Incidental Mutation 'R0373:Sipa1l2'
ID 30620
Institutional Source Beutler Lab
Gene Symbol Sipa1l2
Ensembl Gene ENSMUSG00000001995
Gene Name signal-induced proliferation-associated 1 like 2
Synonyms
MMRRC Submission 038579-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R0373 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 125418063-125569808 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 125464410 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 947 (C947F)
Ref Sequence ENSEMBL: ENSMUSP00000148557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108775] [ENSMUST00000212168] [ENSMUST00000212987]
AlphaFold Q80TE4
Predicted Effect probably damaging
Transcript: ENSMUST00000108775
AA Change: C947F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: C947F

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: C947F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000212987
AA Change: C947F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.5%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A T 3: 138,173,582 (GRCm38) L235Q probably damaging Het
Aadacl4fm4 A T 4: 144,686,220 (GRCm38) M50K possibly damaging Het
Adam6b T A 12: 113,490,655 (GRCm38) V364D probably benign Het
Akap13 T A 7: 75,730,500 (GRCm38) S2193T probably damaging Het
Akap13 T C 7: 75,609,929 (GRCm38) L767P probably benign Het
Anapc11 T C 11: 120,605,377 (GRCm38) V69A probably benign Het
Ankmy1 C T 1: 92,896,190 (GRCm38) R118Q probably damaging Het
Ankrd27 T C 7: 35,638,053 (GRCm38) S931P probably benign Het
Atp6v1c2 G A 12: 17,288,168 (GRCm38) R280C probably damaging Het
Bbs10 T A 10: 111,300,052 (GRCm38) I342N probably damaging Het
Calhm2 T C 19: 47,132,950 (GRCm38) D260G possibly damaging Het
Camk2a A G 18: 60,958,238 (GRCm38) E264G probably damaging Het
Ccdc146 T A 5: 21,319,545 (GRCm38) M270L probably benign Het
Cdc16 A G 8: 13,779,264 (GRCm38) T517A probably benign Het
Ces1g T C 8: 93,331,193 (GRCm38) H160R probably benign Het
Chst4 T C 8: 110,030,394 (GRCm38) N196S probably damaging Het
Ciz1 A T 2: 32,367,467 (GRCm38) N175Y probably damaging Het
Cyb5r4 G A 9: 87,027,040 (GRCm38) V57I probably damaging Het
Cyth3 A G 5: 143,684,426 (GRCm38) probably benign Het
Def6 A G 17: 28,220,180 (GRCm38) E255G probably damaging Het
Dhtkd1 T G 2: 5,911,870 (GRCm38) Q665P probably damaging Het
Dsg3 A C 18: 20,539,747 (GRCm38) D825A probably damaging Het
Eif3m T C 2: 105,005,000 (GRCm38) T242A probably benign Het
Emilin3 A G 2: 160,909,817 (GRCm38) F101L probably benign Het
Epha7 A G 4: 28,935,700 (GRCm38) probably null Het
Fbxo45 A T 16: 32,238,405 (GRCm38) Y224N probably damaging Het
Fhod3 A T 18: 25,090,104 (GRCm38) M836L possibly damaging Het
Fut4 C A 9: 14,751,210 (GRCm38) V263F probably damaging Het
Ggt1 C T 10: 75,579,270 (GRCm38) T206M probably benign Het
Gls T C 1: 52,188,699 (GRCm38) R79G probably damaging Het
Grhl1 T C 12: 24,581,515 (GRCm38) S156P probably benign Het
Ipo8 C T 6: 148,775,042 (GRCm38) S983N probably benign Het
Kcna7 C T 7: 45,409,444 (GRCm38) A385V probably damaging Het
Kpnb1 A T 11: 97,185,090 (GRCm38) L40Q probably damaging Het
Matn1 A T 4: 130,950,106 (GRCm38) S209C probably damaging Het
Mcc A G 18: 44,475,222 (GRCm38) I501T probably benign Het
Mdp1 A T 14: 55,659,375 (GRCm38) F104L probably damaging Het
Mib2 A T 4: 155,656,288 (GRCm38) N626K probably damaging Het
Mrgprh T C 17: 12,876,956 (GRCm38) S28P possibly damaging Het
Mup-ps23 T A 4: 61,856,149 (GRCm38) noncoding transcript Het
Myh15 A G 16: 49,182,959 (GRCm38) T1794A possibly damaging Het
