Mutagenetix > Incidental Mutation

Incidental Mutation 'R2129:Tasp1'

227806

Institutional Source

Beutler Lab

Gene Symbol

Tasp1

Ensembl Gene

ENSMUSG00000039033

Gene Name

taspase, threonine aspartase 1

Synonyms

4930485D02Rik

MMRRC Submission

040132-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R2129 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139675400-139908725 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139890164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 71 (K71E)

Ref Sequence

ENSEMBL: ENSMUSP00000096907 (fasta)

Gene Model

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

AlphaFold

Q8R1G1

Predicted Effect

probably benign
Transcript: ENSMUST00000046656
AA Change: K71E

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039546
Gene: ENSMUSG00000039033
AA Change: K71E

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

possibly damaging
Transcript: ENSMUST00000099304
AA Change: K71E

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096907
Gene: ENSMUSG00000039033
AA Change: K71E

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: K71E

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105706
Gene: ENSMUSG00000039033
AA Change: K71E

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

Meta Mutation Damage Score

0.0892

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (91/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,066,066 (GRCm39)	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,293,349 (GRCm39)	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 159,902,945 (GRCm39)	K72*	probably null	Het
Abhd14a	A	T	9: 106,318,064 (GRCm39)	L125Q	probably null	Het
Abhd17b	T	A	19: 21,658,413 (GRCm39)		probably null	Het
Abo	G	A	2: 26,736,586 (GRCm39)	T61I	probably benign	Het
Adamts15	T	C	9: 30,815,799 (GRCm39)	T686A	probably benign	Het
Adgrv1	A	T	13: 81,705,199 (GRCm39)	F1537Y	probably damaging	Het
Anxa2	A	T	9: 69,383,410 (GRCm39)	Y75F	possibly damaging	Het
Aqp3	T	A	4: 41,098,061 (GRCm39)	I17F	probably benign	Het
Aspm	T	C	1: 139,385,373 (GRCm39)	V339A	probably benign	Het
Bri3bp	T	A	5: 125,528,735 (GRCm39)	L48*	probably null	Het
Car7	T	A	8: 105,275,605 (GRCm39)	C185S	possibly damaging	Het
Casp8ap2	T	C	4: 32,640,142 (GRCm39)	Y399H	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chst10	A	G	1: 38,904,776 (GRCm39)	Y203H	probably benign	Het
Clca3a1	T	C	3: 144,722,526 (GRCm39)	D282G	probably damaging	Het
Coq3	T	G	4: 21,900,342 (GRCm39)	S190A	probably benign	Het
Crocc	G	A	4: 140,744,407 (GRCm39)	R1830C	probably damaging	Het
Cygb	A	G	11: 116,540,668 (GRCm39)	L106P	probably damaging	Het
Dab2	G	T	15: 6,365,864 (GRCm39)	E87*	probably null	Het
Dcst1	T	A	3: 89,264,852 (GRCm39)	I299F	probably damaging	Het
Dennd4a	T	G	9: 64,813,256 (GRCm39)		probably null	Het
Depdc7	A	G	2: 104,558,518 (GRCm39)	S168P	probably benign	Het
Dicer1	G	A	12: 104,688,290 (GRCm39)	T429I	probably damaging	Het
Dnah5	A	G	15: 28,408,467 (GRCm39)	Q3484R	probably benign	Het
Dock2	T	C	11: 34,618,242 (GRCm39)	M125V	probably damaging	Het
Dync2h1	A	G	9: 7,175,289 (GRCm39)	S107P	possibly damaging	Het
Emb	T	C	13: 117,404,082 (GRCm39)	V278A	probably damaging	Het
Firrm	T	C	1: 163,794,026 (GRCm39)	Y518C	probably damaging	Het
Foxk1	C	A	5: 142,420,943 (GRCm39)	S189*	probably null	Het
Galm	T	C	17: 80,490,647 (GRCm39)	I268T	probably benign	Het
Gm5581	A	C	6: 131,145,247 (GRCm39)		noncoding transcript	Het
Gpr6	G	A	10: 40,947,168 (GRCm39)	S138L	possibly damaging	Het
Hesx1	C	A	14: 26,722,802 (GRCm39)	H42Q	possibly damaging	Het
Hsp90b1	T	C	10: 86,531,570 (GRCm39)	D421G	probably damaging	Het
