Incidental Mutation 'R4240:Sipa1l2'
ID 320173
Institutional Source Beutler Lab
Gene Symbol Sipa1l2
Ensembl Gene ENSMUSG00000001995
Gene Name signal-induced proliferation-associated 1 like 2
Synonyms
MMRRC Submission 041057-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R4240 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 126144802-126296547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126218395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 314 (E314G)
Ref Sequence ENSEMBL: ENSMUSP00000148557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108775] [ENSMUST00000212168] [ENSMUST00000212987]
AlphaFold Q80TE4
Predicted Effect probably benign
Transcript: ENSMUST00000108775
AA Change: E314G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: E314G

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 benign
Transcript: ENSMUST00000212168
AA Change: E314G

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000212987
AA Change: E314G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.1806 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 93% (50/54)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,603,478 (GRCm39) P93S probably benign Het
4930488N24Rik A T 17: 14,326,049 (GRCm39) noncoding transcript Het
Areg A T 5: 91,291,375 (GRCm39) N106I probably damaging Het
Ceacam3 G A 7: 16,893,949 (GRCm39) E487K possibly damaging Het
Cfap46 G T 7: 139,246,203 (GRCm39) Q387K possibly damaging Het
Cfap74 C A 4: 155,547,529 (GRCm39) H1238Q probably benign Het
Cnot6l T C 5: 96,225,221 (GRCm39) T491A probably benign Het
Cog7 C T 7: 121,524,707 (GRCm39) V696M possibly damaging Het
Col22a1 C T 15: 71,878,980 (GRCm39) G59D probably damaging Het
Ddi1 A G 9: 6,265,799 (GRCm39) M190T probably benign Het
Eno1b T A 18: 48,180,907 (GRCm39) S362T probably benign Het
Erbb2 A G 11: 98,318,869 (GRCm39) K549R probably benign Het
Fam170a A T 18: 50,414,734 (GRCm39) M127L possibly damaging Het
Gm1979 T C 5: 26,206,119 (GRCm39) T154A probably benign Het
Gm6871 G T 7: 41,195,204 (GRCm39) T511K probably damaging Het
Hsf4 A G 8: 106,001,513 (GRCm39) T378A possibly damaging Het
Irf2bpl C A 12: 86,929,691 (GRCm39) Q327H possibly damaging Het
Klk6 A G 7: 43,478,597 (GRCm39) H168R probably benign Het
Kmt2d G A 15: 98,742,452 (GRCm39) probably benign Het
Kplce T C 3: 92,775,898 (GRCm39) I262V possibly damaging Het
Lad1 T A 1: 135,755,033 (GRCm39) V103D possibly damaging Het
Mcm4 A T 16: 15,445,570 (GRCm39) Y692* probably null Het
Med15 C T 16: 17,473,358 (GRCm39) R497H probably damaging Het
Mfrp T C 9: 44,014,163 (GRCm39) V177A possibly damaging Het
Mr1 T C 1: 155,012,413 (GRCm39) E167G probably damaging Het
Myo18b A G 5: 112,951,053 (GRCm39) probably null Het
Myom2 A G 8: 15,182,895 (GRCm39) D1444G probably benign Het
Nes C A 3: 87,886,666 (GRCm39) P1598T probably damaging Het
Nlrp4d A T 7: 10,115,243 (GRCm39) H479Q noncoding transcript Het
Nphp4 A G 4: 152,640,141 (GRCm39) D1009G probably benign Het
Or13a25 A G 7: 140,247,496 (GRCm39) N99D probably benign Het
Pate10 T A 9: 35,653,449 (GRCm39) Y84* probably null Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Prc1 G A 7: 79,960,964 (GRCm39) probably benign Het
Rdh7 T C 10: 127,721,671 (GRCm39) I202V probably benign Het
Rsf1 C CGGCGGCGGT 7: 97,229,142 (GRCm39) probably benign Het
Sgsm3 A G 15: 80,895,983 (GRCm39) probably benign Het
Slc8a3 T C 12: 81,361,950 (GRCm39) K290E probably damaging Het
Tbc1d17 T C 7: 44,496,250 (GRCm39) Y84C probably damaging Het
Usp46 T G 5: 74,192,928 (GRCm39) probably benign Het
Vmn2r14 T G 5: 109,364,277 (GRCm39) probably null Het
Vmn2r8 A T 5: 108,945,369 (GRCm39) V746D probably damaging Het
Xdh A G 17: 74,202,790 (GRCm39) V1120A possibly damaging Het
Zbtb38 CTCTTCTTCTTCTTCTTCTTCTTC CTCTTCTTCTTCTTCTTCTTC 9: 96,568,155 (GRCm39) probably benign Het
Zfp791 T C 8: 85,836,295 (GRCm39) H523R probably null Het
Zfp870 A G 17: 33,104,710 (GRCm39) I53T probably benign 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
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
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'- AGTTGAGGTCCTCCTTACTGCC -3'
(R):5'- TTGTCCGCATCTCAGGGTTG -3'

Sequencing Primer
(F):5'- TCCTTACTGCCCAGCGG -3'
(R):5'- CATCTCAGGGTTGGACTACATG -3'
Posted On 2015-06-12