Incidental Mutation 'R6268:Scyl3'
ID 507128
Institutional Source Beutler Lab
Gene Symbol Scyl3
Ensembl Gene ENSMUSG00000026584
Gene Name SCY1-like 3 (S. cerevisiae)
Synonyms 1200016D23Rik, Pace1
MMRRC Submission 044439-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R6268 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 163756669-163782695 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 163773786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 324 (R324*)
Ref Sequence ENSEMBL: ENSMUSP00000132109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027876] [ENSMUST00000097493] [ENSMUST00000159516] [ENSMUST00000161908] [ENSMUST00000162234] [ENSMUST00000170359]
AlphaFold Q9DBQ7
Predicted Effect probably null
Transcript: ENSMUST00000027876
AA Change: R337*
SMART Domains Protein: ENSMUSP00000027876
Gene: ENSMUSG00000026584
AA Change: R337*

DomainStartEndE-ValueType
Pfam:Pkinase 32 245 1.9e-7 PFAM
low complexity region 525 541 N/A INTRINSIC
low complexity region 711 731 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097493
SMART Domains Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:DUF4487 233 779 1.3e-186 PFAM
low complexity region 877 889 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159516
Predicted Effect probably null
Transcript: ENSMUST00000161908
AA Change: R324*
SMART Domains Protein: ENSMUSP00000125735
Gene: ENSMUSG00000026584
AA Change: R324*

DomainStartEndE-ValueType
Pfam:Pkinase 25 274 1.5e-8 PFAM
low complexity region 512 528 N/A INTRINSIC
low complexity region 698 718 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162920
Predicted Effect probably null
Transcript: ENSMUST00000170359
AA Change: R324*
SMART Domains Protein: ENSMUSP00000132109
Gene: ENSMUSG00000026584
AA Change: R324*

