Incidental Mutation 'R6083:Sipa1l2'
ID 482311
Institutional Source Beutler Lab
Gene Symbol Sipa1l2
Ensembl Gene ENSMUSG00000001995
Gene Name signal-induced proliferation-associated 1 like 2
Synonyms
MMRRC Submission 044242-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R6083 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 125418063-125569808 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125468473 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 842 (V842E)
Ref Sequence ENSEMBL: ENSMUSP00000148557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108775] [ENSMUST00000212168] [ENSMUST00000212987]
AlphaFold Q80TE4
Predicted Effect possibly damaging
Transcript: ENSMUST00000108775
AA Change: V842E

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: V842E

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 possibly damaging
Transcript: ENSMUST00000212168
AA Change: V842E

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212987
AA Change: V842E

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.1777 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 96% (76/79)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C A 11: 58,878,851 (GRCm38) P73Q possibly damaging Het
Aak1 A T 6: 86,963,996 (GRCm38) I591F unknown Het
Ace C A 11: 105,985,267 (GRCm38) Y816* probably null Het
Ahnak2 A G 12: 112,782,612 (GRCm38) V1205A probably benign Het
Ahnak2 T G 12: 112,782,999 (GRCm38) Q1076P probably benign Het
Ap2a1 G A 7: 44,907,751 (GRCm38) R263W probably damaging Het
Arhgap29 A G 3: 121,992,748 (GRCm38) T257A probably benign Het
Bora A T 14: 99,062,294 (GRCm38) Q234L possibly damaging Het
Ccdc17 A T 4: 116,596,926 (GRCm38) Q47L possibly damaging Het
Cep170 C T 1: 176,774,625 (GRCm38) R305H probably damaging Het
Cyb5r4 C T 9: 87,057,168 (GRCm38) P335S probably damaging Het
Cyp2c54 A G 19: 40,073,762 (GRCm38) L17P probably benign Het
Cyp2c69 A T 19: 39,849,456 (GRCm38) V394E probably damaging Het
Dedd2 G A 7: 25,211,290 (GRCm38) P154S probably benign Het
Defb36 A T 2: 152,604,488 (GRCm38) M1L unknown Het
Dnaja1 A G 4: 40,731,713 (GRCm38) D263G probably benign Het
Dock10 T C 1: 80,532,431 (GRCm38) N1560S probably damaging Het
Efnb2 T C 8: 8,622,328 (GRCm38) probably null Het
Eif3e A G 15: 43,266,144 (GRCm38) I196T probably damaging Het
Ercc4 T A 16: 13,110,039 (GRCm38) C24* probably null Het
Fmn1 A G 2: 113,364,303 (GRCm38) E116G unknown Het
Gnas A G 2: 174,297,862 (GRCm38) M1V probably null Het
Grin2a C A 16: 9,579,540 (GRCm38) M894I probably benign Het
Herc2 G T 7: 56,228,505 (GRCm38) S4566I probably benign Het
Hmcn1 G T 1: 150,755,294 (GRCm38) P918T probably damaging Het
Hmcn1 G A 1: 150,755,293 (GRCm38) P918L probably damaging Het
Hsd3b2 T A 3: 98,712,056 (GRCm38) Y191F possibly damaging Het
Ifit1bl2 A C 19: 34,619,817 (GRCm38) F133C possibly damaging Het
