Incidental Mutation 'IGL01534:Asns'
ID89901
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 non essential (E-score: 0.385) question?
Stock #IGL01534
Quality Score
Status
Chromosome6
Chromosomal Location7675169-7693254 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 7675397 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 535 (H535L)
Ref Sequence ENSEMBL: ENSMUSP00000111204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031766] [ENSMUST00000115542]
Predicted Effect probably benign
Transcript: ENSMUST00000031766
AA Change: H535L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
AA Change: H535L

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 benign
Transcript: ENSMUST00000115542
AA Change: H535L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
AA Change: H535L

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,081 L111P possibly damaging Het
Adck5 C A 15: 76,594,726 H383Q probably damaging Het
Atf5 A G 7: 44,813,038 S221P probably damaging Het
Atr T C 9: 95,865,546 Y294H probably damaging Het
B230307C23Rik A G 16: 98,008,761 probably benign Het
C1qtnf6 C T 15: 78,525,216 E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 probably benign Het
Cd48 C A 1: 171,695,739 P50Q possibly damaging Het
Cnnm4 T C 1: 36,499,515 Y593H probably benign Het
Col27a1 G A 4: 63,225,782 R569Q probably benign Het
Cubn A T 2: 13,465,933 C549* probably null Het
Dsg1a T A 18: 20,340,996 M1042K probably benign Het
Dzip1 T A 14: 118,877,239 T835S probably damaging Het
Eif3c T C 7: 126,557,695 T389A probably benign Het
Erlin2 G T 8: 27,031,957 E177* probably null Het
Fam172a T A 13: 77,999,711 probably benign Het
Gabrb1 T A 5: 71,869,429 S91T possibly damaging Het
Grik3 T C 4: 125,686,190 V576A probably damaging Het
Gtpbp2 T A 17: 46,163,504 Y70N probably damaging Het
Idh3a T A 9: 54,601,222 probably benign Het
Ift74 G A 4: 94,679,944 R406H probably benign Het
Kcna7 C A 7: 45,406,511 N50K probably damaging Het
Kcnd2 T C 6: 21,726,145 S546P probably benign Het
Lrp4 G A 2: 91,473,641 D134N probably damaging Het
Mcm2 A G 6: 88,887,718 probably null Het
Nlrp12 T C 7: 3,239,833 Y683C probably benign Het
Olfr1104 A G 2: 87,021,884 I220T probably damaging Het
Olfr114 A T 17: 37,590,072 Y94N possibly damaging Het
Olfr1499 T A 19: 13,815,302 H96L probably benign Het
Olfr1502 A T 19: 13,861,919 N42I probably damaging Het
Olfr710 T A 7: 106,944,339 I221F probably damaging Het
P2rx7 A C 5: 122,676,698 I409L probably damaging Het
Pde10a A G 17: 8,944,970 N191S probably damaging Het
Rabggtb A G 3: 153,910,259 probably null Het
Rgs4 A T 1: 169,744,516 C71* probably null Het
Rnase10 T C 14: 51,007,979 F5L probably benign Het
Scn11a T A 9: 119,780,822 T987S probably benign Het
Shox2 A C 3: 66,978,363 D126E probably benign Het
Slc12a1 A G 2: 125,217,910 D910G probably damaging Het
Slc15a1 C T 14: 121,464,952 C594Y possibly damaging Het
Spock2 C T 10: 60,127,061 probably benign Het
Togaram1 G T 12: 64,966,547 D191Y probably damaging Het
Triml2 T C 8: 43,187,623 V172A probably benign Het
Tubb3 C T 8: 123,420,966 R213C probably benign Het
Vmn2r4 A T 3: 64,406,423 V379E probably damaging Het
Zfp446 C T 7: 12,979,566 P153L probably damaging Het
Zfp608 A T 18: 54,898,932 N645K 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
IGL01996:Asns APN 6 7682378 missense possibly damaging 0.56
IGL02058:Asns APN 6 7685184 missense probably damaging 1.00
IGL02311:Asns APN 6 7676233 critical splice donor site probably null
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 On2013-12-03