Incidental Mutation 'IGL02219:Scrib'
ID 285063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scrib
Ensembl Gene ENSMUSG00000022568
Gene Name scribbled planar cell polarity
Synonyms Scrb1, Crc
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02219
Quality Score
Status
Chromosome 15
Chromosomal Location 75919011-75941633 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 75936885 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q80U72
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
A730013G03Rik A T 1: 192,515,691 (GRCm39) noncoding transcript Het
Abcb10 G A 8: 124,681,166 (GRCm39) H677Y probably benign Het
Ager T C 17: 34,819,094 (GRCm39) V314A probably damaging Het
Asxl3 A G 18: 22,586,683 (GRCm39) M158V possibly damaging Het
Atp1a2 G A 1: 172,107,298 (GRCm39) Q741* probably null Het
Atp1a2 A T 1: 172,107,285 (GRCm39) M745K probably damaging Het
Begain A G 12: 108,999,656 (GRCm39) S577P probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Camk2b A G 11: 5,926,872 (GRCm39) L497P possibly damaging Het
Cand2 T A 6: 115,780,773 (GRCm39) I1219N probably damaging Het
Cckbr T A 7: 105,083,255 (GRCm39) Y153N probably damaging Het
Cep250 T G 2: 155,833,514 (GRCm39) V1812G probably benign Het
Cyp2c39 A T 19: 39,556,643 (GRCm39) probably benign Het
Ddx43 T A 9: 78,324,001 (GRCm39) M444K probably damaging Het
Dnm1 A T 2: 32,213,462 (GRCm39) M506K probably benign Het
Duox2 A T 2: 122,125,145 (GRCm39) H352Q probably benign Het
Fcgbpl1 T C 7: 27,854,060 (GRCm39) Y1675H probably damaging Het
Fsip2 A G 2: 82,808,174 (GRCm39) T1498A probably benign Het
Gcn1 A T 5: 115,751,826 (GRCm39) Q2067L possibly damaging Het
Get4 G T 5: 139,249,384 (GRCm39) probably null Het
Gm6370 G A 5: 146,430,453 (GRCm39) A213T possibly damaging Het
Gpr135 T C 12: 72,117,047 (GRCm39) Y240C probably damaging Het
Gstm5 T A 3: 107,805,347 (GRCm39) L145Q probably damaging Het
Hoxb3 T C 11: 96,236,986 (GRCm39) Y355H probably damaging Het
Hsf2 A C 10: 57,372,370 (GRCm39) K108Q probably damaging Het
Kdm3a T C 6: 71,577,718 (GRCm39) N694S probably benign Het
Lrpap1 G A 5: 35,253,411 (GRCm39) probably benign Het
Mapk8ip3 T C 17: 25,118,532 (GRCm39) T1162A probably damaging Het
Mettl14 T C 3: 123,168,540 (GRCm39) probably benign Het
Mrgprx1 T C 7: 47,671,477 (GRCm39) Y90C probably benign Het
Mybpc3 A T 2: 90,951,368 (GRCm39) probably null Het
Nup88 C T 11: 70,860,518 (GRCm39) G87D probably benign Het
Or5w20 A G 2: 87,727,317 (GRCm39) Y258C possibly damaging Het
Or7d9 A T 9: 20,197,756 (GRCm39) T254S probably benign Het
Or9i1 C T 19: 13,839,187 (GRCm39) T10M probably damaging Het
Pan2 G A 10: 128,156,221 (GRCm39) E1133K probably benign Het
Pcsk2 T C 2: 143,635,045 (GRCm39) S307P probably damaging Het
Pdgfa C T 5: 138,971,950 (GRCm39) V150I probably damaging Het
Phf12 T C 11: 77,875,022 (GRCm39) C83R probably damaging Het
Pla2g2c A G 4: 138,463,319 (GRCm39) Y71C probably damaging Het
Pou2f2 T A 7: 24,797,107 (GRCm39) Q218L probably damaging Het
Prl8a9 C T 13: 27,743,353 (GRCm39) V151I possibly damaging Het
Prop1 T C 11: 50,842,911 (GRCm39) D92G probably damaging Het
Rnf13 A G 3: 57,703,644 (GRCm39) Y116C probably damaging Het
Ro60 A G 1: 143,637,013 (GRCm39) C400R possibly damaging Het
Slc44a5 T C 3: 153,944,796 (GRCm39) Y138H possibly damaging Het
Stra6 G A 9: 58,047,752 (GRCm39) V108M probably benign Het
Tspan10 G T 11: 120,337,198 (GRCm39) A323S probably benign Het
Ttc22 T A 4: 106,495,687 (GRCm39) V347D probably damaging Het
Ugt1a10 C T 1: 87,983,780 (GRCm39) L193F probably benign Het
Vps13d G T 4: 144,894,716 (GRCm39) H457N probably benign Het
Vrtn A G 12: 84,695,607 (GRCm39) Y119C probably damaging Het
Xpnpep3 T C 15: 81,311,657 (GRCm39) F121S probably damaging Het
Other mutations in Scrib
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Scrib APN 15 75,920,643 (GRCm39) missense possibly damaging 0.49
