Incidental Mutation 'IGL03410:Scyl3'
ID 421738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scyl3
Ensembl Gene ENSMUSG00000026584
Gene Name SCY1-like 3 (S. cerevisiae)
Synonyms 1200016D23Rik, Pace1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # IGL03410
Quality Score
Status
Chromosome 1
Chromosomal Location 163756669-163782695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163772436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 296 (N296S)
Ref Sequence ENSEMBL: ENSMUSP00000132109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027876] [ENSMUST00000097493] [ENSMUST00000159516] [ENSMUST00000161908] [ENSMUST00000162234] [ENSMUST00000170359]
AlphaFold Q9DBQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000027876
AA Change: N296S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027876
Gene: ENSMUSG00000026584
AA Change: N296S

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 damaging
Transcript: ENSMUST00000161908
AA Change: N296S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125735
Gene: ENSMUSG00000026584
AA Change: N296S

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: ENSMUST00000163033
Predicted Effect probably damaging
Transcript: ENSMUST00000170359
AA Change: N296S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132109
Gene: ENSMUSG00000026584
AA Change: N296S

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
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 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,220,728 (GRCm39) V409E probably damaging Het
1700086D15Rik A G 11: 65,043,393 (GRCm39) probably benign Het
Apba1 A G 19: 23,914,945 (GRCm39) N715S possibly damaging Het
Arfgef3 G T 10: 18,476,238 (GRCm39) A1527D probably damaging Het
Cmtm2a G T 8: 105,010,501 (GRCm39) P133T probably damaging Het
Cyp2d9 T C 15: 82,340,900 (GRCm39) V483A probably benign Het
Dclre1b T A 3: 103,715,456 (GRCm39) D14V probably damaging Het
Dock5 T C 14: 68,083,535 (GRCm39) I125V probably benign Het
Dok3 G T 13: 55,672,044 (GRCm39) Y211* probably null Het
Fat4 T C 3: 38,945,325 (GRCm39) V1406A probably damaging Het
Fbn2 A G 18: 58,183,315 (GRCm39) F1790S possibly damaging Het
Gm4787 A T 12: 81,425,948 (GRCm39) M70K probably damaging Het
Gulp1 A T 1: 44,747,777 (GRCm39) D10V probably damaging Het
Hagh T C 17: 25,079,916 (GRCm39) probably benign Het
Htt A G 5: 34,956,789 (GRCm39) E206G probably damaging Het
Hyou1 A G 9: 44,299,355 (GRCm39) E682G probably benign Het
Ift56 T C 6: 38,362,435 (GRCm39) L70P probably damaging Het
Igkv4-59 G T 6: 69,415,450 (GRCm39) A35E probably damaging Het
Krt78 A G 15: 101,862,421 (GRCm39) V80A probably damaging Het
Lars2 G A 9: 123,247,841 (GRCm39) A333T possibly damaging Het
Lrrc4 G A 6: 28,830,515 (GRCm39) R367W probably damaging Het
Med1 A T 11: 98,080,009 (GRCm39) M44K possibly damaging Het
Mep1a T A 17: 43,788,986 (GRCm39) probably null Het
Mmrn1 A G 6: 60,952,819 (GRCm39) I367V probably benign Het
Myo18a T C 11: 77,738,830 (GRCm39) L1677P probably damaging Het
Neb T C 2: 52,209,717 (GRCm39) T246A probably benign Het
Nkiras1 A G 14: 18,280,073 (GRCm38) R155G probably benign Het
Nrip1 T C 16: 76,089,379 (GRCm39) N726S probably benign Het
Nyap2 A G 1: 81,219,156 (GRCm39) T393A possibly damaging Het
Oprm1 A T 10: 6,780,051 (GRCm39) I238F probably damaging Het
Or4b1b A G 2: 90,112,557 (GRCm39) Y121H probably damaging Het
Or4b1d G A 2: 89,969,489 (GRCm39) probably benign Het
Or5m11b T A 2: 85,805,764 (GRCm39) M59K probably damaging Het
Pcnx2 T A 8: 126,613,779 (GRCm39) E557D probably damaging Het
Pole A G 5: 110,472,425 (GRCm39) I1563V probably benign Het
Pramel21 C A 4: 143,341,851 (GRCm39) H93Q probably benign Het
Prdx3 T G 19: 60,859,848 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,669,501 (GRCm39) R295K probably null Het
Rhbdl2 T A 4: 123,723,463 (GRCm39) L289* probably null Het
Rnps1 A G 17: 24,640,835 (GRCm39) probably benign Het
Rpgrip1 A G 14: 52,395,823 (GRCm39) probably benign Het
Ryr2 A T 13: 11,603,033 (GRCm39) Y4518N probably damaging Het
Sipa1l3 G A 7: 29,047,964 (GRCm39) T1308M probably damaging Het
Slc39a9 A G 12: 80,691,662 (GRCm39) D3G probably damaging Het
Slc4a9 A G 18: 36,662,740 (GRCm39) E165G probably benign Het
Slc6a3 A T 13: 73,686,776 (GRCm39) I48F probably benign Het
Stxbp3 C T 3: 108,709,476 (GRCm39) C354Y probably damaging Het
Terb1 C A 8: 105,199,674 (GRCm39) probably benign Het
Tfrc G A 16: 32,443,649 (GRCm39) probably null Het
Toporsl A C 4: 52,611,134 (GRCm39) R342S probably benign Het
Ube2d3 T A 3: 135,170,978 (GRCm39) W141R probably damaging Het
Vps13b G T 15: 35,910,486 (GRCm39) V3417L probably benign Het
Other mutations in Scyl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Scyl3 APN 1 163,762,338 (GRCm39) nonsense probably null
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
R6268:Scyl3 UTSW 1 163,773,786 (GRCm39) nonsense probably null
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
Posted On 2016-08-02