Incidental Mutation 'R4854:Sipa1l2'
ID 430258
Institutional Source Beutler Lab
Gene Symbol Sipa1l2
Ensembl Gene ENSMUSG00000001995
Gene Name signal-induced proliferation-associated 1 like 2
Synonyms
MMRRC Submission 042465-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R4854 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 126144802-126296547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126200340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 662 (T662K)
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: T662K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: T662K

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: T662K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212987
AA Change: T662K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (103/105)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik T A 9: 22,119,333 (GRCm39) noncoding transcript Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abl1 T C 2: 31,669,022 (GRCm39) Y110H probably damaging Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Agbl3 G A 6: 34,762,219 (GRCm39) R73Q probably damaging Het
Agl C T 3: 116,572,267 (GRCm39) probably null Het
Amotl1 G A 9: 14,504,747 (GRCm39) Q191* probably null Het
Apbb1ip A G 2: 22,743,214 (GRCm39) K349E possibly damaging Het
Arhgap10 G A 8: 78,146,718 (GRCm39) Q229* probably null Het
Aspm C T 1: 139,405,810 (GRCm39) Q1566* probably null Het
B3gnt3 G A 8: 72,145,517 (GRCm39) R284C probably damaging Het
Bltp3b T G 10: 89,630,346 (GRCm39) V382G probably damaging Het
Brd4 A G 17: 32,439,211 (GRCm39) V423A probably damaging Het
Btbd9 A T 17: 30,743,839 (GRCm39) I221N probably damaging Het
Camp A G 9: 109,676,519 (GRCm39) V168A probably benign Het
Cd1d2 T A 3: 86,896,556 (GRCm39) probably null Het
Cdkn2d A T 9: 21,202,223 (GRCm39) V8D probably benign Het
Cimap1a A G 7: 140,429,375 (GRCm39) Y168C probably damaging Het
Clec4g T C 8: 3,766,534 (GRCm39) N256D probably damaging Het
Clspn A G 4: 126,469,743 (GRCm39) I771V probably benign Het
Cntn6 A G 6: 104,836,436 (GRCm39) E862G possibly damaging Het
Col6a5 T C 9: 105,775,950 (GRCm39) T1702A probably benign Het
Dnah7a T C 1: 53,745,888 (GRCm39) probably benign Het
Dubr T C 16: 50,552,886 (GRCm39) noncoding transcript Het
Dusp26 G A 8: 31,584,165 (GRCm39) V91M probably damaging Het
Edc4 A T 8: 106,614,557 (GRCm39) probably benign Het
F5 C T 1: 164,019,715 (GRCm39) A730V probably damaging Het
Foxf1 A G 8: 121,813,553 (GRCm39) T358A probably benign Het
Frem1 A T 4: 82,834,995 (GRCm39) N1810K possibly damaging Het
Galc A T 12: 98,223,136 (GRCm39) F87I probably damaging Het
Gars1 A G 6: 55,023,403 (GRCm39) D66G probably damaging Het
Gbp11 G A 5: 105,473,374 (GRCm39) L460F probably damaging Het
Gdf7 T C 12: 8,348,014 (GRCm39) I436V probably damaging Het
Gigyf2 C T 1: 87,282,135 (GRCm39) probably benign Het
Gm12239 T C 11: 55,906,779 (GRCm39) noncoding transcript Het
Gm5592 A C 7: 40,866,895 (GRCm39) probably benign Het
Gp2 A T 7: 119,051,422 (GRCm39) D264E possibly damaging Het
Gphn G A 12: 78,673,984 (GRCm39) V526M probably damaging Het
Grid1 A G 14: 35,043,598 (GRCm39) I318V probably benign Het
Grm2 C A 9: 106,531,331 (GRCm39) V53F possibly damaging Het
Gtpbp1 T C 15: 79,603,406 (GRCm39) S632P probably benign Het
H2-M1 A G 17: 36,980,950 (GRCm39) F329L probably benign Het
Hecw1 T A 13: 14,491,477 (GRCm39) D92V probably benign Het
