Incidental Mutation 'R5832:Asnsd1'
ID 449338
Institutional Source Beutler Lab
Gene Symbol Asnsd1
Ensembl Gene ENSMUSG00000026095
Gene Name asparagine synthetase domain containing 1
Synonyms 2210409M21Rik
MMRRC Submission 044054-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R5832 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 53383776-53391911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53386634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 331 (D331G)
Ref Sequence ENSEMBL: ENSMUSP00000139404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027264] [ENSMUST00000123519] [ENSMUST00000144660] [ENSMUST00000147021] [ENSMUST00000154402]
AlphaFold Q8BFS9
Predicted Effect probably damaging
Transcript: ENSMUST00000027264
AA Change: D331G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
AA Change: D331G

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 damaging
Transcript: ENSMUST00000144660
AA Change: D331G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
AA Change: D331G

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Adgrv1 G A 13: 81,251,421 (GRCm39) S6232F possibly damaging Het
Alox12 T C 11: 70,144,106 (GRCm39) E129G probably damaging Het
Anxa13 C A 15: 58,205,389 (GRCm39) noncoding transcript Het
Arfgef3 C T 10: 18,506,168 (GRCm39) G878D probably damaging Het
Crisp1 A G 17: 40,612,208 (GRCm39) probably null Het
Eml5 T C 12: 98,842,447 (GRCm39) N217S probably benign Het
Fat1 A T 8: 45,470,460 (GRCm39) Y1463F possibly damaging Het
Fhod3 T C 18: 25,223,752 (GRCm39) W1033R probably damaging Het
Galr2 T A 11: 116,172,457 (GRCm39) L49Q probably damaging Het
Gstm5 T C 3: 107,804,853 (GRCm39) V115A probably benign Het
Gtpbp2 C T 17: 46,478,788 (GRCm39) T535I probably damaging Het
Hk1 T C 10: 62,128,144 (GRCm39) E326G probably benign Het
Igfn1 A G 1: 135,902,533 (GRCm39) V388A probably damaging Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Kitl C A 10: 99,915,882 (GRCm39) P137H probably damaging Het
Lamp3 A T 16: 19,520,070 (GRCm39) Y38N probably damaging Het
Lmo7 A T 14: 102,121,649 (GRCm39) N5I probably damaging Het
Mc3r T A 2: 172,091,350 (GRCm39) C191S probably benign Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mybpc3 A G 2: 90,949,520 (GRCm39) probably null Het
Nav2 A T 7: 49,197,817 (GRCm39) probably null Het
Patz1 C T 11: 3,256,277 (GRCm39) P521L probably benign Het
Pramel14 A G 4: 143,718,532 (GRCm39) S304P probably damaging Het
Prkcd T C 14: 30,327,778 (GRCm39) T103A probably damaging Het
Pttg1ip T C 10: 77,419,859 (GRCm39) probably null Het
Rcbtb2 C A 14: 73,404,262 (GRCm39) Q85K possibly damaging Het
Rdh16f1 T A 10: 127,624,618 (GRCm39) V152E probably damaging Het
Rsph4a A G 10: 33,785,498 (GRCm39) I470V probably benign Het
Sarnp T C 10: 128,684,181 (GRCm39) probably null Het
Slc39a6 C A 18: 24,734,669 (GRCm39) V7L possibly damaging Het
Slco1a4 A G 6: 141,765,270 (GRCm39) I324T probably benign Het
Spata31d1a A T 13: 59,849,380 (GRCm39) V916E probably damaging Het
Srgap1 T G 10: 121,676,819 (GRCm39) T392P probably damaging Het
