Incidental Mutation 'R4931:Spire2'
ID 380569
Institutional Source Beutler Lab
Gene Symbol Spire2
Ensembl Gene ENSMUSG00000010154
Gene Name spire type actin nucleation factor 2
Synonyms Spir-2
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R4931 (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 124095523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 542 (D542G)
Ref Sequence ENSEMBL: ENSMUSP00000148710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010298] [ENSMUST00000127664] [ENSMUST00000212404] [ENSMUST00000212470] [ENSMUST00000212571]
AlphaFold Q8K1S6
Predicted Effect possibly damaging
Transcript: ENSMUST00000010298
AA Change: D642G

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154
AA Change: D642G

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 possibly damaging
Transcript: ENSMUST00000212404
AA Change: D542G

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000212470
Predicted Effect probably benign
Transcript: ENSMUST00000212571
Meta Mutation Damage Score 0.0606 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R 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
R1917:Spire2 UTSW 8 124,089,810 (GRCm39) missense probably benign 0.00
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
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'- AAGAATATAGGGGCAGCCCTC -3'
(R):5'- CTTCCTCTGTGGGCATTGAG -3'

Sequencing Primer
(F):5'- TCTGAGCCTCTAGTCCCCAGG -3'
(R):5'- CTCTGTGGGCATTGAGGTCCC -3'
Posted On 2016-04-15