Incidental Mutation 'R3933:Scai'
ID 308541
Institutional Source Beutler Lab
Gene Symbol Scai
Ensembl Gene ENSMUSG00000035236
Gene Name suppressor of cancer cell invasion
Synonyms A930041I02Rik
MMRRC Submission 040920-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.533) question?
Stock # R3933 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 38956226-39080746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38965064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 593 (D593E)
Ref Sequence ENSEMBL: ENSMUSP00000037194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038874] [ENSMUST00000147433] [ENSMUST00000204093] [ENSMUST00000204404] [ENSMUST00000204500]
AlphaFold Q8C8N2
Predicted Effect probably benign
Transcript: ENSMUST00000038874
AA Change: D593E

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037194
Gene: ENSMUSG00000035236
AA Change: D593E

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 0.1042 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 96% (43/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,304,856 (GRCm39) F3350L probably damaging Het
Acp6 T C 3: 97,073,499 (GRCm39) V146A probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Arhgef33 A G 17: 80,680,749 (GRCm39) I630V probably benign Het
Astn2 G A 4: 66,322,192 (GRCm39) R136C unknown Het
Bcl2l14 A G 6: 134,400,771 (GRCm39) D64G probably damaging Het
C1rl T A 6: 124,485,781 (GRCm39) L384* probably null Het
Ccdc6 TCCGCCGCCGCC TCCGCCGCC 10: 70,025,000 (GRCm39) probably benign Het
Coch T C 12: 51,650,121 (GRCm39) I370T probably damaging Het
Ercc5 T A 1: 44,207,016 (GRCm39) M643K probably benign Het
Fut8 A C 12: 77,522,033 (GRCm39) K557N probably damaging Het
Hsdl2 T C 4: 59,597,274 (GRCm39) Y88H probably damaging Het
Hspg2 T C 4: 137,242,879 (GRCm39) V670A probably damaging Het
Itga8 A G 2: 12,194,330 (GRCm39) I690T probably benign Het
Lepr T C 4: 101,622,498 (GRCm39) probably benign Het
Matn2 T C 15: 34,345,566 (GRCm39) probably null Het
Mei1 A G 15: 81,967,353 (GRCm39) K310E possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msl3 C T X: 167,454,813 (GRCm39) A87T probably damaging Het
Nalf2 G A X: 98,865,470 (GRCm39) V266M possibly damaging Het
Ogdh T C 11: 6,292,601 (GRCm39) V438A possibly damaging Het
Opa1 A T 16: 29,429,698 (GRCm39) E401D probably damaging Het
Or4f17-ps1 T C 2: 111,358,300 (GRCm39) Y232H probably damaging Het
Or5aq6 T A 2: 86,923,106 (GRCm39) I212F probably benign Het
Parp2 G A 14: 51,056,844 (GRCm39) V323M probably benign Het
Pip5k1a A G 3: 94,979,314 (GRCm39) S161P probably benign Het
Pold3 T C 7: 99,770,608 (GRCm39) E8G probably damaging Het
Pomt1 G A 2: 32,135,631 (GRCm39) V332I probably benign Het
Ppp2ca T A 11: 52,010,089 (GRCm39) N232K probably damaging Het
Prune2 A T 19: 17,101,318 (GRCm39) D2274V probably damaging Het
Pwwp2b G A 7: 138,835,950 (GRCm39) V464I possibly damaging Het
Rgs7bp T C 13: 105,189,506 (GRCm39) M98V probably benign Het
Rubcn A G 16: 32,649,629 (GRCm39) probably null Het
Slc24a2 T C 4: 87,094,422 (GRCm39) T366A probably benign Het
Sp100 A G 1: 85,608,830 (GRCm39) I320V probably benign Het
Syngr2 C A 11: 117,704,243 (GRCm39) P206Q probably damaging Het
Tatdn3 A T 1: 190,778,521 (GRCm39) probably null Het
Thsd7a C T 6: 12,555,225 (GRCm39) G220S probably benign Het
Vmn2r10 C A 5: 109,150,088 (GRCm39) A319S possibly damaging Het
Vmn2r11 C T 5: 109,201,260 (GRCm39) A415T probably damaging Het
Vmn2r88 A G 14: 51,651,435 (GRCm39) M258V probably benign Het
Wiz G A 17: 32,576,872 (GRCm39) R561C probably damaging Het
Yju2b G A 8: 84,986,981 (GRCm39) A172V probably benign Het
Zfp422 T C 6: 116,603,420 (GRCm39) K193R probably benign 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
R0904:Scai UTSW 2 38,965,164 (GRCm39) missense possibly damaging 0.90
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
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'- GGAGGTAAGTATCTAATGCCAAGAC -3'
(R):5'- GCATTACCACGTGTTTGAGGG -3'

Sequencing Primer
(F):5'- CCAAGTAACACACTATGTCA -3'
(R):5'- GCATTACCACGTGTTTGAGGGATAAC -3'
Posted On 2015-04-17