Incidental Mutation 'IGL01300:Sipa1l3'
ID 75229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sipa1l3
Ensembl Gene ENSMUSG00000030583
Gene Name signal-induced proliferation-associated 1 like 3
Synonyms 2610511M17Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.591) question?
Stock # IGL01300
Quality Score
Status
Chromosome 7
Chromosomal Location 29019797-29218066 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 29099253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 339 (Q339*)
Ref Sequence ENSEMBL: ENSMUSP00000138171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085809] [ENSMUST00000181975] [ENSMUST00000183096]
AlphaFold G3X9J0
Predicted Effect probably null
Transcript: ENSMUST00000085809
AA Change: Q339*
SMART Domains Protein: ENSMUSP00000082965
Gene: ENSMUSG00000030583
AA Change: Q339*

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
low complexity region 361 380 N/A INTRINSIC
low complexity region 407 419 N/A INTRINSIC
Pfam:Rap_GAP 634 816 1.7e-68 PFAM
PDZ 969 1035 1.39e-8 SMART
low complexity region 1053 1064 N/A INTRINSIC
low complexity region 1190 1201 N/A INTRINSIC
low complexity region 1260 1277 N/A INTRINSIC
low complexity region 1283 1294 N/A INTRINSIC
Pfam:SPAR_C 1471 1721 1.6e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182702
Predicted Effect probably null
Transcript: ENSMUST00000183096
AA Change: Q339*
SMART Domains Protein: ENSMUSP00000138171
Gene: ENSMUSG00000030583
AA Change: Q339*

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
low complexity region 361 380 N/A INTRINSIC
low complexity region 407 419 N/A INTRINSIC
Pfam:Rap_GAP 634 822 6.7e-64 PFAM
PDZ 969 1035 1.39e-8 SMART
low complexity region 1053 1064 N/A INTRINSIC
low complexity region 1190 1201 N/A INTRINSIC
low complexity region 1260 1277 N/A INTRINSIC
low complexity region 1283 1294 N/A INTRINSIC
Pfam:DUF3401 1471 1721 7.2e-94 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 belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small lenses, microphthalmia, cataracts, posterior iris synechia, and abnormal lens fiber morphology. [provided by MGI curators]
Allele List at MGI

All alleles(486) : Gene trapped(486)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa8 A G 14: 33,821,700 (GRCm39) D300G probably benign Het
Cacna1g T C 11: 94,324,738 (GRCm39) H1161R probably benign Het
Col14a1 G A 15: 55,331,372 (GRCm39) R1471Q unknown Het
Gm14496 A T 2: 181,642,753 (GRCm39) E808V probably damaging Het
Gm1968 T C 16: 29,781,038 (GRCm39) noncoding transcript Het
Gzmb G A 14: 56,497,653 (GRCm39) R196C probably benign Het
Hkdc1 A G 10: 62,231,040 (GRCm39) probably benign Het
Itgal T A 7: 126,913,290 (GRCm39) V629E probably damaging Het
Jak2 T A 19: 29,287,083 (GRCm39) Y1050N probably damaging Het
Lrrc69 C T 4: 14,773,663 (GRCm39) probably benign Het
Mmd T C 11: 90,140,537 (GRCm39) M1T probably null Het