Kctd19	T	C	8: 106,111,804 (GRCm39)	T31A	probably damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Krtap19-3	T	C	16: 88,674,863 (GRCm39)		probably benign	Het
Lin28a	T	A	4: 133,745,465 (GRCm39)	I43F	probably benign	Het
Lrriq1	G	A	10: 103,050,718 (GRCm39)	T678I	probably benign	Het
Macf1	A	G	4: 123,262,608 (GRCm39)		probably benign	Het
Madcam1	A	G	10: 79,501,406 (GRCm39)	E157G	possibly damaging	Het
Mctp1	A	G	13: 76,972,941 (GRCm39)	D648G	probably damaging	Het
Megf8	T	C	7: 25,030,140 (GRCm39)	L425P	probably damaging	Het
Mospd4	A	G	18: 46,598,731 (GRCm39)		noncoding transcript	Het
Mybpc1	T	G	10: 88,387,314 (GRCm39)	T466P	probably damaging	Het
Myo10	T	C	15: 25,781,885 (GRCm39)	Y1127H	probably benign	Het
Myo18b	A	T	5: 112,978,944 (GRCm39)	L1223Q	probably damaging	Het
Myo9b	T	C	8: 71,786,343 (GRCm39)	Y670H	probably damaging	Het
Ndufaf4	G	T	4: 24,898,608 (GRCm39)	D55Y	probably damaging	Het
Neurod2	G	T	11: 98,218,414 (GRCm39)	A250E	possibly damaging	Het
Nherf1	A	T	11: 115,067,270 (GRCm39)	I174F	probably damaging	Het
Nipsnap1	C	A	11: 4,838,932 (GRCm39)	N119K	probably benign	Het
Npffr2	A	T	5: 89,715,924 (GRCm39)	I84F	probably damaging	Het
Or10ab4	T	A	7: 107,655,111 (GRCm39)	N307K	probably benign	Het
Or11h23	A	G	14: 50,948,093 (GRCm39)	Y102C	probably damaging	Het
Or2t48	T	C	11: 58,420,437 (GRCm39)	D125G	probably damaging	Het
Pald1	A	G	10: 61,184,085 (GRCm39)		probably null	Het
Palld	T	C	8: 62,330,395 (GRCm39)	S161G	probably benign	Het
Paqr9	T	A	9: 95,443,122 (GRCm39)	F371I	probably benign	Het
Pear1	A	T	3: 87,665,666 (GRCm39)	C120*	probably null	Het
Pla2g4e	A	T	2: 120,013,292 (GRCm39)	F343I	probably damaging	Het
Plxdc2	A	T	2: 16,516,902 (GRCm39)	Y61F	probably benign	Het
Polh	G	A	17: 46,499,014 (GRCm39)	Q234*	probably null	Het
Prkce	T	A	17: 86,803,463 (GRCm39)	M454K	possibly damaging	Het
Proser1	C	A	3: 53,385,366 (GRCm39)	T416K	probably benign	Het
Prr14l	G	T	5: 32,989,172 (GRCm39)		probably benign	Het
Rabgap1l	A	T	1: 160,566,527 (GRCm39)	D90E	probably benign	Het
Rp1l1	T	A	14: 64,266,415 (GRCm39)	V667D	possibly damaging	Het
Rpp40	A	T	13: 36,082,604 (GRCm39)	C256*	probably null	Het
Rps6ka5	A	G	12: 100,644,797 (GRCm39)	L51P	probably damaging	Het
Rtp2	C	T	16: 23,746,457 (GRCm39)	C78Y	probably damaging	Het
Ryr3	A	G	2: 112,508,715 (GRCm39)		probably benign	Het
Slc10a6	A	G	5: 103,756,922 (GRCm39)	Y281H	probably benign	Het
Slc6a21	T	G	7: 44,932,197 (GRCm39)		probably null	Het
Smo	A	G	6: 29,757,313 (GRCm39)	Y476C	probably damaging	Het
Tacr3	A	T	3: 134,560,621 (GRCm39)	T187S	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tg	A	G	15: 66,566,743 (GRCm39)	I1264V	probably benign	Het
Tmem41a	T	C	16: 21,764,911 (GRCm39)		probably null	Het
Tmem63a	A	G	1: 180,793,105 (GRCm39)	N459D	probably benign	Het
Ube2k	A	G	5: 65,752,269 (GRCm39)	T151A	probably damaging	Het
Ubr1	T	C	2: 120,773,034 (GRCm39)	E402G	probably benign	Het
Ulk4	T	A	9: 120,981,248 (GRCm39)	I897F	probably benign	Het
Usp30	A	G	5: 114,249,224 (GRCm39)	E176G	probably damaging	Het
Utp20	A	G	10: 88,649,917 (GRCm39)	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,804,782 (GRCm39)	S142G	probably benign	Het
Wdr17	C	T	8: 55,085,416 (GRCm39)	V1236M	probably damaging	Het
Zbtb32	T	C	7: 30,290,918 (GRCm39)	K126E	possibly damaging	Het
Zeb1	A	T	18: 5,767,681 (GRCm39)	S731C	possibly 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
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
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'- GGCTTCAAAGAGAAACCCTGC -3'
(R):5'- AGCTAAGGCACTAGGATTGTG -3'

Sequencing Primer
(F):5'- GATTATAGGCATGTGACACCACTGC -3'
(R):5'- CTAAGGCACTAGGATTGTGTCTGAG -3'

Posted On

2014-09-17