Incidental Mutation 'R8826:Sipa1l1'
ID 673482
Institutional Source Beutler Lab
Gene Symbol Sipa1l1
Ensembl Gene ENSMUSG00000042700
Gene Name signal-induced proliferation-associated 1 like 1
Synonyms Spar, 4931426N11Rik
MMRRC Submission 068729-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8826 (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 82389207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 478 (K478E)
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: K478E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: K478E

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: K478E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: K478E

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: K478E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000222298
AA Change: K478E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222714
AA Change: K478E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (91/91)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta1 T C 8: 124,619,978 (GRCm39) M121V probably damaging Het
AI987944 A T 7: 41,024,627 (GRCm39) H120Q possibly damaging Het
Aldh9a1 C G 1: 167,184,119 (GRCm39) P205A probably damaging Het
Ank2 A T 3: 126,740,951 (GRCm39) N1644K unknown Het
Arfgef2 A T 2: 166,677,386 (GRCm39) probably benign Het
Bpifb4 G T 2: 153,783,817 (GRCm39) V54L probably benign Het
Cacna1c T A 6: 118,711,836 (GRCm39) M456L Het
Cbln1 T C 8: 88,198,420 (GRCm39) N95S probably benign Het
Ccl11 G T 11: 81,953,044 (GRCm39) R67S possibly damaging Het
Cd200 G A 16: 45,215,157 (GRCm39) R165C probably benign Het
Cd2bp2 A T 7: 126,793,257 (GRCm39) M283K probably damaging Het
Cd86 G T 16: 36,435,650 (GRCm39) L256I possibly damaging Het
Ces2f T A 8: 105,679,734 (GRCm39) F409Y probably benign Het
Cisd3 A T 11: 97,579,158 (GRCm39) Q100L probably damaging Het
Cntnap1 C T 11: 101,077,655 (GRCm39) R1106C probably damaging Het
Col6a2 A T 10: 76,439,433 (GRCm39) M777K probably damaging Het
Cp A G 3: 20,039,739 (GRCm39) Y852C probably damaging Het
Ddx1 T C 12: 13,277,332 (GRCm39) E523G probably damaging Het
Ddx60 T A 8: 62,398,990 (GRCm39) D236E probably benign Het
Dnah9 A T 11: 65,740,742 (GRCm39) F4148Y probably benign Het
Dusp6 G T 10: 99,099,469 (GRCm39) probably benign Het
Eif2a C A 3: 58,456,049 (GRCm39) Y349* probably null Het
Enpep G A 3: 129,065,067 (GRCm39) T874I probably damaging Het
Eps15 A G 4: 109,169,505 (GRCm39) D105G possibly damaging Het
Ess2 A T 16: 17,722,954 (GRCm39) M320K probably damaging Het
Exosc10 G A 4: 148,653,159 (GRCm39) probably null Het
Fam13b A T 18: 34,631,070 (GRCm39) N36K probably damaging Het
Fanca T C 8: 123,995,209 (GRCm39) D1431G probably benign Het
Fgg A G 3: 82,921,625 (GRCm39) D436G probably benign Het
Fip1l1 C T 5: 74,725,188 (GRCm39) T251I probably benign Het
Galnt2 A G 8: 125,032,347 (GRCm39) N104S probably damaging Het
Gmip T C 8: 70,268,748 (GRCm39) S458P possibly damaging Het
Herc2 A G 7: 55,756,144 (GRCm39) D728G probably benign Het
Hif3a A G 7: 16,788,671 (GRCm39) L100P probably damaging Het
Hmox2 C G 16: 4,583,866 (GRCm39) P282R possibly damaging Het
Hook1 A T 4: 95,880,432 (GRCm39) H90L probably benign Het
Igf2bp2 C A 16: 21,883,866 (GRCm39) G473C probably damaging Het
Ip6k2 T C 9: 108,675,379 (GRCm39) probably null Het
Ipo5 G T 14: 121,157,366 (GRCm39) R68L probably damaging Het
