Incidental Mutation 'R0030:Ptchd4'
ID15256
Institutional Source Beutler Lab
Gene Symbol Ptchd4
Ensembl Gene ENSMUSG00000042256
Gene Namepatched domain containing 4
Synonyms3110082D06Rik
MMRRC Submission 038324-MU
Accession Numbers

Ncbi RefSeq: NM_028474.1; MGI: 1920485

Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #R0030 (G1)
Quality Score
Status Validated
Chromosome17
Chromosomal Location42315947-42507741 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 42317108 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 153 (C153*)
Ref Sequence ENSEMBL: ENSMUSP00000047640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048691]
Predicted Effect probably null
Transcript: ENSMUST00000048691
AA Change: C153*
SMART Domains Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: C153*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 78.5%
  • 3x: 68.6%
  • 10x: 42.5%
  • 20x: 22.6%
Validation Efficiency 97% (72/74)
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 A C 6: 140,637,747 S316R probably damaging Het
Brwd1 A G 16: 96,021,256 S1250P probably damaging Het
Cacna1s T C 1: 136,094,989 probably null Het
Cass4 G T 2: 172,427,842 E617* probably null Het
Cct4 T C 11: 23,001,357 probably benign Het
Cdh7 C T 1: 110,138,068 Q691* probably null Het
Crip1 G A 12: 113,153,376 probably null Het
Dnah5 A T 15: 28,451,517 D4367V probably benign Het
Dock3 A G 9: 106,912,313 V1514A possibly damaging Het
Eps15l1 A G 8: 72,373,050 S646P probably benign Het
Faap24 A T 7: 35,392,860 F211I probably damaging Het
Flrt3 A T 2: 140,660,317 Y464N probably damaging Het
Foxi2 A G 7: 135,411,616 T192A probably damaging Het
Gm7298 T A 6: 121,774,050 F695L probably benign Het
Ifnk T G 4: 35,152,489 V139G probably benign Het
Kif18a A T 2: 109,333,318 I671L probably benign Het
Lcn10 T C 2: 25,685,081 F154L probably damaging Het
Med12l T G 3: 59,248,655 L1198R probably damaging Het
Mmp23 G A 4: 155,651,311 R268* probably null Het
Mrps30 T C 13: 118,382,995 D298G possibly damaging Het
Myh7 T A 14: 54,991,970 T124S probably benign Het
Odf4 T A 11: 68,926,941 E9D probably benign Het
Pqlc2 A G 4: 139,306,453 S52P probably damaging Het
Scp2 T A 4: 108,107,690 probably null Het
Slc16a10 A G 10: 40,076,823 V225A probably benign Het
Tbk1 A G 10: 121,561,624 V381A probably benign Het
Tdrd6 T C 17: 43,626,591 K1189E possibly damaging Het
Ttc39a C A 4: 109,422,973 H151N probably benign Het
Ush2a C T 1: 188,822,657 T3544M possibly damaging Het
Vnn1 A G 10: 23,900,846 H365R probably benign 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
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
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 On2012-12-17