Myh6 A G 14: 55,200,548 (GRCm39) V191A possibly damaging Het
Mynn A G 3: 30,667,755 (GRCm39) N485S probably damaging Het
Naa30 C T 14: 49,410,714 (GRCm39) T214M probably damaging Het
Ncoa3 A T 2: 165,910,381 (GRCm39) T1265S probably benign Het
Or10al2 C A 17: 37,983,778 (GRCm39) T288K probably damaging Het
Or1j10 T C 2: 36,267,054 (GRCm39) S89P probably benign Het
Prex1 A G 2: 166,480,327 (GRCm39) C138R possibly damaging Het
Prom2 A T 2: 127,377,009 (GRCm39) L535H probably benign Het
Pros1 T C 16: 62,734,174 (GRCm39) F327L possibly damaging Het
Ros1 A G 10: 51,977,809 (GRCm39) M1479T probably benign Het
Scn9a G A 2: 66,318,397 (GRCm39) Q1465* probably null Het
Serpinb3b A G 1: 107,083,573 (GRCm39) probably benign Het
Slc34a2 A C 5: 53,225,469 (GRCm39) probably null Het
Smc3 T A 19: 53,630,283 (GRCm39) probably benign Het
Tmem30a A G 9: 79,682,382 (GRCm39) probably null Het
Trappc11 A T 8: 47,954,903 (GRCm39) D878E probably benign Het
Trrap C T 5: 144,741,628 (GRCm39) T1325M probably damaging Het
Ttc12 A T 9: 49,359,222 (GRCm39) probably benign Het
Vmn1r237 T A 17: 21,534,337 (GRCm39) I20N probably damaging Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Vmn2r74 A G 7: 85,606,414 (GRCm39) Y311H probably benign Het
Vnn3 T A 10: 23,740,263 (GRCm39) F189I possibly damaging Het
Other mutations in Sipa1l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Sipa1l3 APN 7 29,053,558 (GRCm39) missense probably damaging 0.97
IGL00481:Sipa1l3 APN 7 29,085,533 (GRCm39) missense probably damaging 0.99
IGL01071:Sipa1l3 APN 7 29,023,645 (GRCm39) missense possibly damaging 0.88
IGL01361:Sipa1l3 APN 7 29,048,112 (GRCm39) missense probably damaging 1.00
IGL01380:Sipa1l3 APN 7 29,030,797 (GRCm39) missense possibly damaging 0.94
IGL02083:Sipa1l3 APN 7 29,086,686 (GRCm39) missense probably damaging 1.00
IGL02484:Sipa1l3 APN 7 29,098,956 (GRCm39) missense probably damaging 1.00
IGL02542:Sipa1l3 APN 7 29,087,490 (GRCm39) missense probably damaging 1.00
IGL02645:Sipa1l3 APN 7 29,028,405 (GRCm39) splice site probably null
IGL03410:Sipa1l3 APN 7 29,047,964 (GRCm39) missense probably damaging 1.00
P0014:Sipa1l3 UTSW 7 29,082,640 (GRCm39) missense probably damaging 1.00
R0111:Sipa1l3 UTSW 7 29,047,743 (GRCm39) missense probably damaging 0.99
R0309:Sipa1l3 UTSW 7 29,047,775 (GRCm39) missense probably benign 0.01
R0554:Sipa1l3 UTSW 7 29,087,455 (GRCm39) missense possibly damaging 0.90
R0624:Sipa1l3 UTSW 7 29,086,676 (GRCm39) missense probably damaging 1.00
R0894:Sipa1l3 UTSW 7 29,086,716 (GRCm39) nonsense probably null
R1468:Sipa1l3 UTSW 7 29,021,685 (GRCm39) missense possibly damaging 0.87
R1468:Sipa1l3 UTSW 7 29,021,685 (GRCm39) missense possibly damaging 0.87
R1550:Sipa1l3 UTSW 7 29,082,628 (GRCm39) missense probably benign 0.00
R1850:Sipa1l3 UTSW 7 29,038,551 (GRCm39) missense probably damaging 0.96
R1905:Sipa1l3 UTSW 7 29,038,592 (GRCm39) missense possibly damaging 0.89
