Incidental Mutation 'IGL01947:Disp3'
ID 181270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Disp3
Ensembl Gene ENSMUSG00000041544
Gene Name dispatched RND transporter family member 3
Synonyms Ptchd2, G630052C06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01947
Quality Score
Status
Chromosome 4
Chromosomal Location 148240264-148287965 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 148260519 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 472 (I472F)
Ref Sequence ENSEMBL: ENSMUSP00000038490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047720]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047720
AA Change: I472F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: I472F

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
low complexity region 159 171 N/A INTRINSIC
low complexity region 179 195 N/A INTRINSIC
Pfam:Patched 362 735 2.2e-21 PFAM
Pfam:MMPL 366 590 3.1e-14 PFAM
Pfam:Sterol-sensing 435 588 1.1e-17 PFAM
Pfam:Patched 1121 1301 1.6e-7 PFAM
transmembrane domain 1314 1333 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143851
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,510,791 probably null Het
Aloxe3 T A 11: 69,143,021 probably benign Het
Atic C T 1: 71,570,837 probably benign Het
Avpr1a T C 10: 122,452,182 V365A probably benign Het
Brd7 A G 8: 88,332,875 probably benign Het
Cc2d2a A G 5: 43,688,237 N332D probably damaging Het
Cdh20 C T 1: 104,993,924 P649S possibly damaging Het
Cgnl1 T C 9: 71,725,044 T342A probably damaging Het
Chst10 A G 1: 38,865,565 L349P probably damaging Het
Cox6b2 T A 7: 4,751,930 K77* probably null Het
Crnkl1 G A 2: 145,921,824 A498V probably benign Het
Cux1 A G 5: 136,275,125 L1394P probably benign Het
Dapp1 T C 3: 137,935,643 Y197C probably damaging Het
Dcc A G 18: 71,826,209 I164T probably benign Het
Gm10392 A T 11: 77,517,480 D104E probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gpd1 A G 15: 99,720,231 I143V possibly damaging Het
Hmcn1 T A 1: 150,732,892 N1513I possibly damaging Het
Jakmip2 T C 18: 43,547,094 I733V probably benign Het
Klhl12 T A 1: 134,463,951 L107H probably damaging Het
Lcn8 A G 2: 25,655,145 D109G probably damaging Het
Maz A T 7: 127,024,442 probably null Het
Mttp T A 3: 138,107,129 D595V probably damaging Het
Mymk A C 2: 27,066,394 L58R possibly damaging Het
Nckap1 A C 2: 80,508,753 I977S probably damaging Het
Nckap1l A T 15: 103,491,015 I1021F probably benign Het
Olfr102 A T 17: 37,313,665 C240S probably damaging Het
Olfr1307 A T 2: 111,944,994 M154K probably benign Het
Olfr1310 A T 2: 112,009,016 S57T possibly damaging Het
Olfr768 G A 10: 129,093,878 T32I possibly damaging Het
Pde5a T A 3: 122,835,610 F644L probably damaging Het
Pdzd2 A G 15: 12,592,354 I68T probably damaging Het
Pik3r4 T A 9: 105,686,150 V1242D possibly damaging Het
Ppp6r2 G T 15: 89,278,726 W517L probably damaging Het
Scrib A T 15: 76,061,767 I703K probably benign Het
Serpina1b T C 12: 103,729,317 S322G probably benign Het
Siglecg C A 7: 43,408,763 Q25K probably benign Het
Slc12a3 G A 8: 94,365,819 probably null Het
Slc6a13 G T 6: 121,325,157 probably null Het
Stard13 A T 5: 151,062,844 D282E probably damaging Het
Tpte A T 8: 22,355,473 Y513F possibly damaging Het
Ubox5 T A 2: 130,600,659 K36I possibly damaging Het