DomainStartEndE-ValueType
Pfam:Pkinase 25 274 1.5e-8 PFAM
low complexity region 512 528 N/A INTRINSIC
low complexity region 698 718 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163033
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,545,219 (GRCm39) I78T probably benign Het
Afg3l1 A T 8: 124,219,665 (GRCm39) I398F probably damaging Het
Ahctf1 T C 1: 179,591,048 (GRCm39) H1244R probably benign Het
Ank1 A T 8: 23,599,687 (GRCm39) K797N probably damaging Het
Anxa6 G T 11: 54,877,903 (GRCm39) probably null Het
Aoc1l1 T A 6: 48,954,616 (GRCm39) Y585N probably benign Het
Ap1b1 T A 11: 4,969,493 (GRCm39) V310E probably damaging Het
C2cd2l T C 9: 44,228,963 (GRCm39) I123V probably damaging Het
Cars2 TCCCC TCCC 8: 11,579,599 (GRCm39) probably null Het
Cfap54 T A 10: 92,874,771 (GRCm39) I542F probably damaging Het
Cfap57 G T 4: 118,426,648 (GRCm39) Y1100* probably null Het
Coq9 A G 8: 95,576,862 (GRCm39) E158G probably benign Het
Cox15 A T 19: 43,728,365 (GRCm39) W303R possibly damaging Het
Cpa5 A G 6: 30,615,172 (GRCm39) Y103C probably damaging Het
Crygn A T 5: 24,961,189 (GRCm39) V39E probably damaging Het
Csf1 G T 3: 107,654,473 (GRCm39) S132R possibly damaging Het
Dapk1 G A 13: 60,909,580 (GRCm39) V1398M possibly damaging Het
Degs2 C A 12: 108,658,839 (GRCm39) V47L probably damaging Het
Dock5 C A 14: 68,027,724 (GRCm39) E1057* probably null Het
Dsg1b C A 18: 20,521,220 (GRCm39) Q26K probably benign Het
Elp1 T C 4: 56,762,305 (GRCm39) Y1098C probably damaging Het
Fam181a T C 12: 103,282,803 (GRCm39) V236A possibly damaging Het
Fam78b C A 1: 166,906,122 (GRCm39) P94T probably damaging Het
Fbxw25 T G 9: 109,483,718 (GRCm39) T165P probably damaging Het
Flg C A 3: 93,195,482 (GRCm39) probably benign Het
Frrs1 G T 3: 116,696,748 (GRCm39) V573F probably damaging Het
Gm7298 A G 6: 121,756,032 (GRCm39) T964A possibly damaging Het
Hoxd9 G T 2: 74,528,433 (GRCm39) V12L probably damaging Het
Kcnt1 A G 2: 25,793,609 (GRCm39) probably null Het
Klhl3 G T 13: 58,161,656 (GRCm39) R480S probably damaging Het
Klhl36 A G 8: 120,597,406 (GRCm39) D369G probably damaging Het
Lama3 T A 18: 12,657,794 (GRCm39) N303K probably damaging Het
Lhcgr T C 17: 89,050,132 (GRCm39) T465A probably damaging Het
Llgl1 T C 11: 60,602,989 (GRCm39) V888A probably benign Het
Lrp1b T A 2: 40,711,729 (GRCm39) T3164S probably benign Het
Mmp3 T G 9: 7,447,622 (GRCm39) D202E possibly damaging Het
Mocs1 C A 17: 49,742,183 (GRCm39) T104K probably damaging Het
Mrpl42 A T 10: 95,332,569 (GRCm39) probably null Het
Mtch2 T C 2: 90,693,992 (GRCm39) C279R probably benign Het
Muc4 A T 16: 32,589,141 (GRCm39) D2836V probably damaging Het
Myh7 T C 14: 55,226,741 (GRCm39) E370G probably benign Het
Naa11 A G 5: 97,540,069 (GRCm39) Y30H probably damaging Het
Ntng1 T C 3: 109,842,351 (GRCm39) T141A probably damaging Het
Or5h26 A C 16: 58,987,656 (GRCm39) probably null Het
Or8c11 T C 9: 38,289,384 (GRCm39) I69T probably benign Het
Or9i14 A T 19: 13,792,671 (GRCm39) Y94* probably null Het
Pcdha12 G A 18: 37,155,477 (GRCm39) C732Y possibly damaging Het
Plekhm2 G A 4: 141,359,652 (GRCm39) Q392* probably null Het
Prr22 G A 17: 57,078,587 (GRCm39) V247M probably damaging Het
Rapgef6 T A 11: 54,540,073 (GRCm39) L716Q probably damaging Het
Rasgrp4 G A 7: 28,842,493 (GRCm39) V246I probably damaging Het
Rhbdd2 C T 5: 135,672,114 (GRCm39) T323I probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Scgb2b20 A T 7: 33,063,973 (GRCm39) I99K possibly damaging Het
Slc23a1 T C 18: 35,752,624 (GRCm39) Y551C probably damaging Het
Slc5a5 A T 8: 71,341,264 (GRCm39) S358R probably damaging Het
Sorcs3 T A 19: 48,778,605 (GRCm39) N1007K probably damaging Het
Stxbp4 T A 11: 90,431,027 (GRCm39) K428* probably null Het
Tmem63c T A 12: 87,128,727 (GRCm39) I584N probably damaging Het
Traf3ip3 C T 1: 192,880,344 (GRCm39) probably benign Het
Trgv2 G A 13: 19,521,001 (GRCm39) T31I probably benign Het
Ttll3 C T 6: 113,369,524 (GRCm39) R23C probably benign Het
Ugt2a3 A C 5: 87,477,472 (GRCm39) L309R probably damaging Het
Urb1 A G 16: 90,550,807 (GRCm39) M2015T probably benign Het
Vmn2r14 A C 5: 109,369,283 (GRCm39) S97A possibly damaging Het
Vps13c C A 9: 67,858,731 (GRCm39) T2727K probably benign Het
Xrn1 T A 9: 95,846,067 (GRCm39) I40K probably damaging Het
Zc3h11a A G 1: 133,552,295 (GRCm39) V604A probably benign Het
Zfp410 G A 12: 84,378,612 (GRCm39) R259H probably benign Het
Zfp748 A G 13: 67,690,705 (GRCm39) V185A possibly damaging Het
Other mutations in Scyl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Scyl3 APN 1 163,762,338 (GRCm39) nonsense probably null
IGL03410:Scyl3 APN 1 163,772,436 (GRCm39) missense probably damaging 1.00
R0017:Scyl3 UTSW 1 163,767,538 (GRCm39) missense possibly damaging 0.53
R0017:Scyl3 UTSW 1 163,767,538 (GRCm39) missense possibly damaging 0.53
R1138:Scyl3 UTSW 1 163,761,234 (GRCm39) missense possibly damaging 0.47
R1363:Scyl3 UTSW 1 163,778,259 (GRCm39) missense probably benign 0.01
R1564:Scyl3 UTSW 1 163,767,553 (GRCm39) critical splice donor site probably null
R1843:Scyl3 UTSW 1 163,778,244 (GRCm39) missense probably benign
R1856:Scyl3 UTSW 1 163,761,265 (GRCm39) splice site probably null
R3873:Scyl3 UTSW 1 163,778,206 (GRCm39) missense probably benign 0.00
R4018:Scyl3 UTSW 1 163,764,068 (GRCm39) missense possibly damaging 0.83
R4746:Scyl3 UTSW 1 163,776,820 (GRCm39) missense probably damaging 1.00
R4940:Scyl3 UTSW 1 163,762,316 (GRCm39) missense probably damaging 1.00
R5408:Scyl3 UTSW 1 163,782,245 (GRCm39) splice site probably null
R6125:Scyl3 UTSW 1 163,778,145 (GRCm39) missense probably benign
R6374:Scyl3 UTSW 1 163,776,783 (GRCm39) missense probably benign 0.12
R7397:Scyl3 UTSW 1 163,778,487 (GRCm39) splice site probably null
R7489:Scyl3 UTSW 1 163,776,745 (GRCm39) missense possibly damaging 0.94
R7529:Scyl3 UTSW 1 163,771,438 (GRCm39) missense probably damaging 0.99
R7615:Scyl3 UTSW 1 163,777,907 (GRCm39) splice site probably null
R8089:Scyl3 UTSW 1 163,763,996 (GRCm39) missense possibly damaging 0.69
R9162:Scyl3 UTSW 1 163,773,891 (GRCm39) missense probably benign 0.36
R9332:Scyl3 UTSW 1 163,764,007 (GRCm39) missense probably damaging 1.00
R9559:Scyl3 UTSW 1 163,779,773 (GRCm39) missense probably benign
R9739:Scyl3 UTSW 1 163,771,419 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGAGACGGAAAAGCCTTGATG -3'
(R):5'- GACAAGGTTTGACACACTCCC -3'

Sequencing Primer
(F):5'- CCTTGATGTTATTGAACCCACAGCAG -3'
(R):5'- AGGTTTGACACACTCCCACTGC -3'
Posted On 2018-03-15