Incidental Mutation 'R1917:Spire2'
ID 212613
Institutional Source Beutler Lab
Gene Symbol Spire2
Ensembl Gene ENSMUSG00000010154
Gene Name spire type actin nucleation factor 2
Synonyms Spir-2
MMRRC Submission 039935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R1917 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 124059452-124096254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124089810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 447 (D447G)
Ref Sequence ENSEMBL: ENSMUSP00000148710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010298] [ENSMUST00000127664] [ENSMUST00000212404]
AlphaFold Q8K1S6
Predicted Effect probably benign
Transcript: ENSMUST00000010298
AA Change: D547G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154
AA Change: D547G

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
KIND 26 207 2.63e-82 SMART
PDB:4EFH|B 310 360 8e-8 PDB
low complexity region 419 431 N/A INTRINSIC
low complexity region 496 513 N/A INTRINSIC
SCOP:d1zbdb_ 540 636 7e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212404
AA Change: D447G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0772 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.6%
Validation Efficiency 100% (83/83)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,982,341 (GRCm39) probably benign Het
Adgre5 A G 8: 84,455,738 (GRCm39) V190A probably damaging Het
Akap6 A G 12: 53,151,395 (GRCm39) N1153S probably benign Het
Aldh1a7 G A 19: 20,704,819 (GRCm39) H20Y probably benign Het
B430306N03Rik A G 17: 48,631,176 (GRCm39) E278G probably benign Het
Cacna1b C A 2: 24,506,891 (GRCm39) R72L probably null Het
Cc2d2a C G 5: 43,863,564 (GRCm39) S675R probably damaging Het
Ccdc88b T A 19: 6,826,594 (GRCm39) E1040D probably damaging Het
Cmtm7 A G 9: 114,592,432 (GRCm39) V55A probably damaging Het
Coq4 A C 2: 29,679,938 (GRCm39) T77P probably damaging Het
Cyp2j11 C A 4: 96,228,211 (GRCm39) W136L probably damaging Het
Dctn2 T A 10: 127,110,918 (GRCm39) Y86* probably null Het
Ddx56 A G 11: 6,213,937 (GRCm39) probably null Het
Dop1b T C 16: 93,513,150 (GRCm39) S30P probably damaging Het
Ep400 T C 5: 110,851,441 (GRCm39) K1347R unknown Het
Fat3 T A 9: 15,908,353 (GRCm39) T2550S possibly damaging Het
Fcrla G T 1: 170,755,095 (GRCm39) C5* probably null Het
Fem1al A G 11: 29,774,039 (GRCm39) S473P probably benign Het
Fermt1 T A 2: 132,764,762 (GRCm39) D365V probably damaging Het
Fhod3 A G 18: 25,123,022 (GRCm39) probably benign Het
Fhod3 A G 18: 25,218,658 (GRCm39) D807G probably benign Het
Fnip1 C T 11: 54,371,510 (GRCm39) T177I probably damaging Het
Gart T C 16: 91,425,037 (GRCm39) Y662C probably damaging Het
Gda A T 19: 21,375,004 (GRCm39) probably benign Het
Gk A G X: 84,804,186 (GRCm39) I85T probably damaging Het
Gm3476 A G 14: 6,118,358 (GRCm38) L255P possibly damaging Het
Gm9966 T C 7: 95,607,684 (GRCm39) C2R unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gtf2h4 G A 17: 35,981,090 (GRCm39) L246F possibly damaging Het
Hao1 A T 2: 134,364,980 (GRCm39) S216T probably benign Het
Hnrnpr C A 4: 136,059,799 (GRCm39) S301* probably null Het
Hsd3b2 A G 3: 98,619,342 (GRCm39) I201T probably benign Het
Jade2 T C 11: 51,709,365 (GRCm39) E548G possibly damaging Het
Katnbl1 T C 2: 112,239,524 (GRCm39) I241T probably benign Het
Keap1 G T 9: 21,145,102 (GRCm39) Q299K probably benign Het
Kif1a T C 1: 92,946,753 (GRCm39) I1650V possibly damaging Het
Lrba G A 3: 86,571,808 (GRCm39) G275R probably damaging Het
Map3k9 C A 12: 81,827,564 (GRCm39) E29* probably null Het
Mat1a G A 14: 40,843,394 (GRCm39) V307I probably damaging Het
Mcm2 A T 6: 88,868,785 (GRCm39) M324K possibly damaging Het
Metap1d T C 2: 71,341,871 (GRCm39) V155A probably damaging Het
Mtbp A G 15: 55,428,073 (GRCm39) probably benign Het
Myh14 T C 7: 44,307,349 (GRCm39) T231A probably benign Het
Mylk4 A T 13: 32,908,836 (GRCm39) D90E probably benign Het
Myo15b T A 11: 115,773,080 (GRCm39) I1837K possibly damaging Het
Myo3a T A 2: 22,296,733 (GRCm39) H242Q probably damaging Het
Nxn A G 11: 76,152,498 (GRCm39) probably benign Het
Or6c2 T A 10: 129,362,918 (GRCm39) V274D probably damaging Het
Pak3 C A X: 142,574,298 (GRCm39) A553E possibly damaging Het
Pdia2 T A 17: 26,417,079 (GRCm39) T122S possibly damaging Het
Pira12 C T 7: 3,900,637 (GRCm39) V38M probably damaging Het
Plod2 A G 9: 92,463,310 (GRCm39) T132A probably benign Het
