Incidental Mutation 'IGL02274:Asnsd1'
ID287269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asnsd1
Ensembl Gene ENSMUSG00000026095
Gene Nameasparagine synthetase domain containing 1
Synonyms2210409M21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.191) question?
Stock #IGL02274
Quality Score
Status
Chromosome1
Chromosomal Location53344617-53352752 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53347575 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 298 (I298V)
Ref Sequence ENSEMBL: ENSMUSP00000139404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027264] [ENSMUST00000123519] [ENSMUST00000144660] [ENSMUST00000147021] [ENSMUST00000154402]
Predicted Effect probably benign
Transcript: ENSMUST00000027264
AA Change: I298V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
AA Change: I298V

DomainStartEndE-ValueType
Pfam:GATase_7 59 162 2.4e-8 PFAM
Pfam:Asn_synthase 305 388 6.9e-7 PFAM
Pfam:Asn_synthase 505 619 2.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123519
SMART Domains Protein: ENSMUSP00000139025
Gene: ENSMUSG00000026095

DomainStartEndE-ValueType
Pfam:Asn_synthase 2 120 4.5e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136468
Predicted Effect probably benign
Transcript: ENSMUST00000144660
AA Change: I298V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
AA Change: I298V

DomainStartEndE-ValueType
Pfam:GATase_7 59 162 1.4e-8 PFAM
Pfam:Asn_synthase 304 565 5.6e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147021
Predicted Effect probably benign
Transcript: ENSMUST00000154402
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 A G 8: 14,947,205 D48G probably damaging Het
Cacna2d3 G T 14: 28,956,870 probably null Het
Cbs T C 17: 31,625,948 probably null Het
Ccm2 C A 11: 6,590,808 T216K probably damaging Het
D430042O09Rik A G 7: 125,770,570 probably null Het
Galc C T 12: 98,254,214 W131* probably null Het
Gemin5 T C 11: 58,156,795 R318G possibly damaging Het
Gsta3 T G 1: 21,249,788 V6G possibly damaging Het
Hdlbp A T 1: 93,408,507 probably null Het
Igkv13-55-1 T G 6: 69,600,148 noncoding transcript Het
Il17rd A G 14: 27,099,910 Y387C probably damaging Het
Kmt2e C T 5: 23,500,760 T1344I probably benign Het
L3mbtl4 A C 17: 68,764,584 H502P probably benign Het
Lrig1 A T 6: 94,663,938 N95K possibly damaging Het
Neurl2 G T 2: 164,833,092 R117S probably damaging Het
Nos1 G A 5: 117,897,780 A449T probably damaging Het
Noxa1 A T 2: 25,085,755 V435E probably benign Het
Parp9 C T 16: 35,947,947 R166W probably damaging Het
Pdzd2 A G 15: 12,445,649 I158T probably damaging Het
Pip5k1c T C 10: 81,306,384 Y143H probably damaging Het
Qrfpr A G 3: 36,222,136 V35A probably damaging Het
Rab3gap1 T G 1: 127,939,080 S881A probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Scai G A 2: 39,102,317 probably benign Het
Skiv2l T A 17: 34,845,863 I418F probably damaging Het
Tenm4 A C 7: 96,854,734 H1300P probably damaging Het
Tmppe A G 9: 114,405,431 H266R probably benign Het
Wdr11 A T 7: 129,631,172 probably null Het
Xirp2 A G 2: 67,508,651 E412G probably benign Het
Zan A G 5: 137,421,167 V2910A unknown Het
Other mutations in Asnsd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Asnsd1 APN 1 53346628 missense probably damaging 1.00
IGL00595:Asnsd1 APN 1 53347488 missense probably damaging 1.00
IGL00705:Asnsd1 APN 1 53348451 missense probably damaging 1.00
IGL01089:Asnsd1 APN 1 53348277 missense probably damaging 1.00
IGL01747:Asnsd1 APN 1 53348095 nonsense probably null
R2021:Asnsd1 UTSW 1 53347227 missense possibly damaging 0.53
R2022:Asnsd1 UTSW 1 53347227 missense possibly damaging 0.53
R2126:Asnsd1 UTSW 1 53347317 missense probably benign 0.00
R2174:Asnsd1 UTSW 1 53347601 missense probably benign 0.44
R4120:Asnsd1 UTSW 1 53347995 missense probably damaging 1.00
R4435:Asnsd1 UTSW 1 53348073 splice site probably null
R4464:Asnsd1 UTSW 1 53352527 splice site probably null
R4499:Asnsd1 UTSW 1 53347970 missense probably benign
R4622:Asnsd1 UTSW 1 53348219 missense probably benign 0.13
R5090:Asnsd1 UTSW 1 53352404 unclassified probably benign
R5832:Asnsd1 UTSW 1 53347475 missense probably damaging 1.00
R5891:Asnsd1 UTSW 1 53347977 missense probably benign 0.00
R6215:Asnsd1 UTSW 1 53348028 splice site probably null
R6217:Asnsd1 UTSW 1 53348028 missense probably benign 0.02
R6353:Asnsd1 UTSW 1 53347779 missense probably benign
R6405:Asnsd1 UTSW 1 53347995 missense probably damaging 1.00
R6913:Asnsd1 UTSW 1 53348231 missense probably damaging 0.99
R7217:Asnsd1 UTSW 1 53348193 missense probably damaging 1.00
R7570:Asnsd1 UTSW 1 53348258 missense probably damaging 1.00
R7589:Asnsd1 UTSW 1 53347967 missense probably benign 0.00
R7716:Asnsd1 UTSW 1 53347743 missense probably benign 0.05
R8314:Asnsd1 UTSW 1 53346655 missense probably damaging 0.98
R8351:Asnsd1 UTSW 1 53347013 critical splice donor site probably null
Posted On2015-04-16