Itih2 T C 2: 10,108,894 (GRCm38) probably benign Het
Itsn1 T C 16: 91,853,011 (GRCm38) L191P probably benign Het
Kdr T C 5: 75,944,366 (GRCm38) K1068R probably damaging Het
Lmtk2 T C 5: 144,182,756 (GRCm38) L1345P probably damaging Het
Man2b2 T A 5: 36,809,041 (GRCm38) D936V probably damaging Het
Mapk1ip1 G A 7: 138,836,588 (GRCm38) R38* probably null Het
Med13l T C 5: 118,721,486 (GRCm38) V246A possibly damaging Het
Mlec T A 5: 115,148,049 (GRCm38) T248S probably benign Het
Mslnl T A 17: 25,737,902 (GRCm38) V54D possibly damaging Het
Muc16 G A 9: 18,657,212 (GRCm38) T1337I unknown Het
Nek7 C T 1: 138,515,654 (GRCm38) S187N probably damaging Het
Neto2 A G 8: 85,640,585 (GRCm38) V538A probably benign Het
Nktr T C 9: 121,750,136 (GRCm38) probably benign Het
Npy6r A G 18: 44,276,492 (GRCm38) K327E probably damaging Het
Olfr1230 T A 2: 89,297,024 (GRCm38) D82V probably damaging Het
Olfr1245 T C 2: 89,575,672 (GRCm38) D18G probably benign Het
Olfr1463 A T 19: 13,234,525 (GRCm38) I92F probably benign Het
Olfr402 A G 11: 74,155,570 (GRCm38) M139V possibly damaging Het
Olfr705 A G 7: 106,873,582 (GRCm38) I221T probably damaging Het
Pcdhga4 A T 18: 37,687,425 (GRCm38) N676Y probably damaging Het
Pde2a T C 7: 101,502,879 (GRCm38) I331T possibly damaging Het
Pip5k1b A T 19: 24,304,035 (GRCm38) Y486* probably null Het
Plch2 A G 4: 155,000,818 (GRCm38) M272T probably benign Het
Rbm12 G A 2: 156,097,726 (GRCm38) probably benign Het
Rgs19 T C 2: 181,689,507 (GRCm38) E111G probably damaging Het
Rhbdf1 T C 11: 32,210,066 (GRCm38) N145S probably damaging Het
Rnf4 T A 5: 34,351,221 (GRCm38) probably null Het
Rpa1 T C 11: 75,314,911 (GRCm38) T207A probably damaging Het
Rufy4 A C 1: 74,129,397 (GRCm38) Q113P probably damaging Het
Sh3pxd2b T G 11: 32,422,985 (GRCm38) S717R probably benign Het
Sin3a A T 9: 57,107,540 (GRCm38) I682F probably damaging Het
Slc5a4a A G 10: 76,147,597 (GRCm38) I23V unknown Het
Slitrk5 A G 14: 111,681,725 (GRCm38) N927S probably benign Het
Smc6 A G 12: 11,276,353 (GRCm38) K117R possibly damaging Het
Sod2 G A 17: 13,008,031 (GRCm38) probably benign Het
Stxbp1 A G 2: 32,796,018 (GRCm38) I567T possibly damaging Het
Tbkbp1 C A 11: 97,147,380 (GRCm38) L209F probably damaging Het
Tll1 G T 8: 64,038,586 (GRCm38) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm38) L60S probably damaging Het
Trib1 G A 15: 59,654,475 (GRCm38) R298H probably damaging Het
Trim30b A G 7: 104,366,142 (GRCm38) V13A probably damaging Het
Trip11 G A 12: 101,889,742 (GRCm38) T425I probably benign Het
Ttn C A 2: 76,889,973 (GRCm38) probably benign Het
Tymp GC GCC 15: 89,374,364 (GRCm38) probably null Het
Ush2a T A 1: 188,267,023 (GRCm38) S177T probably damaging Het
Usp40 A T 1: 87,978,559 (GRCm38) S651R probably benign Het
Vmn1r125 T C 7: 21,272,719 (GRCm38) S181P probably damaging Het
