Incidental Mutation 'R4499:Asnsd1'
ID 331728
Institutional Source Beutler Lab
Gene Symbol Asnsd1
Ensembl Gene ENSMUSG00000026095
Gene Name asparagine synthetase domain containing 1
Synonyms 2210409M21Rik
MMRRC Submission 041752-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R4499 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 53383776-53391911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53387129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 166 (V166A)
Ref Sequence ENSEMBL: ENSMUSP00000139404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027264] [ENSMUST00000123519] [ENSMUST00000144660] [ENSMUST00000147021] [ENSMUST00000154402]
AlphaFold Q8BFS9
Predicted Effect probably benign
Transcript: ENSMUST00000027264
AA Change: V166A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
AA Change: V166A

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: V166A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
AA Change: V166A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (47/51)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,464,646 (GRCm39) W948R possibly damaging Het
Ache A C 5: 137,290,194 (GRCm39) M508L probably damaging Het
Adgrb2 A T 4: 129,886,454 (GRCm39) E198V probably damaging Het
Adgrl4 A G 3: 151,216,422 (GRCm39) N535S possibly damaging Het
Agbl3 T C 6: 34,834,533 (GRCm39) S906P probably benign Het
Akna T C 4: 63,313,278 (GRCm39) T282A probably benign Het
Arfgef2 G A 2: 166,727,734 (GRCm39) V1561M probably damaging Het
Arfgef3 T C 10: 18,484,091 (GRCm39) D1388G possibly damaging Het
Bank1 T C 3: 135,990,004 (GRCm39) I29V probably benign Het
Bpifb5 A T 2: 154,082,678 (GRCm39) I484F possibly damaging Het
Camta2 T C 11: 70,565,512 (GRCm39) E788G probably damaging Het
Ccdc18 T G 5: 108,376,826 (GRCm39) S1422R possibly damaging Het
Cdc42bpg C T 19: 6,370,585 (GRCm39) P1226L possibly damaging Het
Cep126 T C 9: 8,101,589 (GRCm39) N315S possibly damaging Het
Dcaf4 T A 12: 83,586,134 (GRCm39) L367Q probably damaging Het
Dcc A T 18: 71,680,388 (GRCm39) V616D probably benign Het
Dennd4a G A 9: 64,817,405 (GRCm39) D1680N possibly damaging Het
Dgkq C G 5: 108,797,527 (GRCm39) E788D possibly damaging Het
Dpep2 T C 8: 106,712,114 (GRCm39) E282G probably benign Het
Gm8221 T A 15: 77,510,245 (GRCm39) noncoding transcript Het
Ice1 T C 13: 70,757,146 (GRCm39) S280G possibly damaging Het
Lrrc2 A T 9: 110,791,713 (GRCm39) Q155L probably benign Het
Mesd G A 7: 83,547,185 (GRCm39) R216Q probably benign Het
Msh6 T A 17: 88,287,697 (GRCm39) N112K probably damaging Het
Myo15b A G 11: 115,781,778 (GRCm39) E307G probably benign Het
Nod1 T A 6: 54,920,981 (GRCm39) N446Y probably damaging Het
Nrap G A 19: 56,339,913 (GRCm39) T787I probably damaging Het
P2ry12 A G 3: 59,125,078 (GRCm39) I199T probably damaging Het
Prr11 T G 11: 86,989,533 (GRCm39) K279N possibly damaging Het
Psg25 C T 7: 18,258,816 (GRCm39) E287K possibly damaging Het
Rusc1 T C 3: 88,999,615 (GRCm39) S56G probably benign Het
Slc16a7 T C 10: 125,064,056 (GRCm39) N427S probably damaging Het
Slc47a1 T A 11: 61,250,355 (GRCm39) I341L probably benign Het
Slc9a8 T A 2: 167,266,113 (GRCm39) L30Q probably benign Het
Ssh2 T A 11: 77,283,893 (GRCm39) L49* probably null Het
Stard9 T A 2: 120,530,722 (GRCm39) D2326E probably benign Het
Thbs1 T C 2: 117,950,431 (GRCm39) I688T possibly damaging Het
Ttn T A 2: 76,746,822 (GRCm39) E4742D probably benign Het
Vps37b T C 5: 124,145,689 (GRCm39) I117V probably damaging Het
Xirp2 A T 2: 67,343,782 (GRCm39) M2008L probably benign Het
Zfp1005 T G 2: 150,111,362 (GRCm39) V684G possibly damaging Het
Zfp53 A G 17: 21,729,497 (GRCm39) E510G probably damaging Het
Zswim8 T A 14: 20,764,365 (GRCm39) S578R probably benign 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
R4622:Asnsd1 UTSW 1 53,387,378 (GRCm39) missense probably benign 0.13
R5090:Asnsd1 UTSW 1 53,391,563 (GRCm39) unclassified probably benign
R5832:Asnsd1 UTSW 1 53,386,634 (GRCm39) missense probably damaging 1.00
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'- AATCCTGCTGGAGTCTGAGTC -3'
(R):5'- AGATAATGACACCCAGGTTATGTTC -3'

Sequencing Primer
(F):5'- CTGGAGTCTGAGTCAGGTCATTAC -3'
(R):5'- AGCCTTTCTGCCTGTAAGAATGAGTC -3'
Posted On 2015-07-21