Incidental Mutation 'IGL01469:9430007A20Rik'
ID88204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9430007A20Rik
Ensembl Gene ENSMUSG00000028593
Gene NameRIKEN cDNA 9430007A20 gene
SynonymsLOC381572
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL01469
Quality Score
Status
Chromosome4
Chromosomal Location144519822-144529353 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 144528622 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 204 (Q204R)
Ref Sequence ENSEMBL: ENSMUSP00000030328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030328]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030328
AA Change: Q204R

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030328
Gene: ENSMUSG00000028593
AA Change: Q204R

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 C T 13: 12,310,910 E60K possibly damaging Het
Alpk1 T C 3: 127,677,752 probably null Het
Ccdc107 A G 4: 43,495,751 N218S probably benign Het
Cdh23 A T 10: 60,597,725 M60K probably benign Het
Cenpe A G 3: 135,228,806 Q378R probably damaging Het
Dnah8 T A 17: 30,683,714 probably benign Het
Eif2b4 T C 5: 31,187,767 D190G probably benign Het
Fmo5 A G 3: 97,651,568 N448S probably benign Het
Gal3st2c A G 1: 94,009,317 N328S probably benign Het
Gbf1 A T 19: 46,279,364 E1271V probably damaging Het
Ifitm6 A T 7: 141,016,812 V16D probably damaging Het
Ighv2-4 A G 12: 113,653,346 probably null Het
Kng2 T A 16: 22,999,827 K305I probably damaging Het
Lrp1 C T 10: 127,584,414 R900Q probably damaging Het
Maml1 A G 11: 50,266,526 M274T probably damaging Het
Med23 A G 10: 24,882,597 E278G probably damaging Het
Myo1h A G 5: 114,361,269 T164A probably damaging Het
Ncoa2 A T 1: 13,186,869 S135R probably benign Het
Nrbf2 A G 10: 67,270,140 L41P probably damaging Het
Olfr108 T A 17: 37,445,535 S5T probably benign Het
Olfr341 T C 2: 36,479,824 Y102C probably benign Het
Olfr514 A G 7: 108,825,327 V224A probably benign Het
Olfr678 T A 7: 105,070,388 M307K probably benign Het
Olfr782 A G 10: 129,350,580 M6V probably benign Het
Otoa T C 7: 121,155,273 probably null Het
Pih1d3 A T 1: 31,223,429 D164V probably damaging Het
Plxnb1 T C 9: 109,105,415 probably benign Het
Ppp1r42 A T 1: 10,003,233 probably null Het
Rad54l2 T A 9: 106,722,758 K100M probably damaging Het
Rnf112 T A 11: 61,451,341 T308S possibly damaging Het
Scaper T C 9: 55,859,767 D466G probably damaging Het
Sgsm2 T A 11: 74,853,871 I796L possibly damaging Het
Shank3 T C 15: 89,521,274 L476P probably damaging Het
Shkbp1 T C 7: 27,355,941 T6A probably benign Het
Slc14a2 A T 18: 78,155,566 I783N probably damaging Het
Stat1 A G 1: 52,147,370 D447G possibly damaging Het
Tekt3 T G 11: 63,073,468 I208S probably damaging Het
Tenm3 A T 8: 48,236,423 V2043E probably damaging Het
Tgm3 T C 2: 130,024,494 Y111H probably damaging Het
Tph2 T A 10: 115,079,759 R459* probably null Het
Vmn2r109 T C 17: 20,541,409 Y562C probably damaging Het
Other mutations in 9430007A20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R7555:9430007A20Rik UTSW 4 144522354 missense probably damaging 0.99
R8077:9430007A20Rik UTSW 4 144528556 missense probably benign 0.20
Z1088:9430007A20Rik UTSW 4 144528669 missense probably damaging 1.00
Z1177:9430007A20Rik UTSW 4 144528500 nonsense probably null
Z1177:9430007A20Rik UTSW 4 144528712 nonsense probably null
Posted On2013-11-18