Mutagenetix > Incidental Mutation

Incidental Mutation 'R3700:Tasp1'

269939

Institutional Source

Beutler Lab

Gene Symbol

Tasp1

Ensembl Gene

ENSMUSG00000039033

Gene Name

taspase, threonine aspartase 1

Synonyms

4930485D02Rik

MMRRC Submission

040693-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R3700 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

139675400-139908725 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139752474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 322 (T322A)

Ref Sequence

ENSEMBL: ENSMUSP00000105706 (fasta)

Gene Model

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

AlphaFold

Q8R1G1

Predicted Effect

probably benign
Transcript: ENSMUST00000046656
AA Change: T322A

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

SMART Domains

Protein: ENSMUSP00000039546
Gene: ENSMUSG00000039033
AA Change: T322A

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
AA Change: T322A

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

SMART Domains

Protein: ENSMUSP00000105706
Gene: ENSMUSG00000039033
AA Change: T322A

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

Meta Mutation Damage Score

0.0848

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (51/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	G	A	18: 65,438,222 (GRCm39)	T1524I	probably damaging	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Arhgap26	T	A	18: 39,253,237 (GRCm39)	F221L	probably damaging	Het
Arhgap28	T	C	17: 68,208,361 (GRCm39)	S36G	probably damaging	Het
Bcl11a	A	G	11: 24,113,890 (GRCm39)	D411G	probably damaging	Het
Cdh23	C	A	10: 60,163,149 (GRCm39)		probably null	Het
Cnnm2	T	A	19: 46,750,990 (GRCm39)	I260N	probably damaging	Het
Coro6	T	C	11: 77,358,129 (GRCm39)	F238S	probably damaging	Het
Ddah1	G	A	3: 145,597,250 (GRCm39)	M162I	probably benign	Het
Dnah5	T	C	15: 28,387,937 (GRCm39)	I3132T	possibly damaging	Het
Drgx	A	T	14: 32,350,818 (GRCm39)	E218V	probably damaging	Het
Dync2i1	C	T	12: 116,175,462 (GRCm39)	W905*	probably null	Het
Eif3f	A	T	7: 108,539,482 (GRCm39)	I251F	probably benign	Het
Ephx4	T	C	5: 107,550,673 (GRCm39)	F11L	probably benign	Het
Esp1	T	C	17: 41,041,998 (GRCm39)	S97P	unknown	Het
Fbxw10	A	T	11: 62,759,983 (GRCm39)		probably null	Het
Hsp90ab1	T	C	17: 45,882,440 (GRCm39)	T85A	possibly damaging	Het
Idh2	T	C	7: 79,748,895 (GRCm39)	K129E	probably damaging	Het
Kcnj6	A	G	16: 94,633,865 (GRCm39)	I64T	probably damaging	Het
Klk1b5	T	A	7: 43,500,251 (GRCm39)	C280S	probably damaging	Het
Lhx2	T	A	2: 38,250,111 (GRCm39)	L269H	probably damaging	Het
Lrrc71	T	A	3: 87,653,185 (GRCm39)		probably null	Het
Lss	T	A	10: 76,382,026 (GRCm39)	L484Q	probably damaging	Het
Mmp14	G	A	14: 54,669,389 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,400,986 (GRCm39)	T534A	unknown	Het
Mysm1	T	C	4: 94,858,889 (GRCm39)	K87E	probably benign	Het
Or6d13	T	A	6: 116,517,489 (GRCm39)	V25E	probably benign	Het
Or6f2	C	G	7: 139,756,127 (GRCm39)	F37L	possibly damaging	Het
Pcolce	T	C	5: 137,607,309 (GRCm39)	T61A	probably damaging	Het
Phc3	C	A	3: 30,968,277 (GRCm39)	D920Y	probably damaging	Het
Pi4kb	T	C	3: 94,901,599 (GRCm39)	I422T	probably benign	Het
Piezo1	C	T	8: 123,221,642 (GRCm39)	R584H	probably damaging	Het
Plce1	T	A	19: 38,693,781 (GRCm39)	F768Y	probably damaging	Het
Ppp1r21	T	C	17: 88,889,882 (GRCm39)	S709P	possibly damaging	Het
Prdx6	T	C	1: 161,074,858 (GRCm39)	D74G	probably damaging	Het
Rlf	A	G	4: 121,008,060 (GRCm39)	F307L	possibly damaging	Het
Skic2	T	C	17: 35,068,879 (GRCm39)	E40G	probably benign	Het
Snapin	G	A	3: 90,397,499 (GRCm39)	R91*	probably null	Het
Sort1	T	A	3: 108,263,955 (GRCm39)	L838*	probably null	Het
Sstr4	A	G	2: 148,238,273 (GRCm39)	I295V	possibly damaging	Het
Stk39	T	A	2: 68,222,462 (GRCm39)	I201F	probably damaging	Het
Tepsin	C	T	11: 119,982,579 (GRCm39)	C491Y	possibly damaging	Het
Tlr9	G	A	9: 106,101,278 (GRCm39)	V190M	probably damaging	Het
Ttf2	A	G	3: 100,858,324 (GRCm39)	L755P	probably damaging	Het
Txn2	G	A	15: 77,811,976 (GRCm39)	T60M	possibly damaging	Het
Vmn1r10	A	G	6: 57,091,287 (GRCm39)	N293S	probably benign	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r111	C	T	17: 22,790,142 (GRCm39)	W288*	probably null	Het
Vmn2r118	T	C	17: 55,915,421 (GRCm39)	S510G	possibly damaging	Het
Zgpat	T	A	2: 181,007,439 (GRCm39)		probably benign	Het
Zzef1	G	T	11: 72,777,598 (GRCm39)	G1810C	probably null	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
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
R9096:Tasp1	UTSW	2	139,725,690 (GRCm39)	critical splice donor site	probably null
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'- AGGTCTCAGAATCTAGACACTAAAG -3'
(R):5'- TCCTGCAACGGAACTACTTG -3'

Sequencing Primer
(F):5'- GAATTGCTGATATCATGCTGTAGTAG -3'
(R):5'- TACTTGTAAGTAGTGCACAAGGG -3'

Posted On

2015-03-18