Incidental Mutation 'IGL02219:Scrib'
ID285063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scrib
Ensembl Gene ENSMUSG00000022568
Gene Namescribbled planar cell polarity
SynonymsScrb1, Crc
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02219
Quality Score
Status
Chromosome15
Chromosomal Location76047158-76069784 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 76065036 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 383 (K383*)
Ref Sequence ENSEMBL: ENSMUSP00000105572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002603] [ENSMUST00000063747] [ENSMUST00000109946]
Predicted Effect probably null
Transcript: ENSMUST00000002603
AA Change: K383*
SMART Domains Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: K383*

DomainStartEndE-ValueType
LRR 58 80 1.99e0 SMART
LRR 81 104 2.54e2 SMART
LRR 127 149 3.56e2 SMART
LRR 150 172 2.33e1 SMART
LRR 173 195 2.45e0 SMART
LRR_TYP 196 218 7.78e-3 SMART
LRR 219 241 7.79e0 SMART
LRR 242 265 1.41e0 SMART
LRR 288 310 2.47e2 SMART
LRR_TYP 311 334 2.36e-2 SMART
LRR 335 356 7.8e1 SMART
LRR 357 380 1.22e2 SMART
low complexity region 455 466 N/A INTRINSIC
low complexity region 502 511 N/A INTRINSIC
coiled coil region 653 685 N/A INTRINSIC
PDZ 722 801 2e-23 SMART
low complexity region 822 837 N/A INTRINSIC
PDZ 856 936 1.23e-23 SMART
low complexity region 941 965 N/A INTRINSIC
low complexity region 968 978 N/A INTRINSIC
PDZ 998 1079 6.7e-25 SMART
PDZ 1095 1178 3.88e-21 SMART
low complexity region 1306 1321 N/A INTRINSIC
coiled coil region 1390 1420 N/A INTRINSIC
low complexity region 1452 1464 N/A INTRINSIC
low complexity region 1498 1515 N/A INTRINSIC
low complexity region 1549 1560 N/A INTRINSIC
low complexity region 1648 1665 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000063747
AA Change: K383*
SMART Domains Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: K383*

DomainStartEndE-ValueType
LRR 58 80 1.99e0 SMART
LRR 81 104 2.54e2 SMART
LRR 127 149 3.56e2 SMART
LRR 150 172 2.33e1 SMART
LRR 173 195 2.45e0 SMART
LRR_TYP 196 218 7.78e-3 SMART
LRR 219 241 7.79e0 SMART
LRR 242 265 1.41e0 SMART
LRR 288 310 2.47e2 SMART
LRR_TYP 311 334 2.36e-2 SMART
LRR 335 356 7.8e1 SMART
LRR 357 380 1.22e2 SMART
low complexity region 455 466 N/A INTRINSIC
low complexity region 502 511 N/A INTRINSIC
coiled coil region 653 685 N/A INTRINSIC
PDZ 722 801 2e-23 SMART
low complexity region 822 837 N/A INTRINSIC
PDZ 856 936 1.23e-23 SMART
low complexity region 941 965 N/A INTRINSIC
low complexity region 968 978 N/A INTRINSIC
PDZ 998 1079 6.7e-25 SMART
PDZ 1095 1178 3.88e-21 SMART
low complexity region 1282 1293 N/A INTRINSIC
coiled coil region 1362 1392 N/A INTRINSIC
low complexity region 1424 1436 N/A INTRINSIC
low complexity region 1470 1487 N/A INTRINSIC
low complexity region 1521 1532 N/A INTRINSIC
low complexity region 1595 1612 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109946
AA Change: K383*
SMART Domains Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: K383*

DomainStartEndE-ValueType
LRR 58 80 1.99e0 SMART
LRR 81 104 2.54e2 SMART
LRR 127 149 3.56e2 SMART
LRR 150 172 2.33e1 SMART
LRR 173 195 2.45e0 SMART
LRR_TYP 196 218 7.78e-3 SMART
LRR 219 241 7.79e0 SMART
LRR 242 265 1.41e0 SMART
LRR 288 310 2.47e2 SMART
LRR_TYP 311 334 2.36e-2 SMART
LRR 335 356 7.8e1 SMART
LRR 357 380 1.22e2 SMART
