Incidental Mutation 'IGL00434:Scai'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scai
Ensembl Gene ENSMUSG00000035236
Gene Namesuppressor of cancer cell invasion
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.605) question?
Stock #IGL00434
Quality Score
Chromosomal Location39066214-39190734 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 39108394 bp
Amino Acid Change Leucine to Phenylalanine at position 174 (L174F)
Ref Sequence ENSEMBL: ENSMUSP00000145133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038874] [ENSMUST00000147433] [ENSMUST00000204093] [ENSMUST00000204404]
Predicted Effect probably damaging
Transcript: ENSMUST00000038874
AA Change: L174F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037194
Gene: ENSMUSG00000035236
AA Change: L174F

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 probably damaging
Transcript: ENSMUST00000204093
AA Change: L174F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145133
Gene: ENSMUSG00000035236
AA Change: L174F

Pfam:DUF3550 64 480 2.5e-177 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204404
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 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,987,299 F2609L probably damaging Het
Arid2 T C 15: 96,371,300 V1098A probably damaging Het
Ccdc126 C T 6: 49,334,305 probably benign Het
Cds2 T C 2: 132,293,351 L54P probably damaging Het
Cdsn A T 17: 35,554,843 S90C unknown Het
Clcn6 G T 4: 148,013,738 D581E probably damaging Het
Clec4f T A 6: 83,653,216 H120L possibly damaging Het
Col12a1 T C 9: 79,653,332 T1838A probably benign Het
Col22a1 T C 15: 72,006,675 D211G possibly damaging Het
Cpne8 T C 15: 90,497,058 probably benign Het
Dgkk T A X: 6,906,458 M462K probably benign Het
Dhx29 T A 13: 112,955,225 H834Q probably benign Het
Esyt1 A G 10: 128,517,635 Y578H possibly damaging Het
Fnip2 C A 3: 79,512,489 probably benign Het
Fut1 T G 7: 45,619,431 C270G probably damaging Het
Ganab T A 19: 8,907,343 V170D probably damaging Het
Gm15448 C A 7: 3,823,089 G302C probably damaging Het
Gys1 T A 7: 45,444,832 M364K possibly damaging Het
Ighv1-85 A C 12: 116,000,034 C115W probably damaging Het
Igkv4-74 T G 6: 69,185,060 T42P probably damaging Het
Jmjd4 A G 11: 59,450,495 Y84C probably damaging Het
Kif11 A C 19: 37,411,409 E781D possibly damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Klf1 C T 8: 84,901,999 P9S possibly damaging Het
Lrrn3 T C 12: 41,452,192 probably benign Het
Ltbp4 C A 7: 27,328,805 R309L probably damaging Het
March10 T C 11: 105,402,188 E131G possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mgme1 T A 2: 144,279,136 probably benign Het
Nkiras2 G A 11: 100,624,982 G45D probably damaging Het
Orc2 A T 1: 58,493,716 D16E possibly damaging Het
Pcyox1l T C 18: 61,697,542 T420A probably benign Het
Pm20d1 A G 1: 131,814,000 probably benign Het
Ppp1r3c T C 19: 36,734,103 D89G probably damaging Het
Ppp2ca G A 11: 52,121,949 R302H probably benign Het
Riok3 T C 18: 12,148,847 V291A probably damaging Het
Rragd A G 4: 33,007,219 probably benign Het
Slc25a44 T C 3: 88,416,062 I227V probably benign Het
Slc35f1 T C 10: 53,062,452 L160P probably damaging Het
Slc38a1 A G 15: 96,585,623 Y275H possibly damaging Het
Slco6b1 A G 1: 96,988,650 noncoding transcript Het
Spag8 G T 4: 43,652,890 C190* probably null Het
Tbr1 T C 2: 61,805,281 F192L probably benign Het
Tmem29 A T X: 150,398,399 V132E possibly damaging Het
Tti1 C T 2: 158,008,966 E118K probably damaging Het
Tti1 T A 2: 158,008,965 E118V probably damaging Het
Vcan G T 13: 89,704,702 P713Q probably damaging Het
Wt1 G T 2: 105,144,141 probably null Het
Xylt1 T A 7: 117,650,685 I694N probably damaging Het
Zfp516 T A 18: 82,957,108 M477K probably benign Het
Other mutations in Scai
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Scai APN 2 39106961 missense probably benign 0.36
IGL01739:Scai APN 2 39094791 splice site probably benign
IGL02251:Scai APN 2 39099417 missense probably benign 0.01
IGL02274:Scai APN 2 39102317 unclassified probably benign
R0239:Scai UTSW 2 39075042 missense probably benign 0.00
R0239:Scai UTSW 2 39075042 missense probably benign 0.00
R0685:Scai UTSW 2 39103737 missense probably damaging 0.96
R0904:Scai UTSW 2 39075152 missense possibly damaging 0.90
R1655:Scai UTSW 2 39080117 missense possibly damaging 0.79
R1820:Scai UTSW 2 39106978 missense possibly damaging 0.82
R1913:Scai UTSW 2 39080081 missense probably damaging 1.00
R2068:Scai UTSW 2 39123013 missense probably damaging 1.00
R2183:Scai UTSW 2 39080126 missense probably benign 0.00
R3237:Scai UTSW 2 39150314 splice site probably benign
R3933:Scai UTSW 2 39075052 missense probably benign 0.44
R5460:Scai UTSW 2 39083573 missense probably damaging 1.00
R5460:Scai UTSW 2 39083574 missense probably damaging 1.00
R6089:Scai UTSW 2 39083554 nonsense probably null
R6377:Scai UTSW 2 39102328 missense probably benign 0.02
R6606:Scai UTSW 2 39075135 missense probably benign 0.00
R7034:Scai UTSW 2 39121135 missense probably damaging 1.00
R7037:Scai UTSW 2 39190621 missense probably benign 0.04
R7171:Scai UTSW 2 39106936 missense possibly damaging 0.48
R7451:Scai UTSW 2 39125136 missense probably damaging 1.00
R7737:Scai UTSW 2 39123022 missense probably damaging 0.96
Posted On2012-04-20