Incidental Mutation 'R7829:Sipa1l2'
ID 602332
Institutional Source Beutler Lab
Gene Symbol Sipa1l2
Ensembl Gene ENSMUSG00000001995
Gene Name signal-induced proliferation-associated 1 like 2
Synonyms
MMRRC Submission 045883-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R7829 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 126144802-126296547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126178727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1124 (N1124S)
Ref Sequence ENSEMBL: ENSMUSP00000148536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108775] [ENSMUST00000212168] [ENSMUST00000212987]
AlphaFold Q80TE4
Predicted Effect probably damaging
Transcript: ENSMUST00000108775
AA Change: N1124S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: N1124S

DomainStartEndE-ValueType
low complexity region 53 64 N/A INTRINSIC
low complexity region 163 172 N/A INTRINSIC
low complexity region 261 272 N/A INTRINSIC
low complexity region 427 449 N/A INTRINSIC
Pfam:Rap_GAP 625 807 2.6e-67 PFAM
PDZ 960 1026 6.47e-9 SMART
low complexity region 1091 1103 N/A INTRINSIC
low complexity region 1120 1138 N/A INTRINSIC
low complexity region 1220 1238 N/A INTRINSIC
low complexity region 1299 1312 N/A INTRINSIC
low complexity region 1321 1329 N/A INTRINSIC
low complexity region 1334 1355 N/A INTRINSIC
low complexity region 1404 1418 N/A INTRINSIC
Pfam:SPAR_C 1421 1666 2.5e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212168
AA Change: N1124S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000212987
AA Change: N1124S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (61/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C G 11: 58,770,823 (GRCm39) L102V not run Het
Abca12 A T 1: 71,331,580 (GRCm39) S1323R probably benign Het
Abcb1a T A 5: 8,748,623 (GRCm39) I318N probably benign Het
Adam10 A T 9: 70,674,209 (GRCm39) K524* probably null Het
Adamts3 C T 5: 90,009,349 (GRCm39) G105R probably damaging Het
Adcy7 T C 8: 89,042,387 (GRCm39) I418T probably damaging Het
Alg9 T A 9: 50,699,471 (GRCm39) F165L probably damaging Het
Anapc2 G T 2: 25,167,753 (GRCm39) R440L probably damaging Het
Arhgef17 A T 7: 100,526,052 (GRCm39) H1876Q probably benign Het
Armc2 G A 10: 41,802,856 (GRCm39) R606C probably benign Het
Cd163 T C 6: 124,281,738 (GRCm39) S14P probably benign Het
Cfap74 T C 4: 155,513,694 (GRCm39) V502A Het
Copb2 T C 9: 98,470,147 (GRCm39) I891T probably damaging Het
Creb3 T C 4: 43,566,322 (GRCm39) L276P probably damaging Het
Crnkl1 T A 2: 145,773,269 (GRCm39) M126L probably benign Het
Csrp2 C T 10: 110,771,045 (GRCm39) A50V probably damaging Het
Ctsd A G 7: 141,930,879 (GRCm39) C284R probably damaging Het
Dll3 G A 7: 27,994,075 (GRCm39) A454V probably damaging Het
Dmbx1 C T 4: 115,781,104 (GRCm39) probably benign Het
Dnah6 C A 6: 73,104,902 (GRCm39) E1896* probably null Het
Dtwd1 A G 2: 126,006,679 (GRCm39) T234A probably damaging Het
Fhod3 G A 18: 25,248,947 (GRCm39) probably null Het
Gm10549 C A 18: 33,597,463 (GRCm39) probably benign Het
Gm7298 T C 6: 121,742,297 (GRCm39) I495T probably damaging Het
Grhl3 T C 4: 135,288,532 (GRCm39) N51S probably damaging Het
Gtpbp4 A T 13: 9,035,366 (GRCm39) probably null Het
Hsd17b14 A C 7: 45,216,209 (GRCm39) S260R probably benign Het
Insig2 A T 1: 121,235,058 (GRCm39) probably null Het
Itgae T A 11: 73,029,618 (GRCm39) V1046D probably benign Het
