Incidental Mutation 'R7604:Sipa1l2'
ID 588177
Institutional Source Beutler Lab
Gene Symbol Sipa1l2
Ensembl Gene ENSMUSG00000001995
Gene Name signal-induced proliferation-associated 1 like 2
Synonyms
MMRRC Submission 045644-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R7604 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 126144802-126296547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126146011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1681 (V1681E)
Ref Sequence ENSEMBL: ENSMUSP00000104405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108775] [ENSMUST00000212168] [ENSMUST00000212987]
AlphaFold Q80TE4
Predicted Effect probably benign
Transcript: ENSMUST00000108775
AA Change: V1681E

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: V1681E

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: V1663E

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000212987
AA Change: V1681E

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A T 3: 146,356,415 (GRCm39) Y164* probably null Het
Abce1 G A 8: 80,426,003 (GRCm39) T258M probably benign Het
Actl7b G C 4: 56,740,693 (GRCm39) P222A probably benign Het
Adam2 T C 14: 66,293,990 (GRCm39) N279S probably benign Het
Adamts13 A G 2: 26,895,218 (GRCm39) D1103G probably benign Het
Aff1 G A 5: 103,995,675 (GRCm39) S1089N probably benign Het
Ahcyl2 T C 6: 29,768,555 (GRCm39) S7P unknown Het
Anks1b A G 10: 90,096,708 (GRCm39) probably null Het
Azin1 A C 15: 38,491,878 (GRCm39) D359E probably damaging Het
Bahd1 A G 2: 118,746,791 (GRCm39) T137A probably benign Het
Bltp1 A G 3: 37,003,992 (GRCm39) probably null Het
C1qbp A G 11: 70,869,598 (GRCm39) S162P probably damaging Het
C1rb A G 6: 124,557,443 (GRCm39) M527V not run Het
Ccdc88c A T 12: 100,896,806 (GRCm39) D1381E probably damaging Het
Ccdc90b A G 7: 92,227,738 (GRCm39) Y234C probably damaging Het
Cfap91 C A 16: 38,118,598 (GRCm39) E734* probably null Het
Cyp11b2 A T 15: 74,725,599 (GRCm39) probably null Het
Dchs1 A G 7: 105,415,189 (GRCm39) V665A probably damaging Het
Dhx8 T C 11: 101,655,623 (GRCm39) S1119P probably damaging Het
Dnah6 T C 6: 73,069,151 (GRCm39) D2512G probably damaging Het
Dnah8 T C 17: 31,032,069 (GRCm39) Y4130H probably damaging Het
E4f1 G T 17: 24,674,207 (GRCm39) A19D unknown Het
Eftud2 T C 11: 102,738,838 (GRCm39) D517G possibly damaging Het
Epha6 T A 16: 60,026,135 (GRCm39) I436F possibly damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ezh1 A G 11: 101,107,855 (GRCm39) M74T probably benign Het
Galnt14 T A 17: 73,811,916 (GRCm39) K435M possibly damaging Het
Garin2 C A 12: 78,761,788 (GRCm39) Q151K probably damaging Het
Gde1 A T 7: 118,304,759 (GRCm39) Y39N possibly damaging Het
Gldn G A 9: 54,245,877 (GRCm39) R476Q probably benign Het
Gm32742 G T 9: 51,068,062 (GRCm39) R307S probably benign Het
Gnao1 T G 8: 94,670,972 (GRCm39) N150K Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gria4 A G 9: 4,464,315 (GRCm39) M549T probably damaging Het
Grik3 C A 4: 125,517,428 (GRCm39) D90E probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Hspd1 T C 1: 55,119,496 (GRCm39) E327G probably benign Het
Kif6 T C 17: 49,978,129 (GRCm39) I107T probably damaging Het
Kmt2e C T 5: 23,706,763 (GRCm39) T1442M not run Het
Lama3 C T 18: 12,633,550 (GRCm39) H1561Y possibly damaging Het
Lpcat3 A G 6: 124,679,493 (GRCm39) N331S probably benign Het
Lrrc63 C A 14: 75,322,409 (GRCm39) W565L possibly damaging Het
Malrd1 A G 2: 15,930,003 (GRCm39) N1503S unknown Het
Mcm7 C T 5: 138,167,986 (GRCm39) V38I probably benign Het
Mphosph9 C T 5: 124,454,180 (GRCm39) V106I probably benign Het
Mroh8 G T 2: 157,111,484 (GRCm39) L157I possibly damaging Het
Mta2 T A 19: 8,923,200 (GRCm39) S91T probably damaging Het
Muc5ac A T 7: 141,363,446 (GRCm39) Q2252H unknown Het
Ndufs7 G T 10: 80,089,531 (GRCm39) V59L probably benign Het
Nrxn2 T C 19: 6,581,991 (GRCm39) L1642P probably damaging Het
Or8k21 G A 2: 86,145,244 (GRCm39) P129S probably damaging Het
Pbxip1 A T 3: 89,352,902 (GRCm39) I183L probably benign Het
Peak1 A T 9: 56,148,491 (GRCm39) L1085* probably null Het
Phf20l1 A G 15: 66,475,933 (GRCm39) T189A probably benign Het
Poteg T A 8: 27,948,683 (GRCm39) probably null Het
Proc G A 18: 32,267,831 (GRCm39) probably null Het
Prr36 G A 8: 4,264,836 (GRCm39) R277C unknown Het
Ptpn3 T C 4: 57,240,845 (GRCm39) N257D probably damaging Het
Rnf5 C A 17: 34,820,638 (GRCm39) V150L probably benign Het
Sbf2 T A 7: 109,977,274 (GRCm39) Q666L possibly damaging Het
Sdk2 C T 11: 113,720,795 (GRCm39) R1378H possibly damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc15a5 A T 6: 138,056,784 (GRCm39) L44Q probably damaging Het
Slc29a1 C A 17: 45,903,250 (GRCm39) probably null Het
Slc5a8 G T 10: 88,740,822 (GRCm39) V246F possibly damaging Het
Spint2 T C 7: 28,957,944 (GRCm39) E154G probably damaging Het
Sycp1 A T 3: 102,820,749 (GRCm39) S413T probably damaging Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Trio A T 15: 27,736,531 (GRCm39) probably null Het
Unc13b A G 4: 43,170,102 (GRCm39) Y310C unknown Het
Unc13b A G 4: 43,256,776 (GRCm39) T1155A possibly damaging Het
Vmn2r79 A G 7: 86,652,592 (GRCm39) probably null Het
Xpo7 T A 14: 70,909,110 (GRCm39) S803C probably damaging Het
Zfp747l1 T C 7: 126,985,707 (GRCm39) T95A unknown 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
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'- TTGCTGACTTGGAAGGGAC -3'
(R):5'- GATAGACTTCCTACACAGCGG -3'

Sequencing Primer
(F):5'- CTGACTTGGAAGGGACCACGG -3'
(R):5'- TTCCTACACAGCGGCTCCG -3'
Posted On 2019-10-24