Mutagenetix > Incidental Mutation

Incidental Mutation 'R9096:Tasp1'

691335

Institutional Source

Beutler Lab

Gene Symbol

Tasp1

Ensembl Gene

ENSMUSG00000039033

Gene Name

taspase, threonine aspartase 1

Synonyms

4930485D02Rik

MMRRC Submission

068911-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R9096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139675400-139908725 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 139725690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046656] [ENSMUST00000099304] [ENSMUST00000110079]

AlphaFold

Q8R1G1

Predicted Effect

probably null
Transcript: ENSMUST00000046656

SMART Domains

Protein: ENSMUSP00000039546
Gene: ENSMUSG00000039033

Domain	Start	End	E-Value	Type
Pfam:Asparaginase_2	42	346	1.1e-50	PFAM
low complexity region	347	358	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099304

SMART Domains

Protein: ENSMUSP00000096907
Gene: ENSMUSG00000039033

Domain	Start	End	E-Value	Type
Pfam:Asparaginase_2	42	286	1.1e-46	PFAM
low complexity region	310	321	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110079

SMART Domains

Protein: ENSMUSP00000105706
Gene: ENSMUSG00000039033

Domain	Start	End	E-Value	Type
Pfam:Asparaginase_2	42	348	1.3e-62	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display prenatal and early postnatal lethality, reduced body size, impaired suckling behavior, homeotic transformations of the axial skeleton, and cell cycle defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,339,793 (GRCm39)	V73E		Het
Abhd12b	T	A	12: 70,210,207 (GRCm39)	Y128N	probably damaging	Het
Arhgap40	A	T	2: 158,389,584 (GRCm39)	M586L	probably benign	Het
Armt1	T	C	10: 4,384,829 (GRCm39)	S15P	probably damaging	Het
Arnt	G	T	3: 95,397,588 (GRCm39)	S535I	probably benign	Het
Bmper	T	C	9: 23,134,988 (GRCm39)	S18P	possibly damaging	Het
Catsperg1	G	C	7: 28,884,152 (GRCm39)	T987R	probably damaging	Het
Col9a1	A	T	1: 24,224,207 (GRCm39)	I130F	unknown	Het
Dennd1a	G	T	2: 37,690,077 (GRCm39)	L1008I	probably damaging	Het
Depdc1a	T	A	3: 159,204,117 (GRCm39)	D55E	probably benign	Het
Dlc1	A	T	8: 37,080,721 (GRCm39)	I10N	probably benign	Het
Dnah1	T	A	14: 30,983,027 (GRCm39)	I4203F	probably damaging	Het
Dzank1	G	T	2: 144,316,882 (GRCm39)	L767I	possibly damaging	Het
Eprs1	C	A	1: 185,139,303 (GRCm39)	A896E	probably benign	Het
Fryl	T	C	5: 73,265,920 (GRCm39)	D467G	probably benign	Het
Gab3	TTC	TTCCTC	X: 74,043,610 (GRCm39)		probably benign	Het
Gimd1	T	A	3: 132,340,661 (GRCm39)	M59K	probably benign	Het
Gm3667	T	C	14: 18,270,388 (GRCm39)	Y139C	probably damaging	Het
Gng2	T	A	14: 19,941,471 (GRCm39)		probably null	Het
Gpr162	A	G	6: 124,836,570 (GRCm39)	I367T	probably benign	Het
Hacd4	A	G	4: 88,355,695 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,532,869 (GRCm39)	V3105M	probably benign	Het
Iws1	T	C	18: 32,216,373 (GRCm39)	V371A	probably benign	Het
Kctd10	C	T	5: 114,508,232 (GRCm39)	R92Q	probably damaging	Het
Lepr	T	C	4: 101,631,418 (GRCm39)	F643L	possibly damaging	Het
Lpgat1	T	C	1: 191,451,569 (GRCm39)	V65A	possibly damaging	Het
Lrrk2	C	T	15: 91,557,459 (GRCm39)		probably benign	Het
Magel2	A	G	7: 62,030,297 (GRCm39)	D1067G	unknown	Het
Mrc2	A	G	11: 105,231,398 (GRCm39)	D777G	probably damaging	Het
Nol10	T	A	12: 17,466,199 (GRCm39)	D531E	probably benign	Het
Odf2	T	A	2: 29,783,508 (GRCm39)	V103D	probably damaging	Het
Or4f7	T	A	2: 111,644,196 (GRCm39)	K292*	probably null	Het
Pcdhb21	A	G	18: 37,648,071 (GRCm39)	Y400C	probably damaging	Het
Pkn2	C	T	3: 142,515,249 (GRCm39)	R695Q	probably benign	Het
Pld3	A	G	7: 27,232,089 (GRCm39)	V397A	probably benign	Het
Ppp1r9a	A	G	6: 4,906,012 (GRCm39)	D189G	probably damaging	Het
Ppp2r1b	A	G	9: 50,777,856 (GRCm39)	K267R	probably benign	Het
Prkca	A	G	11: 107,905,061 (GRCm39)	S226P	probably benign	Het
Ptpru	T	C	4: 131,499,843 (GRCm39)	N1267S	probably damaging	Het
Pxn	T	A	5: 115,686,680 (GRCm39)	C391S	probably benign	Het
Rars1	T	C	11: 35,718,256 (GRCm39)	E136G	probably benign	Het
Rrp12	A	T	19: 41,878,577 (GRCm39)	D189E	probably benign	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Sdc1	T	C	12: 8,841,665 (GRCm39)	L265P	probably damaging	Het
Sycp2l	A	T	13: 41,300,070 (GRCm39)	D428V	possibly damaging	Het
Telo2	T	C	17: 25,324,066 (GRCm39)	T550A	probably benign	Het
Tmem131l	A	T	3: 83,850,122 (GRCm39)	N225K	probably damaging	Het
Tmem260	T	A	14: 48,757,803 (GRCm39)	V706D	unknown	Het
Tnr	T	A	1: 159,677,804 (GRCm39)	M63K	probably benign	Het
Ttn	A	G	2: 76,572,413 (GRCm39)	I26160T	probably damaging	Het
Ubap1	T	C	4: 41,379,872 (GRCm39)		probably null	Het
Ush2a	C	T	1: 188,198,333 (GRCm39)	P1466S	probably benign	Het
Usp24	T	G	4: 106,254,508 (GRCm39)	M1495R	probably benign	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vmn1r16	A	T	6: 57,300,250 (GRCm39)	I124N	probably benign	Het
Vmn1r181	A	G	7: 23,684,444 (GRCm39)	N303S	probably benign	Het
Vmn1r50	G	A	6: 90,085,022 (GRCm39)	V256I	probably benign	Het
Vps54	A	G	11: 21,227,913 (GRCm39)	N288S	possibly damaging	Het
Zfp266	A	T	9: 20,416,440 (GRCm39)	F50Y	probably damaging	Het

