Incidental Mutation 'R4888:Sipa1l1'
ID 377128
Institutional Source Beutler Lab
Gene Symbol Sipa1l1
Ensembl Gene ENSMUSG00000042700
Gene Name signal-induced proliferation-associated 1 like 1
Synonyms Spar, 4931426N11Rik
MMRRC Submission 042493-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4888 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 82216138-82498560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82389107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 444 (S444R)
Ref Sequence ENSEMBL: ENSMUSP00000152681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053969] [ENSMUST00000166429] [ENSMUST00000220963] [ENSMUST00000222298] [ENSMUST00000222714]
AlphaFold Q8C0T5
Predicted Effect possibly damaging
Transcript: ENSMUST00000053969
AA Change: S444R

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: S444R

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 possibly damaging
Transcript: ENSMUST00000166429
AA Change: S444R

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: S444R

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 noncoding transcript
Transcript: ENSMUST00000220766
Predicted Effect probably damaging
Transcript: ENSMUST00000220963
AA Change: S444R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222298
AA Change: S444R

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222714
AA Change: S444R

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 99% (150/151)
Allele List at MGI
Other mutations in this stock
Total: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931403M11Rik C A 14: 24,671,419 (GRCm39) noncoding transcript Het
Abca7 A G 10: 79,838,562 (GRCm39) K612R probably damaging Het
Adamtsl3 T C 7: 82,223,822 (GRCm39) V275A possibly damaging Het
Afg3l1 G A 8: 124,215,065 (GRCm39) probably null Het
Ajm1 G A 2: 25,469,759 (GRCm39) R51C possibly damaging Het
Alcam T A 16: 52,089,176 (GRCm39) H508L probably benign Het
Ankrd45 G A 1: 160,982,942 (GRCm39) R151H probably damaging Het
Aqr G A 2: 113,980,990 (GRCm39) L264F probably damaging Het
Arfgef2 G A 2: 166,677,533 (GRCm39) A53T probably damaging Het
Arhgap30 A G 1: 171,236,880 (GRCm39) T1085A probably benign Het
Atp10a T C 7: 58,435,055 (GRCm39) V314A probably damaging Het
Bdp1 T C 13: 100,187,627 (GRCm39) D1580G probably benign Het
Btbd17 T A 11: 114,684,917 (GRCm39) T41S possibly damaging Het
Cacna1c T C 6: 118,728,400 (GRCm39) N378S probably damaging Het
Camsap1 G T 2: 25,825,562 (GRCm39) Q1375K probably benign Het
Catsper2 G T 2: 121,227,604 (GRCm39) probably null Het
Cblif A G 19: 11,729,583 (GRCm39) T181A probably benign Het
Ccar1 A G 10: 62,588,997 (GRCm39) S829P unknown Het
Ccdc180 T C 4: 45,909,308 (GRCm39) L492P probably damaging Het
Ccser2 A T 14: 36,662,343 (GRCm39) N280K probably damaging Het
Cd37 T C 7: 44,883,359 (GRCm39) D271G probably damaging Het
Cdcp1 G A 9: 123,011,194 (GRCm39) probably benign Het
Cemip2 T C 19: 21,833,528 (GRCm39) V1322A probably benign Het
Cep85 T A 4: 133,892,062 (GRCm39) probably benign Het
Cfi C T 3: 129,666,726 (GRCm39) P483L probably damaging Het
Csmd1 A G 8: 15,945,674 (GRCm39) probably benign Het
Cytl1 G T 5: 37,892,918 (GRCm39) L9F unknown Het
Defb26 T C 2: 152,350,085 (GRCm39) E65G possibly damaging Het
Degs1 G A 1: 182,104,370 (GRCm39) T305I probably damaging Het
Dnttip2 T G 3: 122,070,241 (GRCm39) C485W probably damaging Het