Kif19b A G 5: 140,455,434 (GRCm39) M347V probably damaging Het
Klhdc1 G T 12: 69,305,392 (GRCm39) W234L probably damaging Het
Krt8 A G 15: 101,909,870 (GRCm39) V178A possibly damaging Het
Lgi3 T A 14: 70,768,712 (GRCm39) probably null Het
Litaf T G 16: 10,784,421 (GRCm39) N30H probably benign Het
Lman2 C A 13: 55,510,368 (GRCm39) W12L unknown Het
Macf1 A G 4: 123,276,022 (GRCm39) L6182P probably damaging Het
Magi3 A T 3: 103,992,662 (GRCm39) M270K probably benign Het
Mapre2 A T 18: 23,886,888 (GRCm39) probably benign Het
Minar1 T A 9: 89,483,234 (GRCm39) E721V probably damaging Het
Mllt10 T A 2: 18,167,353 (GRCm39) V426D probably benign Het
Mrgprf A G 7: 144,862,046 (GRCm39) I203V probably benign Het
Mrnip G A 11: 50,067,688 (GRCm39) C27Y probably damaging Het
Mrpl24 C T 3: 87,829,701 (GRCm39) R96* probably null Het
Nbas T A 12: 13,402,875 (GRCm39) probably benign Het
Nipal4 G A 11: 46,045,470 (GRCm39) T131M possibly damaging Het
Nlrp12 T C 7: 3,289,621 (GRCm39) D297G possibly damaging Het
Nol6 A C 4: 41,121,823 (GRCm39) M237R probably benign Het
Olig1 A G 16: 91,067,027 (GRCm39) E88G probably benign Het
Or1j19 T A 2: 36,676,855 (GRCm39) L106* probably null Het
Parg A G 14: 31,931,175 (GRCm39) D265G possibly damaging Het
Pcdhgb8 A T 18: 37,895,301 (GRCm39) I124L probably damaging Het
Pign A G 1: 105,481,827 (GRCm39) F822L probably damaging Het
Plch2 T C 4: 155,071,140 (GRCm39) T1080A probably benign Het
Pld4 A T 12: 112,733,210 (GRCm39) Y262F possibly damaging Het
Ppp1r12b A G 1: 134,693,730 (GRCm39) V977A probably benign Het
Ppp6r3 C T 19: 3,521,984 (GRCm39) E565K Het
Psmg2 A G 18: 67,787,158 (GRCm39) probably benign Het
Ptcd3 C T 6: 71,885,645 (GRCm39) G27D probably benign Het
Retreg2 G T 1: 75,119,525 (GRCm39) G7C unknown Het
Rlbp1 A T 7: 79,027,114 (GRCm39) F182Y probably benign Het
Rnf148 G C 6: 23,654,378 (GRCm39) S206C probably benign Het
Sash1 A G 10: 8,637,869 (GRCm39) M1T probably null Het
Shank3 A T 15: 89,433,598 (GRCm39) T1448S probably damaging Het
Slitrk6 A G 14: 110,988,801 (GRCm39) I302T probably benign Het
Smc1b A G 15: 84,950,529 (GRCm39) V1165A probably damaging Het
Sncaip A T 18: 53,048,381 (GRCm39) H939L probably benign Het
Stn1 T C 19: 47,524,709 (GRCm39) D27G probably damaging Het
Sugct T G 13: 17,427,180 (GRCm39) probably null Het
Tmem259 A G 10: 79,814,983 (GRCm39) S214P probably damaging Het
Trdv4 G A 14: 54,312,946 (GRCm39) G107S probably damaging Het
Ttc3 C T 16: 94,232,829 (GRCm39) L957F possibly damaging Het
Ttn A G 2: 76,711,471 (GRCm39) Y8357H unknown Het
Twnk T C 19: 44,996,434 (GRCm39) V289A probably benign Het
Umodl1 A G 17: 31,202,958 (GRCm39) D437G possibly damaging Het
Upf1 T C 8: 70,790,930 (GRCm39) T590A probably benign Het
Vmn2r63 A T 7: 42,576,441 (GRCm39) D457E probably benign Het
Wdr82 A T 9: 106,061,975 (GRCm39) T213S probably benign Het
Zfp267 T C 3: 36,218,255 (GRCm39) Y93H possibly damaging Het
Zfp672 A T 11: 58,220,590 (GRCm39) M3K unknown Het
Zfyve26 A G 12: 79,285,742 (GRCm39) V2345A 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
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
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'- ACAAGAGCAATGAACTCGTCATG -3'
(R):5'- ATTCACAGGCATCTCAGGTCAC -3'

Sequencing Primer
(F):5'- GCAATGAACTCGTCATGAGCTGTC -3'
(R):5'- TCTCAGGTCACCGCTAAAAC -3'
Posted On 2021-07-15