Hgh1 T C 15: 76,253,382 (GRCm39) L76P probably damaging Het
Idi2 C A 13: 9,007,879 (GRCm39) N63K probably benign Het
Ift122 A G 6: 115,839,707 (GRCm39) T25A possibly damaging Het
Itgb2l A T 16: 96,227,317 (GRCm39) C575* probably null Het
Jup A G 11: 100,273,867 (GRCm39) S225P possibly damaging Het
Kcng3 A T 17: 83,895,735 (GRCm39) C244S probably damaging Het
Klhl2 T A 8: 65,287,111 (GRCm39) M46L possibly damaging Het
Ksr1 A T 11: 78,918,528 (GRCm39) I460N probably damaging Het
Lama3 T A 18: 12,544,599 (GRCm39) F314Y probably benign Het
Lbp T C 2: 158,169,438 (GRCm39) V421A possibly damaging Het
Lcp1 G A 14: 75,437,929 (GRCm39) G113D probably damaging Het
Lrp1b A T 2: 41,001,089 (GRCm39) L2045H probably damaging Het
Mbd2 G T 18: 70,701,806 (GRCm39) D107Y unknown Het
Ms4a14 C T 19: 11,287,733 (GRCm39) V96I possibly damaging Het
N4bp2l2 C T 5: 150,585,516 (GRCm39) E155K probably benign Het
Nbeal2 T G 9: 110,460,464 (GRCm39) H1790P probably damaging Het
Nsg2 G A 11: 31,981,806 (GRCm39) G84R probably benign Het
Or10ad1b A C 15: 98,125,425 (GRCm39) F34V possibly damaging Het
Or12e10 A G 2: 87,640,934 (GRCm39) T257A probably damaging Het
P2rx2 T C 5: 110,488,793 (GRCm39) N224D probably damaging Het
P2rx5 A T 11: 73,062,605 (GRCm39) E438V probably benign Het
Paip1 C A 13: 119,586,425 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,714,505 (GRCm39) V219E probably damaging Het
Ppp1r12b T C 1: 134,801,689 (GRCm39) E509G probably damaging Het
Ppp1r15a T C 7: 45,174,797 (GRCm39) S4G probably benign Het
Ppp5c T C 7: 16,742,947 (GRCm39) S224G probably benign Het
Prr30 T G 14: 101,435,879 (GRCm39) I228L probably benign Het
Purg A G 8: 33,877,342 (GRCm39) I327V possibly damaging Het
Ralb T C 1: 119,403,645 (GRCm39) T161A probably benign Het
Ripor3 T C 2: 167,834,733 (GRCm39) R253G probably benign Het
Scgb2b6 T C 7: 31,317,257 (GRCm39) noncoding transcript Het
Setd5 G T 6: 113,128,360 (GRCm39) G1438W probably damaging Het
Sh3rf3 T A 10: 58,649,545 (GRCm39) L50Q possibly damaging Het
Skint5 A G 4: 113,437,725 (GRCm39) L1021S unknown Het
Slc22a23 T C 13: 34,387,924 (GRCm39) S391G probably benign Het
Slc4a5 G A 6: 83,247,999 (GRCm39) V402I probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Spink5 A T 18: 44,153,908 (GRCm39) *1018C probably null Het
Stag3 T A 5: 138,294,956 (GRCm39) probably null Het
Tmem117 T C 15: 94,992,569 (GRCm39) F410L probably damaging Het
Tmod1 A G 4: 46,090,920 (GRCm39) K158E possibly damaging Het
Tpsb2 GGCTGCTGCTGCTGCTG GGCTGCTGCTGCTG 17: 25,585,536 (GRCm39) probably benign Het
Traf4 G A 11: 78,052,346 (GRCm39) Q100* probably null Het
Trpc4 A G 3: 54,209,639 (GRCm39) Y668C probably damaging Het
Ttn T A 2: 76,597,927 (GRCm39) N11335I possibly damaging Het
Usp39 A T 6: 72,302,665 (GRCm39) V463E probably benign Het
Vmn1r6 A C 6: 56,979,683 (GRCm39) Y115S probably benign Het
Vmn2r44 A G 7: 8,383,300 (GRCm39) I98T possibly damaging Het
Zfp462 A G 4: 55,010,668 (GRCm39) Y878C probably damaging Het
Zfp474 T C 18: 52,771,503 (GRCm39) I52T possibly damaging 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
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
R7829:Sipa1l2 UTSW 8 126,178,727 (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'- ATCGAGTCTCACTCTCACCCAG -3'
(R):5'- CCCAAGTCTGTTAGAGCATGC -3'

Sequencing Primer
(F):5'- TCTCACCCAGGGCCACC -3'
(R):5'- CAAGTCTGTTAGAGCATGCTCAGTAG -3'
Posted On 2016-10-03