Mutagenetix > Incidental Mutation

Incidental Mutation 'R9463:Aspg'

715021

Institutional Source

Beutler Lab

Gene Symbol

Aspg

Ensembl Gene

ENSMUSG00000037686

Gene Name

asparaginase

Synonyms

A530050D06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R9463 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112073113-112093993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112089824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 454 (G454D)

Ref Sequence

ENSEMBL: ENSMUSP00000078369 (fasta)

Gene Model

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

AlphaFold

A0JNU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000079400
AA Change: G454D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078369
Gene: ENSMUSG00000037686
AA Change: G454D

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: ENSMUST00000222970

Predicted Effect

probably benign
Transcript: ENSMUST00000223184

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	C	T	14: 8,256,789 (GRCm38)	E25K	probably damaging	Het
Acss2	A	G	2: 155,392,032 (GRCm39)	Y218C	probably benign	Het
Armc8	C	T	9: 99,378,203 (GRCm39)		probably null	Het
Atp9b	T	C	18: 80,809,051 (GRCm39)	T623A		Het
Cacna1e	A	G	1: 154,357,411 (GRCm39)	L655P	probably damaging	Het
Cant1	T	A	11: 118,302,281 (GRCm39)	N12I	probably damaging	Het
Cep63	T	C	9: 102,475,382 (GRCm39)	T445A	probably benign	Het
Clstn1	A	T	4: 149,698,564 (GRCm39)	D50V	possibly damaging	Het
Cnnm2	T	A	19: 46,750,990 (GRCm39)	I260N	probably damaging	Het
Col4a4	T	C	1: 82,431,076 (GRCm39)	M1609V	unknown	Het
Dand5	A	T	8: 85,542,938 (GRCm39)	C179*	probably null	Het
Dbndd1	A	G	8: 124,233,547 (GRCm39)	L153P	probably damaging	Het
Dnhd1	A	G	7: 105,306,454 (GRCm39)	I437V	probably benign	Het
Dnhd1	T	A	7: 105,344,223 (GRCm39)	S1856T	probably benign	Het
Dpp8	T	A	9: 64,973,700 (GRCm39)	Y641*	probably null	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Efl1	C	T	7: 82,426,733 (GRCm39)	T1077M	probably damaging	Het
Eif3e	G	T	15: 43,138,709 (GRCm39)	Q83K	probably benign	Het
Firrm	A	T	1: 163,795,907 (GRCm39)	M428K	probably benign	Het
Gfm2	G	A	13: 97,286,910 (GRCm39)	A170T	probably damaging	Het
Gm14496	T	A	2: 181,642,256 (GRCm39)	H642Q	probably benign	Het
Gmip	G	A	8: 70,269,693 (GRCm39)	R596Q	possibly damaging	Het
Hook1	A	T	4: 95,910,510 (GRCm39)	Q708L	probably damaging	Het
Krtap9-3	G	A	11: 99,488,526 (GRCm39)	R119C	unknown	Het
Lnpk	A	C	2: 74,381,403 (GRCm39)		probably null	Het
Lrp1	G	T	10: 127,429,334 (GRCm39)	Y484*	probably null	Het
Lrrc8e	C	T	8: 4,285,185 (GRCm39)	P470L	probably damaging	Het
Mapre1	A	G	2: 153,606,960 (GRCm39)	N231D	probably benign	Het
Muc5b	T	A	7: 141,405,503 (GRCm39)	N937K	unknown	Het
Ndufaf7	T	C	17: 79,253,900 (GRCm39)		probably null	Het
Nlrp5	A	T	7: 23,118,225 (GRCm39)	I650F	probably benign	Het
Notch1	T	C	2: 26,359,845 (GRCm39)	D1290G	probably benign	Het
Or7g27	C	T	9: 19,250,320 (GRCm39)	A188V	possibly damaging	Het
Or8b46	T	C	9: 38,450,665 (GRCm39)	I158T	probably damaging	Het
Orc4	C	T	2: 48,826,783 (GRCm39)		probably null	Het
Plekhm2	A	G	4: 141,357,949 (GRCm39)	V664A	probably benign	Het
Pom121l2	T	G	13: 22,168,402 (GRCm39)	I891S	probably benign	Het
Prkcsh	T	C	9: 21,923,982 (GRCm39)	Y425H	probably damaging	Het
Prps1l1	A	C	12: 35,035,559 (GRCm39)	T225P	probably damaging	Het
Prr18	T	G	17: 8,560,324 (GRCm39)	V160G	probably damaging	Het
Psd2	T	A	18: 36,143,798 (GRCm39)	F701L	probably damaging	Het
Sclt1	T	C	3: 41,601,931 (GRCm39)	E593G	probably damaging	Het
Sdk1	T	C	5: 141,948,548 (GRCm39)	I631T	probably benign	Het
Sirt1	A	T	10: 63,171,487 (GRCm39)	D231E	probably benign	Het
Slc22a30	C	T	19: 8,378,259 (GRCm39)	C139Y	probably damaging	Het
Sntg1	T	A	1: 8,624,974 (GRCm39)	N274I	probably damaging	Het
Spocd1	A	G	4: 129,847,398 (GRCm39)	Q529R		Het
Trarg1	T	A	11: 76,571,098 (GRCm39)	L38Q	probably damaging	Het
Trbv3	T	A	6: 41,025,530 (GRCm39)	L40H	probably damaging	Het
Trpm6	T	C	19: 18,761,264 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Ush1g	C	A	11: 115,209,056 (GRCm39)	L379F	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn2r73	A	T	7: 85,506,795 (GRCm39)	M839K		Het
Wee1	T	C	7: 109,721,917 (GRCm39)	S121P	probably damaging	Het
Zfp608	T	C	18: 55,030,274 (GRCm39)	K1222R	probably damaging	Het

