Mutagenetix > Incidental Mutation

Incidental Mutation 'R7613:Ubxn2a'

588734

Institutional Source

Beutler Lab

Gene Symbol

Ubxn2a

Ensembl Gene

ENSMUSG00000020634

Gene Name

UBX domain protein 2A

Synonyms

Ubxd4, 6330407P03Rik

MMRRC Submission

045681-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R7613 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4929032-4957705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4933832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 193 (V193D)

Ref Sequence

ENSEMBL: ENSMUSP00000020962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020962] [ENSMUST00000141360] [ENSMUST00000142867]

AlphaFold

Q99KJ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020962
AA Change: V193D

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020962
Gene: ENSMUSG00000020634
AA Change: V193D

Domain	Start	End	E-Value	Type
SEP	58	151	1.52e-25	SMART
UBX	167	248	4.07e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141360

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142867
AA Change: V193D

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118834
Gene: ENSMUSG00000020634
AA Change: V193D

Domain	Start	End	E-Value	Type
SEP	58	151	1.52e-25	SMART
UBX	167	248	4.07e-3	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adgrb2	CTATA	CTATATA	4: 129,915,006 (GRCm39)		probably benign	Het
Adh1	T	A	3: 137,992,592 (GRCm39)	L236*	probably null	Het
Akt2	A	G	7: 27,336,595 (GRCm39)	I448V	probably benign	Het
Anapc5	G	A	5: 122,956,928 (GRCm39)	T117M	probably damaging	Het
Cacna1d	A	T	14: 29,788,120 (GRCm39)	D1605E	probably benign	Het
Celsr2	C	T	3: 108,302,956 (GRCm39)	G2506R	probably damaging	Het
Cenpe	T	A	3: 134,948,063 (GRCm39)	F31L	possibly damaging	Het
Cenpj	G	A	14: 56,764,501 (GRCm39)	R1304*	probably null	Het
Cfap58	A	G	19: 47,970,561 (GRCm39)	D593G	possibly damaging	Het
Crip2	T	C	12: 113,107,777 (GRCm39)		probably null	Het
Crocc2	G	T	1: 93,122,311 (GRCm39)	A735S	possibly damaging	Het
Dnah2	A	G	11: 69,439,816 (GRCm39)		probably null	Het
Dpp8	C	T	9: 64,960,402 (GRCm39)	T311M	possibly damaging	Het
Eps15	T	C	4: 109,186,922 (GRCm39)	S330P	probably damaging	Het
Exoc2	C	T	13: 31,066,255 (GRCm39)	V474I	probably benign	Het
Foxn2	T	C	17: 88,794,311 (GRCm39)	I416T	possibly damaging	Het
Gbp8	T	C	5: 105,178,880 (GRCm39)	E145G	probably damaging	Het
Gm3676	T	A	14: 41,365,233 (GRCm39)	I141L	probably benign	Het
Gm4131	A	G	14: 62,718,538 (GRCm39)	Y23H	possibly damaging	Het
Gucy1b1	T	A	3: 81,947,054 (GRCm39)	D385V	possibly damaging	Het
Hdac2	T	C	10: 36,865,232 (GRCm39)	S149P	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igsf9b	A	T	9: 27,245,418 (GRCm39)	R1128S	probably benign	Het
Invs	A	G	4: 48,392,668 (GRCm39)	H294R	probably damaging	Het
Kansl3	G	A	1: 36,382,876 (GRCm39)	S812F	probably damaging	Het
Katnbl1	T	C	2: 112,239,538 (GRCm39)	S246P	probably benign	Het
Kcnt1	A	T	2: 25,791,358 (GRCm39)	H567L	probably benign	Het
Krt33a	A	G	11: 99,902,765 (GRCm39)	I353T	probably damaging	Het
Lrguk	A	T	6: 34,078,683 (GRCm39)	R639S	possibly damaging	Het
Lrrc37	G	T	11: 103,507,116 (GRCm39)	H1617Q	unknown	Het
Mcoln2	A	T	3: 145,881,299 (GRCm39)		probably null	Het
Myo15a	A	G	11: 60,395,978 (GRCm39)	T1438A		Het
Myocd	A	G	11: 65,109,429 (GRCm39)	L114P	probably damaging	Het
Nutm1	T	C	2: 112,079,584 (GRCm39)	N777S	probably benign	Het
Or5b21	A	T	19: 12,839,141 (GRCm39)	M1L	probably benign	Het
Pde4b	A	G	4: 102,112,503 (GRCm39)	E29G	probably damaging	Het
Plekhn1	G	A	4: 156,309,277 (GRCm39)	P210S	probably benign	Het
Por	G	T	5: 135,758,358 (GRCm39)	A112S	probably damaging	Het
Prkcq	T	C	2: 11,304,221 (GRCm39)	F651S	probably damaging	Het
Rnf148	A	C	6: 23,654,979 (GRCm39)	S6A	probably benign	Het
Selenoi	A	G	5: 30,471,926 (GRCm39)	I376V	possibly damaging	Het
Skint6	A	T	4: 113,034,243 (GRCm39)		probably null	Het
Tdrd6	T	C	17: 43,938,817 (GRCm39)	T744A	probably benign	Het
Tet2	T	A	3: 133,172,509 (GRCm39)	T1918S	possibly damaging	Het
Ttc28	C	A	5: 111,371,995 (GRCm39)	L846M	probably damaging	Het
Umodl1	T	A	17: 31,207,031 (GRCm39)	C807*	probably null	Het
Upf2	T	A	2: 5,978,347 (GRCm39)	S404T	unknown	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Usp53	A	T	3: 122,743,467 (GRCm39)	S490T	probably benign	Het
Wscd1	T	C	11: 71,650,799 (GRCm39)	L42P	possibly damaging	Het
Xirp2	T	C	2: 67,344,842 (GRCm39)	I2361T	probably benign	Het