Ptprz1 T A 6: 23,035,039 (GRCm39) probably benign Het
Rad54b A C 4: 11,601,693 (GRCm39) N416T probably damaging Het
Recql4 A T 15: 76,588,037 (GRCm39) Y1142* probably null Het
Rnf216 A G 5: 142,978,561 (GRCm39) V859A probably benign Het
Scnm1 G T 3: 95,037,584 (GRCm39) P161T possibly damaging Het
Serpinb6b A G 13: 33,162,223 (GRCm39) I222V probably benign Het
Serpinf1 A G 11: 75,301,833 (GRCm39) I274T possibly damaging Het
Slc28a1 T C 7: 80,819,334 (GRCm39) F641L probably benign Het
Slc8a2 A G 7: 15,886,845 (GRCm39) I657V probably benign Het
Smchd1 A G 17: 71,714,232 (GRCm39) I877T possibly damaging Het
Spata31 T C 13: 65,068,679 (GRCm39) Y276H possibly damaging Het
Stk3 G A 15: 35,073,363 (GRCm39) T119I probably damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Sult2a5 T C 7: 13,404,609 (GRCm39) F282S probably damaging Het
Syk A T 13: 52,776,744 (GRCm39) D248V probably damaging Het
Thoc6 C T 17: 23,888,364 (GRCm39) probably benign Het
Timd5 A G 11: 46,419,358 (GRCm39) D58G possibly damaging Het
Tll2 T A 19: 41,116,936 (GRCm39) D293V possibly damaging Het
Umodl1 G A 17: 31,203,017 (GRCm39) V457M probably damaging Het
Usp19 T A 9: 108,376,524 (GRCm39) C689* probably null Het
Usp24 T G 4: 106,267,483 (GRCm39) V1955G probably damaging Het
Vmn1r226 T C 17: 20,907,842 (GRCm39) S25P probably damaging Het
Vmn2r69 C T 7: 85,060,891 (GRCm39) C231Y probably damaging Het
Wdr73 C T 7: 80,543,081 (GRCm39) D176N probably benign Het
Wnt7b T A 15: 85,443,281 (GRCm39) I41F probably damaging Het
Zfhx3 T C 8: 109,682,880 (GRCm39) S3440P unknown Het
Zfp52 T G 17: 21,780,426 (GRCm39) N91K probably benign Het
Zfp930 C A 8: 69,681,357 (GRCm39) Q350K probably benign Het
Zfp949 T C 9: 88,452,115 (GRCm39) S562P probably damaging Het
Other mutations in Spire2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Spire2 APN 8 124,080,798 (GRCm39) missense probably damaging 1.00
IGL01610:Spire2 APN 8 124,083,502 (GRCm39) missense probably damaging 1.00
IGL01611:Spire2 APN 8 124,086,137 (GRCm39) missense probably damaging 1.00
IGL01776:Spire2 APN 8 124,086,131 (GRCm39) missense probably damaging 0.98
IGL02164:Spire2 APN 8 124,059,703 (GRCm39) missense probably damaging 0.99
IGL03005:Spire2 APN 8 124,090,107 (GRCm39) missense probably benign 0.16
R0127:Spire2 UTSW 8 124,084,836 (GRCm39) splice site probably benign
R0194:Spire2 UTSW 8 124,089,750 (GRCm39) splice site probably benign
R0571:Spire2 UTSW 8 124,080,855 (GRCm39) missense probably damaging 1.00
R1386:Spire2 UTSW 8 124,088,105 (GRCm39) critical splice donor site probably null
R1526:Spire2 UTSW 8 124,095,502 (GRCm39) missense probably benign 0.08
R1538:Spire2 UTSW 8 124,084,895 (GRCm39) missense probably damaging 1.00
R1919:Spire2 UTSW 8 124,089,810 (GRCm39) missense probably benign 0.00
R2018:Spire2 UTSW 8 124,059,657 (GRCm39) missense probably damaging 1.00
R2019:Spire2 UTSW 8 124,059,657 (GRCm39) missense probably damaging 1.00
R4524:Spire2 UTSW 8 124,086,974 (GRCm39) missense probably benign
R4672:Spire2 UTSW 8 124,084,850 (GRCm39) missense probably benign 0.06
R4931:Spire2 UTSW 8 124,095,523 (GRCm39) missense possibly damaging 0.54
R4973:Spire2 UTSW 8 124,083,583 (GRCm39) missense probably damaging 1.00
R5057:Spire2 UTSW 8 124,084,940 (GRCm39) missense probably damaging 1.00
R5702:Spire2 UTSW 8 124,073,402 (GRCm39) missense probably benign 0.07
R5899:Spire2 UTSW 8 124,080,833 (GRCm39) missense probably damaging 1.00
R6747:Spire2 UTSW 8 124,083,585 (GRCm39) missense probably damaging 1.00
R6816:Spire2 UTSW 8 124,086,152 (GRCm39) missense probably benign 0.12
R6823:Spire2 UTSW 8 124,083,466 (GRCm39) missense probably damaging 1.00
R7146:Spire2 UTSW 8 124,095,989 (GRCm39) missense probably benign 0.08
R7851:Spire2 UTSW 8 124,083,438 (GRCm39) splice site probably null
R7903:Spire2 UTSW 8 124,095,489 (GRCm39) missense probably benign
R7923:Spire2 UTSW 8 124,059,726 (GRCm39) missense probably benign 0.00
R8181:Spire2 UTSW 8 124,088,042 (GRCm39) missense probably damaging 0.99
R8673:Spire2 UTSW 8 124,086,867 (GRCm39) missense probably damaging 1.00
R9057:Spire2 UTSW 8 124,095,547 (GRCm39) unclassified probably benign
R9404:Spire2 UTSW 8 124,090,077 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGAGAACCTTATGCAGTAGC -3'
(R):5'- GTCCCAACATGTAACTGCCTTG -3'

Sequencing Primer
(F):5'- AGTAGCAGGGCCTCCTTGAG -3'
(R):5'- CAACATGTAACTGCCTTGGGGTTTC -3'
Posted On 2014-07-14