Myo18a C G 11: 77,821,042 (GRCm38) P680A probably benign Het
Myom2 G T 8: 15,098,419 (GRCm38) D532Y possibly damaging Het
Ndufaf5 A G 2: 140,170,881 (GRCm38) N57S probably benign Het
Nectin3 C T 16: 46,458,187 (GRCm38) V282M probably damaging Het
Nup188 G T 2: 30,330,988 (GRCm38) D997Y probably damaging Het
Olfm3 T C 3: 115,122,805 (GRCm38) V462A probably damaging Het
Opcml A G 9: 28,813,398 (GRCm38) H164R possibly damaging Het
Or14a259 A T 7: 86,363,805 (GRCm38) C177* probably null Het
Or4c120 A T 2: 89,170,413 (GRCm38) F266L probably benign Het
Or8u9 A C 2: 86,171,706 (GRCm38) F37C probably damaging Het
Pacrg A G 17: 10,403,418 (GRCm38) I209T probably damaging Het
Pcf11 T C 7: 92,661,215 (GRCm38) M522V probably benign Het
Pck1 T A 2: 173,153,390 (GRCm38) M1K probably null Het
Pcm1 G T 8: 41,276,111 (GRCm38) E707* probably null Het
Pcsk5 G A 19: 17,654,849 (GRCm38) R318W probably damaging Het
Phf11d A T 14: 59,353,344 (GRCm38) M188K possibly damaging Het
Ppip5k2 A T 1: 97,740,537 (GRCm38) C615* probably null Het
Prkdc T A 16: 15,791,927 (GRCm38) S3132T probably damaging Het
Prl2c5 A T 13: 13,183,024 (GRCm38) probably benign Het
Prpsap2 A G 11: 61,741,000 (GRCm38) I177T possibly damaging Het
Rad50 A G 11: 53,650,519 (GRCm38) S1297P probably damaging Het
Rasip1 T A 7: 45,635,244 (GRCm38) N678K possibly damaging Het
Rubcn A G 16: 32,835,980 (GRCm38) S544P probably damaging Het
Rwdd2a A T 9: 86,574,400 (GRCm38) T210S possibly damaging Het
Scd2 A G 19: 44,303,040 (GRCm38) D306G probably damaging Het
Sema3b T C 9: 107,602,918 (GRCm38) N207S probably benign Het
Sf3b2 C T 19: 5,274,824 (GRCm38) D845N probably damaging Het
Slc12a1 A T 2: 125,226,031 (GRCm38) T1013S probably damaging Het
Slc18a2 A T 19: 59,287,367 (GRCm38) I461L probably benign Het
Slc1a6 C A 10: 78,801,922 (GRCm38) Y427* probably null Het
Slc30a4 A T 2: 122,689,399 (GRCm38) I231K probably damaging Het
Sos1 G T 17: 80,453,763 (GRCm38) A168D probably damaging Het
Spata31f1a T C 4: 42,851,161 (GRCm38) I332V probably benign Het
Sptb T C 12: 76,621,371 (GRCm38) S651G probably benign Het
Stk36 T C 1: 74,633,620 (GRCm38) L1007P probably damaging Het
Tek A T 4: 94,804,341 (GRCm38) N229Y probably damaging Het
Tep1 A G 14: 50,836,768 (GRCm38) F1887L possibly damaging Het
Tet1 A T 10: 62,878,209 (GRCm38) C602* probably null Het
Tnfrsf19 A G 14: 60,972,036 (GRCm38) S262P possibly damaging Het
Trim5 T C 7: 104,265,684 (GRCm38) I393V probably benign Het
Trpm6 A G 19: 18,853,587 (GRCm38) E1272G probably benign Het
Ttc21b A T 2: 66,188,326 (GRCm38) Y1246N probably damaging Het
Ttll3 T A 6: 113,398,777 (GRCm38) L151H probably damaging Het
U2surp C T 9: 95,484,443 (GRCm38) V470I probably benign Het
Ubr1 A T 2: 120,946,657 (GRCm38) Y276N probably benign Het
Uggt1 A G 1: 36,179,670 (GRCm38) S59P probably benign Het
Unc45a T C 7: 80,326,344 (GRCm38) T796A probably damaging Het
Unc5b C A 10: 60,778,940 (GRCm38) V193F possibly damaging Het
Upp1 G T 11: 9,129,590 (GRCm38) M50I probably benign Het
Vps18 C T 2: 119,293,905 (GRCm38) R438C probably damaging Het
Zfp715 T C 7: 43,299,336 (GRCm38) Y400C possibly damaging Het
Zfp955b T C 17: 33,302,522 (GRCm38) Y322H probably benign 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
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
R6083:Sipa1l2 UTSW 8 125,468,473 (GRCm38) missense possibly damaging 0.87
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'- CACAGTCACAGATGTCCGCAGTAAG -3'
(R):5'- TGCCACATGAGCCAGGGTAAAAC -3'

Sequencing Primer
(F):5'- GCAGTAAGTCAATCATCTGCTCG -3'
(R):5'- GGTAAAACCCAGCTTTGGTTC -3'
Posted On 2013-04-24