Incidental Mutation 'R5628:Scrib'
ID 501346
Institutional Source Beutler Lab
Gene Symbol Scrib
Ensembl Gene ENSMUSG00000022568
Gene Name scribbled planar cell polarity
Synonyms Scrb1, Crc
MMRRC Submission 043167-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5628 (G1)
Quality Score 194
Status Not validated
Chromosome 15
Chromosomal Location 75919011-75941633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75921389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 30 (T30A)
Ref Sequence ENSEMBL: ENSMUSP00000114573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002603] [ENSMUST00000063747] [ENSMUST00000109946] [ENSMUST00000145830] [ENSMUST00000148211] [ENSMUST00000187868]
AlphaFold Q80U72
Predicted Effect probably benign
Transcript: ENSMUST00000002603
AA Change: T1290A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: T1290A

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: 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 probably benign
Transcript: ENSMUST00000145830
SMART Domains Protein: ENSMUSP00000115329
Gene: ENSMUSG00000022568

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000148211
AA Change: T30A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114573
Gene: ENSMUSG00000022568
AA Change: T30A

DomainStartEndE-ValueType
low complexity region 46 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230104
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,208,747 (GRCm39) D671G probably benign Het
Ap3b1 A G 13: 94,613,556 (GRCm39) D685G unknown Het
Atp6v1h G A 1: 5,206,112 (GRCm39) W358* probably null Het
Atr T A 9: 95,756,279 (GRCm39) Y830* probably null Het
B3galnt2 A T 13: 14,169,737 (GRCm39) probably null Het
Casz1 T C 4: 149,030,553 (GRCm39) Y1191H probably damaging Het
Cdc40 T G 10: 40,727,049 (GRCm39) E169D probably benign Het
Cep55 C T 19: 38,058,396 (GRCm39) Q330* probably null Het
Clcn1 T C 6: 42,275,823 (GRCm39) V315A probably damaging Het
Cmya5 A G 13: 93,226,218 (GRCm39) F2957L probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dync1li2 T C 8: 105,147,224 (GRCm39) N490S possibly damaging Het
Ephb3 T C 16: 21,036,869 (GRCm39) Y111H probably damaging Het
Fam186a A C 15: 99,839,628 (GRCm39) H2205Q possibly damaging Het
Fat3 T C 9: 15,877,392 (GRCm39) Y3407C probably damaging Het
Fbxw8 A G 5: 118,230,622 (GRCm39) V393A probably damaging Het
Fnip1 A T 11: 54,394,459 (GRCm39) D965V probably benign Het
Gramd2a T C 9: 59,615,006 (GRCm39) M3T probably benign Het
Kctd15 T C 7: 34,339,720 (GRCm39) D283G probably damaging Het
Kif9 C T 9: 110,343,621 (GRCm39) R547* probably null Het
Map4 A G 9: 109,910,915 (GRCm39) T245A probably benign Het
Mindy4 C T 6: 55,237,579 (GRCm39) L385F probably damaging Het
Myo7b A G 18: 32,107,240 (GRCm39) C1252R probably benign Het
Myt1l T A 12: 29,861,620 (GRCm39) I134N unknown Het
Or5m10b T A 2: 85,699,149 (GRCm39) I71N probably damaging Het
Osgin2 T A 4: 15,998,998 (GRCm39) N208I probably benign Het
Polr2b G A 5: 77,461,063 (GRCm39) V29M probably damaging Het
Prdm15 T A 16: 97,600,823 (GRCm39) M812L probably damaging Het
Prr36 TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC 8: 4,266,273 (GRCm39) probably benign Het
Rev3l T A 10: 39,698,963 (GRCm39) N1153K probably damaging Het
Rnf17 A G 14: 56,724,409 (GRCm39) probably null Het
Rusc2 C T 4: 43,425,348 (GRCm39) T1151M probably damaging Het
Sephs1 T C 2: 4,894,018 (GRCm39) I73T probably benign Het
Sf3b1 C T 1: 55,037,334 (GRCm39) A861T probably benign Het
Shq1 A G 6: 100,607,964 (GRCm39) W316R probably damaging Het
Slc26a5 T A 5: 22,021,974 (GRCm39) D484V probably benign Het
Smg1 C T 7: 117,753,924 (GRCm39) probably benign Het
Stard5 T C 7: 83,282,355 (GRCm39) I56T probably benign Het
Szt2 A G 4: 118,230,414 (GRCm39) V2653A unknown Het
Tmem217 A T 17: 29,745,430 (GRCm39) I100N probably damaging Het
Trpm2 C T 10: 77,748,470 (GRCm39) R1400Q probably benign Het
Vmn1r82 T G 7: 12,039,205 (GRCm39) N41K probably damaging Het
Zfp236 T C 18: 82,675,247 (GRCm39) D367G probably damaging Het
Zfyve1 A T 12: 83,621,663 (GRCm39) V244E 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
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
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'- ACATTGGCTGGCAGTTCATCAG -3'
(R):5'- AGTGTGTCCTTGTAGCCTGC -3'

Sequencing Primer
(F):5'- AGCTTTCCCAGTGCAGC -3'
(R):5'- GTAGCCTGCTTGTCTCCAG -3'
Posted On 2017-12-01