Kif1b A T 4: 149,305,447 (GRCm39) probably null Het
Kmo A G 1: 175,478,225 (GRCm39) probably null Het
Loxhd1 A G 18: 77,496,483 (GRCm39) N29S probably damaging Het
Lrp1b A T 2: 40,793,460 (GRCm39) C2484* probably null Het
Lrrc23 T A 6: 124,747,711 (GRCm39) M293L probably benign Het
Mphosph6 T C 8: 118,525,807 (GRCm39) D47G probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naglu G A 11: 100,967,436 (GRCm39) R462H probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrc5 T C 8: 95,248,397 (GRCm39) S1711P probably damaging Het
Or10al7 T C 17: 38,366,220 (GRCm39) Y79C possibly damaging Het
Or1o2 T C 17: 37,543,201 (GRCm39) E20G probably benign Het
Or6k2 A T 1: 173,986,425 (GRCm39) I29F probably benign Het
Osbpl6 G A 2: 76,423,731 (GRCm39) A857T probably damaging Het
Oscp1 C A 4: 125,982,201 (GRCm39) D380E probably benign Het
Pdzd7 C A 19: 45,027,678 (GRCm39) R265S probably benign Het
Piezo2 A T 18: 63,246,947 (GRCm39) probably null Het
Pigc G A 1: 161,798,033 (GRCm39) R5H probably benign Het
Pla2g5 C A 4: 138,531,845 (GRCm39) R53L probably benign Het
Rbm6 T C 9: 107,729,905 (GRCm39) R248G probably damaging Het
Rev1 A T 1: 38,095,526 (GRCm39) L877Q probably damaging Het
Rpap3 A T 15: 97,579,589 (GRCm39) N474K probably benign Het
Ryr2 T A 13: 11,842,493 (GRCm39) E468V possibly damaging Het
Samd9l A C 6: 3,374,749 (GRCm39) D837E probably benign Het
Slc11a2 G A 15: 100,307,142 (GRCm39) A83V possibly damaging Het
Slfn14 A G 11: 83,172,643 (GRCm39) probably null Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Suclg1 A G 6: 73,252,226 (GRCm39) probably null Het
Syne1 A C 10: 5,292,293 (GRCm39) V1325G probably damaging Het
Tmprss15 T C 16: 78,784,538 (GRCm39) S706G probably benign Het
Tox2 T C 2: 163,162,296 (GRCm39) Y389H probably damaging Het
Trappc10 T C 10: 78,034,909 (GRCm39) T946A probably benign Het
Ubqln1 C T 13: 58,325,719 (GRCm39) E546K probably damaging Het
Zfp106 A G 2: 120,354,538 (GRCm39) V1411A possibly damaging Het
Zkscan5 A T 5: 145,155,513 (GRCm39) K395* probably null Het
Other mutations in Sipa1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Sipa1l2 APN 8 126,218,545 (GRCm39) missense probably damaging 1.00
IGL00939:Sipa1l2 APN 8 126,191,174 (GRCm39) splice site probably benign
IGL00965:Sipa1l2 APN 8 126,174,613 (GRCm39) missense probably benign 0.02
IGL01321:Sipa1l2 APN 8 126,218,257 (GRCm39) missense probably damaging 1.00
IGL01450:Sipa1l2 APN 8 126,149,316 (GRCm39) critical splice donor site probably null
IGL01753:Sipa1l2 APN 8 126,180,031 (GRCm39) splice site probably benign
IGL01930:Sipa1l2 APN 8 126,145,978 (GRCm39) missense probably damaging 0.99
IGL02041:Sipa1l2 APN 8 126,218,558 (GRCm39) missense probably benign 0.03
IGL02215:Sipa1l2 APN 8 126,174,576 (GRCm39) missense possibly damaging 0.67
IGL02272:Sipa1l2 APN 8 126,218,750 (GRCm39) missense probably damaging 1.00
IGL02370:Sipa1l2 APN 8 126,207,008 (GRCm39) missense probably damaging 1.00
IGL02538:Sipa1l2 APN 8 126,178,716 (GRCm39) missense probably damaging 1.00
IGL02633:Sipa1l2 APN 8 126,174,507 (GRCm39) missense probably damaging 1.00
IGL03394:Sipa1l2 APN 8 126,218,398 (GRCm39) missense possibly damaging 0.67
Rebellious UTSW 8 126,195,078 (GRCm39) missense probably benign 0.01
R0144:Sipa1l2 UTSW 8 126,176,615 (GRCm39) splice site probably null
