damaging	0.99
R5071:Ubxn2b	UTSW	4	6,214,746 (GRCm39)	missense	probably damaging	1.00
R7622:Ubxn2b	UTSW	4	6,214,692 (GRCm39)	missense	probably damaging	0.98
R8836:Ubxn2b	UTSW	4	6,216,061 (GRCm39)	missense	probably damaging	1.00
R9156:Ubxn2b	UTSW	4	6,214,646 (GRCm39)	missense	probably damaging	1.00
R9413:Ubxn2b	UTSW	4	6,204,607 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGAATGGTGACTATAGAGAGATCTC -3'
(R):5'- TAGGGCACAGGATTCCACAC -3'

Sequencing Primer
(F):5'- CTGAAAAACTGGCGAGCCCTG -3'
(R):5'- GGATTCCACACGCACCC -3'

Posted On

2020-01-23