Ecel1 G A 1: 87,076,449 (GRCm39) probably benign Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Elmo2 A T 2: 165,137,209 (GRCm39) C562S probably benign Het
Etl4 T A 2: 20,344,922 (GRCm39) probably null Het
F2r A C 13: 95,740,905 (GRCm39) V210G probably damaging Het
Fam171a1 T A 2: 3,224,546 (GRCm39) V179E probably damaging Het
Fmod G T 1: 133,967,977 (GRCm39) V6F possibly damaging Het
Foxr2 A G X: 151,913,312 (GRCm39) Q61R probably damaging Het
Gabra4 G A 5: 71,729,546 (GRCm39) H76Y probably benign Het
Gck A T 11: 5,859,150 (GRCm39) M139K possibly damaging Het
Gm10192 C G 4: 97,071,345 (GRCm39) S20T probably null Het
Gm44501 T C 17: 40,887,515 (GRCm39) L11P unknown Het
Gm572 T C 4: 148,751,302 (GRCm39) probably null Het
Gnas A G 2: 174,139,882 (GRCm39) K17R possibly damaging Het
Grm2 T A 9: 106,527,865 (GRCm39) S340C probably damaging Het
Gsc T A 12: 104,438,274 (GRCm39) H198L probably damaging Het
H2-Q3 A T 17: 35,578,424 (GRCm39) noncoding transcript Het
H4c1 T C 13: 23,944,935 (GRCm39) D69G probably damaging Het
Hivep3 A G 4: 119,980,131 (GRCm39) E1723G probably damaging Het
Hk3 A T 13: 55,154,405 (GRCm39) L757Q probably damaging Het
Homer2 A T 7: 81,299,311 (GRCm39) D51E probably benign Het
Ier3ip1 T A 18: 77,027,227 (GRCm39) probably benign Het
Itch T A 2: 155,059,897 (GRCm39) probably null Het
Kalrn T A 16: 33,991,700 (GRCm39) Q974L probably damaging Het
Kirrel3 G T 9: 34,924,601 (GRCm39) G296W probably damaging Het
Klhl17 A G 4: 156,315,082 (GRCm39) V525A probably benign Het
Klhl9 T C 4: 88,640,182 (GRCm39) K20E probably benign Het
Kmt2a G T 9: 44,732,977 (GRCm39) probably benign Het
Krt17 C A 11: 100,147,305 (GRCm39) V409L probably benign Het
Lmx1b T C 2: 33,454,802 (GRCm39) N322S probably benign Het
Lrrc63 G C 14: 75,363,406 (GRCm39) P242A probably benign Het
Ltk T C 2: 119,583,708 (GRCm39) N256D probably damaging Het
Map3k19 T A 1: 127,745,470 (GRCm39) E1328V probably damaging Het
Map4k2 C T 19: 6,394,033 (GRCm39) A280V probably benign Het
Micall1 C T 15: 79,016,048 (GRCm39) R802* probably null Het
Mmp14 A G 14: 54,673,662 (GRCm39) R109G probably damaging Het
Mmp27 A T 9: 7,581,369 (GRCm39) H544L probably benign Het
Mpeg1 A G 19: 12,440,434 (GRCm39) T631A probably damaging Het
Mpnd A G 17: 56,318,641 (GRCm39) M217V probably benign Het
Mrc2 T C 11: 105,232,034 (GRCm39) V862A probably damaging Het
Mug2 T A 6: 122,058,154 (GRCm39) S1239T probably damaging Het
Myb T A 10: 21,002,137 (GRCm39) M616L probably benign Het
Myo18b A T 5: 113,022,346 (GRCm39) probably benign Het
Myo1c C A 11: 75,560,053 (GRCm39) T703N probably damaging Het
Myt1l T G 12: 29,936,138 (GRCm39) C909G unknown Het
Nbea T C 3: 55,912,776 (GRCm39) S1004G possibly damaging Het
Neb T C 2: 52,186,319 (GRCm39) N918D probably benign Het
Nrtn T C 17: 57,058,636 (GRCm39) T122A probably damaging Het
Nsd3 A T 8: 26,188,939 (GRCm39) S1042C probably damaging Het
Ntmt2 A T 1: 163,530,633 (GRCm39) C269S probably benign Het
Nvl A G 1: 180,945,191 (GRCm39) L461S probably damaging Het
Onecut2 A T 18: 64,473,998 (GRCm39) H183L possibly damaging Het
Or13p5 A C 4: 118,591,885 (GRCm39) H53P probably benign Het
Or2h2 G A 17: 37,396,343 (GRCm39) T238I probably damaging Het
Or4d10 C G 19: 12,051,679 (GRCm39) G106R probably damaging Het
Or52e4 A G 7: 104,705,689 (GRCm39) T79A possibly damaging Het
Or5c1 T G 2: 37,222,601 (GRCm39) F281V probably damaging Het
Or6c1b A C 10: 129,273,248 (GRCm39) D189A possibly damaging Het
Or6z5 A T 7: 6,477,612 (GRCm39) I168F probably damaging Het
