Incidental Mutation 'IGL02931:Disp3'
ID364110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Disp3
Ensembl Gene ENSMUSG00000041544
Gene Namedispatched RND transporter family member 3
SynonymsPtchd2, G630052C06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02931
Quality Score
Status
Chromosome4
Chromosomal Location148240264-148287965 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 148249201 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 1060 (S1060F)
Ref Sequence ENSEMBL: ENSMUSP00000038490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047720]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047720
AA Change: S1060F

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: S1060F

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,079,012 R254Q probably benign Het
Adgrv1 T C 13: 81,579,714 Y269C probably damaging Het
Apol7a C A 15: 77,393,450 E33* probably null Het
Arhgap29 T C 3: 121,992,860 V358A probably benign Het
B3galt1 T C 2: 68,118,384 S148P probably damaging Het
BC061237 A G 14: 44,503,322 N60D possibly damaging Het
Bcl9l C T 9: 44,500,750 P11L probably damaging Het
Ccdc89 A C 7: 90,426,902 K107Q probably benign Het
Col27a1 T C 4: 63,331,426 probably benign Het
Col5a2 T C 1: 45,385,065 D1067G probably damaging Het
Col9a2 A T 4: 121,053,192 R511S probably benign Het
Dusp8 T C 7: 142,082,930 T308A probably benign Het
Ern1 T C 11: 106,423,440 N178S probably damaging Het
Gas6 C A 8: 13,477,136 C204F probably damaging Het
Gga1 T C 15: 78,893,322 S558P possibly damaging Het
Gli1 T C 10: 127,332,410 T525A probably benign Het
Gm428 G A 4: 73,687,365 A338T probably damaging Het
Gse1 A G 8: 120,578,069 probably benign Het
Hmcn1 G A 1: 150,657,207 S3075L probably benign Het
Hnf4a G A 2: 163,566,117 probably benign Het
Htt A T 5: 34,876,753 E1894D probably damaging Het
Kcnh8 G A 17: 52,956,622 E716K probably benign Het
Kntc1 A G 5: 123,799,811 Y1524C probably damaging Het
Krtap9-5 A G 11: 99,949,105 T211A unknown Het
Lin54 T C 5: 100,480,321 I8V possibly damaging Het
Lipe A G 7: 25,383,335 probably benign Het
Lpin2 T A 17: 71,238,683 V508E probably damaging Het
Lrrc9 C A 12: 72,454,149 H216Q probably damaging Het
Lrrn1 T C 6: 107,567,748 L169P probably damaging Het
Map9 C A 3: 82,377,121 T334K possibly damaging Het
Mst1 A T 9: 108,084,642 probably null Het
Mtor T A 4: 148,464,964 F602I probably benign Het
Mylpf T A 7: 127,213,626 D98E probably benign Het
Naca C A 10: 128,047,682 Q2059K probably damaging Het
Nefh G A 11: 4,941,356 T421I possibly damaging Het
Nlrp4g T A 9: 124,348,940 noncoding transcript Het
Npat C T 9: 53,571,041 Q1350* probably null Het
Oaz3 T C 3: 94,434,980 N123S probably benign Het
Patj A G 4: 98,411,173 probably benign Het
Piezo1 A C 8: 122,483,519 D2224E probably damaging Het
Pnpla7 A T 2: 25,015,229 I610F possibly damaging Het
Psapl1 A T 5: 36,204,889 D275V probably damaging Het
Ptpdc1 T A 13: 48,590,619 probably benign Het
Rac2 T C 15: 78,570,747 E31G possibly damaging Het
Sdhc T C 1: 171,143,555 probably benign Het
Smim23 G T 11: 32,820,667 P80T probably damaging Het
Snupn C T 9: 56,957,080 T21I probably benign Het
Tjp2 A G 19: 24,096,632 V1097A probably benign Het
Tmem8 T A 17: 26,117,949 F280L probably benign Het
Ttc16 A G 2: 32,771,927 Y164H probably damaging Het
Txlnb A G 10: 17,827,982 E296G probably damaging Het
Ube2l6 G A 2: 84,802,851 V34M probably damaging Het
Vwf A C 6: 125,615,968 S764R possibly damaging Het
Zfand3 A G 17: 30,192,637 S146G probably benign Het
Zfp280d T G 9: 72,296,025 F18L probably benign 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
IGL01947:Disp3 APN 4 148260519 missense probably damaging 1.00
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
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
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 On2015-12-18