Vmn1r198 T A 13: 22,354,758 (GRCm38) V138D possibly damaging Het
Vmn1r56 A G 7: 5,196,318 (GRCm38) L100P probably damaging Het
Vmn2r32 T A 7: 7,464,210 (GRCm38) D773V probably benign Het
Vmn2r53 A C 7: 12,581,881 (GRCm38) H670Q probably benign Het
Vmn2r69 A T 7: 85,406,503 (GRCm38) I809N probably damaging Het
Wdr7 G A 18: 63,728,469 (GRCm38) G184D probably damaging Het
Wnk1 C T 6: 120,037,601 (GRCm38) G11D probably damaging Het
Zfp110 A C 7: 12,844,675 (GRCm38) E171A possibly damaging Het
Zkscan6 T C 11: 65,815,931 (GRCm38) V134A probably damaging Het
Other mutations in Sipa1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Sipa1l2 APN 8 125,491,806 (GRCm38) missense probably damaging 1.00
IGL00939:Sipa1l2 APN 8 125,464,435 (GRCm38) splice site probably benign
IGL00965:Sipa1l2 APN 8 125,447,874 (GRCm38) missense probably benign 0.02
IGL01321:Sipa1l2 APN 8 125,491,518 (GRCm38) missense probably damaging 1.00
IGL01450:Sipa1l2 APN 8 125,422,577 (GRCm38) critical splice donor site probably null
IGL01753:Sipa1l2 APN 8 125,453,292 (GRCm38) splice site probably benign
IGL01930:Sipa1l2 APN 8 125,419,239 (GRCm38) missense probably damaging 0.99
IGL02041:Sipa1l2 APN 8 125,491,819 (GRCm38) missense probably benign 0.03
IGL02215:Sipa1l2 APN 8 125,447,837 (GRCm38) missense possibly damaging 0.67
IGL02272:Sipa1l2 APN 8 125,492,011 (GRCm38) missense probably damaging 1.00
IGL02370:Sipa1l2 APN 8 125,480,269 (GRCm38) missense probably damaging 1.00
IGL02538:Sipa1l2 APN 8 125,451,977 (GRCm38) missense probably damaging 1.00
IGL02633:Sipa1l2 APN 8 125,447,768 (GRCm38) missense probably damaging 1.00
IGL03394:Sipa1l2 APN 8 125,491,659 (GRCm38) missense possibly damaging 0.67
Rebellious UTSW 8 125,468,339 (GRCm38) missense probably benign 0.01
R0144:Sipa1l2 UTSW 8 125,449,876 (GRCm38) splice site probably null
R0153:Sipa1l2 UTSW 8 125,421,898 (GRCm38) missense probably damaging 0.99
R0276:Sipa1l2 UTSW 8 125,421,940 (GRCm38) missense probably damaging 1.00
R0318:Sipa1l2 UTSW 8 125,447,697 (GRCm38) missense possibly damaging 0.73
R0373:Sipa1l2 UTSW 8 125,464,410 (GRCm38) missense probably damaging 0.99
R0427:Sipa1l2 UTSW 8 125,480,332 (GRCm38) missense probably damaging 1.00
R0634:Sipa1l2 UTSW 8 125,422,624 (GRCm38) nonsense probably null
R1377:Sipa1l2 UTSW 8 125,491,977 (GRCm38) missense probably damaging 1.00
R1404:Sipa1l2 UTSW 8 125,449,973 (GRCm38) missense probably damaging 1.00
R1404:Sipa1l2 UTSW 8 125,449,973 (GRCm38) missense probably damaging 1.00
R1435:Sipa1l2 UTSW 8 125,468,725 (GRCm38) missense probably damaging 1.00
R1523:Sipa1l2 UTSW 8 125,447,613 (GRCm38) missense possibly damaging 0.75
R1577:Sipa1l2 UTSW 8 125,492,262 (GRCm38) missense probably benign 0.00
R1581:Sipa1l2 UTSW 8 125,491,617 (GRCm38) missense probably damaging 0.96
