Mutagenetix > Incidental Mutation

Incidental Mutation 'R2404:Ubxn2a'

248877

Institutional Source

Beutler Lab

Gene Symbol

Ubxn2a

Ensembl Gene

ENSMUSG00000020634

Gene Name

UBX domain protein 2A

Synonyms

Ubxd4, 6330407P03Rik

MMRRC Submission

040370-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R2404 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4929032-4957705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4933851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 187 (T187A)

Ref Sequence

ENSEMBL: ENSMUSP00000118834 (fasta)

Gene Model

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

AlphaFold

Q99KJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000020962
AA Change: T187A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020962
Gene: ENSMUSG00000020634
AA Change: T187A

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

probably benign
Transcript: ENSMUST00000142867
AA Change: T187A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118834
Gene: ENSMUSG00000020634
AA Change: T187A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.2%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,923 (GRCm39)	T98A	possibly damaging	Het
Aifm2	A	G	10: 61,563,974 (GRCm39)	I161V	probably benign	Het
Arhgef26	T	C	3: 62,336,336 (GRCm39)	M625T	possibly damaging	Het
Atp9a	T	A	2: 168,517,283 (GRCm39)		probably null	Het
Avpr1a	T	C	10: 122,285,115 (GRCm39)	F136L	possibly damaging	Het
Bcas3	T	C	11: 85,245,715 (GRCm39)		probably benign	Het
Bnc1	A	T	7: 81,618,463 (GRCm39)	H867Q	probably benign	Het
Cdh12	C	T	15: 21,537,720 (GRCm39)	T407I	probably damaging	Het
Chd5	C	T	4: 152,451,791 (GRCm39)	T701M	probably damaging	Het
Dhx57	A	G	17: 80,561,733 (GRCm39)	V927A	probably damaging	Het
Dnah2	A	G	11: 69,328,047 (GRCm39)	F3353L	probably damaging	Het
Ect2	G	A	3: 27,185,999 (GRCm39)	P495S	probably benign	Het
Egfl7	G	A	2: 26,479,162 (GRCm39)	E25K	possibly damaging	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Hbs1l	A	T	10: 21,171,946 (GRCm39)		probably benign	Het
Insrr	C	T	3: 87,709,974 (GRCm39)	T309I	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif12	A	C	4: 63,088,790 (GRCm39)	L170R	probably damaging	Het
Krt90	A	G	15: 101,463,105 (GRCm39)		probably null	Het
Mcu	A	G	10: 59,303,526 (GRCm39)	S104P	probably damaging	Het
Mical3	G	A	6: 120,936,789 (GRCm39)	P374S	probably benign	Het
Ncam2	A	T	16: 81,287,128 (GRCm39)		probably benign	Het
Or12e9	A	G	2: 87,202,568 (GRCm39)	I231V	probably benign	Het
Or2t47	A	T	11: 58,442,546 (GRCm39)	I173N	probably damaging	Het
Or2w1b	T	C	13: 21,300,012 (GRCm39)	L50P	probably damaging	Het
Or5k17	G	A	16: 58,745,998 (GRCm39)	S312L	probably benign	Het
Otud7a	A	G	7: 63,346,899 (GRCm39)	S158G	probably benign	Het
Phlpp1	C	T	1: 106,100,569 (GRCm39)	T279M	probably benign	Het
Pkhd1l1	T	G	15: 44,414,216 (GRCm39)	W2828G	probably damaging	Het
Pnma8a	A	T	7: 16,694,316 (GRCm39)	N57I	probably damaging	Het
Ppp4r4	A	G	12: 103,547,749 (GRCm39)		probably null	Het
Ptprq	T	C	10: 107,522,460 (GRCm39)	Y531C	probably damaging	Het
Rai1	A	G	11: 60,080,750 (GRCm39)	T1605A	probably benign	Het
Satb2	T	C	1: 56,987,267 (GRCm39)	Y106C	probably damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc19a3	T	A	1: 83,000,756 (GRCm39)	H87L	probably benign	Het
Slc4a7	G	T	14: 14,733,733 (GRCm38)	V54L	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spen	T	C	4: 141,205,216 (GRCm39)	N1137S	unknown	Het
Spice1	T	C	16: 44,186,989 (GRCm39)	I162T	probably benign	Het
Spmip1	G	A	6: 29,473,390 (GRCm39)	R173Q	probably benign	Het
Sqor	A	T	2: 122,649,943 (GRCm39)	T396S	probably benign	Het
Tshz3	A	T	7: 36,469,805 (GRCm39)	Q598L	probably damaging	Het
Ttc13	C	T	8: 125,405,736 (GRCm39)		probably benign	Het
Usp28	T	C	9: 48,948,558 (GRCm39)		probably null	Het
Zc3h12a	T	C	4: 125,013,316 (GRCm39)	Y516C	probably damaging	Het
Zfp616	A	C	11: 73,975,682 (GRCm39)	K650N	probably damaging	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
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
R7613:Ubxn2a	UTSW	12	4,933,832 (GRCm39)	missense	possibly damaging	0.55
R8914:Ubxn2a	UTSW	12	4,930,754 (GRCm39)	missense	probably benign	0.42

Predicted Primers

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

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

Posted On

2014-11-11