Incidental Mutation 'R7069:Sipa1l1'
ID 548778
Institutional Source Beutler Lab
Gene Symbol Sipa1l1
Ensembl Gene ENSMUSG00000042700
Gene Name signal-induced proliferation-associated 1 like 1
Synonyms Spar, 4931426N11Rik
MMRRC Submission 045165-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7069 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 82216138-82498560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82388180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 135 (I135M)
Ref Sequence ENSEMBL: ENSMUSP00000152681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053969] [ENSMUST00000166429] [ENSMUST00000220963] [ENSMUST00000222298] [ENSMUST00000222714]
AlphaFold Q8C0T5
Predicted Effect probably damaging
Transcript: ENSMUST00000053969
AA Change: I135M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: I135M

DomainStartEndE-ValueType
low complexity region 92 129 N/A INTRINSIC
low complexity region 362 377 N/A INTRINSIC
low complexity region 430 449 N/A INTRINSIC
Pfam:Rap_GAP 628 810 8.9e-70 PFAM
PDZ 962 1028 2.63e-9 SMART
low complexity region 1149 1164 N/A INTRINSIC
low complexity region 1255 1279 N/A INTRINSIC
low complexity region 1315 1328 N/A INTRINSIC
low complexity region 1432 1447 N/A INTRINSIC
Pfam:SPAR_C 1483 1727 4.4e-86 PFAM
low complexity region 1731 1746 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166429
AA Change: I135M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: I135M

DomainStartEndE-ValueType
low complexity region 92 129 N/A INTRINSIC
low complexity region 362 377 N/A INTRINSIC
low complexity region 430 449 N/A INTRINSIC
Pfam:Rap_GAP 628 816 1.3e-64 PFAM
PDZ 962 1028 1.3e-11 SMART
low complexity region 1149 1164 N/A INTRINSIC
low complexity region 1255 1279 N/A INTRINSIC
low complexity region 1315 1328 N/A INTRINSIC
low complexity region 1432 1447 N/A INTRINSIC
Pfam:DUF3401 1483 1727 1.8e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000220963
AA Change: I135M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000222298
AA Change: I135M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000222714
AA Change: I135M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.0787 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (86/88)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 77,024,203 (GRCm39) I991L probably benign Het
Abtb3 C A 10: 85,223,520 (GRCm39) R110S unknown Het
Actg2 C A 6: 83,497,745 (GRCm39) G96V probably damaging Het
Adh5 T A 3: 138,156,812 (GRCm39) L166* probably null Het
Akap13 A G 7: 75,260,010 (GRCm39) D75G probably benign Het
Ank2 T C 3: 126,739,947 (GRCm39) probably benign Het
Arfgap1 T A 2: 180,615,913 (GRCm39) D197E probably benign Het
Aste1 T C 9: 105,273,906 (GRCm39) probably null Het
Atp8b2 T A 3: 89,861,878 (GRCm39) N78I probably damaging Het
Cacna2d3 T A 14: 28,691,260 (GRCm39) probably benign Het
Chrd T A 16: 20,558,183 (GRCm39) W809R probably damaging Het
Col2a1 C T 15: 97,896,469 (GRCm39) G60D unknown Het
Coro7 T A 16: 4,497,475 (GRCm39) M1L probably damaging Het
Cracdl A T 1: 37,670,982 (GRCm39) F97Y probably damaging Het
Dhx40 T C 11: 86,688,569 (GRCm39) I285V probably benign Het
Dop1a T C 9: 86,432,222 (GRCm39) probably null Het
Enox1 A T 14: 77,848,764 (GRCm39) R358S probably damaging Het
Ep400 A G 5: 110,815,990 (GRCm39) V2724A probably damaging Het
Fam221a A C 6: 49,355,432 (GRCm39) Q178P probably damaging Het
Fcho1 A C 8: 72,163,141 (GRCm39) probably null Het