R1583:Sipa1l2 UTSW 8 125,421,895 (GRCm38) missense probably damaging 0.97
R1719:Sipa1l2 UTSW 8 125,444,535 (GRCm38) missense probably damaging 0.99
R1730:Sipa1l2 UTSW 8 125,480,141 (GRCm38) splice site probably null
R1940:Sipa1l2 UTSW 8 125,480,148 (GRCm38) splice site probably benign
R2007:Sipa1l2 UTSW 8 125,439,437 (GRCm38) missense probably damaging 1.00
R2141:Sipa1l2 UTSW 8 125,491,491 (GRCm38) missense probably benign 0.07
R2203:Sipa1l2 UTSW 8 125,491,627 (GRCm38) missense probably damaging 0.99
R2764:Sipa1l2 UTSW 8 125,492,374 (GRCm38) missense probably damaging 0.99
R3722:Sipa1l2 UTSW 8 125,473,584 (GRCm38) missense probably damaging 1.00
R3787:Sipa1l2 UTSW 8 125,450,383 (GRCm38) missense possibly damaging 0.52
R3787:Sipa1l2 UTSW 8 125,423,205 (GRCm38) missense probably benign
R4106:Sipa1l2 UTSW 8 125,492,308 (GRCm38) missense probably damaging 1.00
R4117:Sipa1l2 UTSW 8 125,468,510 (GRCm38) missense probably damaging 1.00
R4194:Sipa1l2 UTSW 8 125,491,672 (GRCm38) missense probably benign 0.00
R4237:Sipa1l2 UTSW 8 125,491,656 (GRCm38) missense probably benign 0.44
R4240:Sipa1l2 UTSW 8 125,491,656 (GRCm38) missense probably benign 0.44
R4448:Sipa1l2 UTSW 8 125,492,355 (GRCm38) missense probably damaging 1.00
R4515:Sipa1l2 UTSW 8 125,492,226 (GRCm38) missense probably benign 0.00
R4519:Sipa1l2 UTSW 8 125,492,226 (GRCm38) missense probably benign 0.00
R4523:Sipa1l2 UTSW 8 125,492,424 (GRCm38) missense probably damaging 1.00
R4557:Sipa1l2 UTSW 8 125,464,415 (GRCm38) missense probably damaging 0.98
R4667:Sipa1l2 UTSW 8 125,453,470 (GRCm38) missense possibly damaging 0.93
R4687:Sipa1l2 UTSW 8 125,491,245 (GRCm38) missense probably damaging 1.00
R4854:Sipa1l2 UTSW 8 125,473,601 (GRCm38) missense probably damaging 1.00
R4890:Sipa1l2 UTSW 8 125,491,867 (GRCm38) missense probably damaging 1.00
R5065:Sipa1l2 UTSW 8 125,491,585 (GRCm38) missense probably benign 0.19
R5194:Sipa1l2 UTSW 8 125,439,273 (GRCm38) missense possibly damaging 0.48
R5266:Sipa1l2 UTSW 8 125,492,126 (GRCm38) missense probably damaging 0.99
R5475:Sipa1l2 UTSW 8 125,491,595 (GRCm38) missense probably damaging 1.00
R5718:Sipa1l2 UTSW 8 125,491,248 (GRCm38) missense probably damaging 1.00
R5910:Sipa1l2 UTSW 8 125,491,684 (GRCm38) missense probably benign 0.42
R5916:Sipa1l2 UTSW 8 125,468,573 (GRCm38) missense probably damaging 1.00
R5941:Sipa1l2 UTSW 8 125,473,536 (GRCm38) missense probably damaging 0.99
R6185:Sipa1l2 UTSW 8 125,468,253 (GRCm38) nonsense probably null
R6235:Sipa1l2 UTSW 8 125,474,871 (GRCm38) missense probably damaging 1.00
R6274:Sipa1l2 UTSW 8 125,469,872 (GRCm38) missense probably damaging 1.00
R6299:Sipa1l2 UTSW 8 125,453,464 (GRCm38) missense possibly damaging 0.75
R6374:Sipa1l2 UTSW 8 125,444,630 (GRCm38) missense probably damaging 1.00
R6459:Sipa1l2 UTSW 8 125,444,484 (GRCm38) critical splice donor site probably null
