Incidental Mutation 'IGL02484:Sipa1l3'
ID 295352
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 # IGL02484
Quality Score
Status
Chromosome 7
Chromosomal Location 29019797-29218066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29098956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 438 (S438P)
Ref Sequence ENSEMBL: ENSMUSP00000138171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085809] [ENSMUST00000181975] [ENSMUST00000183096]
AlphaFold G3X9J0
Predicted Effect probably damaging
Transcript: ENSMUST00000085809
AA Change: S438P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082965
Gene: ENSMUSG00000030583
AA Change: S438P

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 damaging
Transcript: ENSMUST00000183096
AA Change: S438P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138171
Gene: ENSMUSG00000030583
AA Change: S438P

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A C 7: 29,262,777 (GRCm39) noncoding transcript Het
Araf A G X: 20,720,148 (GRCm39) probably benign Het
Arrb2 T A 11: 70,330,300 (GRCm39) V308E probably damaging Het
Asap3 A G 4: 135,956,768 (GRCm39) probably benign Het
Astn2 G A 4: 65,910,516 (GRCm39) probably benign Het
Cactin T A 10: 81,158,808 (GRCm39) I258N probably benign Het
Calhm6 T C 10: 34,002,400 (GRCm39) T228A probably benign Het
Catsperg1 T C 7: 28,910,345 (GRCm39) probably benign Het
Ccna1 C T 3: 54,955,915 (GRCm39) D146N probably benign Het
Chrna3 T C 9: 54,922,821 (GRCm39) Y329C probably damaging Het
Ctps2 G A X: 161,693,005 (GRCm39) G56D probably damaging Het
Cyp4b1 T C 4: 115,504,754 (GRCm39) D44G probably benign Het
D3Ertd751e A G 3: 41,708,155 (GRCm39) probably null Het
Daxx T C 17: 34,131,216 (GRCm39) V381A probably damaging Het
Dhx37 T A 5: 125,496,401 (GRCm39) I714F possibly damaging Het
Dnah7b T C 1: 46,234,478 (GRCm39) V1470A probably damaging Het
Efl1 T C 7: 82,332,247 (GRCm39) I297T probably damaging Het
Fnd3c2 A T X: 105,289,092 (GRCm39) H442Q probably damaging Het
Glp2r A C 11: 67,630,992 (GRCm39) V126G possibly damaging Het
Gm5699 G T 1: 31,037,843 (GRCm39) noncoding transcript Het
Gpt2 A G 8: 86,242,862 (GRCm39) D298G probably damaging Het
Gse1 G T 8: 121,302,001 (GRCm39) probably benign Het
Hand1 T C 11: 57,722,420 (GRCm39) T65A probably benign Het
Ints8 G A 4: 11,208,834 (GRCm39) Q955* probably null Het
Lrguk C T 6: 34,069,726 (GRCm39) P534S probably damaging Het
Lrp6 A G 6: 134,518,886 (GRCm39) F60L probably benign Het
Mamld1 T C X: 70,162,258 (GRCm39) I423T possibly damaging Het
Mrpl22 G A 11: 58,063,888 (GRCm39) S36N possibly damaging Het
Mug2 A G 6: 122,049,712 (GRCm39) E915G probably damaging Het
Oosp2 T C 19: 11,628,847 (GRCm39) T85A probably benign Het
Or5b94 T C 19: 12,652,223 (GRCm39) F218S possibly damaging Het
Or5p68 C T 7: 107,945,813 (GRCm39) R125Q probably damaging Het
Pde4c T A 8: 71,200,701 (GRCm39) probably benign Het
Pdxdc1 T C 16: 13,693,945 (GRCm39) E159G possibly damaging Het
Poln T C 5: 34,286,721 (GRCm39) E149G probably damaging Het
Pou5f2 T G 13: 78,174,024 (GRCm39) L322R probably damaging Het
Ppm1k A T 6: 57,501,997 (GRCm39) S55R possibly damaging Het
Ptges2 T A 2: 32,287,719 (GRCm39) I149N probably damaging Het
Pus7l A G 15: 94,427,369 (GRCm39) V471A possibly damaging Het
Raet1e A T 10: 22,056,666 (GRCm39) M81L probably benign Het
Skint5 T A 4: 113,799,750 (GRCm39) K126* probably null Het
Stfa2 T C 16: 36,225,569 (GRCm39) T37A probably damaging Het
Ttll12 A G 15: 83,465,897 (GRCm39) I433T possibly damaging Het
Vmn2r32 C T 7: 7,467,116 (GRCm39) G804D probably damaging Het
Zc3h14 A G 12: 98,740,560 (GRCm39) T84A probably benign 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
IGL01300:Sipa1l3 APN 7 29,099,253 (GRCm39) nonsense probably null
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
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 2015-04-16