Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03014:Ubash3a'

453338

Institutional Source

Beutler Lab

Gene Symbol

Ubash3a

Ensembl Gene

ENSMUSG00000042345

Gene Name

ubiquitin associated and SH3 domain containing, A

Synonyms

Sts-2, 5830413C03Rik, TULA

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31426847-31465866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31458198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 559 (T559K)

Ref Sequence

ENSEMBL: ENSMUSP00000045890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048656]

AlphaFold

Q3V3E1

PDB Structure

Crystal structure of the 2H-phosphatase domain of Sts-2 [X-RAY DIFFRACTION]
Crystal structure of the 2H-phosphatase domain of Sts-2 in complex with tungstate. [X-RAY DIFFRACTION]
Crystal structure of the 2H-phosphatase domain of Sts-2 in complex with phosphate [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048656
AA Change: T559K

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

SMART Domains

Protein: ENSMUSP00000045890
Gene: ENSMUSG00000042345
AA Change: T559K

Domain	Start	End	E-Value	Type
Pfam:UBA	23	57	2.6e-7	PFAM
SH3	241	302	5.53e-10	SMART
Pfam:His_Phos_1	402	601	6.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151620

Meta Mutation Damage Score

0.6393

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice are viable and healthy with no abnormalities detected in any of the hematopoietic lineages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
AW112010	A	G	19: 11,025,456 (GRCm39)		noncoding transcript	Het
Ccdc134	T	C	15: 82,014,306 (GRCm39)	L13P	probably damaging	Het
Ccdc150	G	T	1: 54,329,861 (GRCm39)	V395F	probably damaging	Het
Cdh22	G	T	2: 164,954,331 (GRCm39)	S730*	probably null	Het
Cfap20dc	A	G	14: 8,431,608 (GRCm38)	*675Q	probably null	Het
Chrng	G	T	1: 87,138,759 (GRCm39)		probably null	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Csmd2	G	T	4: 128,190,222 (GRCm39)	M387I	probably benign	Het
Cux1	T	C	5: 136,594,379 (GRCm39)		probably benign	Het
D130043K22Rik	C	T	13: 25,042,075 (GRCm39)	P335S	possibly damaging	Het
Dctn1	A	G	6: 83,174,351 (GRCm39)		probably benign	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dsn1	A	T	2: 156,838,739 (GRCm39)	M292K	possibly damaging	Het
Efemp1	A	G	11: 28,876,218 (GRCm39)	Y461C	probably damaging	Het
Efl1	A	G	7: 82,301,094 (GRCm39)	T33A	probably damaging	Het
Fbln2	T	C	6: 91,242,901 (GRCm39)		probably benign	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Hecw1	T	A	13: 14,420,393 (GRCm39)	Y1010F	probably damaging	Het
Igha	A	G	12: 113,222,713 (GRCm39)	V236A	unknown	Het
Igsf9b	T	C	9: 27,233,932 (GRCm39)	M377T	probably benign	Het
Itga9	A	G	9: 118,457,212 (GRCm39)	T108A	probably benign	Het
Kcna3	A	T	3: 106,945,206 (GRCm39)	M490L	probably benign	Het
Lama3	A	T	18: 12,673,024 (GRCm39)	Y886F	possibly damaging	Het
Lcorl	T	C	5: 45,931,371 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Odr4	C	A	1: 150,258,804 (GRCm39)		probably benign	Het
Or1a1b	G	A	11: 74,097,653 (GRCm39)	L130F	probably damaging	Het
Or51a39	A	T	7: 102,362,753 (GRCm39)	V289E	probably null	Het
Pex10	A	G	4: 155,155,076 (GRCm39)		probably benign	Het
Plcl2	G	A	17: 50,918,029 (GRCm39)	V943M	possibly damaging	Het
Prkcd	T	A	14: 30,329,294 (GRCm39)	T164S	probably damaging	Het
Ptprn2	T	A	12: 117,212,308 (GRCm39)	L910Q	probably damaging	Het
Rab1b	T	C	19: 5,154,923 (GRCm39)	I41V	probably benign	Het
Scpep1	T	A	11: 88,824,271 (GRCm39)		probably null	Het
Sergef	T	C	7: 46,240,180 (GRCm39)	T288A	probably damaging	Het
Setdb1	G	A	3: 95,248,726 (GRCm39)	P397S	probably damaging	Het
Setx	T	A	2: 29,029,423 (GRCm39)	D230E	probably damaging	Het
Sin3a	C	A	9: 57,002,539 (GRCm39)		probably benign	Het
Smad5	T	C	13: 56,883,754 (GRCm39)	L380P	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,532,675 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,715,500 (GRCm39)	D346G	probably benign	Het
Trav7d-4	T	A	14: 53,007,353 (GRCm39)	W12R	unknown	Het
Trmt1l	G	T	1: 151,333,681 (GRCm39)	W728L	probably damaging	Het
Vmn1r72	T	A	7: 11,403,711 (GRCm39)	I246F	possibly damaging	Het
Zfp618	A	T	4: 62,998,325 (GRCm39)	Q109L	probably damaging	Het