Other mutations in Aspg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Aspg	APN	12	112,089,387 (GRCm39)	missense	probably benign
IGL02199:Aspg	APN	12	112,087,426 (GRCm39)	missense	probably benign	0.39
R0704:Aspg	UTSW	12	112,080,906 (GRCm39)	missense	probably damaging	1.00
R0730:Aspg	UTSW	12	112,078,693 (GRCm39)	nonsense	probably null
R1196:Aspg	UTSW	12	112,082,958 (GRCm39)	missense	possibly damaging	0.94
R1270:Aspg	UTSW	12	112,082,881 (GRCm39)	missense	probably damaging	1.00
R1466:Aspg	UTSW	12	112,088,286 (GRCm39)	missense	probably benign	0.20
R1466:Aspg	UTSW	12	112,088,286 (GRCm39)	missense	probably benign	0.20
R1592:Aspg	UTSW	12	112,086,406 (GRCm39)	missense	probably benign	0.17
R1826:Aspg	UTSW	12	112,089,852 (GRCm39)	missense	probably damaging	0.99
R1859:Aspg	UTSW	12	112,087,606 (GRCm39)	missense	possibly damaging	0.86
R2124:Aspg	UTSW	12	112,087,608 (GRCm39)	missense	probably benign	0.15
R2154:Aspg	UTSW	12	112,087,408 (GRCm39)	missense	probably benign	0.01
R2190:Aspg	UTSW	12	112,091,322 (GRCm39)	missense	probably damaging	0.96
R2221:Aspg	UTSW	12	112,080,868 (GRCm39)	missense	probably damaging	1.00
R2223:Aspg	UTSW	12	112,080,868 (GRCm39)	missense	probably damaging	1.00
R3907:Aspg	UTSW	12	112,078,693 (GRCm39)	nonsense	probably null
R4234:Aspg	UTSW	12	112,089,750 (GRCm39)	nonsense	probably null
R4258:Aspg	UTSW	12	112,087,687 (GRCm39)	missense	probably benign	0.00
R4270:Aspg	UTSW	12	112,087,629 (GRCm39)	missense	probably damaging	1.00
R4271:Aspg	UTSW	12	112,087,629 (GRCm39)	missense	probably damaging	1.00
R5386:Aspg	UTSW	12	112,089,466 (GRCm39)	missense	probably benign	0.01
R5431:Aspg	UTSW	12	112,089,846 (GRCm39)	missense	probably benign	0.13
R5458:Aspg	UTSW	12	112,086,436 (GRCm39)	missense	probably damaging	0.99
R5941:Aspg	UTSW	12	112,079,519 (GRCm39)	missense	probably benign	0.02
R6003:Aspg	UTSW	12	112,079,476 (GRCm39)	missense	probably damaging	1.00
R6057:Aspg	UTSW	12	112,087,432 (GRCm39)	missense	probably damaging	0.96
R6928:Aspg	UTSW	12	112,093,123 (GRCm39)	missense	possibly damaging	0.52
R6979:Aspg	UTSW	12	112,087,378 (GRCm39)	missense	possibly damaging	0.77
R6998:Aspg	UTSW	12	112,078,628 (GRCm39)	missense	probably damaging	1.00
R7054:Aspg	UTSW	12	112,092,824 (GRCm39)	missense	probably damaging	0.98
R7060:Aspg	UTSW	12	112,089,387 (GRCm39)	missense	probably benign
R7124:Aspg	UTSW	12	112,089,417 (GRCm39)	missense	probably damaging	0.99
R7137:Aspg	UTSW	12	112,078,632 (GRCm39)	missense	possibly damaging	0.92
R7439:Aspg	UTSW	12	112,091,255 (GRCm39)	missense	possibly damaging	0.90
R7441:Aspg	UTSW	12	112,091,255 (GRCm39)	missense	possibly damaging	0.90
R8922:Aspg	UTSW	12	112,089,830 (GRCm39)	missense	possibly damaging	0.86
Z1176:Aspg	UTSW	12	112,079,515 (GRCm39)	missense	possibly damaging	0.58
Z1177:Aspg	UTSW	12	112,087,455 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGACCTGTGAACTCTCATCC -3'
(R):5'- TGTAGCCCTTCCAGATTGC -3'

Sequencing Primer
(F):5'- ATCCTTCCAGTCCTCTAGGTGG -3'
(R):5'- ACGGAAATATGCCTCCTTCACTG -3'

Posted On

2022-06-15