Incidental Mutation 'R4569:Sipa1l3'
ID 341999
Institutional Source Beutler Lab
Gene Symbol Sipa1l3
Ensembl Gene ENSMUSG00000030583
Gene Name signal-induced proliferation-associated 1 like 3
Synonyms 2610511M17Rik
MMRRC Submission 041793-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.591) question?
Stock # R4569 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 29019797-29218066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 29025287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 619 (P619Q)
Ref Sequence ENSEMBL: ENSMUSP00000138714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085809] [ENSMUST00000182484] [ENSMUST00000182780] [ENSMUST00000183096]
AlphaFold G3X9J0
Predicted Effect possibly damaging
Transcript: ENSMUST00000085809
AA Change: P1669Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082965
Gene: ENSMUSG00000030583
AA Change: P1669Q

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: P619Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138714
Gene: ENSMUSG00000030583
AA Change: P619Q

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 probably damaging
Transcript: ENSMUST00000182780
AA Change: P14Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138311
Gene: ENSMUSG00000030583
AA Change: P14Q

DomainStartEndE-ValueType
low complexity region 79 94 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182829
Predicted Effect possibly damaging
Transcript: ENSMUST00000183096
AA Change: P1669Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138171
Gene: ENSMUSG00000030583
AA Change: P1669Q

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: P741Q
Meta Mutation Damage Score 0.0986 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 99% (87/88)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,275,262 (GRCm39) T322A probably benign Het
Abhd13 C T 8: 10,038,071 (GRCm39) P223S possibly damaging Het
Adgra3 T A 5: 50,117,905 (GRCm39) L1214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd13a C A 5: 114,927,373 (GRCm39) P120Q probably damaging Het
Apbb1ip A G 2: 22,739,556 (GRCm39) Y277C probably damaging Het
Arfgap1 T C 2: 180,618,166 (GRCm39) probably benign Het
Arid2 T A 15: 96,290,343 (GRCm39) V1746D probably damaging Het
C1qtnf7 T A 5: 43,766,549 (GRCm39) N49K possibly damaging Het
Cacnb2 A T 2: 14,990,811 (GRCm39) D587V possibly damaging Het
Ccar2 A T 14: 70,389,359 (GRCm39) probably null Het
Cdk2ap2 T C 19: 4,147,879 (GRCm39) F49L possibly damaging Het
Cdon A T 9: 35,388,265 (GRCm39) I747F probably damaging Het
Cyp19a1 G A 9: 54,100,607 (GRCm39) P27S probably benign Het
Cyp4v3 T A 8: 45,760,029 (GRCm39) R508W probably damaging Het
Dclk1 T C 3: 55,154,831 (GRCm39) L87P probably damaging Het
Ddx41 G A 13: 55,683,834 (GRCm39) R66C possibly damaging Het
Dmxl1 T C 18: 49,985,427 (GRCm39) Y225H probably damaging Het
Dnah7a G A 1: 53,450,818 (GRCm39) P3871S probably benign Het
Dnhd1 A G 7: 105,306,373 (GRCm39) probably null Het
Dph1 A T 11: 75,069,721 (GRCm39) probably benign Het
Egln2 A G 7: 26,859,008 (GRCm39) I382T probably damaging Het
Enpp3 A G 10: 24,652,780 (GRCm39) Y726H probably damaging Het
Fbxo32 A G 15: 58,044,873 (GRCm39) F353L probably damaging Het
Fchsd2 G A 7: 100,926,809 (GRCm39) G657D possibly damaging Het
Fer1l4 T A 2: 155,878,559 (GRCm39) E44V possibly damaging Het
Gjb2 C T 14: 57,337,762 (GRCm39) V149I probably benign Het
