Mutagenetix > Incidental Mutations

Incidental Mutation 'R7137:Aspg'

553142

Institutional Source

Beutler Lab

Gene Symbol

Aspg

Ensembl Gene

ENSMUSG00000037686

Gene Name

asparaginase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R7137 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112106679-112127559 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112112198 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

Ref Sequence

ENSEMBL: ENSMUSP00000078369 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079400
AA Change: V30A

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078369
Gene: ENSMUSG00000037686
AA Change: V30A

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: ENSMUST00000223184

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,677,985	S1423P	possibly damaging	Het
Acvr1c	A	G	2: 58,283,387		probably null	Het
Adgrf5	A	G	17: 43,450,897	K1161R	probably damaging	Het
Arhgap32	T	G	9: 32,151,936	D80E	probably benign	Het
Bcl2a1d	T	C	9: 88,731,478	D81G	probably damaging	Het
Cep170b	T	C	12: 112,735,167	V160A	probably benign	Het
Ces1c	T	C	8: 93,130,842	Y37C	probably benign	Het
Cntnap5a	T	C	1: 116,089,376	L233P	probably damaging	Het
Crem	C	A	18: 3,273,459	A245S	possibly damaging	Het
Cyp2d12	C	T	15: 82,557,821	A280V	probably benign	Het
Dnah2	C	T	11: 69,491,555	G1243D	probably damaging	Het
Emcn	T	G	3: 137,403,991	N131K	probably damaging	Het
Fat3	A	T	9: 15,997,148	D2519E	probably damaging	Het
Fibin	T	A	2: 110,362,656	D47V	probably damaging	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Gimap8	C	A	6: 48,650,253	L54I	probably damaging	Het
Gm20481	A	G	17: 34,970,095	Y27C	unknown	Het
Gm21319	A	T	12: 87,773,546	L81Q	possibly damaging	Het
Grin1	T	G	2: 25,313,538	M154L	probably benign	Het
Ighv8-13	A	G	12: 115,765,577	L20P	probably damaging	Het
Insc	G	A	7: 114,811,615	V236I	probably benign	Het
Lrrk1	A	G	7: 66,285,279	F1031L	probably benign	Het
Man2a2	C	A	7: 80,359,751	R785L	probably benign	Het
Mcur1	C	A	13: 43,544,455		probably null	Het
Med12l	A	C	3: 59,258,254	R1464S	probably damaging	Het
Mycbp2	A	T	14: 103,282,679	M767K	possibly damaging	Het
Naalad2	T	C	9: 18,323,487	I762V	probably benign	Het
Nfkbid	A	G	7: 30,426,256	T357A	possibly damaging	Het
Pcdh17	A	G	14: 84,533,549	R1156G	possibly damaging	Het
Pcdhb1	T	C	18: 37,267,392	S799P	possibly damaging	Het
Pde3a	A	T	6: 141,498,746	E1093D	probably benign	Het
Plcg1	T	C	2: 160,753,926	Y572H	possibly damaging	Het
Plxna4	A	G	6: 32,517,264	L139P	probably damaging	Het
Psma1	A	G	7: 114,274,448	Y6H	probably damaging	Het
Psmd2	A	G	16: 20,652,627	E76G	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Pyy	T	G	11: 102,107,273	D27A	possibly damaging	Het
Slc22a2	A	G	17: 12,584,341	T21A	probably benign	Het
Slc25a2	T	C	18: 37,638,147	I110V	probably benign	Het
Sult1c2	A	C	17: 53,838,394	W85G	probably damaging	Het
Svs1	A	G	6: 48,990,149	Y677C	probably damaging	Het
Syt12	C	T	19: 4,453,950	D218N	probably damaging	Het
Tln1	C	T	4: 43,540,616	V1462M	probably damaging	Het
Tor1aip2	T	A	1: 156,051,976	N33K	possibly damaging	Het
Usp17lb	C	A	7: 104,841,591	W43L	probably benign	Het
Vmn1r76	A	G	7: 11,930,685	Y201H	possibly damaging	Het
Wnk1	C	A	6: 120,038,212		probably benign	Het
Wrnip1	A	G	13: 32,802,749	D171G	probably benign	Het
Zar1	T	A	5: 72,580,816	N81I	probably damaging	Het
Zbtb45	T	C	7: 13,007,156	T392A	probably benign	Het
Zfp445	T	C	9: 122,854,778	E272G	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
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
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
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'- GAATGCCAAAGCTTCCAGATG -3'
(R):5'- CATGCTATCAACCCTAGGCCAG -3'

Sequencing Primer
(F):5'- TGAAACTCTTACCTAAGCTACCTGGG -3'
(R):5'- TAGGCCAGCCGCACATC -3'

Posted On

2019-05-15