Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01310:Ubash3a'

73622

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01310

Quality Score

Status

Chromosome

Chromosomal Location

31426847-31465866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 31434116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 154 (I154L)

Ref Sequence

ENSEMBL: ENSMUSP00000045890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048656] [ENSMUST00000144772] [ENSMUST00000173776]

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 benign
Transcript: ENSMUST00000048656
AA Change: I154L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000045890
Gene: ENSMUSG00000042345
AA Change: I154L

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

probably benign
Transcript: ENSMUST00000144772

SMART Domains

Protein: ENSMUSP00000119279
Gene: ENSMUSG00000042345

Domain	Start	End	E-Value	Type
Pfam:UBA	21	57	8.3e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151620

Predicted Effect

probably benign
Transcript: ENSMUST00000173776

SMART Domains

Protein: ENSMUSP00000134557
Gene: ENSMUSG00000042345

Domain	Start	End	E-Value	Type
Pfam:UBA	21	57	1.1e-6	PFAM

Coding Region Coverage

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930431F12Rik	A	T	5: 45,125,156 (GRCm39)		noncoding transcript	Het
Abca12	A	T	1: 71,323,315 (GRCm39)	I1589N	probably benign	Het
Abca8a	T	G	11: 109,950,801 (GRCm39)	D888A	probably benign	Het
Adam5	C	T	8: 25,232,150 (GRCm39)		probably benign	Het
Amer1	A	T	X: 94,470,716 (GRCm39)	N467K	probably benign	Het
Atp6v0a2	A	G	5: 124,783,968 (GRCm39)	D272G	probably damaging	Het
Cacna1b	A	T	2: 24,575,794 (GRCm39)	N751K	probably damaging	Het
Cfi	T	A	3: 129,652,080 (GRCm39)	N250K	probably damaging	Het
Cndp2	G	T	18: 84,689,002 (GRCm39)	P260Q	possibly damaging	Het
Cnnm3	A	G	1: 36,551,956 (GRCm39)	D322G	probably benign	Het
Crybg1	A	T	10: 43,851,054 (GRCm39)	S1606T	possibly damaging	Het
Crybg1	A	G	10: 43,879,596 (GRCm39)	S531P	probably damaging	Het
Espnl	A	T	1: 91,268,333 (GRCm39)	K320*	probably null	Het
Glt1d1	A	G	5: 127,709,384 (GRCm39)	T13A	possibly damaging	Het
Gpam	C	T	19: 55,066,764 (GRCm39)	A584T	possibly damaging	Het
Gpr19	A	G	6: 134,846,705 (GRCm39)	I289T	probably damaging	Het
Grm8	T	C	6: 27,363,800 (GRCm39)	I572V	probably damaging	Het
Gtpbp4	A	T	13: 9,027,308 (GRCm39)	N502K	probably benign	Het
Herpud2	T	C	9: 25,062,247 (GRCm39)	M6V	probably benign	Het
Igdcc3	T	C	9: 65,085,724 (GRCm39)	V263A	probably damaging	Het
Il33	G	A	19: 29,930,156 (GRCm39)	A65T	probably benign	Het
Itga9	T	A	9: 118,598,227 (GRCm39)	M1K	probably null	Het
Izumo3	T	C	4: 92,035,217 (GRCm39)		probably benign	Het
Kdr	G	A	5: 76,110,261 (GRCm39)	P909S	probably damaging	Het
Kirrel1	C	T	3: 86,997,182 (GRCm39)	E262K	probably benign	Het
Krt25	T	A	11: 99,208,996 (GRCm39)	Q278L	probably benign	Het
Lgi2	G	T	5: 52,711,807 (GRCm39)	P195Q	probably benign	Het
Lpcat3	T	C	6: 124,676,301 (GRCm39)	F120S	possibly damaging	Het
Nalcn	C	T	14: 123,554,661 (GRCm39)	R910Q	probably benign	Het
Nrxn1	A	G	17: 90,366,902 (GRCm39)		probably null	Het
Nuf2	A	T	1: 169,326,431 (GRCm39)	V440E	probably benign	Het
Or10ag60	T	A	2: 87,437,852 (GRCm39)	I40N	possibly damaging	Het
Or4f14	C	T	2: 111,742,652 (GRCm39)	V208M	probably benign	Het
Or51ah3	C	T	7: 103,210,008 (GRCm39)	S108F	probably benign	Het
Or6c205	T	C	10: 129,086,865 (GRCm39)	I154T	possibly damaging	Het
Pfpl	A	G	19: 12,405,974 (GRCm39)	D75G	probably damaging	Het
Pgm5	A	G	19: 24,812,130 (GRCm39)	V134A	possibly damaging	Het
Prkch	A	G	12: 73,805,787 (GRCm39)	I521V	possibly damaging	Het
Rps6kc1	T	A	1: 190,515,822 (GRCm39)	E968V	probably benign	Het
Slc25a30	T	C	14: 76,007,037 (GRCm39)	Y153C	probably damaging	Het
Smtnl2	T	A	11: 72,292,171 (GRCm39)		probably null	Het
Spmip4	C	A	6: 50,551,175 (GRCm39)	V425L	probably benign	Het
Tbc1d14	T	A	5: 36,700,544 (GRCm39)	K275*	probably null	Het
Tnc	T	C	4: 63,931,314 (GRCm39)	T799A	probably benign	Het
Trdn	A	T	10: 33,181,094 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,706,879 (GRCm39)		probably benign	Het
Uaca	T	C	9: 60,779,507 (GRCm39)	M1296T	probably benign	Het
Vmn2r4	T	A	3: 64,317,200 (GRCm39)		probably null	Het
Xpc	T	C	6: 91,467,089 (GRCm39)	K915E	probably benign	Het
Zfp318	T	C	17: 46,724,153 (GRCm39)	I2052T	possibly 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
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
IGL03014:Ubash3a	UTSW	17	31,458,198 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-10-07