Incidental Mutation 'R4931:Spire2'
ID380569
Institutional Source Beutler Lab
Gene Symbol Spire2
Ensembl Gene ENSMUSG00000010154
Gene Namespire type actin nucleation factor 2
SynonymsSpir-2
MMRRC Submission 042532-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #R4931 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location123332713-123369515 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 123368784 bp
ZygosityHeterozygous
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]
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 0.128 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: 145,938,120 D21G probably benign Het
4930402H24Rik A G 2: 130,741,873 F496L possibly damaging Het
4930562C15Rik T C 16: 4,861,046 L68P possibly damaging Het
Ache A G 5: 137,291,914 I414V probably benign Het
Acy1 G A 9: 106,433,191 H308Y probably damaging Het
AF529169 T C 9: 89,601,652 H564R probably benign Het
Aldh1b1 A C 4: 45,803,661 I400L probably benign Het
Ankrd40 T A 11: 94,334,821 L226Q probably benign Het
B3gnt9 T C 8: 105,254,244 T171A probably benign Het
Ccdc33 T C 9: 58,069,851 Y289C probably damaging Het
Cd209f A T 8: 4,103,688 I187N probably damaging Het
Cers6 T G 2: 69,105,112 S319A probably damaging Het
Chrna4 A G 2: 181,028,872 S364P probably benign Het
Chrnb3 T C 8: 27,394,230 S317P probably damaging Het
Dapk1 T C 13: 60,760,960 V1129A probably benign Het
Dhx9 G A 1: 153,472,673 P302L probably benign Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Duox2 T C 2: 122,296,755 N147S probably benign Het
Dytn T G 1: 63,633,678 E522A probably benign Het
E130114P18Rik T C 4: 97,720,287 D27G unknown Het
Egf A G 3: 129,711,468 F118S probably damaging Het
Eif2d T A 1: 131,154,391 F73L probably damaging Het
Eps8l1 A G 7: 4,471,241 E237G possibly damaging Het
Espl1 A G 15: 102,305,730 E664G probably benign Het
Fbrsl1 A T 5: 110,379,029 S373T possibly damaging Het
Fras1 T A 5: 96,636,840 F894Y probably benign Het
Gm12800 T C 4: 101,909,170 V17A possibly damaging Het
Gpatch8 T C 11: 102,481,224 E496G unknown Het
Gucy1a2 A G 9: 3,759,588 K465E probably damaging Het
Igdcc4 A G 9: 65,124,015 T459A possibly damaging Het
Itgad A T 7: 128,204,625 I64F probably damaging Het
Itgb2l T A 16: 96,437,449 N50I probably damaging Het
Kif13a A G 13: 46,809,055 I478T probably damaging Het
Krt31 G A 11: 100,050,157 T109I probably benign Het
Ltbr G T 6: 125,307,474 probably null Het
Magel2 A G 7: 62,380,624 D1092G unknown Het
Mindy3 A T 2: 12,396,213 N231K probably damaging Het
Mpnd T G 17: 56,012,362 probably benign Het
Mtus2 C T 5: 148,077,416 L340F probably benign Het
Nanog G A 6: 122,707,906 A17T possibly damaging Het
Ndufa9 G T 6: 126,836,320 A181E probably damaging Het
Olfr619 T G 7: 103,604,374 L240R probably benign Het
Olfr869 A T 9: 20,137,562 I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,071,316 probably benign Het
Prkacb T C 3: 146,747,977 I211V possibly damaging Het
Ptpn14 C G 1: 189,851,277 L774V probably benign Het
Rad1 T C 15: 10,492,762 probably benign Het
Rims1 G T 1: 22,533,947 P391Q probably benign Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Sf3b3 C T 8: 110,816,329 R832Q probably benign Het
Slc12a2 A G 18: 57,934,963 D975G possibly damaging Het
Slitrk6 A G 14: 110,750,379 L632P probably damaging Het
Sppl3 A T 5: 115,082,314 Q95L probably damaging Het
Stat5b C A 11: 100,784,254 E710* probably null Het
Tcl1 G T 12: 105,222,613 H14N probably damaging Het
Ten1 T C 11: 116,205,729 F70L probably benign Het
Tnfrsf13b A T 11: 61,140,937 T35S possibly damaging Het
Tpcn2 G A 7: 145,267,309 P336L probably benign Het
Trf C A 9: 103,228,048 D22Y probably damaging Het
Ttyh1 A G 7: 4,133,944 probably benign Het
Vmn2r103 A T 17: 19,811,769 I602F probably benign Het
Zfp296 G T 7: 19,579,712 C164F possibly damaging Het
Zfp352 A G 4: 90,224,304 Y227C probably damaging Het
Zfp599 A T 9: 22,258,123 W18R probably damaging Het
Other mutations in Spire2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Spire2 APN 8 123354059 missense probably damaging 1.00
IGL01610:Spire2 APN 8 123356763 missense probably damaging 1.00
IGL01611:Spire2 APN 8 123359398 missense probably damaging 1.00
IGL01776:Spire2 APN 8 123359392 missense probably damaging 0.98
IGL02164:Spire2 APN 8 123332964 missense probably damaging 0.99
IGL03005:Spire2 APN 8 123363368 missense probably benign 0.16
R0127:Spire2 UTSW 8 123358097 splice site probably benign
R0194:Spire2 UTSW 8 123363011 splice site probably benign
R0571:Spire2 UTSW 8 123354116 missense probably damaging 1.00
R1386:Spire2 UTSW 8 123361366 critical splice donor site probably null
R1526:Spire2 UTSW 8 123368763 missense probably benign 0.08
R1538:Spire2 UTSW 8 123358156 missense probably damaging 1.00
R1917:Spire2 UTSW 8 123363071 missense probably benign 0.00
R1919:Spire2 UTSW 8 123363071 missense probably benign 0.00
R2018:Spire2 UTSW 8 123332918 missense probably damaging 1.00
R2019:Spire2 UTSW 8 123332918 missense probably damaging 1.00
R4524:Spire2 UTSW 8 123360235 missense probably benign
R4672:Spire2 UTSW 8 123358111 missense probably benign 0.06
R4973:Spire2 UTSW 8 123356844 missense probably damaging 1.00
R5057:Spire2 UTSW 8 123358201 missense probably damaging 1.00
R5702:Spire2 UTSW 8 123346663 missense probably benign 0.07
R5899:Spire2 UTSW 8 123354094 missense probably damaging 1.00
R6747:Spire2 UTSW 8 123356846 missense probably damaging 1.00
R6816:Spire2 UTSW 8 123359413 missense probably benign 0.12
R6823:Spire2 UTSW 8 123356727 missense probably damaging 1.00
R7146:Spire2 UTSW 8 123369250 missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AAGAATATAGGGGCAGCCCTC -3'
(R):5'- CTTCCTCTGTGGGCATTGAG -3'

Sequencing Primer
(F):5'- TCTGAGCCTCTAGTCCCCAGG -3'
(R):5'- CTCTGTGGGCATTGAGGTCCC -3'
Posted On2016-04-15