Incidental Mutation 'R0023:9430007A20Rik'
ID15195
Institutional Source Beutler Lab
Gene Symbol 9430007A20Rik
Ensembl Gene ENSMUSG00000028593
Gene NameRIKEN cDNA 9430007A20 gene
SynonymsLOC381572
MMRRC Submission 038318-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R0023 (G1)
Quality Score
Status Validated
Chromosome4
Chromosomal Location144519822-144529353 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 144528997 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 329 (D329A)
Ref Sequence ENSEMBL: ENSMUSP00000030328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030328]
Predicted Effect probably damaging
Transcript: ENSMUST00000030328
AA Change: D329A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030328
Gene: ENSMUSG00000028593
AA Change: D329A

DomainStartEndE-ValueType
transmembrane domain 2 24 N/A INTRINSIC
Pfam:Abhydrolase_3 115 286 6.2e-32 PFAM
Pfam:Abhydrolase_3 273 381 7.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120637
Meta Mutation Damage Score 0.17 question?
Coding Region Coverage
  • 1x: 78.2%
  • 3x: 67.5%
  • 10x: 40.9%
  • 20x: 21.9%
Validation Efficiency 89% (77/87)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,153,412 K1375E probably benign Het
Abcc12 T A 8: 86,538,333 H661L probably damaging Het
Acsbg2 C G 17: 56,847,710 A481P probably damaging Het
Aknad1 T A 3: 108,781,185 C610S probably benign Het
Anapc1 T A 2: 128,678,218 K226N probably damaging Het
Aqp11 A T 7: 97,726,689 I251N possibly damaging Het
Arid1a G T 4: 133,691,176 T1032K unknown Het
Atg16l1 T C 1: 87,789,465 V538A probably benign Het
Atp7b A T 8: 22,011,073 L938Q probably damaging Het
Bbs1 C T 19: 4,906,014 A44T probably damaging Het
Btbd9 A T 17: 30,530,214 V42E probably damaging Het
Carmil3 C G 14: 55,492,876 S15R probably damaging Het
Cfap44 T A 16: 44,421,220 F651L probably benign Het
Clcn3 A T 8: 60,933,070 probably benign Het
Copb1 A T 7: 114,250,094 D91E probably benign Het
Ctr9 G A 7: 111,043,947 A509T possibly damaging Het
Dst C T 1: 34,189,119 P1606L probably damaging Het
Emc1 A G 4: 139,371,009 D767G probably damaging Het
Fads1 G A 19: 10,186,897 probably benign Het
Frrs1 T C 3: 116,896,788 F27L probably damaging Het
Itga2 G A 13: 114,870,496 S432L possibly damaging Het
Lrig3 A C 10: 126,010,219 D839A probably damaging Het
Macf1 A T 4: 123,488,314 probably benign Het
Myo6 T C 9: 80,283,534 V789A possibly damaging Het
Nasp A G 4: 116,605,771 probably benign Het
Nsmaf A G 4: 6,408,680 Y700H probably damaging Het
Plekhs1 T G 19: 56,478,516 S260A probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
R3hdm1 T C 1: 128,211,192 probably benign Het
Rtcb A T 10: 85,949,451 probably benign Het
Suco A T 1: 161,845,585 probably null Het
Synrg G T 11: 84,008,653 D562Y probably damaging Het
Tfip11 T C 5: 112,332,009 S265P possibly damaging Het
Ucp3 G T 7: 100,485,043 V288L probably benign Het
Xylt1 G T 7: 117,634,701 G485V probably damaging Het
Yars A G 4: 129,197,188 T130A probably benign Het
Zfp652 A T 11: 95,753,469 R205* probably null Het
Other mutations in 9430007A20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:9430007A20Rik APN 4 144528622 missense possibly damaging 0.92
IGL01866:9430007A20Rik APN 4 144528549 missense possibly damaging 0.85
IGL02736:9430007A20Rik APN 4 144528637 missense probably benign 0.15
IGL02928:9430007A20Rik APN 4 144529232 missense possibly damaging 0.93
IGL03236:9430007A20Rik APN 4 144519916 missense probably benign 0.00
R0023:9430007A20Rik UTSW 4 144528997 missense probably damaging 1.00
R0304:9430007A20Rik UTSW 4 144520049 missense probably benign 0.44
R0320:9430007A20Rik UTSW 4 144522420 missense probably damaging 1.00
R0987:9430007A20Rik UTSW 4 144519932 missense possibly damaging 0.81
R1124:9430007A20Rik UTSW 4 144528624 missense probably benign 0.00
R1202:9430007A20Rik UTSW 4 144523666 missense probably benign 0.07
R1708:9430007A20Rik UTSW 4 144519941 missense probably benign 0.36
R2238:9430007A20Rik UTSW 4 144519899 missense possibly damaging 0.88
R2334:9430007A20Rik UTSW 4 144528859 missense probably damaging 1.00
R2351:9430007A20Rik UTSW 4 144528778 missense probably damaging 1.00
R4913:9430007A20Rik UTSW 4 144528811 missense possibly damaging 0.93
R5153:9430007A20Rik UTSW 4 144522267 missense probably benign 0.06
R6312:9430007A20Rik UTSW 4 144528502 missense probably benign
R6379:9430007A20Rik UTSW 4 144522342 missense probably benign 0.10
Z1088:9430007A20Rik UTSW 4 144528669 missense probably damaging 1.00
Posted On2012-12-12