Incidental Mutation 'R7718:Sipa1l1'
ID 595060
Institutional Source Beutler Lab
Gene Symbol Sipa1l1
Ensembl Gene ENSMUSG00000042700
Gene Name signal-induced proliferation-associated 1 like 1
Synonyms Spar, 4931426N11Rik
MMRRC Submission 045775-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7718 (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 T at 82389271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 499 (K499M)
Ref Sequence ENSEMBL: ENSMUSP00000131030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053969] [ENSMUST00000166429] [ENSMUST00000220963] [ENSMUST00000222298] [ENSMUST00000222714]
AlphaFold Q8C0T5
Predicted Effect probably damaging
Transcript: ENSMUST00000053969
AA Change: K499M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: K499M

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: K499M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: K499M

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: K499M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222298
AA Change: K499M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000222714
AA Change: K499M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3540 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A T 5: 138,646,122 (GRCm39) H669L possibly damaging Het
Abcb1a A T 5: 8,765,788 (GRCm39) N700I probably damaging Het
Abcc6 T C 7: 45,626,816 (GRCm39) K1414E possibly damaging Het
Adcy5 T C 16: 35,100,785 (GRCm39) V779A probably benign Het
Agap2 A G 10: 126,915,734 (GRCm39) S82G possibly damaging Het
Aldh1l1 A G 6: 90,575,305 (GRCm39) N864S probably damaging Het
Ang2 A T 14: 51,433,217 (GRCm39) V55E probably benign Het
Ank2 A G 3: 126,758,662 (GRCm39) M179T possibly damaging Het
Atrnl1 T A 19: 57,728,615 (GRCm39) C1090* probably null Het
Atxn1l A G 8: 110,459,866 (GRCm39) L132P probably damaging Het
Bptf A G 11: 106,972,282 (GRCm39) V862A possibly damaging Het
Capn11 C A 17: 45,954,707 (GRCm39) K143N probably damaging Het
Card6 A G 15: 5,129,269 (GRCm39) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm39) A143V probably benign Het
Cntn5 A G 9: 9,984,133 (GRCm39) I160T probably benign Het
Cyp2c40 T A 19: 39,755,782 (GRCm39) N511Y probably benign Het
Dsc2 A T 18: 20,174,835 (GRCm39) I480N probably damaging Het
Elf2 G T 3: 51,173,385 (GRCm39) probably benign Het
Enoph1 T C 5: 100,210,019 (GRCm39) V133A possibly damaging Het
Ezh2 A T 6: 47,531,125 (GRCm39) D186E probably benign Het
Fcgbpl1 T C 7: 27,846,626 (GRCm39) F1106S probably damaging Het
Gfra1 T C 19: 58,441,889 (GRCm39) D14G possibly damaging Het
Gmip C T 8: 70,270,383 (GRCm39) R698W probably damaging Het
Grk4 A G 5: 34,852,160 (GRCm39) N135D probably benign Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Htatip2 T G 7: 49,420,632 (GRCm39) H159Q possibly damaging Het
Igfn1 T C 1: 135,896,774 (GRCm39) E1264G probably benign Het
Insyn2b T C 11: 34,352,539 (GRCm39) S194P probably benign Het
Katnb1 T A 8: 95,821,836 (GRCm39) V223E possibly damaging Het
Klra6 AGG AG 6: 129,990,315 (GRCm39) probably null Het
Masp2 C T 4: 148,687,204 (GRCm39) R29C probably damaging Het
Mcm3 A T 1: 20,887,498 (GRCm39) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm39) V2225A probably damaging Het
Me1 A G 9: 86,561,953 (GRCm39) L44S probably damaging Het
Mlxip A G 5: 123,583,577 (GRCm39) N380S probably benign Het
Muc21 T C 17: 35,933,728 (GRCm39) T153A unknown Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Myocd A T 11: 65,109,452 (GRCm39) D106E probably damaging Het
Oat T C 7: 132,159,988 (GRCm39) I411V probably benign Het
Or2d2 A T 7: 106,727,925 (GRCm39) V225D probably damaging Het
Or5p59 T C 7: 107,702,855 (GRCm39) V113A probably benign Het
Or8k38 A G 2: 86,488,373 (GRCm39) V143A probably benign Het
Orc2 A T 1: 58,519,476 (GRCm39) H246Q possibly damaging Het
Pank4 A G 4: 155,059,100 (GRCm39) E411G probably damaging Het
Patl2 A T 2: 121,957,255 (GRCm39) probably null Het
Pcdhb15 A G 18: 37,608,216 (GRCm39) N483D probably damaging Het
Pcdhb20 A G 18: 37,638,704 (GRCm39) D410G probably damaging Het
Pdcl2 A G 5: 76,465,846 (GRCm39) C125R probably damaging Het
Peli3 C G 19: 4,984,584 (GRCm39) probably null Het
Pkd1 A G 17: 24,805,474 (GRCm39) D3313G probably benign Het
Plec A C 15: 76,061,639 (GRCm39) M2766R probably damaging Het
Ppargc1a C T 5: 51,655,504 (GRCm39) V99M probably damaging Het
Prr35 T A 17: 26,165,998 (GRCm39) R430* probably null Het
Psg19 G A 7: 18,526,368 (GRCm39) A374V probably benign Het
Psmd7 A T 8: 108,313,261 (GRCm39) F54L possibly damaging Het
Ptbp2 C T 3: 119,514,637 (GRCm39) G397R probably null Het
Ranbp3 A G 17: 57,003,718 (GRCm39) D39G probably damaging Het
Rcor3 T C 1: 191,786,021 (GRCm39) T406A probably benign Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Rpia A T 6: 70,743,602 (GRCm39) M283K probably damaging Het
Rps6kc1 T C 1: 190,604,022 (GRCm39) D200G probably benign Het
Slc5a4b A G 10: 75,906,407 (GRCm39) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spmip4 G A 6: 50,566,078 (GRCm39) probably null Het
St7 A C 6: 17,854,998 (GRCm39) T312P probably damaging Het
Strbp T C 2: 37,515,294 (GRCm39) E244G probably damaging Het
Tbc1d8 T G 1: 39,416,061 (GRCm39) T871P probably benign Het
Tcp1 T A 17: 13,141,049 (GRCm39) I286N probably damaging Het
Tead3 C A 17: 28,552,491 (GRCm39) V327F probably damaging Het
Tmem132c A T 5: 127,640,504 (GRCm39) T892S probably benign Het
Trmt2a T C 16: 18,068,487 (GRCm39) S65P probably benign Het
Ubp1 A G 9: 113,802,597 (GRCm39) N479S possibly damaging Het
Ubtfl1 A T 9: 18,320,527 (GRCm39) L18F possibly damaging Het
Uevld T G 7: 46,587,804 (GRCm39) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm39) Y1561N unknown Het
Ylpm1 A G 12: 85,075,896 (GRCm39) K874E probably damaging Het
Zbtb37 G A 1: 160,859,802 (GRCm39) R168W 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
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'- AGAGCACATCCTTTGAGTCTGC -3'
(R):5'- TGCCCCTAAAGATGACATAGC -3'

Sequencing Primer
(F):5'- ACATCCTTTGAGTCTGCCCTCAG -3'
(R):5'- TGCCCCTAAAGATGACATAGCAAGTC -3'
Posted On 2019-11-12