Incidental Mutation 'IGL01885:Ptchd4'
ID 179095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptchd4
Ensembl Gene ENSMUSG00000042256
Gene Name patched domain containing 4
Synonyms 3110082D06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # IGL01885
Quality Score
Status
Chromosome 17
Chromosomal Location 42626838-42815968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42814493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 798 (T798I)
Ref Sequence ENSEMBL: ENSMUSP00000047640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048691]
AlphaFold B9EKX1
Predicted Effect probably damaging
Transcript: ENSMUST00000048691
AA Change: T798I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: T798I

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,774,575 (GRCm39) V568A possibly damaging Het
Abcb11 T A 2: 69,117,971 (GRCm39) Q469L probably damaging Het
Ahsg G A 16: 22,717,731 (GRCm39) G264E probably damaging Het
Ankar T C 1: 72,697,862 (GRCm39) Y788C probably damaging Het
Birc6 T A 17: 74,911,511 (GRCm39) F1508I possibly damaging Het
Cd6 C A 19: 10,776,601 (GRCm39) Q141H probably benign Het
Cercam A C 2: 29,771,015 (GRCm39) T471P probably damaging Het
Cux1 T C 5: 136,337,301 (GRCm39) D729G possibly damaging Het
Dglucy T A 12: 100,816,540 (GRCm39) F394Y probably damaging Het
E130308A19Rik A G 4: 59,720,004 (GRCm39) N512S probably benign Het
Ephb4 T C 5: 137,356,059 (GRCm39) C223R probably damaging Het
Gcn1 T A 5: 115,714,174 (GRCm39) probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hirip3 T A 7: 126,463,381 (GRCm39) S446T probably benign Het
Hoxa5 A T 6: 52,179,647 (GRCm39) F243I probably damaging Het
Iars1 T C 13: 49,844,975 (GRCm39) V162A probably benign Het
Lama2 G A 10: 26,981,135 (GRCm39) R1840* probably null Het
Lbp T A 2: 158,166,493 (GRCm39) L349Q probably damaging Het
Lrp4 T C 2: 91,331,452 (GRCm39) I1604T probably benign Het
Mapk10 T C 5: 103,144,455 (GRCm39) K121E probably damaging Het
Nav3 T A 10: 109,578,521 (GRCm39) R1579* probably null Het
Obscn T C 11: 58,965,794 (GRCm39) D652G possibly damaging Het
Or10x1 A G 1: 174,196,967 (GRCm39) I161M probably damaging Het
Or5b117 G A 19: 13,431,449 (GRCm39) T144I probably benign Het
Or7g30 A G 9: 19,352,760 (GRCm39) I184V probably benign Het
Ostm1 C T 10: 42,574,147 (GRCm39) S280L possibly damaging Het
Peak1 C T 9: 56,167,388 (GRCm39) R180K probably damaging Het
Plcz1 T C 6: 139,947,837 (GRCm39) Y515C probably benign Het
Postn T C 3: 54,283,455 (GRCm39) probably benign Het
Rnf41 A T 10: 128,271,344 (GRCm39) N85Y probably damaging Het
Shisa7 A T 7: 4,833,825 (GRCm39) H323Q probably damaging Het
Slco2a1 T A 9: 102,951,629 (GRCm39) M386K probably damaging Het
St18 G A 1: 6,914,596 (GRCm39) probably null Het
Stra6 T A 9: 58,048,431 (GRCm39) L175M probably damaging Het
Tmem67 A G 4: 12,057,389 (GRCm39) L600P probably damaging Het
Try5 G T 6: 41,288,672 (GRCm39) N182K possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo7 G A 14: 70,903,475 (GRCm39) T1078I probably benign Het
Zan G A 5: 137,462,386 (GRCm39) T931I unknown Het
Other mutations in Ptchd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Ptchd4 APN 17 42,627,817 (GRCm39) nonsense probably null
IGL01360:Ptchd4 APN 17 42,627,936 (GRCm39) missense probably benign 0.09
