Incidental Mutation 'IGL02593:Ptchd4'
ID299795
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptchd4
Ensembl Gene ENSMUSG00000042256
Gene Namepatched domain containing 4
Synonyms3110082D06Rik
Accession Numbers

Ncbi RefSeq: NM_028474.1; MGI: 1920485

Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL02593
Quality Score
Status
Chromosome17
Chromosomal Location42315947-42507741 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42317146 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 166 (D166G)
Ref Sequence ENSEMBL: ENSMUSP00000047640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048691]
Predicted Effect probably benign
Transcript: ENSMUST00000048691
AA Change: D166G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: D166G

DomainStartEndE-ValueType
Pfam:Patched 58 867 6.1e-102 PFAM
Pfam:Sterol-sensing 312 464 2.9e-26 PFAM
low complexity region 869 891 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg G T 16: 22,892,328 probably null Het
Bbs4 C T 9: 59,328,597 D232N probably damaging Het
Cdh23 A T 10: 60,465,995 probably benign Het
Cntn5 T C 9: 9,833,499 N554S probably damaging Het
Fn1 T C 1: 71,602,432 I1652V probably benign Het
Gm17677 T A 9: 35,742,142 C81S possibly damaging Het
Gm364 G A X: 57,421,960 D245N probably benign Het
Golga4 T C 9: 118,555,566 probably benign Het
Idh3a T A 9: 54,596,193 probably benign Het
Jph2 T C 2: 163,397,246 Y94C probably damaging Het
Lnx2 A G 5: 147,033,015 S238P possibly damaging Het
Loxhd1 A G 18: 77,410,539 I56V possibly damaging Het
Myo9b A C 8: 71,290,773 E159D probably damaging Het
Nkiras1 A G 14: 18,278,475 N63S possibly damaging Het
Nnmt A G 9: 48,604,803 probably null Het
Olfr535 G A 7: 140,493,331 R231H probably benign Het
P2ry10 T C X: 107,102,696 I79T possibly damaging Het
Padi2 A G 4: 140,949,842 H647R probably damaging Het
Scml2 T C X: 161,187,309 V125A probably benign Het
Senp2 A G 16: 22,044,271 D556G probably damaging Het
Serpina3a G T 12: 104,118,432 V29L probably benign Het
Sgcz A T 8: 37,523,278 I307N probably damaging Het
Slc25a13 C T 6: 6,042,265 V638I probably benign Het
Snx7 G A 3: 117,839,960 L84F probably damaging Het
Ticrr A G 7: 79,695,466 D1693G probably damaging Het
Vmn2r7 C T 3: 64,693,022 C485Y probably damaging Het
Vmn2r-ps129 C T 17: 22,992,796 noncoding transcript Het
Zfyve9 A G 4: 108,682,223 V951A possibly damaging Het
Other mutations in Ptchd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Ptchd4 APN 17 42316926 nonsense probably null
IGL01360:Ptchd4 APN 17 42317045 missense probably benign 0.09
IGL01814:Ptchd4 APN 17 42503286 missense possibly damaging 0.84
IGL01885:Ptchd4 APN 17 42503602 missense probably damaging 1.00
IGL01929:Ptchd4 APN 17 42503322 missense probably benign 0.02
IGL02371:Ptchd4 APN 17 42316974 missense possibly damaging 0.83
IGL02480:Ptchd4 APN 17 42502540 missense probably benign 0.38
IGL02507:Ptchd4 APN 17 42316873 missense possibly damaging 0.72
IGL02861:Ptchd4 APN 17 42377317 missense probably damaging 1.00
IGL02884:Ptchd4 APN 17 42502449 missense possibly damaging 0.86
IGL03384:Ptchd4 APN 17 42502590 missense probably damaging 1.00
PIT4418001:Ptchd4 UTSW 17 42503089 missense probably damaging 1.00
R0030:Ptchd4 UTSW 17 42317108 nonsense probably null
R0243:Ptchd4 UTSW 17 42503416 missense probably damaging 1.00
R0398:Ptchd4 UTSW 17 42377259 missense possibly damaging 0.95
R0513:Ptchd4 UTSW 17 42503746 missense probably benign 0.14
R0630:Ptchd4 UTSW 17 42377185 missense probably benign 0.17
R0662:Ptchd4 UTSW 17 42502576 missense probably damaging 1.00
R1004:Ptchd4 UTSW 17 42377602 missense probably benign 0.00
R1433:Ptchd4 UTSW 17 42503715 missense possibly damaging 0.75
R1451:Ptchd4 UTSW 17 42502918 missense probably damaging 0.99
R1522:Ptchd4 UTSW 17 42503542 missense probably damaging 1.00
R1901:Ptchd4 UTSW 17 42503616 missense probably benign 0.10
R1902:Ptchd4 UTSW 17 42503616 missense probably benign 0.10
R2135:Ptchd4 UTSW 17 42317074 missense probably benign 0.01
R3935:Ptchd4 UTSW 17 42503489 missense possibly damaging 0.80
R4184:Ptchd4 UTSW 17 42502759 missense probably damaging 0.99
R4552:Ptchd4 UTSW 17 42502455 missense probably benign 0.00
R4573:Ptchd4 UTSW 17 42502777 missense probably benign 0.26
R5100:Ptchd4 UTSW 17 42503676 missense possibly damaging 0.59
R5640:Ptchd4 UTSW 17 42503135 missense possibly damaging 0.73
R6213:Ptchd4 UTSW 17 42377360 missense probably benign 0.00
R6704:Ptchd4 UTSW 17 42317040 missense probably benign 0.00
R7011:Ptchd4 UTSW 17 42503868 missense probably benign 0.19
R7017:Ptchd4 UTSW 17 42502735 missense probably damaging 1.00
R7185:Ptchd4 UTSW 17 42503188 missense probably damaging 1.00
R8112:Ptchd4 UTSW 17 42503175 missense probably benign 0.25
R8153:Ptchd4 UTSW 17 42503896 missense probably benign 0.31
R8220:Ptchd4 UTSW 17 42502663 missense probably benign 0.00
X0062:Ptchd4 UTSW 17 42377464 missense probably damaging 0.98
Posted On2015-04-16