Glipr1l1 A G 10: 111,898,317 (GRCm39) M141V probably benign Het
Gnaq T C 19: 16,312,370 (GRCm39) S211P probably damaging Het
Gnl1 A G 17: 36,299,142 (GRCm39) R527G probably benign Het
Gns A G 10: 121,217,083 (GRCm39) Q286R probably benign Het
Gon4l T C 3: 88,817,397 (GRCm39) probably benign Het
Gpr107 T C 2: 31,097,677 (GRCm39) probably benign Het
Gprasp1 C T X: 134,703,592 (GRCm39) R1262C probably damaging Het
Gtf2ird1 A T 5: 134,439,857 (GRCm39) D124E probably damaging Het
Hbp1 T A 12: 32,000,231 (GRCm39) probably benign Het
Hrnr C T 3: 93,230,875 (GRCm39) T371I unknown Het
Ints2 A G 11: 86,147,024 (GRCm39) C41R probably damaging Het
Jhy A G 9: 40,822,389 (GRCm39) I583T probably benign Het
Jph4 G T 14: 55,352,503 (GRCm39) R77S probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhl12 A T 1: 134,413,507 (GRCm39) I331F probably benign Het
Map4k4 G A 1: 40,039,698 (GRCm39) R30Q probably damaging Het
Mgst1 C A 6: 138,133,213 (GRCm39) T176K probably damaging Het
Negr1 C A 3: 156,914,013 (GRCm39) probably benign Het
Nrg1 C T 8: 32,407,802 (GRCm39) V144I probably benign Het
Ntmt2 T A 1: 163,530,586 (GRCm39) *284C probably null Het
Or1ad8 T C 11: 50,898,381 (GRCm39) I194T possibly damaging Het
Otog A G 7: 45,959,571 (GRCm39) D720G probably damaging Het
Pex11b A T 3: 96,551,330 (GRCm39) probably benign Het
Phtf2 T C 5: 20,994,593 (GRCm39) probably benign Het
Ppip5k1 C T 2: 121,174,044 (GRCm39) R359Q possibly damaging Het
Prickle2 T C 6: 92,399,323 (GRCm39) I185V probably benign Het
Prrc2a G A 17: 35,377,473 (GRCm39) P562S unknown Het
Rdx A G 9: 51,980,141 (GRCm39) I245V probably benign Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rhob T G 12: 8,549,373 (GRCm39) D87A probably damaging Het
Ros1 T A 10: 52,040,090 (GRCm39) E300D probably damaging Het
Sbf2 A G 7: 109,948,060 (GRCm39) probably null Het
Snupn A G 9: 56,885,346 (GRCm39) E217G probably benign Het
Ston2 T A 12: 91,606,496 (GRCm39) *896C probably null Het
Stradb C T 1: 59,019,117 (GRCm39) R13* probably null Het
Tbx21 G A 11: 97,005,581 (GRCm39) A128V probably benign Het
Tep1 A T 14: 51,062,197 (GRCm39) C2552S probably benign Het
Tgif1 A T 17: 71,151,912 (GRCm39) V233E possibly damaging Het
Trim31 A T 17: 37,209,633 (GRCm39) I130L probably benign Het
Trrap C T 5: 144,728,928 (GRCm39) T614I probably benign Het
Ttn C A 2: 76,766,758 (GRCm39) V3107F probably damaging Het
Txnrd2 T G 16: 18,274,956 (GRCm39) D322E probably benign Het
Unc45b T A 11: 82,827,315 (GRCm39) probably null Het
Usp43 C T 11: 67,789,788 (GRCm39) C252Y probably damaging Het
Usp43 A T 11: 67,766,178 (GRCm39) L744* probably null Het
Vmn2r71 A C 7: 85,273,402 (GRCm39) K739Q possibly damaging Het
Vps16 C T 2: 130,284,124 (GRCm39) T653M probably benign Het
Wdr83os T A 8: 85,808,495 (GRCm39) S82R probably damaging Het
Xpo6 T A 7: 125,727,427 (GRCm39) L526F probably damaging Het
Zfhx4 G A 3: 5,466,894 (GRCm39) V2351I probably benign Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S 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
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
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
Predicted Primers PCR Primer
(F):5'- GTTGGAAGTCTGAGACCTGATG -3'
(R):5'- CGAGCCCTGATCAGAGAAGATC -3'

Sequencing Primer
(F):5'- AAGTCTGAGACCTGATGTCCTG -3'
(R):5'- AGATCTGTTGGGAGGGAATGG -3'
Posted On 2015-09-24