R0153:Sipa1l2 UTSW 8 126,148,637 (GRCm39) missense probably damaging 0.99
R0276:Sipa1l2 UTSW 8 126,148,679 (GRCm39) missense probably damaging 1.00
R0318:Sipa1l2 UTSW 8 126,174,436 (GRCm39) missense possibly damaging 0.73
R0373:Sipa1l2 UTSW 8 126,191,149 (GRCm39) missense probably damaging 0.99
R0427:Sipa1l2 UTSW 8 126,207,071 (GRCm39) missense probably damaging 1.00
R0634:Sipa1l2 UTSW 8 126,149,363 (GRCm39) nonsense probably null
R1377:Sipa1l2 UTSW 8 126,218,716 (GRCm39) missense probably damaging 1.00
R1404:Sipa1l2 UTSW 8 126,176,712 (GRCm39) missense probably damaging 1.00
R1404:Sipa1l2 UTSW 8 126,176,712 (GRCm39) missense probably damaging 1.00
R1435:Sipa1l2 UTSW 8 126,195,464 (GRCm39) missense probably damaging 1.00
R1523:Sipa1l2 UTSW 8 126,174,352 (GRCm39) missense possibly damaging 0.75
R1577:Sipa1l2 UTSW 8 126,219,001 (GRCm39) missense probably benign 0.00
R1581:Sipa1l2 UTSW 8 126,218,356 (GRCm39) missense probably damaging 0.96
R1583:Sipa1l2 UTSW 8 126,148,634 (GRCm39) missense probably damaging 0.97
R1719:Sipa1l2 UTSW 8 126,171,274 (GRCm39) missense probably damaging 0.99
R1730:Sipa1l2 UTSW 8 126,206,880 (GRCm39) splice site probably null
R1940:Sipa1l2 UTSW 8 126,206,887 (GRCm39) splice site probably benign
R2007:Sipa1l2 UTSW 8 126,166,176 (GRCm39) missense probably damaging 1.00
R2141:Sipa1l2 UTSW 8 126,218,230 (GRCm39) missense probably benign 0.07
R2203:Sipa1l2 UTSW 8 126,218,366 (GRCm39) missense probably damaging 0.99
R2764:Sipa1l2 UTSW 8 126,219,113 (GRCm39) missense probably damaging 0.99
R3722:Sipa1l2 UTSW 8 126,200,323 (GRCm39) missense probably damaging 1.00
R3787:Sipa1l2 UTSW 8 126,177,122 (GRCm39) missense possibly damaging 0.52
R3787:Sipa1l2 UTSW 8 126,149,944 (GRCm39) missense probably benign
R4106:Sipa1l2 UTSW 8 126,219,047 (GRCm39) missense probably damaging 1.00
R4117:Sipa1l2 UTSW 8 126,195,249 (GRCm39) missense probably damaging 1.00
R4194:Sipa1l2 UTSW 8 126,218,411 (GRCm39) missense probably benign 0.00
R4237:Sipa1l2 UTSW 8 126,218,395 (GRCm39) missense probably benign 0.44
R4240:Sipa1l2 UTSW 8 126,218,395 (GRCm39) missense probably benign 0.44
R4448:Sipa1l2 UTSW 8 126,219,094 (GRCm39) missense probably damaging 1.00
R4515:Sipa1l2 UTSW 8 126,218,965 (GRCm39) missense probably benign 0.00
R4519:Sipa1l2 UTSW 8 126,218,965 (GRCm39) missense probably benign 0.00
R4523:Sipa1l2 UTSW 8 126,219,163 (GRCm39) missense probably damaging 1.00
R4557:Sipa1l2 UTSW 8 126,191,154 (GRCm39) missense probably damaging 0.98
R4667:Sipa1l2 UTSW 8 126,180,209 (GRCm39) missense possibly damaging 0.93
R4687:Sipa1l2 UTSW 8 126,217,984 (GRCm39) missense probably damaging 1.00
R4854:Sipa1l2 UTSW 8 126,200,340 (GRCm39) missense probably damaging 1.00
R4890:Sipa1l2 UTSW 8 126,218,606 (GRCm39) missense probably damaging 1.00
R5065:Sipa1l2 UTSW 8 126,218,324 (GRCm39) missense probably benign 0.19
R5194:Sipa1l2 UTSW 8 126,166,012 (GRCm39) missense possibly damaging 0.48
R5266:Sipa1l2 UTSW 8 126,218,865 (GRCm39) missense probably damaging 0.99
R5475:Sipa1l2 UTSW 8 126,218,334 (GRCm39) missense probably damaging 1.00
R5718:Sipa1l2 UTSW 8 126,217,987 (GRCm39) missense probably damaging 1.00
R5910:Sipa1l2 UTSW 8 126,218,423 (GRCm39) missense probably benign 0.42
R5916:Sipa1l2 UTSW 8 126,195,312 (GRCm39) missense probably damaging 1.00
R5941:Sipa1l2 UTSW 8 126,200,275 (GRCm39) missense probably damaging 0.99