Other mutations in Ubash3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Ubash3a	APN	17	31,447,160 (GRCm39)	missense	probably benign
IGL01310:Ubash3a	APN	17	31,434,116 (GRCm39)	missense	probably benign	0.03
IGL01450:Ubash3a	APN	17	31,427,205 (GRCm39)	missense	probably damaging	1.00
IGL02429:Ubash3a	APN	17	31,460,279 (GRCm39)	missense	probably benign	0.00
IGL02458:Ubash3a	APN	17	31,450,455 (GRCm39)	missense	possibly damaging	0.94
R1033:Ubash3a	UTSW	17	31,427,186 (GRCm39)	missense	probably damaging	1.00
R1700:Ubash3a	UTSW	17	31,434,018 (GRCm39)	missense	probably damaging	0.99
R2212:Ubash3a	UTSW	17	31,437,008 (GRCm39)	missense	probably damaging	1.00
R3800:Ubash3a	UTSW	17	31,450,444 (GRCm39)	missense	probably benign	0.24
R4125:Ubash3a	UTSW	17	31,456,249 (GRCm39)	missense	probably damaging	1.00
R4127:Ubash3a	UTSW	17	31,456,249 (GRCm39)	missense	probably damaging	1.00
R4128:Ubash3a	UTSW	17	31,456,249 (GRCm39)	missense	probably damaging	1.00
R4224:Ubash3a	UTSW	17	31,456,902 (GRCm39)	missense	probably damaging	1.00
R4786:Ubash3a	UTSW	17	31,436,938 (GRCm39)	missense	probably benign	0.31
R5311:Ubash3a	UTSW	17	31,438,691 (GRCm39)	missense	probably damaging	0.99
R5782:Ubash3a	UTSW	17	31,454,477 (GRCm39)	missense	probably benign	0.05
R5804:Ubash3a	UTSW	17	31,427,206 (GRCm39)	critical splice donor site	probably null
R6244:Ubash3a	UTSW	17	31,458,246 (GRCm39)	missense	possibly damaging	0.90
R6263:Ubash3a	UTSW	17	31,434,069 (GRCm39)	missense	probably benign	0.22
R6574:Ubash3a	UTSW	17	31,451,370 (GRCm39)	missense	probably damaging	1.00
R6736:Ubash3a	UTSW	17	31,450,389 (GRCm39)	missense	probably benign
R7041:Ubash3a	UTSW	17	31,447,184 (GRCm39)	missense	probably benign	0.00
R7458:Ubash3a	UTSW	17	31,427,139 (GRCm39)	missense	probably benign	0.02
R7490:Ubash3a	UTSW	17	31,451,286 (GRCm39)	missense	probably damaging	1.00
R7991:Ubash3a	UTSW	17	31,456,869 (GRCm39)	missense	probably benign	0.34
R9040:Ubash3a	UTSW	17	31,457,960 (GRCm39)	intron	probably benign
R9200:Ubash3a	UTSW	17	31,436,971 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTGTGCTCTAAATCATGGC -3'
(R):5'- GAGAGCAGGTAGGCACATTCAC -3'

Sequencing Primer
(F):5'- GTGCTCTAAATCATGGCAAAAGACTG -3'
(R):5'- GGTAGGCACATTCACATAGCCAG -3'

Posted On

2017-02-01