R1907:Sipa1l3 UTSW 7 29,038,592 (GRCm39) missense possibly damaging 0.89
R1994:Sipa1l3 UTSW 7 29,099,036 (GRCm39) missense probably benign 0.39
R2228:Sipa1l3 UTSW 7 29,077,364 (GRCm39) nonsense probably null
R2267:Sipa1l3 UTSW 7 29,099,027 (GRCm39) missense probably damaging 1.00
R2341:Sipa1l3 UTSW 7 29,077,060 (GRCm39) missense probably damaging 0.98
R3914:Sipa1l3 UTSW 7 29,099,510 (GRCm39) missense probably benign 0.28
R4197:Sipa1l3 UTSW 7 29,100,238 (GRCm39) missense possibly damaging 0.81
R4559:Sipa1l3 UTSW 7 29,031,678 (GRCm39) missense probably damaging 1.00
R4569:Sipa1l3 UTSW 7 29,025,287 (GRCm39) missense probably damaging 1.00
R4783:Sipa1l3 UTSW 7 29,077,066 (GRCm39) missense probably damaging 1.00
R4784:Sipa1l3 UTSW 7 29,077,066 (GRCm39) missense probably damaging 1.00
R4785:Sipa1l3 UTSW 7 29,077,066 (GRCm39) missense probably damaging 1.00
R4823:Sipa1l3 UTSW 7 29,070,427 (GRCm39) missense probably damaging 1.00
R5057:Sipa1l3 UTSW 7 29,070,618 (GRCm39) missense probably damaging 1.00
R5084:Sipa1l3 UTSW 7 29,048,000 (GRCm39) missense probably damaging 1.00
R5085:Sipa1l3 UTSW 7 29,048,000 (GRCm39) missense probably damaging 1.00
R5086:Sipa1l3 UTSW 7 29,048,000 (GRCm39) missense probably damaging 1.00
R5918:Sipa1l3 UTSW 7 29,096,631 (GRCm39) missense probably damaging 1.00
R5973:Sipa1l3 UTSW 7 29,098,949 (GRCm39) missense probably benign 0.20
R6291:Sipa1l3 UTSW 7 29,087,558 (GRCm39) missense probably damaging 1.00
R6299:Sipa1l3 UTSW 7 29,065,974 (GRCm39) critical splice donor site probably null
R6828:Sipa1l3 UTSW 7 29,038,457 (GRCm39) missense probably benign 0.17
R6914:Sipa1l3 UTSW 7 29,085,516 (GRCm39) missense probably damaging 1.00
R6942:Sipa1l3 UTSW 7 29,085,516 (GRCm39) missense probably damaging 1.00
R7102:Sipa1l3 UTSW 7 29,048,012 (GRCm39) missense possibly damaging 0.74
R7225:Sipa1l3 UTSW 7 29,098,853 (GRCm39) missense probably damaging 1.00
R7310:Sipa1l3 UTSW 7 29,099,121 (GRCm39) missense probably benign
R7429:Sipa1l3 UTSW 7 29,086,631 (GRCm39) missense probably benign 0.24
R7489:Sipa1l3 UTSW 7 29,066,127 (GRCm39) missense probably damaging 1.00
R7789:Sipa1l3 UTSW 7 29,077,150 (GRCm39) missense probably damaging 1.00
R7923:Sipa1l3 UTSW 7 29,038,571 (GRCm39) nonsense probably null
R8041:Sipa1l3 UTSW 7 29,063,645 (GRCm39) missense probably damaging 1.00
R8245:Sipa1l3 UTSW 7 29,099,789 (GRCm39) missense probably damaging 1.00
R9125:Sipa1l3 UTSW 7 29,086,656 (GRCm39) missense probably damaging 0.98
R9313:Sipa1l3 UTSW 7 29,077,439 (GRCm39) missense probably benign 0.38
R9469:Sipa1l3 UTSW 7 29,028,481 (GRCm39) missense possibly damaging 0.62
R9596:Sipa1l3 UTSW 7 29,031,691 (GRCm39) missense probably benign 0.24
Z1177:Sipa1l3 UTSW 7 29,099,859 (GRCm39) missense probably benign 0.06
Z1186:Sipa1l3 UTSW 7 29,031,636 (GRCm39) critical splice donor site probably benign
Z1186:Sipa1l3 UTSW 7 29,031,372 (GRCm39) critical splice donor site probably null
Posted On 2013-10-07