Incidental Mutation 'R0904:Scai'
ID 83235
Institutional Source Beutler Lab
Gene Symbol Scai
Ensembl Gene ENSMUSG00000035236
Gene Name suppressor of cancer cell invasion
Synonyms A930041I02Rik
MMRRC Submission 039062-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.533) question?
Stock # R0904 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 38956226-39080746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38965164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 560 (T560M)
Ref Sequence ENSEMBL: ENSMUSP00000037194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038874] [ENSMUST00000147433] [ENSMUST00000204093] [ENSMUST00000204404] [ENSMUST00000204500]
AlphaFold Q8C8N2
Predicted Effect possibly damaging
Transcript: ENSMUST00000038874
AA Change: T560M

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037194
Gene: ENSMUSG00000035236
AA Change: T560M

DomainStartEndE-ValueType
Pfam:DUF3550 64 557 6.1e-216 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147433
Predicted Effect probably benign
Transcript: ENSMUST00000204093
SMART Domains Protein: ENSMUSP00000145133
Gene: ENSMUSG00000035236

DomainStartEndE-ValueType
Pfam:DUF3550 64 480 2.5e-177 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204404
Predicted Effect probably benign
Transcript: ENSMUST00000204500
SMART Domains Protein: ENSMUSP00000144844
Gene: ENSMUSG00000035236

DomainStartEndE-ValueType
Pfam:DUF3550 1 77 3.2e-23 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 89% (34/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mice of both sexes are sub-fertile owing to compromised meiotic synapsis and homologous recombination-mediated double-strand break DNA repair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,975,118 (GRCm39) probably benign Het
Abca13 T C 11: 9,248,740 (GRCm39) V2829A probably benign Het
Adk G T 14: 21,142,496 (GRCm39) D26Y probably damaging Het
Bpifb9a T C 2: 154,106,145 (GRCm39) probably benign Het
Dap G A 15: 31,272,526 (GRCm39) probably benign Het
Eqtn A T 4: 94,795,892 (GRCm39) S270T probably benign Het
Fam193a A G 5: 34,619,487 (GRCm39) D764G probably damaging Het
Fbxl6 A T 15: 76,421,283 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,268,014 (GRCm39) probably benign Het
H2-D1 G C 17: 35,482,837 (GRCm39) M122I probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Map1s C A 8: 71,366,832 (GRCm39) P579Q probably damaging Het
Mapk10 A G 5: 103,135,146 (GRCm39) probably benign Het
Mllt6 C G 11: 97,555,824 (GRCm39) C51W probably damaging Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Neurod2 G T 11: 98,218,147 (GRCm39) T339K probably benign Het
Nfya G A 17: 48,702,815 (GRCm39) Q29* probably null Het
Nipbl A T 15: 8,391,202 (GRCm39) D257E probably benign Het
Pate5 T C 9: 35,750,366 (GRCm39) D102G probably damaging Het
Pex5 G A 6: 124,376,896 (GRCm39) probably benign Het
Pramel47 A C 5: 95,489,186 (GRCm39) T210P probably damaging Het
Prx T A 7: 27,217,719 (GRCm39) F879Y probably damaging Het
Resf1 G A 6: 149,229,767 (GRCm39) A938T probably damaging Het
Slfn10-ps T C 11: 82,926,235 (GRCm39) noncoding transcript Het
Spdye4b A G 5: 143,181,423 (GRCm39) probably benign Het
Ss18l1 A G 2: 179,701,147 (GRCm39) Y287C probably damaging Het
Tpbg C A 9: 85,726,617 (GRCm39) F195L unknown Het
Trbv16 T C 6: 41,128,781 (GRCm39) probably benign Het
Unc5c A G 3: 141,509,601 (GRCm39) T620A probably benign Het
Vangl1 A G 3: 102,091,310 (GRCm39) S259P probably damaging Het
Vmn1r52 T A 6: 90,156,446 (GRCm39) M71K probably damaging Het
Vmn2r23 A T 6: 123,719,094 (GRCm39) I816F probably damaging Het
Zfp268 T C 4: 145,348,745 (GRCm39) Y61H possibly damaging Het
Other mutations in Scai
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Scai APN 2 38,998,406 (GRCm39) missense probably damaging 1.00
IGL01366:Scai APN 2 38,996,973 (GRCm39) missense probably benign 0.36
IGL01739:Scai APN 2 38,984,803 (GRCm39) splice site probably benign
IGL02251:Scai APN 2 38,989,429 (GRCm39) missense probably benign 0.01
IGL02274:Scai APN 2 38,992,329 (GRCm39) unclassified probably benign
R0239:Scai UTSW 2 38,965,054 (GRCm39) missense probably benign 0.00
R0239:Scai UTSW 2 38,965,054 (GRCm39) missense probably benign 0.00
R0685:Scai UTSW 2 38,993,749 (GRCm39) missense probably damaging 0.96
R1655:Scai UTSW 2 38,970,129 (GRCm39) missense possibly damaging 0.79
R1820:Scai UTSW 2 38,996,990 (GRCm39) missense possibly damaging 0.82
R1913:Scai UTSW 2 38,970,093 (GRCm39) missense probably damaging 1.00
R2068:Scai UTSW 2 39,013,025 (GRCm39) missense probably damaging 1.00
R2183:Scai UTSW 2 38,970,138 (GRCm39) missense probably benign 0.00
R3237:Scai UTSW 2 39,040,326 (GRCm39) splice site probably benign
R3933:Scai UTSW 2 38,965,064 (GRCm39) missense probably benign 0.44
R5460:Scai UTSW 2 38,973,586 (GRCm39) missense probably damaging 1.00
R5460:Scai UTSW 2 38,973,585 (GRCm39) missense probably damaging 1.00
R6089:Scai UTSW 2 38,973,566 (GRCm39) nonsense probably null
R6377:Scai UTSW 2 38,992,340 (GRCm39) missense probably benign 0.02
R6606:Scai UTSW 2 38,965,147 (GRCm39) missense probably benign 0.00
R7034:Scai UTSW 2 39,011,147 (GRCm39) missense probably damaging 1.00
R7037:Scai UTSW 2 39,080,633 (GRCm39) missense probably benign 0.04
R7171:Scai UTSW 2 38,996,948 (GRCm39) missense possibly damaging 0.48
R7451:Scai UTSW 2 39,015,148 (GRCm39) missense probably damaging 1.00
R7737:Scai UTSW 2 39,013,034 (GRCm39) missense probably damaging 0.96
R8856:Scai UTSW 2 38,996,978 (GRCm39) missense probably benign 0.01
R8890:Scai UTSW 2 39,040,400 (GRCm39) intron probably benign
R9040:Scai UTSW 2 38,965,164 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- CCAGACACTTCCAGGTCCAAGTTTAAC -3'
(R):5'- AGTAGCCAAATGTGATTGTGCTCTCC -3'

Sequencing Primer
(F):5'- CCAGGTCCAAGTTTAACTTATGG -3'
(R):5'- ATTGTGCTCTCCAGAAGGC -3'
Posted On 2013-11-08