Incidental Mutation 'R0711:Scrib'
ID 62764
Institutional Source Beutler Lab
Gene Symbol Scrib
Ensembl Gene ENSMUSG00000022568
Gene Name scribbled planar cell polarity
Synonyms Scrb1, Crc
MMRRC Submission 038894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0711 (G1)
Quality Score 103
Status Validated
Chromosome 15
Chromosomal Location 75919011-75941633 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 75938756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002599] [ENSMUST00000002603] [ENSMUST00000063747] [ENSMUST00000100527] [ENSMUST00000109946] [ENSMUST00000227316]
AlphaFold Q80U72
Predicted Effect probably benign
Transcript: ENSMUST00000002599
SMART Domains Protein: ENSMUSP00000002599
Gene: ENSMUSG00000002524

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 103 114 N/A INTRINSIC
RRM 118 191 1.21e-22 SMART
RRM 215 288 1.6e-22 SMART
low complexity region 290 338 N/A INTRINSIC
low complexity region 400 420 N/A INTRINSIC
RRM 451 533 7.68e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000002603
SMART Domains Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568

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 benign
Transcript: ENSMUST00000063747
SMART Domains Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568

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 benign
Transcript: ENSMUST00000100527
SMART Domains Protein: ENSMUSP00000098096
Gene: ENSMUSG00000002524

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
RRM 135 208 1.21e-22 SMART
RRM 232 305 1.6e-22 SMART
low complexity region 307 355 N/A INTRINSIC
low complexity region 417 437 N/A INTRINSIC
RRM 468 550 7.68e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109946
SMART Domains Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227251
Predicted Effect probably benign
Transcript: ENSMUST00000227316
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 100% (91/91)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,986 (GRCm39) D1058E probably damaging Het
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Afdn C T 17: 14,072,698 (GRCm39) P874S probably damaging Het
Ankrd6 G A 4: 32,815,326 (GRCm39) A391V probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Asxl3 G T 18: 22,657,508 (GRCm39) M1839I probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Celf2 A G 2: 6,726,226 (GRCm39) probably null Het
Chid1 C T 7: 141,076,590 (GRCm39) V325I probably benign Het
Cnn3 T A 3: 121,243,633 (GRCm39) D31E probably benign Het
Col12a1 G A 9: 79,559,317 (GRCm39) P1857L probably damaging Het
Cpeb1 T A 7: 81,001,618 (GRCm39) R430W probably benign Het
Daw1 T C 1: 83,169,059 (GRCm39) probably benign Het
Dcaf13 A G 15: 39,001,484 (GRCm39) Y264C probably damaging Het
Dnah6 T C 6: 73,064,585 (GRCm39) I2666V probably damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dock10 A T 1: 80,501,692 (GRCm39) F1833I probably damaging Het
Efhd2 C T 4: 141,587,183 (GRCm39) A200T probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Gkn2 T C 6: 87,350,401 (GRCm39) probably benign Het
Golgb1 A T 16: 36,739,152 (GRCm39) Q2497L probably damaging Het
Gzme A T 14: 56,355,196 (GRCm39) M245K probably damaging Het
Iars2 A T 1: 185,054,585 (GRCm39) probably benign Het
Icosl T A 10: 77,909,775 (GRCm39) V240D probably damaging Het
Igsf3 T C 3: 101,334,709 (GRCm39) M262T probably benign Het
Ing3 G T 6: 21,971,236 (GRCm39) E336* probably null Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Mdfi A T 17: 48,143,855 (GRCm39) probably benign Het
Med13 A G 11: 86,192,179 (GRCm39) probably benign Het
Msh6 C T 17: 88,294,112 (GRCm39) R956C probably damaging Het
Myo15b A G 11: 115,774,664 (GRCm39) E670G probably damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Or4s2b A G 2: 88,509,018 (GRCm39) D266G probably damaging Het
Or51ai2 G A 7: 103,587,024 (GRCm39) A146T probably benign Het
Or7g12 T A 9: 18,899,447 (GRCm39) N54K probably benign Het
Pde8b C G 13: 95,244,325 (GRCm39) S143T possibly damaging Het
Pias4 G T 10: 80,993,364 (GRCm39) probably benign Het
Prkca A G 11: 107,872,480 (GRCm39) Y427H probably benign Het
Psg25 G A 7: 18,263,485 (GRCm39) Q113* probably null Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Serpinb9f T A 13: 33,511,904 (GRCm39) W136R probably damaging Het
Skic3 C T 13: 76,331,010 (GRCm39) P1480L probably damaging Het
Skint10 C A 4: 112,573,102 (GRCm39) probably benign Het
Slc25a13 T C 6: 6,117,128 (GRCm39) T196A probably damaging Het
Slc26a5 T C 5: 22,052,230 (GRCm39) H33R probably damaging Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,251 (GRCm39) Y819N probably damaging Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tmco3 T A 8: 13,342,039 (GRCm39) N104K probably damaging Het
Tmem200c A G 17: 69,149,249 (GRCm39) T611A probably damaging Het
Tmem202 T G 9: 59,432,655 (GRCm39) Y24S probably damaging Het
Tpp1 A G 7: 105,398,626 (GRCm39) L230P probably damaging Het
Trim56 C T 5: 137,141,846 (GRCm39) E557K probably benign Het
Trrap C T 5: 144,790,309 (GRCm39) L3590F probably damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Vcp G C 4: 42,986,201 (GRCm39) A297G probably benign Het
Vwf T A 6: 125,603,234 (GRCm39) H861Q probably benign Het
Wdr64 T C 1: 175,599,751 (GRCm39) I536T probably benign Het
Zfp850 T C 7: 27,689,698 (GRCm39) N170S probably benign Het
Zfp87 G A 13: 74,524,544 (GRCm39) probably benign 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
IGL02219:Scrib APN 15 75,936,885 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GTTCTCTGACACATCCAGGCACAC -3'
(R):5'- GAACCTGCTTAAATCTCTCCCTGCG -3'

Sequencing Primer
(F):5'- CTGCAGACAGACAAAAGGTC -3'
(R):5'- TCCACCCAGCAGAGGTAGAG -3'
Posted On 2013-07-30