Other mutations in Disp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Disp3 APN 4 148241534 missense probably benign 0.10
IGL01065:Disp3 APN 4 148261183 missense probably damaging 1.00
IGL01800:Disp3 APN 4 148249801 nonsense probably null
IGL02510:Disp3 APN 4 148252701 missense probably benign 0.00
IGL02573:Disp3 APN 4 148271449 missense probably damaging 1.00
IGL02728:Disp3 APN 4 148272038 missense probably damaging 1.00
IGL02931:Disp3 APN 4 148249201 missense possibly damaging 0.94
R0164:Disp3 UTSW 4 148254251 missense probably damaging 0.96
R0164:Disp3 UTSW 4 148254251 missense probably damaging 0.96
R0257:Disp3 UTSW 4 148250754 missense possibly damaging 0.87
R0409:Disp3 UTSW 4 148271959 missense probably damaging 1.00
R0557:Disp3 UTSW 4 148241404 missense possibly damaging 0.64
R0576:Disp3 UTSW 4 148241590 missense possibly damaging 0.89
R1495:Disp3 UTSW 4 148249825 missense probably benign 0.00
R1526:Disp3 UTSW 4 148259916 missense probably benign 0.00
R1791:Disp3 UTSW 4 148241518 missense probably damaging 1.00
R1856:Disp3 UTSW 4 148271632 missense probably damaging 1.00
R1987:Disp3 UTSW 4 148258753 missense probably damaging 0.97
R2030:Disp3 UTSW 4 148259966 missense probably damaging 1.00
R2271:Disp3 UTSW 4 148271602 missense possibly damaging 0.87
R2373:Disp3 UTSW 4 148258795 missense probably damaging 1.00
R2566:Disp3 UTSW 4 148241423 missense probably damaging 1.00
R3731:Disp3 UTSW 4 148252827 missense probably benign 0.03
R4359:Disp3 UTSW 4 148271932 missense probably benign 0.03
R4762:Disp3 UTSW 4 148272118 missense probably damaging 1.00
R4950:Disp3 UTSW 4 148258126 missense possibly damaging 0.94
R4975:Disp3 UTSW 4 148244216 missense possibly damaging 0.79
R5218:Disp3 UTSW 4 148242876 missense possibly damaging 0.88
R5523:Disp3 UTSW 4 148258097 missense probably benign 0.14
R5556:Disp3 UTSW 4 148258157 missense probably benign 0.14
R5857:Disp3 UTSW 4 148249183 missense probably benign 0.01
R5933:Disp3 UTSW 4 148241313 nonsense probably null
R5994:Disp3 UTSW 4 148254284 missense possibly damaging 0.94
R6362:Disp3 UTSW 4 148254308 missense possibly damaging 0.95
R6813:Disp3 UTSW 4 148259930 missense probably benign 0.09
R7211:Disp3 UTSW 4 148241522 missense probably damaging 0.98
R7470:Disp3 UTSW 4 148261070 missense possibly damaging 0.88
R7535:Disp3 UTSW 4 148242866 missense probably damaging 0.99
R8093:Disp3 UTSW 4 148270516 missense possibly damaging 0.93
R8357:Disp3 UTSW 4 148261115 missense possibly damaging 0.86
R8457:Disp3 UTSW 4 148261115 missense possibly damaging 0.86
R8506:Disp3 UTSW 4 148241570 missense possibly damaging 0.77
R9182:Disp3 UTSW 4 148270384 missense probably damaging 1.00
R9219:Disp3 UTSW 4 148249860 missense possibly damaging 0.74
R9680:Disp3 UTSW 4 148271644 missense probably damaging 1.00
R9696:Disp3 UTSW 4 148261154 missense probably damaging 0.97
Z1088:Disp3 UTSW 4 148271743 missense possibly damaging 0.63
Z1176:Disp3 UTSW 4 148250957 missense probably damaging 1.00
Z1177:Disp3 UTSW 4 148249746 missense probably damaging 1.00
Z1177:Disp3 UTSW 4 148249847 missense probably benign 0.01
Z1177:Disp3 UTSW 4 148250714 missense probably damaging 1.00
Z1177:Disp3 UTSW 4 148270567 nonsense probably null
Posted On 2014-05-07