low complexity region 455 466 N/A INTRINSIC
low complexity region 502 511 N/A INTRINSIC
coiled coil region 653 685 N/A INTRINSIC
PDZ 722 801 2e-23 SMART
low complexity region 822 837 N/A INTRINSIC
PDZ 856 936 1.23e-23 SMART
low complexity region 941 965 N/A INTRINSIC
low complexity region 968 978 N/A INTRINSIC
PDZ 998 1079 6.7e-25 SMART
PDZ 1095 1178 3.88e-21 SMART
low complexity region 1282 1293 N/A INTRINSIC
coiled coil region 1362 1392 N/A INTRINSIC
low complexity region 1424 1436 N/A INTRINSIC
low complexity region 1470 1487 N/A INTRINSIC
low complexity region 1521 1532 N/A INTRINSIC
low complexity region 1620 1637 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136390
SMART Domains Protein: ENSMUSP00000119097
Gene: ENSMUSG00000022568

DomainStartEndE-ValueType
PDZ 27 106 2e-23 SMART
low complexity region 127 142 N/A INTRINSIC
PDZ 161 241 1.23e-23 SMART
low complexity region 246 270 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
PDZ 303 384 6.7e-25 SMART
PDZ 400 483 3.88e-21 SMART
low complexity region 611 626 N/A INTRINSIC
coiled coil region 694 724 N/A INTRINSIC
low complexity region 757 769 N/A INTRINSIC
low complexity region 803 820 N/A INTRINSIC
low complexity region 854 865 N/A INTRINSIC
low complexity region 928 945 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185092
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele display partial prenatal lethality. Mice homozygous for spontaneous or induced alleles exhibit craniofacial or neural tube defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T C 7: 28,154,635 Y1675H probably damaging Het
A730013G03Rik A T 1: 192,833,383 noncoding transcript Het
Abcb10 G A 8: 123,954,427 H677Y probably benign Het
Ager T C 17: 34,600,120 V314A probably damaging Het
Asxl3 A G 18: 22,453,626 M158V possibly damaging Het
Atp1a2 A T 1: 172,279,718 M745K probably damaging Het
Atp1a2 G A 1: 172,279,731 Q741* probably null Het
Begain A G 12: 109,033,730 S577P probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Camk2b A G 11: 5,976,872 L497P possibly damaging Het
Cand2 T A 6: 115,803,812 I1219N probably damaging Het
Cckbr T A 7: 105,434,048 Y153N probably damaging Het
Cep250 T G 2: 155,991,594 V1812G probably benign Het
Cyp2c39 A T 19: 39,568,199 probably benign Het
Ddx43 T A 9: 78,416,719 M444K probably damaging Het
Dnm1 A T 2: 32,323,450 M506K probably benign Het
Duox2 A T 2: 122,294,664 H352Q probably benign Het
Fsip2 A G 2: 82,977,830 T1498A probably benign Het
Gcn1l1 A T 5: 115,613,767 Q2067L possibly damaging Het
Get4 G T 5: 139,263,629 probably null Het
Gm6370 G A 5: 146,493,643 A213T possibly damaging Het
Gpr135 T C 12: 72,070,273 Y240C probably damaging Het
Gstm5 T A 3: 107,898,031 L145Q probably damaging Het
Hoxb3 T C 11: 96,346,160 Y355H probably damaging Het
Hsf2 A C 10: 57,496,274 K108Q probably damaging Het
Kdm3a T C 6: 71,600,734 N694S probably benign Het
Lrpap1 G A 5: 35,096,067 probably benign Het
Mapk8ip3 T C 17: 24,899,558 T1162A probably damaging Het
Mettl14 T C 3: 123,374,891 probably benign Het
Mrgprx1 T C 7: 48,021,729 Y90C probably benign Het
Mybpc3 A T 2: 91,121,023 probably null Het
Nup88 C T 11: 70,969,692 G87D probably benign Het
Olfr1153 A G 2: 87,896,973 Y258C possibly damaging Het
Olfr1502 C T 19: 13,861,823 T10M probably damaging Het
Olfr39 A T 9: 20,286,460 T254S probably benign Het
