Incidental Mutation 'R7192:Sipa1l2'
ID 559658
Institutional Source Beutler Lab
Gene Symbol Sipa1l2
Ensembl Gene ENSMUSG00000001995
Gene Name signal-induced proliferation-associated 1 like 2
Synonyms
MMRRC Submission 045333-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R7192 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 126144802-126296547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126149348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1637 (T1637I)
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: T1637I

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: T1637I

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: T1619I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212987
AA Change: T1637I

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (72/74)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik G A 2: 30,686,188 (GRCm39) T329I probably damaging Het
Actl6a C A 3: 32,774,373 (GRCm39) P290H probably damaging Het
Akap9 T A 5: 4,055,723 (GRCm39) probably null Het
Anxa2r2 T A 13: 120,488,241 (GRCm39) K103* probably null Het
Bach1 C T 16: 87,526,551 (GRCm39) S671L possibly damaging Het
Cacna1c T C 6: 118,633,210 (GRCm39) I1099V Het
Cage1 G T 13: 38,203,220 (GRCm39) P615T probably benign Het
Caskin2 C A 11: 115,692,202 (GRCm39) R861L probably damaging Het
Cc2d2b A G 19: 40,762,881 (GRCm39) T386A unknown Het
Ccndbp1 A G 2: 120,843,424 (GRCm39) D272G probably damaging Het
Cep192 T A 18: 67,983,599 (GRCm39) V1553E probably damaging Het
Cfhr4 T A 1: 139,667,033 (GRCm39) H414L probably damaging Het
Chrm5 C T 2: 112,310,672 (GRCm39) G148D probably damaging Het
Cntnap4 T C 8: 113,608,432 (GRCm39) V1284A probably benign Het
Cpd T C 11: 76,705,667 (GRCm39) Y355C probably damaging Het
Csmd3 C T 15: 47,567,633 (GRCm39) V1266I Het
Cyfip2 T C 11: 46,145,493 (GRCm39) E609G probably benign Het
Dbr1 T C 9: 99,458,755 (GRCm39) probably null Het
Dmxl1 T C 18: 50,088,920 (GRCm39) Y2800H probably damaging Het
Dnajc6 G T 4: 101,455,000 (GRCm39) A64S probably benign Het
Dpp8 A T 9: 64,953,068 (GRCm39) N248I possibly damaging Het
Dsp A T 13: 38,379,569 (GRCm39) I2105F probably benign Het
Edem1 G A 6: 108,805,965 (GRCm39) V89M probably benign Het
Eml4 A G 17: 83,761,890 (GRCm39) Q528R probably benign Het
Epb42 A T 2: 120,854,578 (GRCm39) V669D unknown Het
Fat4 A T 3: 39,034,613 (GRCm39) Q2755L probably benign Het
Gata6 A G 18: 11,054,475 (GRCm39) K135E possibly damaging Het
Gmeb1 A T 4: 131,955,201 (GRCm39) F325I probably benign Het
H2-M10.3 C T 17: 36,677,451 (GRCm39) E276K probably damaging Het
H4c17 A T 13: 21,996,227 (GRCm39) K92* probably null Het
Ifi207 T C 1: 173,556,584 (GRCm39) N718S not run Het
Il6st A G 13: 112,631,741 (GRCm39) N427D probably benign Het
Kat7 T A 11: 95,166,656 (GRCm39) M509L probably benign Het
Klk1b4 T C 7: 43,859,045 (GRCm39) V21A probably benign Het
Malt1 T A 18: 65,570,898 (GRCm39) L78Q probably benign Het
Mertk A G 2: 128,635,028 (GRCm39) probably null Het
Myo1b A G 1: 51,796,376 (GRCm39) L1016P probably damaging Het
Neu4 A G 1: 93,952,863 (GRCm39) I411V probably benign Het
Nutm2 A T 13: 50,627,105 (GRCm39) D420V probably damaging Het
Or10j3b T A 1: 173,043,575 (GRCm39) M119K probably damaging Het
Or2w2 A G 13: 21,758,539 (GRCm39) L29P probably damaging Het
Or4k1 T C 14: 50,377,577 (GRCm39) E173G possibly damaging Het
Or5ac24 T C 16: 59,165,542 (GRCm39) D174G probably benign Het
Pcdha12 C T 18: 37,153,316 (GRCm39) R12W probably benign Het
Pdgfra G T 5: 75,343,767 (GRCm39) D763Y probably damaging Het
Pkd2 T C 5: 104,634,523 (GRCm39) V518A probably benign Het
Prb1a G T 6: 132,184,335 (GRCm39) P433T unknown Het
Ptrh2 A G 11: 86,580,835 (GRCm39) T151A probably damaging Het
Qars1 T A 9: 108,388,760 (GRCm39) N273K probably damaging Het
Robo2 T C 16: 73,717,638 (GRCm39) Y1154C probably benign Het
Rps6kc1 T A 1: 190,532,556 (GRCm39) D482V probably damaging Het
Sec16b T C 1: 157,357,013 (GRCm39) S74P probably benign Het
Serpinb2 A T 1: 107,452,306 (GRCm39) I295F probably damaging Het
Sh3pxd2b T A 11: 32,364,318 (GRCm39) D301E probably damaging Het
Slc27a4 A T 2: 29,695,941 (GRCm39) N159Y probably damaging Het
Stat1 A C 1: 52,174,780 (GRCm39) K161Q possibly damaging Het
Stc2 T C 11: 31,319,872 (GRCm39) probably benign Het
Strip1 A G 3: 107,522,651 (GRCm39) W681R possibly damaging Het
Sv2a G A 3: 96,101,062 (GRCm39) G687S probably damaging Het
Thnsl2 C T 6: 71,116,739 (GRCm39) V138I probably benign Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tnfrsf1a T C 6: 125,338,559 (GRCm39) S235P unknown Het
Tpbg T A 9: 85,726,085 (GRCm39) L18* probably null Het
Trabd2b A T 4: 114,467,217 (GRCm39) Q482L possibly damaging Het
Trim35 T A 14: 66,534,895 (GRCm39) F126Y probably damaging Het
Ttn A T 2: 76,658,288 (GRCm39) V12364D unknown Het
Ubac2 A G 14: 122,211,128 (GRCm39) Y166C probably damaging Het
Unc13b T A 4: 43,258,519 (GRCm39) V1320D probably damaging Het
Usp34 T A 11: 23,410,571 (GRCm39) Y2693N Het
Utp20 A T 10: 88,608,321 (GRCm39) M1572K probably benign Het
Vmn1r7 C T 6: 57,001,452 (GRCm39) M269I probably benign Het
Vmn2r3 C T 3: 64,167,364 (GRCm39) G589D probably benign Het
Vrtn A T 12: 84,695,636 (GRCm39) M129L probably damaging Het
Zfp273 A T 13: 67,973,183 (GRCm39) T104S possibly damaging Het
Zfp384 T A 6: 125,010,275 (GRCm39) N390K probably damaging Het
Znfx1 A G 2: 166,884,110 (GRCm39) M933T 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
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
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'- GGATGATGAGAGTCAGTGCCTG -3'
(R):5'- AGGGTCAGCAGATTCCATTC -3'

Sequencing Primer
(F):5'- TGTAGAAGTTAGGCAGCTGTCTATGC -3'
(R):5'- GCAGATTCCATTCAGTAAATTGGTC -3'
Posted On 2019-06-26