Fndc1 A T 17: 7,988,567 (GRCm39) V1165D unknown Het
Gal3st2b A T 1: 93,868,341 (GRCm39) N189Y possibly damaging Het
Ghr T A 15: 3,349,966 (GRCm39) D404V probably damaging Het
Glis3 A T 19: 28,508,919 (GRCm39) V355D probably damaging Het
Gpr12 A C 5: 146,520,349 (GRCm39) V32G possibly damaging Het
Gspt1 T A 16: 11,040,525 (GRCm39) L593F probably damaging Het
H2-Q7 A T 17: 35,659,007 (GRCm39) T153S probably damaging Het
Hars2 A G 18: 36,921,009 (GRCm39) I194V probably damaging Het
Hdac9 T A 12: 34,479,548 (GRCm39) T202S possibly damaging Het
Hoxd13 T C 2: 74,499,368 (GRCm39) Y239H probably damaging Het
Insm2 C T 12: 55,646,621 (GRCm39) Q122* probably null Het
Insyn2b T A 11: 34,352,677 (GRCm39) C240S possibly damaging Het
Ip6k1 T A 9: 107,922,651 (GRCm39) probably null Het
Ippk T C 13: 49,615,219 (GRCm39) V534A probably damaging Het
Itch T G 2: 155,051,914 (GRCm39) F611C probably damaging Het
Itga1 A T 13: 115,104,776 (GRCm39) N1083K probably damaging Het
Itgae A C 11: 73,006,969 (GRCm39) D405A probably damaging Het
Kif18a T C 2: 109,125,347 (GRCm39) S255P probably damaging Het
Klhl24 C G 16: 19,926,231 (GRCm39) T253R probably benign Het
Krt81 T A 15: 101,358,609 (GRCm39) T307S possibly damaging Het
Lbr A T 1: 181,656,354 (GRCm39) W265R probably damaging Het
Lgals3bp T C 11: 118,283,999 (GRCm39) T527A probably benign Het
Lzts1 A C 8: 69,593,397 (GRCm39) V70G probably damaging Het
Map3k6 C T 4: 132,979,023 (GRCm39) P1154S probably benign Het
Masp1 T C 16: 23,271,205 (GRCm39) D681G probably benign Het
Mdga2 T C 12: 66,533,526 (GRCm39) N948D probably benign Het
Mettl4 A T 17: 95,041,061 (GRCm39) F364L probably damaging Het
Mosmo T C 7: 120,277,055 (GRCm39) I23T probably benign Het
Mtg1 G A 7: 139,723,657 (GRCm39) V96I probably benign Het
Myh11 T A 16: 14,036,803 (GRCm39) R966S possibly damaging Het
Ncapg2 A G 12: 116,388,337 (GRCm39) probably null Het
Nid1 G A 13: 13,683,353 (GRCm39) V1144I probably benign Het
Or4a77 T C 2: 89,486,910 (GRCm39) I292V probably benign Het
Or52a33 A T 7: 103,289,167 (GRCm39) M60K probably damaging Het
Or55b4 C A 7: 102,133,979 (GRCm39) C116F possibly damaging Het
Oscar T G 7: 3,614,238 (GRCm39) Y167S probably damaging Het
Pa2g4 T C 10: 128,396,559 (GRCm39) T200A probably benign Het
Pcdh7 A G 5: 57,877,126 (GRCm39) D227G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plce1 G A 19: 38,747,384 (GRCm39) G1702R probably damaging Het
Plxna2 C A 1: 194,476,212 (GRCm39) T1144K possibly damaging Het
Prl8a8 G A 13: 27,695,450 (GRCm39) T99I probably benign Het
Prr29 C A 11: 106,267,085 (GRCm39) H83Q probably damaging Het
Raly T A 2: 154,701,664 (GRCm39) I108N possibly damaging Het
Ranbp9 A T 13: 43,573,098 (GRCm39) S475R probably benign Het
Rogdi C A 16: 4,831,362 (GRCm39) probably benign Het
Rorc C T 3: 94,280,214 (GRCm39) Q6* probably null Het
Sacs T C 14: 61,449,945 (GRCm39) L3997S probably damaging Het
Scn2a A T 2: 65,594,950 (GRCm39) Y1933F probably benign Het
Sik3 T C 9: 46,122,041 (GRCm39) L898P probably damaging Het
Slc26a3 C A 12: 31,500,934 (GRCm39) Q224K probably damaging Het
Sobp G T 10: 42,897,436 (GRCm39) N716K probably benign Het
Spata16 A G 3: 26,981,483 (GRCm39) D513G probably damaging Het
Spata31h1 G A 10: 82,125,777 (GRCm39) T2411I probably damaging Het
Speer4a3 A T 5: 26,154,842 (GRCm39) S253T possibly damaging Het
Stac T C 9: 111,401,394 (GRCm39) R351G possibly damaging Het