Other mutations in Tasp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01110:Tasp1	APN	2	139,819,538 (GRCm39)	missense	probably damaging	1.00
IGL01476:Tasp1	APN	2	139,850,693 (GRCm39)	missense	probably benign	0.01
IGL02876:Tasp1	APN	2	139,676,283 (GRCm39)	missense	probably benign	0.45
PIT4449001:Tasp1	UTSW	2	139,752,455 (GRCm39)	missense	possibly damaging	0.67
R0352:Tasp1	UTSW	2	139,793,378 (GRCm39)	critical splice donor site	probably null
R0381:Tasp1	UTSW	2	139,793,403 (GRCm39)	missense	probably damaging	1.00
R1056:Tasp1	UTSW	2	139,850,684 (GRCm39)	missense	possibly damaging	0.94
R1350:Tasp1	UTSW	2	139,899,341 (GRCm39)	missense	probably damaging	1.00
R1836:Tasp1	UTSW	2	139,793,477 (GRCm39)	missense	probably damaging	1.00
R2005:Tasp1	UTSW	2	139,819,598 (GRCm39)	missense	probably damaging	1.00
R2129:Tasp1	UTSW	2	139,890,164 (GRCm39)	missense	possibly damaging	0.75
R2259:Tasp1	UTSW	2	139,793,426 (GRCm39)	missense	probably damaging	1.00
R2321:Tasp1	UTSW	2	139,899,332 (GRCm39)	missense	probably benign	0.05
R3700:Tasp1	UTSW	2	139,752,474 (GRCm39)	missense	probably benign	0.00
R3842:Tasp1	UTSW	2	139,793,421 (GRCm39)	missense	probably damaging	1.00
R5526:Tasp1	UTSW	2	139,850,709 (GRCm39)	missense	probably damaging	1.00
R5724:Tasp1	UTSW	2	139,899,339 (GRCm39)	missense	probably damaging	0.99
R6345:Tasp1	UTSW	2	139,793,457 (GRCm39)	missense	probably damaging	1.00
R6533:Tasp1	UTSW	2	139,676,277 (GRCm39)	makesense	probably null
R7723:Tasp1	UTSW	2	139,827,051 (GRCm39)	missense	probably damaging	1.00
R7796:Tasp1	UTSW	2	139,850,705 (GRCm39)	missense	probably damaging	0.98
R9097:Tasp1	UTSW	2	139,725,690 (GRCm39)	critical splice donor site	probably null
R9153:Tasp1	UTSW	2	139,899,327 (GRCm39)	missense	probably damaging	1.00
R9598:Tasp1	UTSW	2	139,819,567 (GRCm39)	missense	probably benign
R9797:Tasp1	UTSW	2	139,838,015 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- CCAATTTAATTCCGGCACTAAGGAG -3'
(R):5'- GTTGTCAGAAGTTGGACATCTTTC -3'

Sequencing Primer
(F):5'- GCTGCAACTTGATATACCAGTGCTG -3'
(R):5'- CGTGCCACATTTTTGTTTTAGTAATC -3'

Posted On

2021-12-30