Incidental Mutation 'PIT4431001:Sipa1l1'
ID 555265
Institutional Source Beutler Lab
Gene Symbol Sipa1l1
Ensembl Gene ENSMUSG00000042700
Gene Name signal-induced proliferation-associated 1 like 1
Synonyms Spar, 4931426N11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4431001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 82216138-82498560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82443290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 860 (V860E)
Ref Sequence ENSEMBL: ENSMUSP00000131030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053969] [ENSMUST00000166429] [ENSMUST00000220963] [ENSMUST00000222298] [ENSMUST00000222714]
AlphaFold Q8C0T5
Predicted Effect probably benign
Transcript: ENSMUST00000053969
AA Change: V860E

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: V860E

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 benign
Transcript: ENSMUST00000166429
AA Change: V860E

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: V860E

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 possibly damaging
Transcript: ENSMUST00000220963
AA Change: V860E

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222298
AA Change: V860E

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000222714
AA Change: V860E

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 90.7%
  • 10x: 84.7%
  • 20x: 71.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik A G 5: 146,439,322 (GRCm39) I29V probably benign Het
5730455P16Rik C A 11: 80,254,750 (GRCm39) C357F probably damaging Het
Actr1a A T 19: 46,370,731 (GRCm39) probably null Het
Adcy1 C G 11: 7,014,089 (GRCm39) Q164E possibly damaging Het
Arhgap35 A T 7: 16,295,536 (GRCm39) S1176R possibly damaging Het
Atad2b A G 12: 5,081,795 (GRCm39) T1235A possibly damaging Het
Atosb C A 4: 43,036,024 (GRCm39) G236C probably damaging Het
Atp8a2 T C 14: 59,892,075 (GRCm39) D1091G probably benign Het
Bmp6 T C 13: 38,669,906 (GRCm39) S397P probably benign Het
C3 A T 17: 57,513,242 (GRCm39) N1468K probably benign Het
Ccnjl CGCG CGCGGCG 11: 43,470,534 (GRCm39) probably benign Het
Ccr1 T C 9: 123,764,231 (GRCm39) I100V probably benign Het
Cep162 T A 9: 87,126,398 (GRCm39) R171S probably benign Het
Chd8 T C 14: 52,455,706 (GRCm39) H994R probably damaging Het
Cntn3 T A 6: 102,441,527 (GRCm39) K6N probably benign Het
Cope A G 8: 70,765,417 (GRCm39) E289G probably damaging Het
Cpne8 T G 15: 90,436,178 (GRCm39) E279A probably damaging Het
Cyp11a1 A T 9: 57,923,555 (GRCm39) probably null Het
Dcp2 A G 18: 44,545,638 (GRCm39) K333R probably benign Het
Dpp6 G T 5: 27,836,496 (GRCm39) V329F probably benign Het
Drc1 T A 5: 30,504,417 (GRCm39) D186E probably damaging Het
Dsc2 G A 18: 20,179,334 (GRCm39) Q245* probably null Het
Eef1e1 T C 13: 38,842,938 (GRCm39) E11G probably damaging Het
Emilin2 G A 17: 71,562,990 (GRCm39) P915S probably benign Het
Fpgt A G 3: 154,792,422 (GRCm39) M535T possibly damaging Het
Fxyd3 G A 7: 30,770,780 (GRCm39) L37F probably damaging Het
Gal3st2c T A 1: 93,935,834 (GRCm39) I62N probably damaging Het
Gdpd3 T C 7: 126,365,647 (GRCm39) I2T probably benign Het
