Incidental Mutation 'IGL02573:Disp3'
ID 299077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Disp3
Ensembl Gene ENSMUSG00000041544
Gene Name dispatched RND transporter family member 3
Synonyms G630052C06Rik, Ptchd2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02573
Quality Score
Status
Chromosome 4
Chromosomal Location 148324721-148372422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 148355906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 318 (D318V)
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: D318V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: D318V

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl3 T A 4: 98,926,171 (GRCm39) W434R probably damaging Het
Atp7b T C 8: 22,512,486 (GRCm39) Q344R probably benign Het
B4galt5 C T 2: 167,146,982 (GRCm39) R284Q probably benign Het
Ccdc80 T G 16: 44,915,952 (GRCm39) V236G probably damaging Het
Chd8 T C 14: 52,457,191 (GRCm39) I926V possibly damaging Het
Dgkz A C 2: 91,764,542 (GRCm39) S1030R probably damaging Het
Dnaaf10 T C 11: 17,162,136 (GRCm39) L58P possibly damaging Het
Ehd1 T C 19: 6,344,330 (GRCm39) S197P probably damaging Het
Emp1 A G 6: 135,356,945 (GRCm39) K42R probably benign Het
Garin4 G A 1: 190,896,067 (GRCm39) T192I probably damaging Het
Gm4922 T A 10: 18,659,423 (GRCm39) D433V probably benign Het
Gsdma T C 11: 98,561,577 (GRCm39) probably benign Het
Hspbp1 G T 7: 4,680,852 (GRCm39) A208E probably damaging Het
Il5ra A T 6: 106,693,712 (GRCm39) V342E possibly damaging Het
Kif13b T C 14: 65,040,880 (GRCm39) F1660S probably damaging Het
Lvrn A G 18: 47,010,016 (GRCm39) E388G probably damaging Het
Mettl17 G A 14: 52,125,504 (GRCm39) probably null Het
Mgat5b T C 11: 116,868,540 (GRCm39) Y488H probably benign Het
Mtr A T 13: 12,214,013 (GRCm39) D886E possibly damaging Het
Naip6 A T 13: 100,435,979 (GRCm39) L848* probably null Het
Nav3 A G 10: 109,702,835 (GRCm39) S233P probably benign Het
Nme9 A T 9: 99,352,908 (GRCm39) D286V probably benign Het
Nod1 C A 6: 54,920,930 (GRCm39) A463S probably benign Het
Nthl1 A G 17: 24,852,949 (GRCm39) K51R probably benign Het
Or1n2 A G 2: 36,797,566 (GRCm39) I203V probably damaging Het
Or6k14 T A 1: 173,927,696 (GRCm39) V224D possibly damaging Het
Pcnx2 G A 8: 126,582,012 (GRCm39) A908V probably benign Het
Pdcd6 A G 13: 74,452,098 (GRCm39) Y181H probably damaging Het
Pde10a A C 17: 9,180,722 (GRCm39) I719L probably benign Het
Pikfyve T A 1: 65,270,014 (GRCm39) probably null Het
Plekha5 G T 6: 140,527,742 (GRCm39) A396S probably damaging Het
Ppfia2 A G 10: 106,664,789 (GRCm39) T342A probably damaging Het
Rbck1 A G 2: 152,164,087 (GRCm39) I339T possibly damaging Het
Rbms2 A T 10: 127,979,309 (GRCm39) I140N probably damaging Het
Scn1b A T 7: 30,822,546 (GRCm39) L78Q possibly damaging Het
Slc12a6 T C 2: 112,188,986 (GRCm39) probably null Het
Slc25a30 A T 14: 76,007,108 (GRCm39) probably benign Het
Slc30a7 C T 3: 115,783,796 (GRCm39) probably benign Het
Slc5a10 C A 11: 61,563,898 (GRCm39) R546L possibly damaging Het
Stxbp4 T C 11: 90,431,095 (GRCm39) D405G probably damaging Het
Tm4sf19 A C 16: 32,226,678 (GRCm39) T156P possibly damaging Het
Tmem37 A T 1: 119,995,719 (GRCm39) D119E probably damaging Het
Tor1aip1 T A 1: 155,889,117 (GRCm39) N113I probably damaging Het
Ubac2 T A 14: 122,144,802 (GRCm39) Y87N possibly damaging Het
Usp29 A T 7: 6,965,617 (GRCm39) probably null Het
Zfp276 A G 8: 123,991,736 (GRCm39) E428G probably damaging Het
Other mutations in Disp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Disp3 APN 4 148,325,991 (GRCm39) missense probably benign 0.10
IGL01065:Disp3 APN 4 148,345,640 (GRCm39) missense probably damaging 1.00