Tecta T A 9: 42,306,237 (GRCm39) T64S probably benign Het
Tert G A 13: 73,776,529 (GRCm39) V427M probably damaging Het
Tex15 G A 8: 34,060,748 (GRCm39) M333I probably benign Het
Tmbim4 A T 10: 120,056,664 (GRCm39) Q72L probably benign Het
Trav9n-4 T C 14: 53,532,256 (GRCm39) S37P probably benign Het
Trpv5 A T 6: 41,652,894 (GRCm39) M93K possibly damaging Het
Ulk4 T C 9: 121,087,876 (GRCm39) E272G probably benign Het
Ulk4 T C 9: 121,095,583 (GRCm39) T79A probably benign Het
Upb1 A G 10: 75,248,602 (GRCm39) N41D probably benign Het
Wls A T 3: 159,639,965 (GRCm39) Y532F probably damaging Het
Zdhhc5 G A 2: 84,545,355 (GRCm39) probably benign Het
Zfp109 T C 7: 23,928,785 (GRCm39) D216G probably benign Het
Zfp473 G A 7: 44,381,798 (GRCm39) A845V probably damaging Het
Other mutations in Sipa1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Sipa1l1 APN 12 82,434,470 (GRCm39) missense probably benign 0.06
IGL01478:Sipa1l1 APN 12 82,493,672 (GRCm39) missense probably benign 0.00
IGL01620:Sipa1l1 APN 12 82,469,263 (GRCm39) missense probably damaging 0.97
IGL02496:Sipa1l1 APN 12 82,471,868 (GRCm39) missense probably damaging 1.00
IGL02550:Sipa1l1 APN 12 82,487,723 (GRCm39) nonsense probably null
IGL02689:Sipa1l1 APN 12 82,487,594 (GRCm39) missense probably benign 0.01
IGL02706:Sipa1l1 APN 12 82,444,207 (GRCm39) missense possibly damaging 0.95
IGL02995:Sipa1l1 APN 12 82,404,105 (GRCm39) missense probably benign 0.39
IGL03104:Sipa1l1 APN 12 82,388,904 (GRCm39) missense probably benign 0.05
IGL03295:Sipa1l1 APN 12 82,479,714 (GRCm39) missense probably damaging 1.00
bullae UTSW 12 82,389,024 (GRCm39) missense probably damaging 1.00
bullish UTSW 12 82,469,245 (GRCm39) nonsense probably null
ebullient UTSW 12 82,388,446 (GRCm39) missense probably benign 0.18
PIT4431001:Sipa1l1 UTSW 12 82,443,290 (GRCm39) missense probably benign 0.34
R0140:Sipa1l1 UTSW 12 82,442,974 (GRCm39) missense probably damaging 1.00
R0348:Sipa1l1 UTSW 12 82,431,530 (GRCm39) critical splice donor site probably null
R0534:Sipa1l1 UTSW 12 82,472,054 (GRCm39) missense possibly damaging 0.94
R0538:Sipa1l1 UTSW 12 82,471,873 (GRCm39) missense probably benign 0.00
R0547:Sipa1l1 UTSW 12 82,484,510 (GRCm39) missense probably benign
R0980:Sipa1l1 UTSW 12 82,388,994 (GRCm39) missense possibly damaging 0.60
R1051:Sipa1l1 UTSW 12 82,496,119 (GRCm39) missense possibly damaging 0.48
R1244:Sipa1l1 UTSW 12 82,472,190 (GRCm39) missense probably benign 0.00
R1473:Sipa1l1 UTSW 12 82,387,885 (GRCm39) missense probably damaging 1.00
R1508:Sipa1l1 UTSW 12 82,487,667 (GRCm39) missense probably damaging 1.00
R1563:Sipa1l1 UTSW 12 82,387,935 (GRCm39) missense probably benign 0.31
R1671:Sipa1l1 UTSW 12 82,444,235 (GRCm39) missense probably damaging 1.00
R1935:Sipa1l1 UTSW 12 82,419,208 (GRCm39) missense probably damaging 1.00
R1950:Sipa1l1 UTSW 12 82,388,233 (GRCm39) missense probably damaging 0.98
R2191:Sipa1l1 UTSW 12 82,443,465 (GRCm39) nonsense probably null
R2249:Sipa1l1 UTSW 12 82,388,890 (GRCm39) missense probably benign
R2909:Sipa1l1 UTSW 12 82,404,105 (GRCm39) missense probably benign 0.39
R4012:Sipa1l1 UTSW 12 82,388,556 (GRCm39) missense possibly damaging 0.86
R4154:Sipa1l1 UTSW 12 82,471,988 (GRCm39) missense possibly damaging 0.95
R4382:Sipa1l1 UTSW 12 82,493,596 (GRCm39) missense possibly damaging 0.46
R4448:Sipa1l1 UTSW 12 82,388,524 (GRCm39) missense probably benign 0.15
R4651:Sipa1l1 UTSW 12 82,469,245 (GRCm39) nonsense probably null