Pan2 G A 10: 128,320,352 E1133K probably benign Het
Pcsk2 T C 2: 143,793,125 S307P probably damaging Het
Pdgfa C T 5: 138,986,195 V150I probably damaging Het
Phf12 T C 11: 77,984,196 C83R probably damaging Het
Pla2g2c A G 4: 138,736,008 Y71C probably damaging Het
Pou2f2 T A 7: 25,097,682 Q218L probably damaging Het
Prl8a9 C T 13: 27,559,370 V151I possibly damaging Het
Prop1 T C 11: 50,952,084 D92G probably damaging Het
Rnf13 A G 3: 57,796,223 Y116C probably damaging Het
Slc44a5 T C 3: 154,239,159 Y138H possibly damaging Het
Stra6 G A 9: 58,140,469 V108M probably benign Het
Trove2 A G 1: 143,761,275 C400R possibly damaging Het
Tspan10 G T 11: 120,446,372 A323S probably benign Het
Ttc22 T A 4: 106,638,490 V347D probably damaging Het
Ugt1a10 C T 1: 88,056,058 L193F probably benign Het
Vps13d G T 4: 145,168,146 H457N probably benign Het
Vrtn A G 12: 84,648,833 Y119C probably damaging Het
Xpnpep3 T C 15: 81,427,456 F121S probably damaging Het
Other mutations in Scrib
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Scrib APN 15 76048794 missense possibly damaging 0.49
IGL00905:Scrib APN 15 76064990 missense probably damaging 0.96
IGL01529:Scrib APN 15 76049235 missense possibly damaging 0.66
IGL01896:Scrib APN 15 76066118 missense possibly damaging 0.75
IGL01947:Scrib APN 15 76061767 missense probably benign 0.01
IGL02372:Scrib APN 15 76048255 missense probably damaging 0.99
IGL02880:Scrib APN 15 76066124 missense probably damaging 1.00
IGL02959:Scrib APN 15 76065207 missense probably damaging 0.99
R0605:Scrib UTSW 15 76067553 missense possibly damaging 0.89
R0711:Scrib UTSW 15 76066907 unclassified probably benign
R0757:Scrib UTSW 15 76062750 small deletion probably benign
R0903:Scrib UTSW 15 76066855 missense possibly damaging 0.95
R0959:Scrib UTSW 15 76051461 missense probably benign 0.34
R1483:Scrib UTSW 15 76057922 missense probably damaging 1.00
R1551:Scrib UTSW 15 76065162 missense probably damaging 1.00
R1604:Scrib UTSW 15 76048240 missense probably damaging 0.97
R1613:Scrib UTSW 15 76048542 missense probably damaging 1.00
R1615:Scrib UTSW 15 76066205 missense probably benign 0.39
R1681:Scrib UTSW 15 76064567 missense probably damaging 1.00
R3110:Scrib UTSW 15 76069374 missense probably damaging 0.98
R3112:Scrib UTSW 15 76069374 missense probably damaging 0.98
R4050:Scrib UTSW 15 76051473 missense possibly damaging 0.91
R4660:Scrib UTSW 15 76065336 missense probably damaging 0.98
R4976:Scrib UTSW 15 76051753 critical splice donor site probably null
R5119:Scrib UTSW 15 76051753 critical splice donor site probably null
R5243:Scrib UTSW 15 76065252 missense probably benign 0.00
R5246:Scrib UTSW 15 76064797 missense probably benign 0.19
R5483:Scrib UTSW 15 76067659 critical splice donor site probably null
R5516:Scrib UTSW 15 76062863 missense possibly damaging 0.50
R5628:Scrib UTSW 15 76049540 missense possibly damaging 0.66
R5787:Scrib UTSW 15 76059302 missense probably damaging 1.00
R5894:Scrib UTSW 15 76067732 missense probably damaging 0.99
R6005:Scrib UTSW 15 76057751 missense probably damaging 1.00
R6041:Scrib UTSW 15 76067172 missense possibly damaging 0.93
R6351:Scrib UTSW 15 76064986 missense possibly damaging 0.65
R6603:Scrib UTSW 15 76062723 missense probably benign 0.00
Z1088:Scrib UTSW 15 76048231 missense probably damaging 0.99
Posted On2015-04-16