Incidental Mutation 'IGL02251:Scai'
ID286382
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: 0.525) question?
Stock #IGL02251
Quality Score
Status
Chromosome2
Chromosomal Location39066214-39190734 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 39099417 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 401 (D401E)
Ref Sequence ENSEMBL: ENSMUSP00000145133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038874] [ENSMUST00000147433] [ENSMUST00000204093] [ENSMUST00000204404] [ENSMUST00000204500]
Predicted Effect probably benign
Transcript: ENSMUST00000038874
AA Change: D401E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000037194
Gene: ENSMUSG00000035236
AA Change: D401E

DomainStartEndE-ValueType
Pfam:DUF3550 64 557 6.1e-216 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203872
Predicted Effect probably benign
Transcript: ENSMUST00000204093
AA Change: D401E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000145133
Gene: ENSMUSG00000035236
AA Change: D401E

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,977,416 C1406R probably damaging Het
Acp2 T A 2: 91,208,333 probably null Het
Antxr2 A C 5: 97,977,595 probably null Het
Arhgef11 C T 3: 87,683,547 R32C probably damaging Het
Armc6 A T 8: 70,225,220 L153* probably null Het
Btnl2 G T 17: 34,363,239 G260* probably null Het
Ccnf A G 17: 24,226,539 S551P probably benign Het
Cdh19 A G 1: 110,954,652 S37P probably benign Het
Cntnap3 T A 13: 64,762,036 T752S probably damaging Het
Crispld1 A G 1: 17,728,840 M62V probably benign Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dner G T 1: 84,384,026 Q621K probably damaging Het
Dph6 A G 2: 114,535,523 probably null Het
Dpp3 T G 19: 4,918,315 H243P probably benign Het
Eif3j2 T A 18: 43,477,366 K127N probably damaging Het
Esrp1 G A 4: 11,361,202 R315C probably damaging Het
Fam35a T C 14: 34,268,278 R224G probably benign Het
Gm973 A C 1: 59,582,423 H574P probably benign Het
Gprasp1 G A X: 135,800,539 V494I probably benign Het
Hbb-bh1 T A 7: 103,842,810 K66* probably null Het
Hoxb9 T A 11: 96,274,825 M240K probably damaging Het
Irf2 T C 8: 46,807,753 probably null Het
Lgi4 A G 7: 31,067,263 probably null Het
Mylk3 C T 8: 85,355,176 V328M probably benign Het
Nf2 T C 11: 4,848,873 E38G probably null Het
Olfr1286 A C 2: 111,420,312 L213R probably damaging Het
Olfr606 A T 7: 103,451,771 K145* probably null Het
Pdpk1 A G 17: 24,079,638 F346L probably damaging Het
Prex1 T C 2: 166,577,886 Y1120C probably damaging Het
Rab3gap1 A G 1: 127,937,500 T742A probably benign Het
Scd1 T C 19: 44,398,094 H298R probably damaging Het
Slc45a1 A G 4: 150,638,719 probably benign Het
Smim10l1 G T 6: 133,105,508 R6L probably damaging Het
Spag5 T G 11: 78,320,034 F921C probably damaging Het
Sun1 T C 5: 139,241,431 S667P probably damaging Het
Tas2r124 A G 6: 132,755,561 I278V probably benign Het
Thbs1 G A 2: 118,113,518 D206N probably benign Het
Trim37 T A 11: 87,167,430 probably benign Het
Vcp T C 4: 42,988,728 T249A possibly damaging Het
Vmn2r103 A G 17: 19,793,969 N341S possibly damaging Het
Zmat3 A G 3: 32,345,583 probably benign Het
Other mutations in Scai
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Scai APN 2 39108394 missense probably damaging 1.00
IGL01366:Scai APN 2 39106961 missense probably benign 0.36
IGL01739:Scai APN 2 39094791 splice site probably benign
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 On2015-04-16