Incidental Mutation 'IGL00327:Sipa1l3'
ID 6294
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 # IGL00327
Quality Score
Status
Chromosome 7
Chromosomal Location 29019797-29218066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 29053558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 140 (H140N)
Ref Sequence ENSEMBL: ENSMUSP00000138714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085809] [ENSMUST00000182484] [ENSMUST00000183096]
AlphaFold G3X9J0
Predicted Effect possibly damaging
Transcript: ENSMUST00000085809
AA Change: H1189N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082965
Gene: ENSMUSG00000030583
AA Change: H1189N

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 noncoding transcript
Transcript: ENSMUST00000182009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182223
Predicted Effect probably damaging
Transcript: ENSMUST00000182484
AA Change: H140N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138714
Gene: ENSMUSG00000030583
AA Change: H140N

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
low complexity region 141 152 N/A INTRINSIC
low complexity region 211 228 N/A INTRINSIC
low complexity region 234 245 N/A INTRINSIC
Pfam:DUF3401 422 671 2.7e-94 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183096
AA Change: H1189N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138171
Gene: ENSMUSG00000030583
AA Change: H1189N

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
Predicted Effect unknown
Transcript: ENSMUST00000183330
AA Change: H229N
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 A G 7: 100,949,367 (GRCm39) L60S probably damaging Het
Aup1 A G 6: 83,033,390 (GRCm39) E267G probably damaging Het
Bpi T C 2: 158,116,764 (GRCm39) probably benign Het
Brinp2 A G 1: 158,074,670 (GRCm39) Y484H probably benign Het
Colq C T 14: 31,257,545 (GRCm39) probably null Het
Cubn T C 2: 13,431,867 (GRCm39) D1242G possibly damaging Het
Dclre1c T A 2: 3,434,821 (GRCm39) L95* probably null Het
Fry C T 5: 150,263,869 (GRCm39) R171* probably null Het
Krt23 T C 11: 99,383,610 (GRCm39) E94G probably damaging Het
Krt6b T G 15: 101,588,267 (GRCm39) Q131P probably benign Het
Lonp1 A G 17: 56,926,265 (GRCm39) L414P probably damaging Het
Lrit2 T A 14: 36,793,920 (GRCm39) M328K probably benign Het
Lysmd3 C T 13: 81,813,197 (GRCm39) L22F probably benign Het
Map3k20 A G 2: 72,242,514 (GRCm39) D388G probably damaging Het
Mrpl44 C T 1: 79,758,721 (GRCm39) L290F probably benign Het
Nell1 A G 7: 49,770,421 (GRCm39) H160R probably damaging Het
Nlrc3 T C 16: 3,773,030 (GRCm39) N109S probably damaging Het
Prpf40a T C 2: 53,040,700 (GRCm39) T553A probably benign Het
Ptpn23 G T 9: 110,217,174 (GRCm39) T894K probably benign Het
Scgb2b27 A G 7: 33,712,771 (GRCm39) C24R probably damaging Het
Slc22a23 T G 13: 34,489,228 (GRCm39) D219A probably damaging Het
Slc9a7 T C X: 20,005,158 (GRCm39) Y557C probably damaging Het
Slco1a1 A T 6: 141,854,851 (GRCm39) I600N probably damaging Het
Tmx2 T C 2: 84,503,643 (GRCm39) N190S probably benign Het
Tpr T G 1: 150,299,447 (GRCm39) probably benign Het
Yme1l1 T C 2: 23,082,512 (GRCm39) V501A probably benign Het
Other mutations in Sipa1l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20