Incidental Mutation 'R7388:Spire1'
ID 573287
Institutional Source Beutler Lab
Gene Symbol Spire1
Ensembl Gene ENSMUSG00000024533
Gene Name spire type actin nucleation factor 1
Synonyms 6030430B19Rik, Spir-1
MMRRC Submission 045470-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.281) question?
Stock # R7388 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 67488209-67610790 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67519880 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 170 (D170G)
Ref Sequence ENSEMBL: ENSMUSP00000110702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045105] [ENSMUST00000082243] [ENSMUST00000115050] [ENSMUST00000224799]
AlphaFold Q52KF3
Predicted Effect probably damaging
Transcript: ENSMUST00000045105
AA Change: D170G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533
AA Change: D170G

DomainStartEndE-ValueType
Pfam:KIND 1 78 3.3e-27 PFAM
PDB:4EFH|B 176 232 9e-6 PDB
low complexity region 289 316 N/A INTRINSIC
low complexity region 339 350 N/A INTRINSIC
SCOP:d1zbdb_ 445 518 1e-7 SMART
low complexity region 596 606 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000082243
AA Change: D170G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080871
Gene: ENSMUSG00000024533
AA Change: D170G

DomainStartEndE-ValueType
Blast:KIND 1 73 2e-26 BLAST
PDB:3RBW|D 1 79 3e-28 PDB
PDB:4EFH|B 176 232 9e-6 PDB
low complexity region 302 329 N/A INTRINSIC
low complexity region 352 363 N/A INTRINSIC
SCOP:d1zbdb_ 400 473 2e-7 SMART
low complexity region 551 561 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115050
AA Change: D170G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533
AA Change: D170G

DomainStartEndE-ValueType
PDB:4EFH|B 106 162 9e-6 PDB
low complexity region 219 246 N/A INTRINSIC
low complexity region 269 280 N/A INTRINSIC
SCOP:d1zbdb_ 317 390 4e-7 SMART
low complexity region 468 478 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000224799
AA Change: D100G

