Incidental Mutation 'R9631:Sipa1l1'
ID 725520
Institutional Source Beutler Lab
Gene Symbol Sipa1l1
Ensembl Gene ENSMUSG00000042700
Gene Name signal-induced proliferation-associated 1 like 1
Synonyms Spar, 4931426N11Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9631 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 82216138-82498560 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 82387776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000131030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053969] [ENSMUST00000166429] [ENSMUST00000220963] [ENSMUST00000222298] [ENSMUST00000222714]
AlphaFold Q8C0T5
Predicted Effect probably null
Transcript: ENSMUST00000053969
AA Change: M1V

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: M1V

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 null
Transcript: ENSMUST00000166429
AA Change: M1V

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: M1V

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 null
Transcript: ENSMUST00000220963
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably null
Transcript: ENSMUST00000222298
AA Change: M1V

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably null
Transcript: ENSMUST00000222714
AA Change: M1V

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atl3 A G 19: 7,509,553 (GRCm39) N427S probably benign Het
Bcar3 T A 3: 122,301,801 (GRCm39) D165E possibly damaging Het
Brap T C 5: 121,822,435 (GRCm39) I437T probably benign Het
Bspry T C 4: 62,400,955 (GRCm39) probably null Het
Camkv G T 9: 107,822,990 (GRCm39) V77L probably benign Het
Capn15 A T 17: 26,182,409 (GRCm39) D566E probably damaging Het
Ccar2 A G 14: 70,389,344 (GRCm39) V76A probably damaging Het
Ccdc142 T C 6: 83,084,142 (GRCm39) C516R probably benign Het
Ccdc92b T A 11: 74,520,845 (GRCm39) V49E Het
Ccr7 A G 11: 99,036,616 (GRCm39) V102A probably benign Het
Cdh23 A T 10: 60,243,168 (GRCm39) V1069E possibly damaging Het
Cimip2c A G 5: 30,639,529 (GRCm39) D152G Het
Clpb T G 7: 101,434,605 (GRCm39) V467G possibly damaging Het
Crebzf T A 7: 90,093,013 (GRCm39) L264Q probably damaging Het
Ctif A G 18: 75,605,025 (GRCm39) F505L probably benign Het
Cyp2j5 A G 4: 96,529,522 (GRCm39) I283T probably benign Het
Ddx39a C A 8: 84,447,729 (GRCm39) H191Q possibly damaging Het
Dnajc9 A T 14: 20,438,670 (GRCm39) probably null Het
Dock7 A G 4: 98,854,560 (GRCm39) L1568P unknown Het
Dpp10 T C 1: 123,269,432 (GRCm39) Y659C probably damaging Het
Eef1akmt3 A G 10: 126,877,161 (GRCm39) F35L probably benign Het
Etl4 A T 2: 20,666,749 (GRCm39) N52I probably benign Het
F5 T A 1: 164,014,423 (GRCm39) C565S probably damaging Het
Fam170b T C 14: 32,557,641 (GRCm39) S159P probably damaging Het
Fitm2 A G 2: 163,311,757 (GRCm39) I152T probably damaging Het
Fn1 T C 1: 71,625,387 (GRCm39) D2473G probably benign Het
Fzd2 C A 11: 102,496,916 (GRCm39) D453E probably benign Het
Grm5 T C 7: 87,624,560 (GRCm39) Y376H probably damaging Het
H2-Q6 T A 17: 35,644,292 (GRCm39) H91Q probably benign Het
Hspa4 A T 11: 53,160,582 (GRCm39) V498E possibly damaging Het
Igsf10 A T 3: 59,237,904 (GRCm39) L759H probably damaging Het
Jph1 T C 1: 17,161,607 (GRCm39) T352A probably damaging Het
Kit C T 5: 75,767,689 (GRCm39) T24M possibly damaging Het
Krtap28-13 T G 1: 83,038,897 (GRCm39) C61G unknown Het
Lgr5 T A 10: 115,302,513 (GRCm39) I293F probably damaging Het
Lyzl4 GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAAGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG 9: 121,413,055 (GRCm39) probably null Het
Mccc1 C A 3: 36,014,185 (GRCm39) E711* probably null Het
Mroh2b C T 15: 4,946,556 (GRCm39) T452I probably damaging Het
Ms4a10 G A 19: 10,944,451 (GRCm39) T111I probably damaging Het
Myh11 A T 16: 14,025,441 (GRCm39) V1443E Het
Oc90 A G 15: 65,769,629 (GRCm39) L76P probably damaging Het
Or10d3 G A 9: 39,461,508 (GRCm39) R220* probably null Het
Or4c118 T C 2: 88,975,522 (GRCm39) probably benign Het
Or4f57 A G 2: 111,791,377 (GRCm39) F14L probably benign Het
Or56a42-ps1 A T 7: 104,775,607 (GRCm39) I290N probably damaging Het
Or5b97 A G 19: 12,878,502 (GRCm39) V214A possibly damaging Het
Or8b57 A G 9: 40,004,223 (GRCm39) V13A probably damaging Het
Or8c10 G A 9: 38,279,714 (GRCm39) V281M possibly damaging Het
Or8g52 A T 9: 39,631,161 (GRCm39) T213S possibly damaging Het
Pgr C A 9: 8,900,847 (GRCm39) Q127K probably benign Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Rfc1 C T 5: 65,429,851 (GRCm39) V852M probably damaging Het
Rin2 T A 2: 145,718,437 (GRCm39) L639H probably damaging Het
Rpap2 T A 5: 107,768,292 (GRCm39) W377R probably damaging Het
Senp7 T C 16: 55,975,631 (GRCm39) S446P probably benign Het
Slc25a36 A C 9: 96,982,153 (GRCm39) S61A probably benign Het
Sptbn2 C T 19: 4,788,218 (GRCm39) R1066W probably damaging Het
Tgm6 A G 2: 129,977,810 (GRCm39) S50G probably benign Het
Thada T C 17: 84,538,584 (GRCm39) S1475G probably benign Het
Tln1 G A 4: 43,545,694 (GRCm39) A928V probably damaging Het
Trip11 G A 12: 101,859,807 (GRCm39) L357F probably benign Het
Ttc3 G T 16: 94,171,581 (GRCm39) probably benign Het
Ttc38 T C 15: 85,728,659 (GRCm39) S204P possibly damaging Het
Vmn1r237 A T 17: 21,534,660 (GRCm39) I128F probably benign Het
Vmn2r50 A T 7: 9,786,990 (GRCm39) L39* probably null Het
Vps4b A G 1: 106,707,835 (GRCm39) V216A possibly damaging Het
Zfp217 T C 2: 169,956,790 (GRCm39) N736S possibly damaging Het
Zfp985 A G 4: 147,665,742 (GRCm39) E25G probably damaging Het
Zfr C T 15: 12,154,628 (GRCm39) R604* probably null Het
Zscan18 A G 7: 12,505,657 (GRCm39) S577P possibly 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
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
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'- CTCTGTCGTCTGCAAACAAGG -3'
(R):5'- GGCCAATCTGCTATTCTTGC -3'

Sequencing Primer
(F):5'- GTCTGCAAACAAGGCATCATTTAAC -3'
(R):5'- TGAGGGCCTTCACTTCGAG -3'
Posted On 2022-09-12