Incidental Mutation 'IGL02311:Asns'
ID287822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asns
Ensembl Gene ENSMUSG00000029752
Gene Nameasparagine synthetase
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.529) question?
Stock #IGL02311
Quality Score
Status
Chromosome6
Chromosomal Location7675169-7693254 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 7676233 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031766] [ENSMUST00000115542]
Predicted Effect probably null
Transcript: ENSMUST00000031766
SMART Domains Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752

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 null
Transcript: ENSMUST00000115542
SMART Domains Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752

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 noncoding transcript
Transcript: ENSMUST00000140097
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C A 5: 24,997,707 probably benign Het
Adam21 T G 12: 81,560,892 D32A probably benign Het
Bin3 A T 14: 70,124,217 M45L probably benign Het
Cfap44 A T 16: 44,404,771 probably benign Het
Cmya5 T C 13: 93,090,655 T2642A probably benign Het
Dbndd2 T C 2: 164,488,702 S92P possibly damaging Het
Dclre1b A C 3: 103,808,093 F30V probably damaging Het
Dock6 T C 9: 21,844,328 D200G probably damaging Het
Epb41l4b C A 4: 57,076,456 R335L probably damaging Het
Fscn1 T C 5: 142,972,010 V304A probably benign Het
Gm7008 G A 12: 40,223,386 probably benign Het
Gm8237 A G 14: 5,864,425 probably null Het
Ifih1 T C 2: 62,610,503 T440A probably damaging Het
Mepe C T 5: 104,337,705 S237F probably damaging Het
Nr4a2 T C 2: 57,111,731 I174V probably benign Het
Olfr251 C T 9: 38,377,898 Q6* probably null Het
Olfr706 A G 7: 106,885,894 Y308H probably benign Het
Orc1 G T 4: 108,599,974 V404L probably benign Het
Pcsk5 G T 19: 17,433,420 Y1869* probably null Het
Phf21b A G 15: 84,793,894 probably null Het
Pigg A G 5: 108,336,380 T631A probably benign Het
Plxnb1 A G 9: 109,101,122 N349D probably benign Het
Scaf11 T C 15: 96,418,756 S976G probably benign Het
Scn8a G T 15: 101,013,283 M861I probably damaging Het
Stau1 T C 2: 166,950,319 N433S probably damaging Het
Synrg A G 11: 84,019,804 K854R probably benign Het
Tbata T A 10: 61,179,455 C150* probably null Het
Tcn2 G A 11: 3,917,692 P417S probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Tpr G T 1: 150,398,653 D104Y probably damaging Het
Ubash3b T C 9: 41,047,037 T16A probably benign Het
Uso1 T A 5: 92,187,776 S548T probably benign Het
Vps13b T A 15: 35,709,514 V1869E probably benign Het
Vps18 T C 2: 119,290,251 C64R probably benign Het
Zic2 C A 14: 122,476,194 N173K probably damaging Het
Other mutations in Asns
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Asns APN 6 7680179 missense probably damaging 1.00
IGL00656:Asns APN 6 7680215 unclassified probably benign
IGL01534:Asns APN 6 7675397 missense probably benign 0.03
IGL01996:Asns APN 6 7682378 missense possibly damaging 0.56
IGL02058:Asns APN 6 7685184 missense probably damaging 1.00
IGL02367:Asns APN 6 7685411 splice site probably benign
IGL03263:Asns APN 6 7689404 missense probably benign 0.07
IGL03341:Asns APN 6 7682002 missense probably damaging 0.98
PIT4445001:Asns UTSW 6 7689277 missense probably damaging 1.00
R0034:Asns UTSW 6 7676299 missense probably damaging 1.00
R0034:Asns UTSW 6 7676299 missense probably damaging 1.00
R0050:Asns UTSW 6 7676019 missense probably benign 0.02
R0627:Asns UTSW 6 7675516 missense probably benign 0.05
R1075:Asns UTSW 6 7676076 nonsense probably null
R1591:Asns UTSW 6 7678007 missense probably damaging 0.97
R2047:Asns UTSW 6 7680093 missense probably damaging 0.99
R2232:Asns UTSW 6 7689316 missense possibly damaging 0.82
R2907:Asns UTSW 6 7675506 missense probably benign 0.03
R3907:Asns UTSW 6 7682270 critical splice donor site probably null
R4373:Asns UTSW 6 7677978 missense probably damaging 0.98
R4438:Asns UTSW 6 7675320 missense probably benign 0.15
R4660:Asns UTSW 6 7678012 missense probably benign 0.05
R4784:Asns UTSW 6 7678029 missense probably benign 0.12
R5655:Asns UTSW 6 7685309 missense probably benign 0.31
R5752:Asns UTSW 6 7689365 missense probably damaging 1.00
R5863:Asns UTSW 6 7675443 nonsense probably null
R5864:Asns UTSW 6 7675443 nonsense probably null
R5953:Asns UTSW 6 7682285 missense probably benign 0.00
R6773:Asns UTSW 6 7676284 missense probably benign 0.01
R6789:Asns UTSW 6 7675344 missense probably benign
R7389:Asns UTSW 6 7689291 missense probably damaging 1.00
R7524:Asns UTSW 6 7677259 synonymous probably null
R7783:Asns UTSW 6 7677978 missense probably damaging 1.00
Posted On2015-04-16