IGL00905:Scrib APN 15 75,936,839 (GRCm39) missense probably damaging 0.96
IGL01529:Scrib APN 15 75,921,084 (GRCm39) missense possibly damaging 0.66
IGL01896:Scrib APN 15 75,937,967 (GRCm39) missense possibly damaging 0.75
IGL01947:Scrib APN 15 75,933,616 (GRCm39) missense probably benign 0.01
IGL02372:Scrib APN 15 75,920,104 (GRCm39) missense probably damaging 0.99
IGL02880:Scrib APN 15 75,937,973 (GRCm39) missense probably damaging 1.00
IGL02959:Scrib APN 15 75,937,056 (GRCm39) missense probably damaging 0.99
R0605:Scrib UTSW 15 75,939,402 (GRCm39) missense possibly damaging 0.89
R0711:Scrib UTSW 15 75,938,756 (GRCm39) unclassified probably benign
R0757:Scrib UTSW 15 75,934,599 (GRCm39) small deletion probably benign
R0903:Scrib UTSW 15 75,938,704 (GRCm39) missense possibly damaging 0.95
R0959:Scrib UTSW 15 75,923,310 (GRCm39) missense probably benign 0.34
R1483:Scrib UTSW 15 75,929,771 (GRCm39) missense probably damaging 1.00
R1551:Scrib UTSW 15 75,937,011 (GRCm39) missense probably damaging 1.00
R1604:Scrib UTSW 15 75,920,089 (GRCm39) missense probably damaging 0.97
R1613:Scrib UTSW 15 75,920,391 (GRCm39) missense probably damaging 1.00
R1615:Scrib UTSW 15 75,938,054 (GRCm39) missense probably benign 0.39
R1681:Scrib UTSW 15 75,936,416 (GRCm39) missense probably damaging 1.00
R3110:Scrib UTSW 15 75,941,223 (GRCm39) missense probably damaging 0.98
R3112:Scrib UTSW 15 75,941,223 (GRCm39) missense probably damaging 0.98
R4050:Scrib UTSW 15 75,923,322 (GRCm39) missense possibly damaging 0.91
R4660:Scrib UTSW 15 75,937,185 (GRCm39) missense probably damaging 0.98
R4976:Scrib UTSW 15 75,923,602 (GRCm39) critical splice donor site probably null
R5119:Scrib UTSW 15 75,923,602 (GRCm39) critical splice donor site probably null
R5243:Scrib UTSW 15 75,937,101 (GRCm39) missense probably benign 0.00
R5246:Scrib UTSW 15 75,936,646 (GRCm39) missense probably benign 0.19
R5483:Scrib UTSW 15 75,939,508 (GRCm39) critical splice donor site probably null
R5516:Scrib UTSW 15 75,934,712 (GRCm39) missense possibly damaging 0.50
R5628:Scrib UTSW 15 75,921,389 (GRCm39) missense possibly damaging 0.66
R5787:Scrib UTSW 15 75,931,151 (GRCm39) missense probably damaging 1.00
R5894:Scrib UTSW 15 75,939,581 (GRCm39) missense probably damaging 0.99
R6005:Scrib UTSW 15 75,929,600 (GRCm39) missense probably damaging 1.00
R6041:Scrib UTSW 15 75,939,021 (GRCm39) missense possibly damaging 0.93
R6351:Scrib UTSW 15 75,936,835 (GRCm39) missense possibly damaging 0.65
R6603:Scrib UTSW 15 75,934,572 (GRCm39) missense probably benign 0.00
R7298:Scrib UTSW 15 75,936,610 (GRCm39) missense probably damaging 1.00
R7344:Scrib UTSW 15 75,921,107 (GRCm39) missense probably damaging 1.00
R7428:Scrib UTSW 15 75,933,047 (GRCm39) missense probably damaging 1.00
R7486:Scrib UTSW 15 75,929,499 (GRCm39) missense probably damaging 1.00
R7764:Scrib UTSW 15 75,919,242 (GRCm39) makesense probably null
R7994:Scrib UTSW 15 75,936,431 (GRCm39) missense probably damaging 1.00
R8084:Scrib UTSW 15 75,937,940 (GRCm39) missense probably benign 0.07
R8096:Scrib UTSW 15 75,934,558 (GRCm39) missense probably benign
R8157:Scrib UTSW 15 75,931,037 (GRCm39) missense possibly damaging 0.52
R8217:Scrib UTSW 15 75,939,004 (GRCm39) missense probably damaging 0.99
R8693:Scrib UTSW 15 75,936,354 (GRCm39) missense probably damaging 0.98
R8731:Scrib UTSW 15 75,935,488 (GRCm39) missense probably benign
R8922:Scrib UTSW 15 75,933,587 (GRCm39) critical splice donor site probably null
R9163:Scrib UTSW 15 75,921,108 (GRCm39) missense probably damaging 1.00
R9457:Scrib UTSW 15 75,939,148 (GRCm39) missense probably damaging 1.00
R9646:Scrib UTSW 15 75,932,492 (GRCm39) missense probably damaging 1.00
Z1088:Scrib UTSW 15 75,920,080 (GRCm39) missense probably damaging 0.99
Z1177:Scrib UTSW 15 75,929,619 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16