Incidental Mutation 'IGL01747:Asnsd1'
ID153038
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: 0.165) question?
Stock #IGL01747
Quality Score
Status
Chromosome1
Chromosomal Location53344617-53352752 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 53348095 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 124 (Y124*)
Ref Sequence ENSEMBL: ENSMUSP00000139404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027264] [ENSMUST00000123519] [ENSMUST00000144660] [ENSMUST00000147021] [ENSMUST00000154402]
Predicted Effect probably null
Transcript: ENSMUST00000027264
AA Change: Y124*
SMART Domains Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
AA Change: Y124*

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 null
Transcript: ENSMUST00000144660
AA Change: Y124*
SMART Domains Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
AA Change: Y124*

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A G 13: 54,556,525 probably null Het
Abca14 A G 7: 120,278,087 N986S probably benign Het
Adamts17 G A 7: 67,052,011 G702D probably damaging Het
Aox3 G A 1: 58,159,658 V671M probably damaging Het
Astn2 A T 4: 65,794,618 M595K probably benign Het
Col2a1 T C 15: 97,991,392 probably benign Het
Dhrs2 A T 14: 55,234,663 I4L probably benign Het
Fbxo4 A T 15: 3,965,755 L369* probably null Het
Gpbp1 G A 13: 111,453,050 R129C probably damaging Het
Lrp1b T A 2: 40,860,685 I2956L probably damaging Het
Myo16 C T 8: 10,604,877 T1843I probably damaging Het
Olfr1087 T C 2: 86,690,701 I91M possibly damaging Het
Olfr342 T C 2: 36,527,832 L140P probably damaging Het
Pcdhb2 T G 18: 37,296,303 V86G probably damaging Het
Pskh1 T C 8: 105,913,204 M172T probably damaging Het
Slc38a10 T C 11: 120,134,774 probably benign Het
Spry2 C T 14: 105,893,054 D233N probably damaging Het
Tmem163 T A 1: 127,668,720 R84W probably damaging Het
Trappc11 T C 8: 47,519,621 I306V probably benign Het
Virma T C 4: 11,526,877 L1092P probably damaging Het
Vmn2r98 A G 17: 19,066,440 Y400C probably damaging 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
IGL02274:Asnsd1 APN 1 53347575 missense probably benign
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 unclassified 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 unclassified 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
Posted On2014-02-04