Gm9611 T C 14: 42,115,888 (GRCm39) M169V Het
Ints3 G A 3: 90,303,767 (GRCm39) T720I probably damaging Het
Itpr2 T G 6: 146,256,218 (GRCm39) M992L probably benign Het
L3mbtl2 T A 15: 81,560,508 (GRCm39) H256Q probably benign Het
Lama2 T C 10: 26,977,426 (GRCm39) T1918A probably damaging Het
Lpcat2b G A 5: 107,581,997 (GRCm39) G442D probably damaging Het
Lrp1b C T 2: 40,894,767 (GRCm39) V2268M Het
Macc1 T C 12: 119,410,246 (GRCm39) L338P probably benign Het
Mtmr2 T C 9: 13,704,475 (GRCm39) F201L probably benign Het
Mtr C T 13: 12,227,329 (GRCm39) V772M probably damaging Het
Mtus2 A G 5: 148,013,515 (GRCm39) T103A probably benign Het
Myo5c A G 9: 75,159,853 (GRCm39) I294V possibly damaging Het
Ncam1 A T 9: 49,709,993 (GRCm39) F13I probably benign Het
Or4a75 T C 2: 89,448,201 (GRCm39) I112V probably benign Het
Paqr6 A T 3: 88,273,084 (GRCm39) I52F possibly damaging Het
Pde2a T G 7: 101,151,104 (GRCm39) V271G probably damaging Het
Pde7b T C 10: 20,276,291 (GRCm39) H405R possibly damaging Het
Plxnb1 A G 9: 108,929,786 (GRCm39) Y214C probably damaging Het
Pmp22 T C 11: 63,042,067 (GRCm39) F101L probably benign Het
Pold1 A G 7: 44,188,318 (GRCm39) L520P probably damaging Het
Pramel1 A G 4: 143,124,960 (GRCm39) T295A possibly damaging Het
Psg20 A T 7: 18,408,475 (GRCm39) I415N probably damaging Het
Ptcd2 T A 13: 99,476,527 (GRCm39) R71* probably null Het
Ptgs1 A T 2: 36,130,692 (GRCm39) N197I probably damaging Het
Rbfox3 T C 11: 118,386,047 (GRCm39) D333G probably damaging Het
Rfx7 T A 9: 72,525,253 (GRCm39) H814Q probably benign Het
Rptn TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG 3: 93,304,704 (GRCm39) probably benign Het
Serpina3i A T 12: 104,231,432 (GRCm39) H23L probably benign Het
Slc12a1 T A 2: 125,032,124 (GRCm39) Y592N possibly damaging Het
Slco2a1 T C 9: 102,927,467 (GRCm39) F120S probably damaging Het
Smyd4 T C 11: 75,294,339 (GRCm39) F740S probably damaging Het
Sppl2a T C 2: 126,765,396 (GRCm39) Y242C probably damaging Het
Sqle A G 15: 59,195,509 (GRCm39) K288R probably benign Het
Tbc1d17 A G 7: 44,494,498 (GRCm39) S246P probably benign Het
Tenm3 G A 8: 48,688,642 (GRCm39) T2315M probably damaging Het
Tgfb1i1 C T 7: 127,848,353 (GRCm39) R191C probably damaging Het
Thumpd3 T A 6: 113,036,939 (GRCm39) N279K probably benign Het
Tmed5 T A 5: 108,277,887 (GRCm39) H95L possibly damaging Het
Tmem161a T C 8: 70,634,674 (GRCm39) L443P probably damaging Het
Ttc38 C A 15: 85,720,328 (GRCm39) Q97K probably benign Het
Unc13c C A 9: 73,656,829 (GRCm39) C1124F probably damaging Het
Vmn2r102 A G 17: 19,896,958 (GRCm39) T102A possibly damaging Het
Vwce G A 19: 10,641,946 (GRCm39) E891K possibly damaging Het
Xkr5 A T 8: 18,984,361 (GRCm39) S394T possibly damaging Het
Zan C T 5: 137,390,326 (GRCm39) C4747Y unknown Het
Zfp804a T C 2: 82,089,536 (GRCm39) F1122L 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
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
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'- AAATCAGAGAAGTTCCGGGCC -3'
(R):5'- TAATGAAGCTCTCCACCGAC -3'

Sequencing Primer
(F):5'- AGAAGTTCCGGGCCATGGC -3'
(R):5'- CCCCGCTCATAGAAGATTTTGAGG -3'
Posted On 2019-06-07