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal brain anatomy and intact visual and motor functions in both sexes, but show a male-specific increase in contextual and cued fear memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 T C 18: 67,422,953 (GRCm38) E436G probably damaging Het
Agbl5 T A 5: 30,903,239 (GRCm38) L759* probably null Het
Ankrd13b T C 11: 77,472,757 (GRCm38) D460G probably benign Het
Apol10a A G 15: 77,489,025 (GRCm38) D287G possibly damaging Het
Arhgap44 A T 11: 65,024,268 (GRCm38) Y391* probably null Het
Asz1 G T 6: 18,074,901 (GRCm38) S271R probably benign Het
AW554918 A G 18: 25,340,113 (GRCm38) N325D probably benign Het
Brinp2 A T 1: 158,255,009 (GRCm38) L247Q probably damaging Het
Casz1 A G 4: 148,952,393 (GRCm38) D1704G unknown Het
Cdk5rap1 G A 2: 154,360,675 (GRCm38) R212W probably damaging Het
Cdkl2 T A 5: 92,019,459 (GRCm38) T444S probably benign Het
Cers2 T G 3: 95,321,345 (GRCm38) F160V probably benign Het
Cfap276 T C 3: 108,543,499 (GRCm38) F86L possibly damaging Het
Cga T A 4: 34,907,076 (GRCm38) M99K probably benign Het
Cspp1 C T 1: 10,065,347 (GRCm38) R138* probably null Het
Dao T G 5: 114,015,212 (GRCm38) *133E probably null Het
Ddx1 A T 12: 13,225,455 (GRCm38) C544S probably null Het
Dgkq A T 5: 108,658,246 (GRCm38) V98E probably damaging Het
Dnah6 T A 6: 73,192,317 (GRCm38) T434S possibly damaging Het
Dntt A G 19: 41,038,979 (GRCm38) N162D probably benign Het
Dpysl5 T C 5: 30,745,461 (GRCm38) V79A probably benign Het
E130309D02Rik G A 5: 143,311,845 (GRCm38) A149V probably benign Het
Ep300 T C 15: 81,648,366 (GRCm38) C1602R unknown Het
Flrt3 C T 2: 140,661,752 (GRCm38) probably null Het
Gk2 A G 5: 97,456,898 (GRCm38) V27A probably damaging Het
Gm11639 T C 11: 104,721,045 (GRCm38) L571P probably damaging Het
Gnpat T G 8: 124,887,814 (GRCm38) M663R probably benign Het
Hc A T 2: 34,984,847 (GRCm38) probably null Het
Il12rb1 A G 8: 70,810,627 (GRCm38) Y67C probably damaging Het
Kmt2b C T 7: 30,581,960 (GRCm38) D1229N probably damaging Het
Lamc1 T C 1: 153,249,076 (GRCm38) T650A probably damaging Het
Lrp1 G A 10: 127,583,897 (GRCm38) R948* probably null Het
Map3k21 T C 8: 125,927,597 (GRCm38) I385T probably damaging Het
Mmrn1 T A 6: 60,976,252 (GRCm38) S506T probably benign Het
Nlrp1a A G 11: 71,123,197 (GRCm38) F409S probably damaging Het
Nlrp3 T A 11: 59,565,066 (GRCm38) I896N probably benign Het
Noxred1 C A 12: 87,227,025 (GRCm38) V81L probably damaging Het
Nrcam A T 12: 44,598,489 (GRCm38) I1225F probably damaging Het
Or2z2 C T 11: 58,455,655 (GRCm38) C98Y probably damaging Het
Otos T A 1: 92,644,519 (GRCm38) probably null Het
Pcdh20 A G 14: 88,468,667 (GRCm38) I399T probably benign Het
Pkhd1 C T 1: 20,239,304 (GRCm38) V2807I not run Het
Prrx2 A G 2: 30,880,890 (GRCm38) E235G probably damaging Het
Rab13 T C 3: 90,221,020 (GRCm38) I41T probably damaging Het
Rai1 A C 11: 60,189,375 (GRCm38) T1422P possibly damaging Het
Rcn1 C T 2: 105,391,991 (GRCm38) V217M probably damaging Het
Scn2a T A 2: 65,688,654 (GRCm38) V408E probably damaging Het
Sec16a C T 2: 26,428,364 (GRCm38) A121T Het
Slc35d1 A G 4: 103,189,785 (GRCm38) probably null Het
Slc39a6 A T 18: 24,584,049 (GRCm38) V642E probably damaging Het
Slc6a19 G A 13: 73,693,084 (GRCm38) A69V probably benign Het
Spink6 A T 18: 44,082,319 (GRCm38) T79S probably damaging Het
Sugp1 T C 8: 70,052,619 (GRCm38) S79P probably damaging Het
Syne3 A G 12: 104,967,908 (GRCm38) Y201H probably damaging Het
Tbc1d10a T C 11: 4,205,858 (GRCm38) probably null Het
Tmem14a C T 1: 21,229,511 (GRCm38) Q122* probably null Het
Tmem161b C A 13: 84,222,418 (GRCm38) probably benign Het
Trmt61a A G 12: 111,678,887 (GRCm38) I86V possibly damaging Het
Tubgcp4 G A 2: 121,189,966 (GRCm38) probably null Het
Vmn1r79 T A 7: 12,176,741 (GRCm38) Y183* probably null Het
Vmn2r11 A T 5: 109,054,876 (GRCm38) W112R probably benign Het
Vpreb1a T C 16: 16,868,652 (GRCm38) K125E probably benign Het
Wdr6 A T 9: 108,574,772 (GRCm38) F637L probably damaging Het
Other mutations in Spire1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Spire1 APN 18 67,529,015 (GRCm38) missense probably damaging 1.00
IGL01639:Spire1 APN 18 67,545,668 (GRCm38) missense possibly damaging 0.74
IGL02334:Spire1 APN 18 67,506,655 (GRCm38) missense probably benign 0.00
PIT4677001:Spire1 UTSW 18 67,491,365 (GRCm38) missense probably damaging 1.00
R0457:Spire1 UTSW 18 67,552,600 (GRCm38) missense probably damaging 0.98
R0531:Spire1 UTSW 18 67,491,305 (GRCm38) missense probably damaging 1.00
R0608:Spire1 UTSW 18 67,528,875 (GRCm38) missense probably damaging 0.99
R2098:Spire1 UTSW 18 67,503,466 (GRCm38) missense probably damaging 0.99
R2299:Spire1 UTSW 18 67,530,423 (GRCm38) missense probably damaging 1.00
R3028:Spire1 UTSW 18 67,491,347 (GRCm38) missense probably damaging 1.00
R3815:Spire1 UTSW 18 67,506,663 (GRCm38) missense probably benign 0.05
R4049:Spire1 UTSW 18 67,529,031 (GRCm38) splice site probably null
R4050:Spire1 UTSW 18 67,529,031 (GRCm38) splice site probably null
R4059:Spire1 UTSW 18 67,545,713 (GRCm38) missense probably damaging 0.98
R4109:Spire1 UTSW 18 67,497,217 (GRCm38) missense probably damaging 1.00
R4700:Spire1 UTSW 18 67,512,865 (GRCm38) missense probably benign 0.01
R4941:Spire1 UTSW 18 67,519,314 (GRCm38) missense possibly damaging 0.54
R4995:Spire1 UTSW 18 67,552,779 (GRCm38) splice site probably null
R5363:Spire1 UTSW 18 67,506,555 (GRCm38) missense probably damaging 1.00
R5561:Spire1 UTSW 18 67,506,646 (GRCm38) missense probably damaging 0.96
R5795:Spire1 UTSW 18 67,495,195 (GRCm38) missense probably benign
R5952:Spire1 UTSW 18 67,506,709 (GRCm38) missense probably benign 0.00
R5982:Spire1 UTSW 18 67,497,316 (GRCm38) critical splice acceptor site probably null
R7559:Spire1 UTSW 18 67,501,117 (GRCm38) missense probably benign 0.04
R8006:Spire1 UTSW 18 67,501,181 (GRCm38) nonsense probably null
R8111:Spire1 UTSW 18 67,519,321 (GRCm38) missense probably damaging 0.98
R8675:Spire1 UTSW 18 67,491,308 (GRCm38) missense possibly damaging 0.48
R8946:Spire1 UTSW 18 67,496,616 (GRCm38) missense probably damaging 1.00
R9441:Spire1 UTSW 18 67,519,392 (GRCm38) missense probably benign 0.41
R9706:Spire1 UTSW 18 67,503,438 (GRCm38) missense probably benign 0.39
T0970:Spire1 UTSW 18 67,501,063 (GRCm38) splice site probably null
Z1088:Spire1 UTSW 18 67,495,152 (GRCm38) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- AAACTGAAGGTATGTCTCTGTGC -3'
(R):5'- CAGTTGTCACAGGAGAAGAACC -3'

Sequencing Primer
(F):5'- ACTGAAGGTATGTCTCTGTGCTTTAG -3'
(R):5'- TGACCCCAGCTCTTAGGATGTAG -3'
Posted On 2019-09-13