Incidental Mutation 'IGL00434:Scai'
ID7218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scai
Ensembl Gene ENSMUSG00000035236
Gene Namesuppressor of cancer cell invasion
SynonymsA930041I02Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.605) question?
Stock #IGL00434
Quality Score
Status
Chromosome2
Chromosomal Location39066214-39190734 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 39108394 bp
ZygosityHeterozygous
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

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 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

DomainStartEndE-ValueType
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