Pcdhb21 G T 18: 37,648,130 (GRCm39) V420F possibly damaging Het
Pcdhb9 G A 18: 37,536,286 (GRCm39) G760D probably benign Het
Pglyrp2 G A 17: 32,637,771 (GRCm39) P86S probably benign Het
Phyhip T A 14: 70,704,765 (GRCm39) V328E probably damaging Het
Pitpnb A T 5: 111,530,862 (GRCm39) K218N possibly damaging Het
Pitrm1 A G 13: 6,628,596 (GRCm39) D963G probably damaging Het
Pmfbp1 A G 8: 110,258,792 (GRCm39) Y699C probably damaging Het
Pmpcb T A 5: 21,945,660 (GRCm39) probably benign Het
Polg A T 7: 79,114,353 (GRCm39) W203R probably damaging Het
Pramel22 A G 4: 143,380,971 (GRCm39) S351P probably benign Het
Prss41 A T 17: 24,055,977 (GRCm39) M252K probably benign Het
Prss46 A T 9: 110,673,618 (GRCm39) M1L possibly damaging Het
Rimklb T C 6: 122,441,051 (GRCm39) probably null Het
Rngtt T C 4: 33,500,335 (GRCm39) I556T unknown Het
Rock1 A C 18: 10,122,698 (GRCm39) D374E probably benign Het
Rspry1 C A 8: 95,385,417 (GRCm39) H450N probably benign Het
Rusc2 T C 4: 43,423,942 (GRCm39) V1032A probably damaging Het
Sacs A G 14: 61,449,647 (GRCm39) R3898G probably damaging Het
Scnn1b A T 7: 121,502,110 (GRCm39) H256L probably benign Het
Sh3gl2 T A 4: 85,297,494 (GRCm39) H157Q probably benign Het
Sntg1 T A 1: 8,433,818 (GRCm39) I478F probably damaging Het
Spata31e2 A G 1: 26,722,628 (GRCm39) Y851H probably benign Het
Sptb G T 12: 76,655,811 (GRCm39) L1424M probably benign Het
Sry T A Y: 2,663,105 (GRCm39) H185L unknown Het
Stox2 T G 8: 47,656,198 (GRCm39) T93P probably damaging Het
Tatdn2 T A 6: 113,681,566 (GRCm39) F472Y possibly damaging Het
Tefm A T 11: 80,031,185 (GRCm39) V17D possibly damaging Het
Tekt2 G T 4: 126,218,460 (GRCm39) T70N probably benign Het
Ticam1 T C 17: 56,578,642 (GRCm39) D151G probably damaging Het
Tmem63c A G 12: 87,136,139 (GRCm39) E785G probably damaging Het
Tnmd A T X: 132,765,551 (GRCm39) N219I probably benign Het
Ttc14 T A 3: 33,861,024 (GRCm39) L407* probably null Het
Ttll7 T C 3: 146,599,932 (GRCm39) M1T probably null Het
Ttn T A 2: 76,746,835 (GRCm39) probably null Het
Uchl1 T C 5: 66,833,780 (GRCm39) M12T probably benign Het
Uggt2 A T 14: 119,315,062 (GRCm39) probably null Het
Uggt2 T C 14: 119,286,665 (GRCm39) T224A probably damaging Het
Umodl1 A G 17: 31,218,175 (GRCm39) E1254G probably damaging Het
Unc5d A G 8: 29,156,927 (GRCm39) F773L probably benign Het
Unc80 C A 1: 66,683,606 (GRCm39) P2216Q probably damaging Het
Usp40 T A 1: 87,913,923 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,421 (GRCm39) M209K probably damaging Het
Vmn2r44 A T 7: 8,380,985 (GRCm39) W303R probably benign Het
Wnk2 G A 13: 49,224,478 (GRCm39) R268C probably damaging Het
Wnt2 T C 6: 18,023,125 (GRCm39) K175E possibly damaging Het
Xkr6 T C 14: 64,056,953 (GRCm39) V288A unknown Het
Zfp125 A G 12: 20,950,459 (GRCm39) noncoding transcript Het
Zfp512b A C 2: 181,228,856 (GRCm39) V703G probably damaging Het
Zglp1 A T 9: 20,973,957 (GRCm39) I243N probably benign Het
Zgpat T C 2: 181,020,651 (GRCm39) S275P probably benign 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
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
R7069:Sipa1l1 UTSW 12 82,388,180 (GRCm39) missense probably damaging 0.99
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'- TCTCACTCAGCCAGCTTCAG -3'
(R):5'- ACACTCAGTATACTACACACTGTTG -3'

Sequencing Primer
(F):5'- TTCAGCTCTCCCATGGGCAG -3'
(R):5'- TAAGCACCTACTCACCCTTCTGG -3'
Posted On 2016-03-17