Incidental Mutation 'R2047:Asns'
ID 222088
Institutional Source Beutler Lab
Gene Symbol Asns
Ensembl Gene ENSMUSG00000029752
Gene Name asparagine synthetase
Synonyms
MMRRC Submission 040054-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R2047 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 7675169-7693209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 7680093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 341 (A341E)
Ref Sequence ENSEMBL: ENSMUSP00000111204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031766] [ENSMUST00000115542] [ENSMUST00000126303]
AlphaFold Q61024
Predicted Effect probably damaging
Transcript: ENSMUST00000031766
AA Change: A341E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
AA Change: A341E

DomainStartEndE-ValueType
Pfam:GATase_6 29 160 4.3e-21 PFAM
Pfam:GATase_7 47 166 9.1e-26 PFAM
Pfam:DUF3700 68 178 5.5e-6 PFAM
Pfam:GATase_2 91 161 3.3e-5 PFAM
Pfam:Asn_synthase 234 467 1.7e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115542
AA Change: A341E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
AA Change: A341E

DomainStartEndE-ValueType
Pfam:GATase_6 29 160 1.2e-19 PFAM
Pfam:GATase_7 47 166 4.8e-25 PFAM
Pfam:DUF3700 64 180 3.3e-6 PFAM
Pfam:Asn_synthase 234 390 2.4e-46 PFAM
Pfam:Asn_synthase 382 547 1.5e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126303
SMART Domains Protein: ENSMUSP00000115415
Gene: ENSMUSG00000029752