Tbc1d20 A T 2: 152,153,282 (GRCm39) M271L possibly damaging Het
Tbc1d22b T C 17: 29,789,621 (GRCm39) I161T possibly damaging Het
Tcof1 G T 18: 60,952,611 (GRCm39) N918K unknown Het
Tnr A G 1: 159,713,692 (GRCm39) T707A probably benign Het
Trim66 A G 7: 109,054,409 (GRCm39) F1267S probably damaging Het
Trpm6 A G 19: 18,764,183 (GRCm39) H263R possibly damaging Het
Tshz2 T A 2: 169,725,965 (GRCm39) V187D possibly damaging Het
Ube2f T G 1: 91,213,046 (GRCm39) V176G possibly damaging Het
Vmn2r109 C T 17: 20,761,318 (GRCm39) A680T probably benign Het
Vmn2r77 T A 7: 86,460,670 (GRCm39) C665* probably null Het
Zfp954 A G 7: 7,118,389 (GRCm39) V385A probably damaging Het
Other mutations in Asnsd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Asnsd1 APN 1 53,385,787 (GRCm39) missense probably damaging 1.00
IGL00595:Asnsd1 APN 1 53,386,647 (GRCm39) missense probably damaging 1.00
IGL00705:Asnsd1 APN 1 53,387,610 (GRCm39) missense probably damaging 1.00
IGL01089:Asnsd1 APN 1 53,387,436 (GRCm39) missense probably damaging 1.00
IGL01747:Asnsd1 APN 1 53,387,254 (GRCm39) nonsense probably null
IGL02274:Asnsd1 APN 1 53,386,734 (GRCm39) missense probably benign
R2021:Asnsd1 UTSW 1 53,386,386 (GRCm39) missense possibly damaging 0.53
R2022:Asnsd1 UTSW 1 53,386,386 (GRCm39) missense possibly damaging 0.53
R2126:Asnsd1 UTSW 1 53,386,476 (GRCm39) missense probably benign 0.00
R2174:Asnsd1 UTSW 1 53,386,760 (GRCm39) missense probably benign 0.44
R4120:Asnsd1 UTSW 1 53,387,154 (GRCm39) missense probably damaging 1.00
R4435:Asnsd1 UTSW 1 53,387,232 (GRCm39) splice site probably null
R4464:Asnsd1 UTSW 1 53,391,686 (GRCm39) splice site probably null
R4499:Asnsd1 UTSW 1 53,387,129 (GRCm39) missense probably benign
R4622:Asnsd1 UTSW 1 53,387,378 (GRCm39) missense probably benign 0.13
R5090:Asnsd1 UTSW 1 53,391,563 (GRCm39) unclassified probably benign
R5891:Asnsd1 UTSW 1 53,387,136 (GRCm39) missense probably benign 0.00
R6215:Asnsd1 UTSW 1 53,387,187 (GRCm39) splice site probably null
R6217:Asnsd1 UTSW 1 53,387,187 (GRCm39) missense probably benign 0.02
R6353:Asnsd1 UTSW 1 53,386,938 (GRCm39) missense probably benign
R6405:Asnsd1 UTSW 1 53,387,154 (GRCm39) missense probably damaging 1.00
R6913:Asnsd1 UTSW 1 53,387,390 (GRCm39) missense probably damaging 0.99
R7217:Asnsd1 UTSW 1 53,387,352 (GRCm39) missense probably damaging 1.00
R7570:Asnsd1 UTSW 1 53,387,417 (GRCm39) missense probably damaging 1.00
R7589:Asnsd1 UTSW 1 53,387,126 (GRCm39) missense probably benign 0.00
R7716:Asnsd1 UTSW 1 53,386,902 (GRCm39) missense probably benign 0.05
R8314:Asnsd1 UTSW 1 53,385,814 (GRCm39) missense probably damaging 0.98
R8351:Asnsd1 UTSW 1 53,386,172 (GRCm39) critical splice donor site probably null
R8990:Asnsd1 UTSW 1 53,385,901 (GRCm39) missense probably damaging 1.00
R9262:Asnsd1 UTSW 1 53,383,934 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCATCTGCAGCAGGACTCTGAG -3'
(R):5'- ACAGTTCTAGCACTTCAGGTAC -3'

Sequencing Primer
(F):5'- AGGACTCTGAGAGGACTCTTC -3'
(R):5'- CAGTTCTAGCACTTCAGGTACAAGAG -3'
Posted On 2016-12-20