IGL01800:Disp3 APN 4 148,334,258 (GRCm39) nonsense probably null
IGL01947:Disp3 APN 4 148,344,976 (GRCm39) missense probably damaging 1.00
IGL02510:Disp3 APN 4 148,337,158 (GRCm39) missense probably benign 0.00
IGL02728:Disp3 APN 4 148,356,495 (GRCm39) missense probably damaging 1.00
IGL02931:Disp3 APN 4 148,333,658 (GRCm39) missense possibly damaging 0.94
R0164:Disp3 UTSW 4 148,338,708 (GRCm39) missense probably damaging 0.96
R0164:Disp3 UTSW 4 148,338,708 (GRCm39) missense probably damaging 0.96
R0257:Disp3 UTSW 4 148,335,211 (GRCm39) missense possibly damaging 0.87
R0409:Disp3 UTSW 4 148,356,416 (GRCm39) missense probably damaging 1.00
R0557:Disp3 UTSW 4 148,325,861 (GRCm39) missense possibly damaging 0.64
R0576:Disp3 UTSW 4 148,326,047 (GRCm39) missense possibly damaging 0.89
R1495:Disp3 UTSW 4 148,334,282 (GRCm39) missense probably benign 0.00
R1526:Disp3 UTSW 4 148,344,373 (GRCm39) missense probably benign 0.00
R1791:Disp3 UTSW 4 148,325,975 (GRCm39) missense probably damaging 1.00
R1856:Disp3 UTSW 4 148,356,089 (GRCm39) missense probably damaging 1.00
R1987:Disp3 UTSW 4 148,343,210 (GRCm39) missense probably damaging 0.97
R2030:Disp3 UTSW 4 148,344,423 (GRCm39) missense probably damaging 1.00
R2271:Disp3 UTSW 4 148,356,059 (GRCm39) missense possibly damaging 0.87
R2373:Disp3 UTSW 4 148,343,252 (GRCm39) missense probably damaging 1.00
R2566:Disp3 UTSW 4 148,325,880 (GRCm39) missense probably damaging 1.00
R3731:Disp3 UTSW 4 148,337,284 (GRCm39) missense probably benign 0.03
R4359:Disp3 UTSW 4 148,356,389 (GRCm39) missense probably benign 0.03
R4762:Disp3 UTSW 4 148,356,575 (GRCm39) missense probably damaging 1.00
R4950:Disp3 UTSW 4 148,342,583 (GRCm39) missense possibly damaging 0.94
R4975:Disp3 UTSW 4 148,328,673 (GRCm39) missense possibly damaging 0.79
R5218:Disp3 UTSW 4 148,327,333 (GRCm39) missense possibly damaging 0.88
R5523:Disp3 UTSW 4 148,342,554 (GRCm39) missense probably benign 0.14
R5556:Disp3 UTSW 4 148,342,614 (GRCm39) missense probably benign 0.14
R5857:Disp3 UTSW 4 148,333,640 (GRCm39) missense probably benign 0.01
R5933:Disp3 UTSW 4 148,325,770 (GRCm39) nonsense probably null
R5994:Disp3 UTSW 4 148,338,741 (GRCm39) missense possibly damaging 0.94
R6362:Disp3 UTSW 4 148,338,765 (GRCm39) missense possibly damaging 0.95
R6813:Disp3 UTSW 4 148,344,387 (GRCm39) missense probably benign 0.09
R7211:Disp3 UTSW 4 148,325,979 (GRCm39) missense probably damaging 0.98
R7470:Disp3 UTSW 4 148,345,527 (GRCm39) missense possibly damaging 0.88
R7535:Disp3 UTSW 4 148,327,323 (GRCm39) missense probably damaging 0.99
R8093:Disp3 UTSW 4 148,354,973 (GRCm39) missense possibly damaging 0.93
R8357:Disp3 UTSW 4 148,345,572 (GRCm39) missense possibly damaging 0.86
R8457:Disp3 UTSW 4 148,345,572 (GRCm39) missense possibly damaging 0.86
R8506:Disp3 UTSW 4 148,326,027 (GRCm39) missense possibly damaging 0.77
R9182:Disp3 UTSW 4 148,354,841 (GRCm39) missense probably damaging 1.00
R9219:Disp3 UTSW 4 148,334,317 (GRCm39) missense possibly damaging 0.74
R9680:Disp3 UTSW 4 148,356,101 (GRCm39) missense probably damaging 1.00
R9696:Disp3 UTSW 4 148,345,611 (GRCm39) missense probably damaging 0.97
Z1088:Disp3 UTSW 4 148,356,200 (GRCm39) missense possibly damaging 0.63
Z1176:Disp3 UTSW 4 148,335,414 (GRCm39) missense probably damaging 1.00
Z1177:Disp3 UTSW 4 148,335,171 (GRCm39) missense probably damaging 1.00
Z1177:Disp3 UTSW 4 148,334,304 (GRCm39) missense probably benign 0.01
Z1177:Disp3 UTSW 4 148,334,203 (GRCm39) missense probably damaging 1.00
Z1177:Disp3 UTSW 4 148,355,024 (GRCm39) nonsense probably null
Posted On 2015-04-16