DomainStartEndE-ValueType
Pfam:GATase_6 28 160 1.3e-24 PFAM
Pfam:GATase_7 47 166 3.1e-29 PFAM
Pfam:DUF3700 67 180 6.3e-10 PFAM
Pfam:GATase_2 89 161 1.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140097
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a hypomophic allele exhibit structural brain abnormalities, including enlarged ventricles and reduced cortical thickness, and deficits in short- and long-term memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,747,836 (GRCm39) F52S probably damaging Het
Acot12 T C 13: 91,931,122 (GRCm39) S457P probably damaging Het
Adcy5 G A 16: 35,110,478 (GRCm39) V882M possibly damaging Het
Ahnak A G 19: 8,991,664 (GRCm39) D4316G possibly damaging Het
Aldh1l2 G A 10: 83,342,607 (GRCm39) A401V probably damaging Het
Apol7e A G 15: 77,601,810 (GRCm39) H136R probably benign Het
Arl5a A G 2: 52,302,072 (GRCm39) probably null Het
C7 A G 15: 5,075,143 (GRCm39) L183P probably damaging Het
Cacng2 C T 15: 78,003,037 (GRCm39) A19T probably damaging Het
Ccdc121rt2 A G 5: 112,598,575 (GRCm39) N374S probably benign Het
Ccr4 A G 9: 114,321,633 (GRCm39) F144S probably damaging Het
Ckap2 A G 8: 22,658,763 (GRCm39) V660A probably benign Het
Cramp1 A T 17: 25,222,189 (GRCm39) Y176* probably null Het
Dgki A G 6: 36,890,581 (GRCm39) S922P possibly damaging Het
Drd5 C T 5: 38,477,679 (GRCm39) S224L probably damaging Het
Ei24 T C 9: 36,691,459 (GRCm39) K341E probably benign Het
Eno2 A T 6: 124,744,659 (GRCm39) probably benign Het
Epb41l4a T C 18: 33,961,259 (GRCm39) N425S probably benign Het
F13b T G 1: 139,435,961 (GRCm39) C256G probably damaging Het
Gp6 A T 7: 4,376,270 (GRCm39) probably benign Het
H2-Q7 A T 17: 35,659,123 (GRCm39) R191S probably damaging Het
Ivns1abp T A 1: 151,227,382 (GRCm39) S63R possibly damaging Het
Kcnj16 A G 11: 110,915,946 (GRCm39) probably null Het
Lpcat4 T C 2: 112,075,142 (GRCm39) probably null Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Maml3 C A 3: 51,597,866 (GRCm39) R939S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Mrpl46 T A 7: 78,431,312 (GRCm39) Y82F probably damaging Het
Mthfs T A 9: 89,097,356 (GRCm39) I71N probably damaging Het
Nectin4 T C 1: 171,212,720 (GRCm39) V351A possibly damaging Het
Npas3 T C 12: 54,115,612 (GRCm39) F827L probably damaging Het
Nrp1 G A 8: 129,224,577 (GRCm39) probably benign Het
Ocln C A 13: 100,671,632 (GRCm39) A242S probably damaging Het
Or10ad1c T A 15: 98,084,920 (GRCm39) T253S probably damaging Het
Or13g1 G A 7: 85,956,012 (GRCm39) T103I probably damaging Het
Or5d37 A T 2: 87,924,237 (GRCm39) N14K probably benign Het
Pappa T C 4: 65,149,378 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,698,752 (GRCm39) T480A probably benign Het
Pycr1 A T 11: 120,532,512 (GRCm39) D168E possibly damaging Het
Rnf6 T C 5: 146,148,674 (GRCm39) T126A probably damaging Het
Slc25a39 G A 11: 102,296,657 (GRCm39) probably benign Het
Slc35f4 G T 14: 49,541,029 (GRCm39) probably benign Het
Sppl2a C T 2: 126,768,772 (GRCm39) A112T probably damaging Het
Sptbn1 A C 11: 30,088,360 (GRCm39) probably benign Het
Sqle T C 15: 59,197,907 (GRCm39) Y376H probably benign Het
Terb1 A T 8: 105,212,094 (GRCm39) Y296N probably damaging Het
Ttbk2 T C 2: 120,579,397 (GRCm39) H506R probably damaging Het
Ttn T C 2: 76,737,879 (GRCm39) D4220G probably benign Het
Tub A G 7: 108,625,939 (GRCm39) D230G probably benign Het
Ube2d3 T A 3: 135,170,967 (GRCm39) I137K probably benign Het
Vldlr G T 19: 27,212,238 (GRCm39) C84F probably damaging Het
Vmn1r54 A T 6: 90,246,970 (GRCm39) I295F probably damaging Het
Vmn2r56 A G 7: 12,466,918 (GRCm39) S39P probably damaging Het
Zfp358 A G 8: 3,545,934 (GRCm39) H172R probably damaging Het
Zfp619 T C 7: 39,187,062 (GRCm39) C1031R probably damaging Het
Zfp777 A G 6: 48,021,280 (GRCm39) I114T probably benign Het
Other mutations in Asns
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Asns APN 6 7,680,179 (GRCm39) missense probably damaging 1.00
IGL00656:Asns APN 6 7,680,215 (GRCm39) unclassified probably benign
IGL01534:Asns APN 6 7,675,397 (GRCm39) missense probably benign 0.03
IGL01996:Asns APN 6 7,682,378 (GRCm39) missense possibly damaging 0.56
IGL02058:Asns APN 6 7,685,184 (GRCm39) missense probably damaging 1.00
IGL02311:Asns APN 6 7,676,233 (GRCm39) critical splice donor site probably null
IGL02367:Asns APN 6 7,685,411 (GRCm39) splice site probably benign
IGL03263:Asns APN 6 7,689,404 (GRCm39) missense probably benign 0.07
IGL03341:Asns APN 6 7,682,002 (GRCm39) missense probably damaging 0.98
PIT4445001:Asns UTSW 6 7,689,277 (GRCm39) missense probably damaging 1.00
R0034:Asns UTSW 6 7,676,299 (GRCm39) missense probably damaging 1.00
R0034:Asns UTSW 6 7,676,299 (GRCm39) missense probably damaging 1.00
R0050:Asns UTSW 6 7,676,019 (GRCm39) missense probably benign 0.02
R0627:Asns UTSW 6 7,675,516 (GRCm39) missense probably benign 0.05
R1075:Asns UTSW 6 7,676,076 (GRCm39) nonsense probably null
R1591:Asns UTSW 6 7,678,007 (GRCm39) missense probably damaging 0.97
R2232:Asns UTSW 6 7,689,316 (GRCm39) missense possibly damaging 0.82
R2907:Asns UTSW 6 7,675,506 (GRCm39) missense probably benign 0.03
R3907:Asns UTSW 6 7,682,270 (GRCm39) critical splice donor site probably null
R4373:Asns UTSW 6 7,677,978 (GRCm39) missense probably damaging 0.98
R4438:Asns UTSW 6 7,675,320 (GRCm39) missense probably benign 0.15
R4660:Asns UTSW 6 7,678,012 (GRCm39) missense probably benign 0.05
R4784:Asns UTSW 6 7,678,029 (GRCm39) missense probably benign 0.12
R5655:Asns UTSW 6 7,685,309 (GRCm39) missense probably benign 0.31
R5752:Asns UTSW 6 7,689,365 (GRCm39) missense probably damaging 1.00
R5863:Asns UTSW 6 7,675,443 (GRCm39) nonsense probably null
R5864:Asns UTSW 6 7,675,443 (GRCm39) nonsense probably null
R5953:Asns UTSW 6 7,682,285 (GRCm39) missense probably benign 0.00
R6773:Asns UTSW 6 7,676,284 (GRCm39) missense probably benign 0.01
R6789:Asns UTSW 6 7,675,344 (GRCm39) missense probably benign
R7389:Asns UTSW 6 7,689,291 (GRCm39) missense probably damaging 1.00
R7524:Asns UTSW 6 7,677,259 (GRCm39) splice site probably null
R7783:Asns UTSW 6 7,677,978 (GRCm39) missense probably damaging 1.00
R7949:Asns UTSW 6 7,685,328 (GRCm39) missense probably damaging 0.97
R8722:Asns UTSW 6 7,676,085 (GRCm39) missense probably damaging 1.00
R9405:Asns UTSW 6 7,689,283 (GRCm39) missense probably damaging 0.99
R9663:Asns UTSW 6 7,680,132 (GRCm39) missense probably damaging 1.00
R9697:Asns UTSW 6 7,689,268 (GRCm39) missense probably damaging 1.00
R9798:Asns UTSW 6 7,689,395 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TTAAGCACTTCCTCCAGTCG -3'
(R):5'- TGTTTACCTTGAGAGGAACTGGC -3'

Sequencing Primer
(F):5'- TTCCTCCAGTCGAAAGAAATTCAGGG -3'
(R):5'- GAGAGGAACTGGCCTGTTTC -3'
Posted On 2014-08-25