R6083:Sipa1l2 UTSW 8 126,195,212 (GRCm39) missense possibly damaging 0.87
R6185:Sipa1l2 UTSW 8 126,194,992 (GRCm39) nonsense probably null
R6235:Sipa1l2 UTSW 8 126,201,610 (GRCm39) missense probably damaging 1.00
R6274:Sipa1l2 UTSW 8 126,196,611 (GRCm39) missense probably damaging 1.00
R6299:Sipa1l2 UTSW 8 126,180,203 (GRCm39) missense possibly damaging 0.75
R6374:Sipa1l2 UTSW 8 126,171,369 (GRCm39) missense probably damaging 1.00
R6459:Sipa1l2 UTSW 8 126,171,223 (GRCm39) critical splice donor site probably null
R6462:Sipa1l2 UTSW 8 126,217,969 (GRCm39) missense probably damaging 1.00
R6496:Sipa1l2 UTSW 8 126,176,633 (GRCm39) missense probably benign 0.00
R6543:Sipa1l2 UTSW 8 126,177,101 (GRCm39) missense possibly damaging 0.50
R7154:Sipa1l2 UTSW 8 126,195,078 (GRCm39) missense probably benign 0.01
R7192:Sipa1l2 UTSW 8 126,149,348 (GRCm39) missense probably benign 0.09
R7240:Sipa1l2 UTSW 8 126,196,599 (GRCm39) missense probably damaging 1.00
R7361:Sipa1l2 UTSW 8 126,180,071 (GRCm39) missense probably damaging 1.00
R7383:Sipa1l2 UTSW 8 126,174,385 (GRCm39) missense probably damaging 1.00
R7417:Sipa1l2 UTSW 8 126,208,845 (GRCm39) missense possibly damaging 0.93
R7604:Sipa1l2 UTSW 8 126,146,011 (GRCm39) missense probably benign 0.45
R7658:Sipa1l2 UTSW 8 126,219,029 (GRCm39) missense probably benign 0.00
R7743:Sipa1l2 UTSW 8 126,190,972 (GRCm39) missense probably damaging 1.00
R7781:Sipa1l2 UTSW 8 126,218,566 (GRCm39) missense possibly damaging 0.46
R7812:Sipa1l2 UTSW 8 126,218,334 (GRCm39) missense probably damaging 1.00
R7880:Sipa1l2 UTSW 8 126,191,132 (GRCm39) missense probably damaging 1.00
R7884:Sipa1l2 UTSW 8 126,174,337 (GRCm39) missense probably benign
R8057:Sipa1l2 UTSW 8 126,195,269 (GRCm39) missense probably damaging 1.00
R8082:Sipa1l2 UTSW 8 126,218,548 (GRCm39) missense possibly damaging 0.82
R8092:Sipa1l2 UTSW 8 126,145,907 (GRCm39) missense probably benign 0.03
R8247:Sipa1l2 UTSW 8 126,149,372 (GRCm39) missense probably benign 0.29
R8252:Sipa1l2 UTSW 8 126,195,410 (GRCm39) missense probably damaging 1.00
R8386:Sipa1l2 UTSW 8 126,218,832 (GRCm39) missense probably damaging 1.00
R8466:Sipa1l2 UTSW 8 126,218,985 (GRCm39) missense probably damaging 1.00
R8697:Sipa1l2 UTSW 8 126,208,855 (GRCm39) missense probably damaging 1.00
R8725:Sipa1l2 UTSW 8 126,177,125 (GRCm39) missense probably benign 0.28
R8727:Sipa1l2 UTSW 8 126,177,125 (GRCm39) missense probably benign 0.28
R9048:Sipa1l2 UTSW 8 126,174,465 (GRCm39) missense possibly damaging 0.59
R9224:Sipa1l2 UTSW 8 126,218,716 (GRCm39) missense probably damaging 1.00
R9279:Sipa1l2 UTSW 8 126,208,896 (GRCm39) missense probably damaging 1.00
R9392:Sipa1l2 UTSW 8 126,194,960 (GRCm39) missense probably benign
R9574:Sipa1l2 UTSW 8 126,169,453 (GRCm39) missense probably benign
R9591:Sipa1l2 UTSW 8 126,219,112 (GRCm39) missense probably damaging 0.99
R9614:Sipa1l2 UTSW 8 126,196,565 (GRCm39) missense probably null 0.01
R9690:Sipa1l2 UTSW 8 126,218,996 (GRCm39) missense probably benign
X0027:Sipa1l2 UTSW 8 126,218,875 (GRCm39) missense probably damaging 1.00
Z1177:Sipa1l2 UTSW 8 126,174,295 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- AAAAGTGCTTGTTACAGGTGGC -3'
(R):5'- ACACTCCTTCCTGTGATGGG -3'

Sequencing Primer
(F):5'- TACAGGTGGCCTTCTATGCAGC -3'
(R):5'- CCTGTGATGGGTTTCTGTCATAAAAC -3'
Posted On 2019-12-03