R4652:Sipa1l1 UTSW 12 82,469,245 (GRCm39) nonsense probably null
R4751:Sipa1l1 UTSW 12 82,387,968 (GRCm39) missense probably benign
R4755:Sipa1l1 UTSW 12 82,419,160 (GRCm39) missense possibly damaging 0.74
R4888:Sipa1l1 UTSW 12 82,389,107 (GRCm39) missense probably damaging 0.96
R4912:Sipa1l1 UTSW 12 82,443,452 (GRCm39) missense possibly damaging 0.89
R4937:Sipa1l1 UTSW 12 82,388,103 (GRCm39) missense probably benign 0.01
R5068:Sipa1l1 UTSW 12 82,484,601 (GRCm39) missense probably damaging 1.00
R5113:Sipa1l1 UTSW 12 82,487,682 (GRCm39) missense probably benign 0.11
R5114:Sipa1l1 UTSW 12 82,487,682 (GRCm39) missense probably benign 0.11
R5240:Sipa1l1 UTSW 12 82,388,362 (GRCm39) missense possibly damaging 0.92
R6041:Sipa1l1 UTSW 12 82,389,024 (GRCm39) missense probably damaging 1.00
R6048:Sipa1l1 UTSW 12 82,487,643 (GRCm39) missense probably benign 0.03
R6170:Sipa1l1 UTSW 12 82,388,446 (GRCm39) missense probably benign 0.18
R6185:Sipa1l1 UTSW 12 82,471,802 (GRCm39) missense probably damaging 1.00
R6326:Sipa1l1 UTSW 12 82,419,242 (GRCm39) missense probably damaging 1.00
R6842:Sipa1l1 UTSW 12 82,467,320 (GRCm39) missense probably benign 0.00
R7008:Sipa1l1 UTSW 12 82,409,886 (GRCm39) missense probably damaging 0.99
R7058:Sipa1l1 UTSW 12 82,449,896 (GRCm39) missense probably benign 0.00
R7122:Sipa1l1 UTSW 12 82,469,236 (GRCm39) missense possibly damaging 0.79
R7310:Sipa1l1 UTSW 12 82,419,269 (GRCm39) missense probably damaging 1.00
R7469:Sipa1l1 UTSW 12 82,467,438 (GRCm39) critical splice donor site probably null
R7718:Sipa1l1 UTSW 12 82,389,271 (GRCm39) missense probably damaging 1.00
R7787:Sipa1l1 UTSW 12 82,496,762 (GRCm39) missense possibly damaging 0.81
R7844:Sipa1l1 UTSW 12 82,444,267 (GRCm39) missense probably damaging 1.00
R7893:Sipa1l1 UTSW 12 82,388,342 (GRCm39) missense probably benign 0.00
R7953:Sipa1l1 UTSW 12 82,496,700 (GRCm39) missense probably damaging 1.00
R8043:Sipa1l1 UTSW 12 82,496,700 (GRCm39) missense probably damaging 1.00
R8099:Sipa1l1 UTSW 12 82,480,600 (GRCm39) missense probably benign 0.08
R8135:Sipa1l1 UTSW 12 82,388,075 (GRCm39) missense probably benign
R8229:Sipa1l1 UTSW 12 82,484,622 (GRCm39) missense probably damaging 1.00
R8348:Sipa1l1 UTSW 12 82,443,045 (GRCm39) missense probably benign 0.13
R8388:Sipa1l1 UTSW 12 82,216,259 (GRCm39) unclassified probably benign
R8693:Sipa1l1 UTSW 12 82,216,517 (GRCm39) unclassified probably benign
R8826:Sipa1l1 UTSW 12 82,389,207 (GRCm39) missense probably damaging 1.00
R8884:Sipa1l1 UTSW 12 82,409,871 (GRCm39) missense probably damaging 0.99
R8940:Sipa1l1 UTSW 12 82,404,040 (GRCm39) missense probably damaging 1.00
R8975:Sipa1l1 UTSW 12 82,479,612 (GRCm39) missense possibly damaging 0.87
R9145:Sipa1l1 UTSW 12 82,443,335 (GRCm39) missense probably benign 0.01
R9328:Sipa1l1 UTSW 12 82,388,792 (GRCm39) missense possibly damaging 0.63
R9455:Sipa1l1 UTSW 12 82,434,399 (GRCm39) missense probably damaging 1.00
R9486:Sipa1l1 UTSW 12 82,404,139 (GRCm39) critical splice donor site probably null
R9631:Sipa1l1 UTSW 12 82,387,776 (GRCm39) start codon destroyed probably null 0.39
R9727:Sipa1l1 UTSW 12 82,471,829 (GRCm39) missense probably damaging 1.00
R9753:Sipa1l1 UTSW 12 82,463,763 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GAATAGCAGATTGGCCTCCG -3'
(R):5'- GTCGATTGAAGATGTGCTGC -3'

Sequencing Primer
(F):5'- CAGATTGGCCTCCGAGAAAG -3'
(R):5'- AATGATGGCCCCGACTTGTAG -3'
Posted On 2019-05-13