Incidental Mutation 'R0634:Sipa1l2'
ID 58154
Institutional Source Beutler Lab
Gene Symbol Sipa1l2
Ensembl Gene ENSMUSG00000001995
Gene Name signal-induced proliferation-associated 1 like 2
Synonyms
MMRRC Submission 038823-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R0634 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 126144802-126296547 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 126149363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 1632 (L1632*)
Ref Sequence ENSEMBL: ENSMUSP00000148536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108775] [ENSMUST00000212168] [ENSMUST00000212987]
AlphaFold Q80TE4
Predicted Effect probably null
Transcript: ENSMUST00000108775
AA Change: L1632*
SMART Domains Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: L1632*

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 null
Transcript: ENSMUST00000212168
AA Change: L1614*
Predicted Effect probably null
Transcript: ENSMUST00000212987
AA Change: L1632*
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
Validation Efficiency 98% (62/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,264,491 (GRCm39) I2958V possibly damaging Het
Adam21 C A 12: 81,607,126 (GRCm39) W212L probably benign Het
Adcy2 A C 13: 68,876,064 (GRCm39) H479Q possibly damaging Het
Adcy4 T C 14: 56,019,054 (GRCm39) R168G probably benign Het
Adrm1b C T 3: 92,336,116 (GRCm39) W125* probably null Het
Atp13a2 T C 4: 140,734,240 (GRCm39) probably benign Het
C1ra G A 6: 124,494,464 (GRCm39) E304K possibly damaging Het
Cc2d2a A C 5: 43,838,723 (GRCm39) probably benign Het
Cenpe T C 3: 134,952,588 (GRCm39) L1426P probably damaging Het
Cntn1 A T 15: 92,212,444 (GRCm39) R869* probably null Het
Creb3l2 A T 6: 37,311,283 (GRCm39) probably benign Het
Crybg2 G A 4: 133,802,615 (GRCm39) probably benign Het
Csmd1 A T 8: 16,276,405 (GRCm39) F800I probably damaging Het
Dock6 G A 9: 21,752,823 (GRCm39) T330I probably damaging Het
Ets2 G A 16: 95,517,200 (GRCm39) E311K possibly damaging Het
Fbxo22 A T 9: 55,122,244 (GRCm39) Q141L probably benign Het
Fer C T 17: 64,342,503 (GRCm39) T223M probably benign Het
Gtf3c1 A T 7: 125,256,649 (GRCm39) probably benign Het
Gtf3c2 G A 5: 31,317,150 (GRCm39) R684* probably null Het
Hs6st3 T A 14: 120,106,474 (GRCm39) L294* probably null Het
Ighg2c T G 12: 113,251,584 (GRCm39) E181A unknown Het
Igkv6-15 A T 6: 70,383,763 (GRCm39) probably benign Het
Irag2 A T 6: 145,120,354 (GRCm39) H523L probably damaging Het
Map2k6 C T 11: 110,385,169 (GRCm39) R178* probably null Het
Meikin T A 11: 54,281,309 (GRCm39) D126E probably benign Het
Mgst1 A T 6: 138,133,329 (GRCm39) T37S probably damaging Het
Mrc2 G A 11: 105,238,518 (GRCm39) V1222M probably benign Het
Myom2 C A 8: 15,169,216 (GRCm39) probably benign Het
Negr1 A G 3: 156,721,903 (GRCm39) K159R possibly damaging Het
Nptx1 T C 11: 119,434,127 (GRCm39) T320A possibly damaging Het
Or12j3 A T 7: 139,953,310 (GRCm39) V71E possibly damaging Het
Or4p21 A T 2: 88,276,961 (GRCm39) M107K probably benign Het
Or5p66 T C 7: 107,885,503 (GRCm39) I277V probably benign Het
Pes1 C T 11: 3,927,794 (GRCm39) probably benign Het
Pes1 T G 11: 3,927,795 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,187,698 (GRCm39) Y3537N probably damaging Het
Poteg G A 8: 27,963,615 (GRCm39) G289R probably benign Het
Pramel29 A G 4: 143,935,910 (GRCm39) probably null Het
Rassf5 T C 1: 131,172,693 (GRCm39) R59G probably damaging Het
Reln A T 5: 22,223,867 (GRCm39) W961R probably damaging Het
Rhot2 G A 17: 26,061,002 (GRCm39) H168Y possibly damaging Het
Ripk3 G T 14: 56,025,848 (GRCm39) probably benign Het
Samm50 A G 15: 84,098,372 (GRCm39) silent Het
Sap30bp T C 11: 115,848,229 (GRCm39) I117T probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Sirt7 T C 11: 120,512,955 (GRCm39) probably benign Het
Smg8 T C 11: 86,976,934 (GRCm39) T216A possibly damaging Het
Sox9 A G 11: 112,675,768 (GRCm39) Y319C probably damaging Het
Sspn G A 6: 145,906,877 (GRCm39) A27T possibly damaging Het
Suco A G 1: 161,666,373 (GRCm39) V509A possibly damaging Het
Svep1 C T 4: 58,070,661 (GRCm39) C2375Y possibly damaging Het
Trbv21 T A 6: 41,179,984 (GRCm39) probably benign Het
Uimc1 C T 13: 55,208,079 (GRCm39) E455K possibly damaging Het
Upk3b A G 5: 136,068,930 (GRCm39) T100A possibly damaging Het
Usp47 A G 7: 111,707,862 (GRCm39) N1303D probably damaging Het
Vav1 A T 17: 57,610,862 (GRCm39) D476V probably benign Het
Vmn1r68 A G 7: 10,261,162 (GRCm39) V312A probably benign Het
Wdr62 A G 7: 29,969,599 (GRCm39) V287A probably damaging Het
Zcchc4 C T 5: 52,940,550 (GRCm39) P40S probably benign Het
Zfp326 T A 5: 106,034,069 (GRCm39) Y26* probably null Het
Zfp592 A G 7: 80,687,819 (GRCm39) H915R probably 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
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
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'- TGAAGACAGAACCAGGTTCCCCAG -3'
(R):5'- GGAGGGTCAGCAGATTCCATTCAG -3'

Sequencing Primer
(F):5'- GTTAACCATGACTCAGTTCACGG -3'
(R):5'- GCAGATTCCATTCAGTAAATTGGTC -3'
Posted On 2013-07-11