Mutagenetix > Incidental Mutations

Incidental Mutation 'R1270:Aspg'

151286

Institutional Source

Beutler Lab

Gene Symbol

Aspg

Ensembl Gene

ENSMUSG00000037686

Gene Name

asparaginase

Synonyms

MMRRC Submission

039336-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R1270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112106679-112127559 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112116447 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 187 (T187I)

Ref Sequence

ENSEMBL: ENSMUSP00000078369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079400] [ENSMUST00000223184]

Predicted Effect

probably damaging
Transcript: ENSMUST00000079400
AA Change: T187I

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

SMART Domains

Protein: ENSMUSP00000078369
Gene: ENSMUSG00000037686
AA Change: T187I

Domain	Start	End	E-Value	Type
Asparaginase	10	348	2.67e-111	SMART
ANK	396	426	4.05e2	SMART
ANK	430	459	4.46e-7	SMART
ANK	463	494	1.1e2	SMART
ANK	530	559	4.73e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222645

Predicted Effect

probably benign
Transcript: ENSMUST00000222970

Predicted Effect

unknown
Transcript: ENSMUST00000223184
AA Change: P86S

Predicted Effect

probably benign
Transcript: ENSMUST00000223412
AA Change: T152I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223457

Meta Mutation Damage Score

0.1470

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,952,184	H1662Q	probably damaging	Het
Abcc3	C	T	11: 94,357,384	R1129Q	probably damaging	Het
Adam7	T	A	14: 68,527,669	K93M	probably damaging	Het
Aldh1a2	T	G	9: 71,281,706	L301V	probably benign	Het
Alg9	A	G	9: 50,787,572		probably benign	Het
C4a	A	G	17: 34,814,528		noncoding transcript	Het
Cdh2	T	G	18: 16,627,557		probably benign	Het
Ceacam1	T	C	7: 25,466,314		probably null	Het
Cep250	G	A	2: 155,990,681	V1509I	probably benign	Het
D130043K22Rik	T	C	13: 24,857,338	S248P	probably benign	Het
Dgkd	A	T	1: 87,934,125	M801L	probably damaging	Het
E330021D16Rik	A	T	6: 136,401,787	I15N	probably damaging	Het
Edc4	A	G	8: 105,891,264	E1152G	possibly damaging	Het
Enkd1	A	G	8: 105,703,901	I334T	probably damaging	Het
Gli3	C	T	13: 15,723,744	A803V	probably benign	Het
Glrx3	A	G	7: 137,453,414	N95S	probably benign	Het
Ints2	C	T	11: 86,233,085	G626R	probably damaging	Het
Kank2	A	T	9: 21,772,760	N724K	probably damaging	Het
Kctd20	A	G	17: 28,966,931	D416G	possibly damaging	Het
Lmtk3	A	G	7: 45,793,828	E645G	probably damaging	Het
Mrgpra9	A	T	7: 47,252,783		probably null	Het
Muc1	T	A	3: 89,232,107	Y605N	probably damaging	Het
Olfr1256	C	T	2: 89,835,322	V208M	possibly damaging	Het
Olfr146	A	C	9: 39,019,247	I98R	possibly damaging	Het
Prx	T	A	7: 27,518,930	I952N	probably damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Skint5	A	T	4: 113,942,659	Y90*	probably null	Het
Swt1	A	T	1: 151,384,391	N752K	probably benign	Het
Taar1	T	C	10: 23,920,533	V43A	probably damaging	Het
Tenm2	T	C	11: 36,041,659	N1702D	probably damaging	Het
Tff2	C	T	17: 31,144,169		probably null	Het
Trim2	G	A	3: 84,167,677	A686V	probably damaging	Het

Other mutations in Aspg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Aspg	APN	12	112122953	missense	probably benign
IGL02199:Aspg	APN	12	112120992	missense	probably benign	0.39
R0704:Aspg	UTSW	12	112114472	missense	probably damaging	1.00
R0730:Aspg	UTSW	12	112112259	nonsense	probably null
R1196:Aspg	UTSW	12	112116524	missense	possibly damaging	0.94
R1466:Aspg	UTSW	12	112121852	missense	probably benign	0.20
R1466:Aspg	UTSW	12	112121852	missense	probably benign	0.20
R1592:Aspg	UTSW	12	112119972	missense	probably benign	0.17
R1826:Aspg	UTSW	12	112123418	missense	probably damaging	0.99
R1859:Aspg	UTSW	12	112121172	missense	possibly damaging	0.86
R2124:Aspg	UTSW	12	112121174	missense	probably benign	0.15
R2154:Aspg	UTSW	12	112120974	missense	probably benign	0.01
R2190:Aspg	UTSW	12	112124888	missense	probably damaging	0.96
R2221:Aspg	UTSW	12	112114434	missense	probably damaging	1.00
R2223:Aspg	UTSW	12	112114434	missense	probably damaging	1.00
R3907:Aspg	UTSW	12	112112259	nonsense	probably null
R4234:Aspg	UTSW	12	112123316	nonsense	probably null
R4258:Aspg	UTSW	12	112121253	missense	probably benign	0.00
R4270:Aspg	UTSW	12	112121195	missense	probably damaging	1.00
R4271:Aspg	UTSW	12	112121195	missense	probably damaging	1.00
R5386:Aspg	UTSW	12	112123032	missense	probably benign	0.01
R5431:Aspg	UTSW	12	112123412	missense	probably benign	0.13
R5458:Aspg	UTSW	12	112120002	missense	probably damaging	0.99
R5941:Aspg	UTSW	12	112113085	missense	probably benign	0.02
R6003:Aspg	UTSW	12	112113042	missense	probably damaging	1.00
R6057:Aspg	UTSW	12	112120998	missense	probably damaging	0.96
R6928:Aspg	UTSW	12	112126689	missense	possibly damaging	0.52
R6979:Aspg	UTSW	12	112120944	missense	possibly damaging	0.77
R6998:Aspg	UTSW	12	112112194	missense	probably damaging	1.00
R7054:Aspg	UTSW	12	112126390	missense	probably damaging	0.98
R7060:Aspg	UTSW	12	112122953	missense	probably benign
R7124:Aspg	UTSW	12	112122983	missense	probably damaging	0.99
R7137:Aspg	UTSW	12	112112198	missense	possibly damaging	0.92
R7439:Aspg	UTSW	12	112124821	missense	possibly damaging	0.90
R7441:Aspg	UTSW	12	112124821	missense	possibly damaging	0.90
Z1176:Aspg	UTSW	12	112113081	missense	possibly damaging	0.58
Z1177:Aspg	UTSW	12	112121021	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTGTACCAGTAGTACACGCACC -3'
(R):5'- CTTATGCTCAGCACACAAGTCTCCC -3'

Sequencing Primer
(F):5'- CAGTAGTACACGCACCAGTGG -3'
(R):5'- GTCTCCCACCTCCACACATC -3'

Posted On

2014-01-29