Other mutations in Ubxn2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00956:Ubxn2a	APN	12	4,933,956 (GRCm39)	missense	probably benign	0.00
R0611:Ubxn2a	UTSW	12	4,930,700 (GRCm39)	missense	probably damaging	1.00
R0900:Ubxn2a	UTSW	12	4,952,257 (GRCm39)	missense	probably damaging	1.00
R1808:Ubxn2a	UTSW	12	4,935,839 (GRCm39)	missense	probably benign	0.00
R1883:Ubxn2a	UTSW	12	4,944,563 (GRCm39)	nonsense	probably null
R2163:Ubxn2a	UTSW	12	4,935,757 (GRCm39)	missense	probably damaging	1.00
R2404:Ubxn2a	UTSW	12	4,933,851 (GRCm39)	missense	probably benign	0.00
R3051:Ubxn2a	UTSW	12	4,941,322 (GRCm39)	nonsense	probably null
R3052:Ubxn2a	UTSW	12	4,941,322 (GRCm39)	nonsense	probably null
R3053:Ubxn2a	UTSW	12	4,941,322 (GRCm39)	nonsense	probably null
R4204:Ubxn2a	UTSW	12	4,944,593 (GRCm39)	missense	probably damaging	1.00
R5088:Ubxn2a	UTSW	12	4,933,904 (GRCm39)	missense	probably damaging	1.00
R5182:Ubxn2a	UTSW	12	4,930,634 (GRCm39)	missense	probably damaging	1.00
R5366:Ubxn2a	UTSW	12	4,930,741 (GRCm39)	missense	probably benign	0.04
R5518:Ubxn2a	UTSW	12	4,952,238 (GRCm39)	missense	probably benign	0.31
R7414:Ubxn2a	UTSW	12	4,941,381 (GRCm39)	missense	probably damaging	1.00
R8914:Ubxn2a	UTSW	12	4,930,754 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- GCATTGACACACTACATTTAGAGAG -3'
(R):5'- GTTCCTAACATGAGCATGATGTACAG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- CATGAGCATGATGTACAGTTTTTAC -3'

Posted On

2019-10-24