Mutagenetix > Incidental Mutation

Incidental Mutation 'R2221:Aspg'

241512

Institutional Source

Beutler Lab

Gene Symbol

Aspg

Ensembl Gene

ENSMUSG00000037686

Gene Name

asparaginase

Synonyms

A530050D06Rik

MMRRC Submission

040223-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R2221 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112073113-112093993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112080868 bp (GRCm39)

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]

AlphaFold

A0JNU3

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
Adamtsl1	A	C	4: 86,306,762 (GRCm39)	D1392A	probably benign	Het
Afdn	T	C	17: 14,103,999 (GRCm39)		probably benign	Het
Aph1b	A	T	9: 66,691,921 (GRCm39)	M121K	probably damaging	Het
Bicd1	A	G	6: 149,418,503 (GRCm39)	T725A	probably damaging	Het
Cd1d2	A	T	3: 86,895,847 (GRCm39)	I292F	probably damaging	Het
Cdcp3	A	T	7: 130,849,186 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,120 (GRCm39)	V495A	probably damaging	Het
Cfd	A	T	10: 79,728,039 (GRCm39)		probably null	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cradd	A	C	10: 95,011,735 (GRCm39)	V135G	probably benign	Het
Cry1	A	G	10: 84,979,617 (GRCm39)	C460R	probably damaging	Het
Ctu2	A	G	8: 123,207,649 (GRCm39)	E375G	probably damaging	Het
Dym	T	G	18: 75,363,236 (GRCm39)	I580S	probably damaging	Het
Eif3e	A	G	15: 43,114,943 (GRCm39)	L411P	possibly damaging	Het
Emsy	T	C	7: 98,239,982 (GRCm39)	E1091G	possibly damaging	Het
Enkur	A	G	2: 21,194,130 (GRCm39)		probably benign	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Frem2	G	A	3: 53,424,278 (GRCm39)	A3053V	probably benign	Het
Gbgt1	T	C	2: 28,388,435 (GRCm39)	L40P	probably damaging	Het
Gm5174	T	A	10: 86,492,372 (GRCm39)		noncoding transcript	Het
Gys2	G	T	6: 142,402,148 (GRCm39)	D230E	probably damaging	Het
Herc2	T	A	7: 55,818,766 (GRCm39)		probably null	Het
Hps3	A	T	3: 20,056,527 (GRCm39)	S815R	probably benign	Het
Igf1r	C	A	7: 67,851,710 (GRCm39)	S983R	probably damaging	Het
Itsn1	T	A	16: 91,650,656 (GRCm39)		probably benign	Het
Kcnc2	A	G	10: 112,292,431 (GRCm39)	N91D	probably damaging	Het
Kif28	C	A	1: 179,560,676 (GRCm39)	A210S	possibly damaging	Het
Klri2	T	A	6: 129,717,272 (GRCm39)	Q37L	probably damaging	Het
Lrrc38	T	A	4: 143,096,419 (GRCm39)	C243*	probably null	Het
Map3k5	T	C	10: 19,943,666 (GRCm39)	V590A	possibly damaging	Het
Mdn1	C	A	4: 32,763,306 (GRCm39)	F5135L	probably benign	Het
Megf11	G	A	9: 64,567,713 (GRCm39)	G401S	possibly damaging	Het
Mst1r	T	C	9: 107,785,547 (GRCm39)	F402L	probably damaging	Het
Ntrk3	T	C	7: 77,848,600 (GRCm39)	I759V	probably damaging	Het
Nup188	T	C	2: 30,226,936 (GRCm39)		probably benign	Het
Or4a71	C	T	2: 89,358,281 (GRCm39)	V158I	probably benign	Het
Or8b12i	T	C	9: 20,082,388 (GRCm39)	S160G	possibly damaging	Het
Prdm2	T	C	4: 142,861,469 (GRCm39)	N607S	possibly damaging	Het
Prl2a1	T	A	13: 27,990,369 (GRCm39)		probably null	Het
Serpina9	T	A	12: 103,964,523 (GRCm39)	I305F	probably damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc19a1	C	T	10: 76,878,320 (GRCm39)	T285I	probably benign	Het
Snap91	T	C	9: 86,674,580 (GRCm39)	T544A	possibly damaging	Het
Srgap3	A	G	6: 112,923,454 (GRCm39)	S2P	probably damaging	Het
Tcof1	A	G	18: 60,970,973 (GRCm39)	V210A	possibly damaging	Het
Tex261	A	G	6: 83,748,497 (GRCm39)	I136T	probably benign	Het
Trpa1	A	T	1: 14,973,480 (GRCm39)	F279L	probably null	Het
Ttc39b	T	C	4: 83,150,999 (GRCm39)	N532S	probably benign	Het
Ttn	T	C	2: 76,572,438 (GRCm39)	T26152A	probably damaging	Het
Ube2w	A	G	1: 16,668,183 (GRCm39)	S97P	possibly damaging	Het
Vmn1r25	A	C	6: 57,956,223 (GRCm39)	L22R	probably damaging	Het
Vmn1r64	T	C	7: 5,887,448 (GRCm39)	I32V	probably benign	Het
Vmn2r112	T	G	17: 22,820,214 (GRCm39)	M29R	possibly damaging	Het
Vmn2r71	T	A	7: 85,273,301 (GRCm39)	M705K	probably benign	Het
Vps13b	G	A	15: 35,884,743 (GRCm39)	V3139I	probably benign	Het
Zfp628	T	C	7: 4,923,830 (GRCm39)	V684A	probably benign	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
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
R9463:Aspg	UTSW	12	112,089,824 (GRCm39)	missense	probably damaging	1.00
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'- GGGATAAAAGATTGCCACACC -3'
(R):5'- CACTCTAGCCAGCAGGATACAG -3'

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

Posted On

2014-10-15