Mutagenetix > Incidental Mutations

Incidental Mutation 'R2221:Aspg'

241512

Institutional Source

Beutler Lab

Gene Symbol

Aspg

Ensembl Gene

ENSMUSG00000037686

Gene Name

asparaginase

Synonyms

MMRRC Submission

040223-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R2221 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112106679-112127559 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112114434 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 120 (A120T)

Ref Sequence

ENSEMBL: ENSMUSP00000078369 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000079400
AA Change: A120T

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

SMART Domains

Protein: ENSMUSP00000078369
Gene: ENSMUSG00000037686
AA Change: A120T

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

probably benign
Transcript: ENSMUST00000223184

Predicted Effect

probably benign
Transcript: ENSMUST00000223412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223457

Meta Mutation Damage Score

0.5187

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,247,457		probably null	Het
Adamtsl1	A	C	4: 86,388,525	D1392A	probably benign	Het
Afdn	T	C	17: 13,883,737		probably benign	Het
Aph1b	A	T	9: 66,784,639	M121K	probably damaging	Het
Bicd1	A	G	6: 149,517,005	T725A	probably damaging	Het
Cd1d2	A	T	3: 86,988,540	I292F	probably damaging	Het
Cdk13	A	G	13: 17,719,535	V495A	probably damaging	Het
Cfd	A	T	10: 79,892,205		probably null	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Cradd	A	C	10: 95,175,873	V135G	probably benign	Het
Cry1	A	G	10: 85,143,753	C460R	probably damaging	Het
Ctu2	A	G	8: 122,480,910	E375G	probably damaging	Het
Dym	T	G	18: 75,230,165	I580S	probably damaging	Het
Eif3e	A	G	15: 43,251,547	L411P	possibly damaging	Het
Emsy	T	C	7: 98,590,775	E1091G	possibly damaging	Het
Enkur	A	G	2: 21,189,319		probably benign	Het
Fam184a	G	A	10: 53,655,079	T733M	probably damaging	Het
Frem2	G	A	3: 53,516,857	A3053V	probably benign	Het
Gbgt1	T	C	2: 28,498,423	L40P	probably damaging	Het
Gm5174	T	A	10: 86,656,508		noncoding transcript	Het
Gys2	G	T	6: 142,456,422	D230E	probably damaging	Het
Herc2	T	A	7: 56,169,018		probably null	Het
Hps3	A	T	3: 20,002,363	S815R	probably benign	Het
Igf1r	C	A	7: 68,201,962	S983R	probably damaging	Het
Itsn1	T	A	16: 91,853,768		probably benign	Het
Kcnc2	A	G	10: 112,456,526	N91D	probably damaging	Het
Kif28	C	A	1: 179,733,111	A210S	possibly damaging	Het
Klri2	T	A	6: 129,740,309	Q37L	probably damaging	Het
Lrrc38	T	A	4: 143,369,849	C243*	probably null	Het
Map3k5	T	C	10: 20,067,920	V590A	possibly damaging	Het
Mdn1	C	A	4: 32,763,306	F5135L	probably benign	Het
Megf11	G	A	9: 64,660,431	G401S	possibly damaging	Het
Mst1r	T	C	9: 107,908,348	F402L	probably damaging	Het
Ntrk3	T	C	7: 78,198,852	I759V	probably damaging	Het
Nup188	T	C	2: 30,336,924		probably benign	Het
Olfr1243	C	T	2: 89,527,937	V158I	probably benign	Het
Olfr870	T	C	9: 20,171,092	S160G	possibly damaging	Het
Prdm2	T	C	4: 143,134,899	N607S	possibly damaging	Het
Prl2a1	T	A	13: 27,806,386		probably null	Het
Serpina9	T	A	12: 103,998,264	I305F	probably damaging	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
Slc19a1	C	T	10: 77,042,486	T285I	probably benign	Het
Snap91	T	C	9: 86,792,527	T544A	possibly damaging	Het
Srgap3	A	G	6: 112,946,493	S2P	probably damaging	Het
Tcof1	A	G	18: 60,837,901	V210A	possibly damaging	Het
Tex261	A	G	6: 83,771,515	I136T	probably benign	Het
Trpa1	A	T	1: 14,903,256	F279L	probably null	Het
Ttc39b	T	C	4: 83,232,762	N532S	probably benign	Het
Ttn	T	C	2: 76,742,094	T26152A	probably damaging	Het
Ube2w	A	G	1: 16,597,959	S97P	possibly damaging	Het
Vmn1r25	A	C	6: 57,979,238	L22R	probably damaging	Het
Vmn1r64	T	C	7: 5,884,449	I32V	probably benign	Het
Vmn2r112	T	G	17: 22,601,233	M29R	possibly damaging	Het
Vmn2r71	T	A	7: 85,624,093	M705K	probably benign	Het
Vps13b	G	A	15: 35,884,597	V3139I	probably benign	Het
Zfp628	T	C	7: 4,920,831	V684A	probably benign	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
R1270:Aspg	UTSW	12	112116447	missense	probably damaging	1.00
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
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'- GGGATAAAAGATTGCCACACC -3'
(R):5'- CACTCTAGCCAGCAGGATACAG -3'

Sequencing Primer
(F):5'- CTACCGGCATCCCAGGC -3'
(R):5'- TACAGCAGGGATGGTGCC -3'

Posted On

2014-10-15