Incidental Mutation 'IGL02507:Ptchd4'
ID296395
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 #IGL02507
Quality Score
Status
Chromosome17
Chromosomal Location42315947-42507741 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 42316873 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 75 (H75L)
Ref Sequence ENSEMBL: ENSMUSP00000047640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048691]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048691
AA Change: H75L

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: H75L

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T A 11: 103,199,449 Q287L probably damaging Het
Abca13 A G 11: 9,399,388 Y3654C probably damaging Het
Aldh1l2 A C 10: 83,492,584 Y756* probably null Het
Arhgef12 T C 9: 42,992,563 E733G probably damaging Het
Art5 A T 7: 102,099,492 M1K probably null Het
Atp1a2 A T 1: 172,285,771 D448E probably damaging Het
Atp6v1b1 C T 6: 83,756,855 T356I possibly damaging Het
Celsr1 A G 15: 85,900,688 probably benign Het
Cep89 A G 7: 35,435,565 Y686C probably damaging Het
Cgrrf1 T A 14: 46,853,444 Y212* probably null Het
Chrnb1 T C 11: 69,785,090 Y442C probably damaging Het
Clcn1 T C 6: 42,307,073 probably benign Het
Clcn7 G A 17: 25,144,469 V40M probably damaging Het
Cntn1 A G 15: 92,250,979 Y369C possibly damaging Het
Csmd1 T C 8: 17,534,976 probably benign Het
Dpy19l2 A T 9: 24,631,267 C446S probably benign Het
Edem3 G A 1: 151,811,656 E782K probably benign Het
Ephb3 T A 16: 21,220,639 probably benign Het
Fndc4 T C 5: 31,294,746 D109G probably damaging Het
Fras1 T C 5: 96,657,408 V1303A possibly damaging Het
Gcn1l1 T C 5: 115,585,881 L532P probably benign Het
Gm5150 A G 3: 15,963,321 L262P probably damaging Het
Hbb-bs T C 7: 103,827,884 probably benign Het
Krt74 A G 15: 101,760,624 noncoding transcript Het
Myo1a T C 10: 127,712,609 V375A probably damaging Het
Nup160 A T 2: 90,729,735 Q1268L probably benign Het
Olfr1155 G A 2: 87,942,918 R237* probably null Het
Olfr1290 G A 2: 111,489,423 T245M possibly damaging Het
Olfr1412 T C 1: 92,588,926 S199P possibly damaging Het
Olfr610 G T 7: 103,506,718 S76* probably null Het
Pan3 T C 5: 147,526,596 S497P probably damaging Het
Pex5 T C 6: 124,413,305 T138A probably benign Het
Pik3ap1 A G 19: 41,282,012 probably benign Het
Rag2 A T 2: 101,630,710 H455L probably damaging Het
Rergl T A 6: 139,493,353 E159V probably damaging Het
Rrn3 A G 16: 13,788,857 N109S probably benign Het
Scn1a A T 2: 66,277,813 V1523D probably damaging Het
Sec23a A G 12: 59,007,098 V38A probably benign Het
Slc15a2 G A 16: 36,781,659 T92M possibly damaging Het
Slc2a2 A G 3: 28,727,111 T433A probably benign Het
Sptan1 A G 2: 30,016,055 D1671G probably damaging Het
Stab1 A G 14: 31,139,210 probably benign Het
Stau2 A T 1: 16,486,069 I22N possibly damaging Het
Strn3 A T 12: 51,661,627 Y123* probably null Het
Tmem205 A G 9: 21,926,311 V13A possibly damaging Het
Trub1 G A 19: 57,483,577 probably benign Het
Ttn A G 2: 76,738,355 V27398A possibly damaging Het
Vill A G 9: 119,070,777 E343G possibly damaging Het
Zgpat T C 2: 181,366,236 F189L probably 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
IGL02593:Ptchd4 APN 17 42317146 missense probably benign 0.24
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