IGL01814:Ptchd4 APN 17 42,814,177 (GRCm39) missense possibly damaging 0.84
IGL01929:Ptchd4 APN 17 42,814,213 (GRCm39) missense probably benign 0.02
IGL02371:Ptchd4 APN 17 42,627,865 (GRCm39) missense possibly damaging 0.83
IGL02480:Ptchd4 APN 17 42,813,431 (GRCm39) missense probably benign 0.38
IGL02507:Ptchd4 APN 17 42,627,764 (GRCm39) missense possibly damaging 0.72
IGL02593:Ptchd4 APN 17 42,628,037 (GRCm39) missense probably benign 0.24
IGL02861:Ptchd4 APN 17 42,688,208 (GRCm39) missense probably damaging 1.00
IGL02884:Ptchd4 APN 17 42,813,340 (GRCm39) missense possibly damaging 0.86
IGL03384:Ptchd4 APN 17 42,813,481 (GRCm39) missense probably damaging 1.00
PIT4418001:Ptchd4 UTSW 17 42,813,980 (GRCm39) missense probably damaging 1.00
R0030:Ptchd4 UTSW 17 42,627,999 (GRCm39) nonsense probably null
R0243:Ptchd4 UTSW 17 42,814,307 (GRCm39) missense probably damaging 1.00
R0398:Ptchd4 UTSW 17 42,688,150 (GRCm39) missense possibly damaging 0.95
R0513:Ptchd4 UTSW 17 42,814,637 (GRCm39) missense probably benign 0.14
R0630:Ptchd4 UTSW 17 42,688,076 (GRCm39) missense probably benign 0.17
R0662:Ptchd4 UTSW 17 42,813,467 (GRCm39) missense probably damaging 1.00
R1004:Ptchd4 UTSW 17 42,688,493 (GRCm39) missense probably benign 0.00
R1433:Ptchd4 UTSW 17 42,814,606 (GRCm39) missense possibly damaging 0.75
R1451:Ptchd4 UTSW 17 42,813,809 (GRCm39) missense probably damaging 0.99
R1522:Ptchd4 UTSW 17 42,814,433 (GRCm39) missense probably damaging 1.00
R1901:Ptchd4 UTSW 17 42,814,507 (GRCm39) missense probably benign 0.10
R1902:Ptchd4 UTSW 17 42,814,507 (GRCm39) missense probably benign 0.10
R2135:Ptchd4 UTSW 17 42,627,965 (GRCm39) missense probably benign 0.01
R3935:Ptchd4 UTSW 17 42,814,380 (GRCm39) missense possibly damaging 0.80
R4184:Ptchd4 UTSW 17 42,813,650 (GRCm39) missense probably damaging 0.99
R4552:Ptchd4 UTSW 17 42,813,346 (GRCm39) missense probably benign 0.00
R4573:Ptchd4 UTSW 17 42,813,668 (GRCm39) missense probably benign 0.26
R5100:Ptchd4 UTSW 17 42,814,567 (GRCm39) missense possibly damaging 0.59
R5640:Ptchd4 UTSW 17 42,814,026 (GRCm39) missense possibly damaging 0.73
R6213:Ptchd4 UTSW 17 42,688,251 (GRCm39) missense probably benign 0.00
R6704:Ptchd4 UTSW 17 42,627,931 (GRCm39) missense probably benign 0.00
R7011:Ptchd4 UTSW 17 42,814,759 (GRCm39) missense probably benign 0.19
R7017:Ptchd4 UTSW 17 42,813,626 (GRCm39) missense probably damaging 1.00
R7185:Ptchd4 UTSW 17 42,814,079 (GRCm39) missense probably damaging 1.00
R8112:Ptchd4 UTSW 17 42,814,066 (GRCm39) missense probably benign 0.25
R8153:Ptchd4 UTSW 17 42,814,787 (GRCm39) missense probably benign 0.31
R8220:Ptchd4 UTSW 17 42,813,554 (GRCm39) missense probably benign 0.00
R8547:Ptchd4 UTSW 17 42,813,512 (GRCm39) missense probably benign 0.01
R9072:Ptchd4 UTSW 17 42,813,650 (GRCm39) missense probably damaging 0.99
R9073:Ptchd4 UTSW 17 42,813,650 (GRCm39) missense probably damaging 0.99
R9205:Ptchd4 UTSW 17 42,814,276 (GRCm39) missense probably benign 0.00
R9242:Ptchd4 UTSW 17 42,627,604 (GRCm39) nonsense probably null
R9687:Ptchd4 UTSW 17 42,813,467 (GRCm39) missense probably damaging 1.00
R9706:Ptchd4 UTSW 17 42,814,806 (GRCm39) makesense probably null
R9718:Ptchd4 UTSW 17 42,813,641 (GRCm39) missense probably damaging 0.99
X0062:Ptchd4 UTSW 17 42,688,355 (GRCm39) missense probably damaging 0.98
Posted On 2014-05-07