Incidental Mutation 'R7764:Scrib'
ID 598145
Institutional Source Beutler Lab
Gene Symbol Scrib
Ensembl Gene ENSMUSG00000022568
Gene Name scribbled planar cell polarity
Synonyms Scrb1, Crc
MMRRC Submission 045820-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7764 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 75919011-75941633 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 75919242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 1666 (*1666W)
Ref Sequence ENSEMBL: ENSMUSP00000002603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002603] [ENSMUST00000063747] [ENSMUST00000109946] [ENSMUST00000145830] [ENSMUST00000148211] [ENSMUST00000187868]
AlphaFold Q80U72
Predicted Effect probably null
Transcript: ENSMUST00000002603
AA Change: *1666W
SMART Domains Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: *1666W

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: *1613W
SMART Domains Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: *1613W

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: *1638W
SMART Domains Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: *1638W

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

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148211
SMART Domains Protein: ENSMUSP00000114573
Gene: ENSMUSG00000022568

DomainStartEndE-ValueType
low complexity region 46 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187868
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T G 16: 20,368,040 (GRCm39) L93V probably benign Het
Adss2 A C 1: 177,591,827 (GRCm39) M452R probably damaging Het
Aldh3b1 T A 19: 3,971,563 (GRCm39) K102* probably null Het
Ccdc162 A T 10: 41,566,109 (GRCm39) V78D possibly damaging Het
Ccr3 T C 9: 123,829,451 (GRCm39) V262A probably benign Het
Cdk13 A T 13: 17,895,890 (GRCm39) probably null Het
Cdyl A T 13: 36,000,126 (GRCm39) T136S possibly damaging Het
Chd2 T C 7: 73,121,567 (GRCm39) D1015G probably null Het
Cntn2 C A 1: 132,450,101 (GRCm39) A598S probably benign Het
Cxxc4 G T 3: 133,945,856 (GRCm39) G146C unknown Het
Dnah2 G A 11: 69,348,984 (GRCm39) T2501I probably benign Het
Dock8 T A 19: 25,074,899 (GRCm39) I471N probably benign Het
Eaf2 A G 16: 36,645,045 (GRCm39) V59A probably damaging Het
Egflam T A 15: 7,347,736 (GRCm39) I65F probably damaging Het
Exoc3l A G 8: 106,017,333 (GRCm39) V577A possibly damaging Het
Folh1 A T 7: 86,412,126 (GRCm39) M215K probably benign Het
Fosb T C 7: 19,038,971 (GRCm39) D271G possibly damaging Het
Frmd4b A G 6: 97,272,891 (GRCm39) Y834H probably damaging Het
Fsip2 T C 2: 82,811,252 (GRCm39) S2524P possibly damaging Het
Gbp3 A G 3: 142,271,024 (GRCm39) T143A probably benign Het
Grk2 A T 19: 4,337,391 (GRCm39) L632Q probably damaging Het
Hars1 A T 18: 36,903,237 (GRCm39) D364E probably damaging Het
Hsd17b4 G T 18: 50,279,482 (GRCm39) G154* probably null Het
Kif5c T C 2: 49,617,973 (GRCm39) probably null Het
Kif5c T C 2: 49,639,339 (GRCm39) L800P probably damaging Het
Krt19 T C 11: 100,032,218 (GRCm39) N282S probably benign Het
Med23 T G 10: 24,785,818 (GRCm39) probably null Het
Meltf A G 16: 31,699,085 (GRCm39) Q65R probably benign Het
Mms22l T C 4: 24,598,842 (GRCm39) S1106P probably damaging Het
Mprip A G 11: 59,655,242 (GRCm39) T733A probably damaging Het
Mul1 G A 4: 138,162,080 (GRCm39) G4S possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Mylk G T 16: 34,742,553 (GRCm39) V1022L probably benign Het
Ncald G T 15: 37,397,454 (GRCm39) N75K probably damaging Het
Nfib A G 4: 82,238,731 (GRCm39) S492P possibly damaging Het
Notch2 A T 3: 98,050,304 (GRCm39) I1860F probably damaging Het
Or9i14 A G 19: 13,792,111 (GRCm39) I281T probably benign Het
Oxr1 T C 15: 41,683,263 (GRCm39) S298P probably benign Het
Pcnt T C 10: 76,190,082 (GRCm39) D2818G probably benign Het
Pmpcb G A 5: 21,948,450 (GRCm39) A244T probably damaging Het
Poln A G 5: 34,274,151 (GRCm39) probably null Het
Polr1a G A 6: 71,930,054 (GRCm39) V914M probably damaging Het
Rab15 A C 12: 76,851,215 (GRCm39) probably null Het
Rasgrf1 G T 9: 89,876,747 (GRCm39) S704I possibly damaging Het
Rsf1 GGCGGCGG GGCGGCGGGCGCGGCGG 7: 97,229,134 (GRCm39) probably benign Het
Sart1 C A 19: 5,438,613 (GRCm39) G15W probably damaging Het
Setd1b G C 5: 123,284,622 (GRCm39) R184P unknown Het
Sfxn2 A T 19: 46,574,179 (GRCm39) N123I probably damaging Het
Slc22a3 A G 17: 12,677,383 (GRCm39) W262R probably damaging Het
Slc38a10 A G 11: 119,995,905 (GRCm39) L1064P probably damaging Het
Sorcs2 A T 5: 36,181,416 (GRCm39) S1077R possibly damaging Het
Them7 G T 2: 105,128,171 (GRCm39) E51* probably null Het
Ubc A G 5: 125,465,133 (GRCm39) S65P possibly damaging Het
Ubqln3 A T 7: 103,790,443 (GRCm39) M549K possibly damaging Het
Vmn1r222 A G 13: 23,416,529 (GRCm39) L228P probably damaging Het
Vmn2r60 A G 7: 41,844,535 (GRCm39) T633A probably damaging Het
Zfp382 T C 7: 29,832,700 (GRCm39) V117A probably benign Het
Zic1 C T 9: 91,247,745 (GRCm39) probably benign Het
Zmym4 A T 4: 126,819,409 (GRCm39) F165I 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
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
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'- ACTAGTTACAGTCTCGCCACG -3'
(R):5'- TTGGAAGCATCTCCCAGTCC -3'

Sequencing Primer
(F):5'- ACGAGATCCCGGCTACG -3'
(R):5'- CAGTCCTGGTGAGTAGGCG -3'
Posted On 2019-11-26