R6462:Sipa1l2 UTSW 8 125,491,230 (GRCm38) missense probably damaging 1.00
R6496:Sipa1l2 UTSW 8 125,449,894 (GRCm38) missense probably benign 0.00
R6543:Sipa1l2 UTSW 8 125,450,362 (GRCm38) missense possibly damaging 0.50
R7154:Sipa1l2 UTSW 8 125,468,339 (GRCm38) missense probably benign 0.01
R7192:Sipa1l2 UTSW 8 125,422,609 (GRCm38) missense probably benign 0.09
R7240:Sipa1l2 UTSW 8 125,469,860 (GRCm38) missense probably damaging 1.00
R7361:Sipa1l2 UTSW 8 125,453,332 (GRCm38) missense probably damaging 1.00
R7383:Sipa1l2 UTSW 8 125,447,646 (GRCm38) missense probably damaging 1.00
R7417:Sipa1l2 UTSW 8 125,482,106 (GRCm38) missense possibly damaging 0.93
R7604:Sipa1l2 UTSW 8 125,419,272 (GRCm38) missense probably benign 0.45
R7658:Sipa1l2 UTSW 8 125,492,290 (GRCm38) missense probably benign 0.00
R7743:Sipa1l2 UTSW 8 125,464,233 (GRCm38) missense probably damaging 1.00
R7781:Sipa1l2 UTSW 8 125,491,827 (GRCm38) missense possibly damaging 0.46
R7812:Sipa1l2 UTSW 8 125,491,595 (GRCm38) missense probably damaging 1.00
R7829:Sipa1l2 UTSW 8 125,451,988 (GRCm38) missense probably damaging 1.00
R7880:Sipa1l2 UTSW 8 125,464,393 (GRCm38) missense probably damaging 1.00
R7884:Sipa1l2 UTSW 8 125,447,598 (GRCm38) missense probably benign
R8057:Sipa1l2 UTSW 8 125,468,530 (GRCm38) missense probably damaging 1.00
R8082:Sipa1l2 UTSW 8 125,491,809 (GRCm38) missense possibly damaging 0.82
R8092:Sipa1l2 UTSW 8 125,419,168 (GRCm38) missense probably benign 0.03
R8247:Sipa1l2 UTSW 8 125,422,633 (GRCm38) missense probably benign 0.29
R8252:Sipa1l2 UTSW 8 125,468,671 (GRCm38) missense probably damaging 1.00
R8386:Sipa1l2 UTSW 8 125,492,093 (GRCm38) missense probably damaging 1.00
R8466:Sipa1l2 UTSW 8 125,492,246 (GRCm38) missense probably damaging 1.00
R8697:Sipa1l2 UTSW 8 125,482,116 (GRCm38) missense probably damaging 1.00
R8725:Sipa1l2 UTSW 8 125,450,386 (GRCm38) missense probably benign 0.28
R8727:Sipa1l2 UTSW 8 125,450,386 (GRCm38) missense probably benign 0.28
R9048:Sipa1l2 UTSW 8 125,447,726 (GRCm38) missense possibly damaging 0.59
R9224:Sipa1l2 UTSW 8 125,491,977 (GRCm38) missense probably damaging 1.00
R9279:Sipa1l2 UTSW 8 125,482,157 (GRCm38) missense probably damaging 1.00
R9392:Sipa1l2 UTSW 8 125,468,221 (GRCm38) missense probably benign
R9574:Sipa1l2 UTSW 8 125,442,714 (GRCm38) missense probably benign
R9591:Sipa1l2 UTSW 8 125,492,373 (GRCm38) missense probably damaging 0.99
R9614:Sipa1l2 UTSW 8 125,469,826 (GRCm38) missense probably null 0.01
R9690:Sipa1l2 UTSW 8 125,492,257 (GRCm38) missense probably benign
X0027:Sipa1l2 UTSW 8 125,492,136 (GRCm38) missense probably damaging 1.00
Z1177:Sipa1l2 UTSW 8 125,447,556 (GRCm38) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- GAAGTCCAGCCAATCACGTC -3'
(R):5'- AAAGTCAGCTGTCTTCCGG -3'

Posted On 2017-07-14