Incidental Mutation 'R0534:Sipa1l1'
ID 49381
Institutional Source Beutler Lab
Gene Symbol Sipa1l1
Ensembl Gene ENSMUSG00000042700
Gene Name signal-induced proliferation-associated 1 like 1
Synonyms Spar, 4931426N11Rik
MMRRC Submission 038726-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0534 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 82216138-82498560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82472054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1345 (S1345P)
Ref Sequence ENSEMBL: ENSMUSP00000152681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053969] [ENSMUST00000166429] [ENSMUST00000220963] [ENSMUST00000222298] [ENSMUST00000222714]
AlphaFold Q8C0T5
Predicted Effect probably benign
Transcript: ENSMUST00000053969
AA Change: S1345P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: S1345P

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: S1345P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: S1345P

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: S1345P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000221169
Predicted Effect probably benign
Transcript: ENSMUST00000222298
AA Change: S1345P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000222714
AA Change: S1345P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.1266 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,764,197 (GRCm39) M324V probably damaging Het
Cap1 C T 4: 122,756,512 (GRCm39) V340M probably benign Het
Ccdc110 T C 8: 46,388,175 (GRCm39) V44A possibly damaging Het
Cps1 A G 1: 67,183,059 (GRCm39) D139G probably benign Het
Cwc27 T A 13: 104,768,124 (GRCm39) E457V unknown Het
Cxxc1 C T 18: 74,351,962 (GRCm39) P280S probably benign Het
Dennd2b A T 7: 109,140,635 (GRCm39) V197D probably damaging Het
Dop1b T A 16: 93,559,393 (GRCm39) L595Q probably benign Het
Dscam G T 16: 96,453,372 (GRCm39) S1292R possibly damaging Het
E2f4 C A 8: 106,030,851 (GRCm39) F353L probably damaging Het
Ep300 A G 15: 81,485,097 (GRCm39) probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fign T A 2: 63,811,135 (GRCm39) H45L probably damaging Het
Flcn T A 11: 59,685,025 (GRCm39) probably benign Het
Gm5141 A T 13: 62,922,408 (GRCm39) F254I probably damaging Het
Gpbp1l1 T A 4: 116,448,465 (GRCm39) N402K probably damaging Het
Gpr37 A T 6: 25,669,823 (GRCm39) C340* probably null Het
Gtf3c2 A T 5: 31,315,476 (GRCm39) probably benign Het
Hcfc2 T A 10: 82,574,242 (GRCm39) F139I probably damaging Het
Hectd4 T C 5: 121,486,539 (GRCm39) L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 44,986,659 (GRCm39) probably benign Het
Igf2bp1 A G 11: 95,857,622 (GRCm39) probably benign Het
Igsf9b T G 9: 27,244,358 (GRCm39) probably null Het
Il23r G A 6: 67,403,572 (GRCm39) A443V probably benign Het
Kcnv1 A G 15: 44,972,645 (GRCm39) F413L probably damaging Het
Lipe C A 7: 25,087,611 (GRCm39) A150S possibly damaging Het
Lrrcc1 T C 3: 14,622,333 (GRCm39) S557P probably damaging Het
Mrpl54 C A 10: 81,102,687 (GRCm39) W13L probably damaging Het
Mtcl3 T A 10: 29,056,952 (GRCm39) probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Npy1r C A 8: 67,157,670 (GRCm39) Q327K probably damaging Het
Nt5el C A 13: 105,218,762 (GRCm39) S32* probably null Het
Or51b17 C T 7: 103,542,438 (GRCm39) R168H probably benign Het
Osbpl10 C T 9: 114,996,246 (GRCm39) L139F probably damaging Het
P2rx6 A C 16: 17,385,768 (GRCm39) T199P probably damaging Het
Phyhip A T 14: 70,699,199 (GRCm39) M1L possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Psmc1 T A 12: 100,086,389 (GRCm39) I342N possibly damaging Het
Reln A T 5: 22,152,406 (GRCm39) D2353E probably damaging Het
Rmdn3 T C 2: 118,976,851 (GRCm39) E294G probably benign Het
Scnn1g A G 7: 121,366,647 (GRCm39) M615V probably benign Het
Shcbp1l T A 1: 153,304,314 (GRCm39) D124E possibly damaging Het
Taf7l2 T C 10: 115,948,707 (GRCm39) E273G possibly damaging Het
Timp4 A G 6: 115,226,802 (GRCm39) Y114H probably damaging Het
Tlr9 T A 9: 106,102,086 (GRCm39) L459Q probably benign Het
Tmem104 C A 11: 115,091,654 (GRCm39) T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp622 A T 15: 25,984,654 (GRCm39) I7F 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
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'- TTGCAGTCTGACAGCCACTACTCC -3'
(R):5'- ATGCTGAAGGTGCTGTTCTCCCTG -3'

Sequencing Primer
(F):5'- TACGATGGGGACCGCAC -3'
(R):5'- GTGCTGTTCTCCCTGCTCAG -3'
Posted On 2013-06-12