Incidental Mutation 'R1820:Scai'
ID 204766
Institutional Source Beutler Lab
Gene Symbol Scai
Ensembl Gene ENSMUSG00000035236
Gene Name suppressor of cancer cell invasion
Synonyms A930041I02Rik
MMRRC Submission 039848-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.533) question?
Stock # R1820 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 38956226-39080746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38996990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 268 (M268K)
Ref Sequence ENSEMBL: ENSMUSP00000037194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038874] [ENSMUST00000147433] [ENSMUST00000204093] [ENSMUST00000204404]
AlphaFold Q8C8N2
Predicted Effect possibly damaging
Transcript: ENSMUST00000038874
AA Change: M268K

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037194
Gene: ENSMUSG00000035236
AA Change: M268K

DomainStartEndE-ValueType
Pfam:DUF3550 64 557 6.1e-216 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131225
Predicted Effect probably benign
Transcript: ENSMUST00000147433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203872
Predicted Effect possibly damaging
Transcript: ENSMUST00000204093
AA Change: M268K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145133
Gene: ENSMUSG00000035236
AA Change: M268K

DomainStartEndE-ValueType
Pfam:DUF3550 64 480 2.5e-177 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204404
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.5%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,197,018 (GRCm39) V197A possibly damaging Het
9230109A22Rik T C 15: 25,139,176 (GRCm39) noncoding transcript Het
Acbd3 A G 1: 180,572,703 (GRCm39) N321S probably benign Het
Actr3b T C 5: 26,054,156 (GRCm39) probably null Het
Aldh5a1 T C 13: 25,111,555 (GRCm39) D124G probably benign Het
Arhgap35 G A 7: 16,295,874 (GRCm39) R1064W possibly damaging Het
Arhgef9 T A X: 94,125,142 (GRCm39) I225F probably damaging Het
Arl16 T C 11: 120,357,587 (GRCm39) T43A probably damaging Het
Camsap3 T C 8: 3,653,485 (GRCm39) W409R probably damaging Het
Cfap43 T A 19: 47,885,655 (GRCm39) H320L probably damaging Het
Chac2 T A 11: 30,927,496 (GRCm39) N141I probably damaging Het
Chtf18 C A 17: 25,944,913 (GRCm39) G211C probably damaging Het
Cplane1 A G 15: 8,299,129 (GRCm39) K3106E unknown Het
Cwf19l1 T A 19: 44,115,826 (GRCm39) Y201F probably benign Het
Dcun1d1 A T 3: 35,973,153 (GRCm39) L114* probably null Het
Fdps A T 3: 89,002,350 (GRCm39) H249Q probably benign Het
Fhip1a T A 3: 85,573,136 (GRCm39) T938S probably damaging Het
Gabrg1 T A 5: 70,931,756 (GRCm39) Y329F probably damaging Het
Kctd8 T A 5: 69,497,684 (GRCm39) I321F probably damaging Het
Kdm5b G T 1: 134,525,408 (GRCm39) R299L possibly damaging Het
Kif23 T C 9: 61,833,720 (GRCm39) T494A possibly damaging Het
Kmt2e A G 5: 23,678,545 (GRCm39) H208R probably damaging Het
Lipo5 A T 19: 33,441,995 (GRCm39) probably null Het
Lrrc28 G T 7: 67,290,859 (GRCm39) T54K probably damaging Het
Luc7l2 G A 6: 38,575,754 (GRCm39) probably null Het
Man2a2 A G 7: 80,008,681 (GRCm39) F899L probably benign Het
Myo9b T C 8: 71,786,002 (GRCm39) I633T probably damaging Het
Nynrin A T 14: 56,107,835 (GRCm39) I981F possibly damaging Het
Or5an1c A T 19: 12,218,612 (GRCm39) S138T probably damaging Het
Or8g28 A G 9: 39,169,695 (GRCm39) I91T possibly damaging Het
Pank1 A G 19: 34,855,084 (GRCm39) probably null Het
Phc2 C T 4: 128,637,336 (GRCm39) A47V probably damaging Het
Plekhs1 A G 19: 56,466,954 (GRCm39) R262G possibly damaging Het
Pnp2 C A 14: 51,201,914 (GRCm39) P300Q possibly damaging Het
Polq T A 16: 36,849,780 (GRCm39) S345T possibly damaging Het
Prag1 A G 8: 36,570,958 (GRCm39) T514A probably benign Het
Psmd5 T C 2: 34,760,758 (GRCm39) probably null Het
Rfx6 T G 10: 51,599,221 (GRCm39) probably null Het
Rhbdd2 G A 5: 135,664,903 (GRCm39) C78Y probably damaging Het
Rnf157 G T 11: 116,245,477 (GRCm39) P313T probably damaging Het
Ryr2 A G 13: 11,602,202 (GRCm39) L4560P probably damaging Het
Scd3 A T 19: 44,230,245 (GRCm39) T343S probably benign Het
Scimp A T 11: 70,682,423 (GRCm39) S98T probably benign Het
Sfrp2 A G 3: 83,680,461 (GRCm39) N207S probably benign Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sis T C 3: 72,828,475 (GRCm39) Y1200C probably damaging Het
Sp1 T A 15: 102,317,511 (GRCm39) S343R possibly damaging Het
Spata31d1a A T 13: 59,849,069 (GRCm39) C1020S possibly damaging Het
Spink5 A G 18: 44,122,486 (GRCm39) N317S possibly damaging Het
Sptbn2 A G 19: 4,776,624 (GRCm39) D224G probably damaging Het
St8sia3 T C 18: 64,402,703 (GRCm39) I114T probably damaging Het
Zscan5b C A 7: 6,242,162 (GRCm39) H460Q probably 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
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
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'- GATTTGACCATTCCTCACAGTTG -3'
(R):5'- TTCTTGAGAGAAAGCTTGTCACC -3'

Sequencing Primer
(F):5'- GACCATTCCTCACAGTTGTAAGGAG -3'
(R):5'- AAGCTTGTCACCGTCATAGG -3'
Posted On 2014-06-23