Incidental Mutation 'R4995:Spire1'
ID 446650
Institutional Source Beutler Lab
Gene Symbol Spire1
Ensembl Gene ENSMUSG00000024533
Gene Name spire type actin nucleation factor 1
Synonyms 6030430B19Rik, Spir-1
MMRRC Submission 042589-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R4995 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 67488209-67610790 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 67552779 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045105] [ENSMUST00000082243] [ENSMUST00000115050] [ENSMUST00000224799]
AlphaFold Q52KF3
Predicted Effect probably benign
Transcript: ENSMUST00000045105
SMART Domains Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533

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 null
Transcript: ENSMUST00000082243
SMART Domains Protein: ENSMUSP00000080871
Gene: ENSMUSG00000024533

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 benign
Transcript: ENSMUST00000115050
SMART Domains Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533

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 probably benign
Transcript: ENSMUST00000224799
Meta Mutation Damage Score 0.9118 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (86/87)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik G A 2: 19,494,184 (GRCm38) Q333* probably null Het
4930505A04Rik C T 11: 30,426,349 (GRCm38) V173M probably damaging Het
Acvrl1 G A 15: 101,135,860 (GRCm38) R141H probably benign Het
Adprm A G 11: 67,041,610 (GRCm38) F158L possibly damaging Het
Aldoart2 C T 12: 55,566,253 (GRCm38) T321M probably benign Het
Ap3m2 A G 8: 22,803,776 (GRCm38) V86A probably benign Het
Arhgef19 T A 4: 141,247,515 (GRCm38) probably null Het
Bcl2l12 T G 7: 44,994,191 (GRCm38) probably null Het
Bptf T C 11: 107,054,565 (GRCm38) Q2501R probably damaging Het
C230029F24Rik A T 1: 49,338,136 (GRCm38) noncoding transcript Het
C7 C T 15: 5,049,592 (GRCm38) G78D probably damaging Het
Caly T C 7: 140,070,625 (GRCm38) T135A probably benign Het
Cbl A G 9: 44,153,811 (GRCm38) M740T possibly damaging Het
Cbx4 A G 11: 119,081,211 (GRCm38) V446A probably benign Het
Celsr1 C A 15: 85,937,911 (GRCm38) R1735L probably damaging Het
Cep250 A G 2: 155,988,316 (GRCm38) D135G probably damaging Het
Cgn T C 3: 94,779,936 (GRCm38) T19A probably damaging Het
Chic2 A T 5: 75,044,204 (GRCm38) V32D probably damaging Het
Cntln A G 4: 85,049,883 (GRCm38) K780E probably benign Het
Col8a2 A T 4: 126,310,788 (GRCm38) D197V probably damaging Het
Crot A T 5: 8,974,000 (GRCm38) V372E probably damaging Het
Cyb561d2 C T 9: 107,541,548 (GRCm38) V26M probably damaging Het
Ddx5 G A 11: 106,785,236 (GRCm38) T237I probably damaging Het
Dmxl2 G T 9: 54,501,441 (GRCm38) probably benign Het
Dock8 T A 19: 25,158,383 (GRCm38) S1188R probably benign Het
Ehbp1 T A 11: 22,101,073 (GRCm38) H493L probably damaging Het
Eif5b T A 1: 38,051,711 (GRCm38) *1217K probably null Het
Eprs1 A G 1: 185,410,139 (GRCm38) probably benign Het
Etfdh T C 3: 79,605,788 (GRCm38) D376G probably benign Het
Fam186a T C 15: 99,945,099 (GRCm38) Q1088R probably benign Het
Fbxw16 G T 9: 109,441,250 (GRCm38) T141N probably damaging Het
Fgf11 G A 11: 69,798,759 (GRCm38) H138Y probably damaging Het
Htra3 T C 5: 35,671,074 (GRCm38) E154G probably damaging Het
Hydin T A 8: 110,569,642 (GRCm38) V3601D probably damaging Het
Jup G T 11: 100,379,541 (GRCm38) S380* probably null Het
Klrg1 T A 6: 122,278,275 (GRCm38) D66V probably benign Het
Llgl1 C T 11: 60,709,724 (GRCm38) A633V probably benign Het
Lmln T A 16: 33,074,097 (GRCm38) Y203* probably null Het
Lrrc58 T G 16: 37,877,056 (GRCm38) C165G probably benign Het
Lss T C 10: 76,547,537 (GRCm38) V557A probably benign Het
Mast4 T C 13: 102,905,754 (GRCm38) probably benign Het
Med13l C A 5: 118,730,949 (GRCm38) P754Q possibly damaging Het
Mga C T 2: 119,932,582 (GRCm38) R1240* probably null Het
Mgat5b T A 11: 116,974,199 (GRCm38) probably null Het
Mtor A G 4: 148,525,752 (GRCm38) D1572G probably damaging Het
Muc4 T A 16: 32,754,041 (GRCm38) S1306T probably benign Het
Muc4 T A 16: 32,754,214 (GRCm38) S1363T probably benign Het
Myo18b A G 5: 112,760,392 (GRCm38) V2005A probably damaging Het
Myo1e G A 9: 70,353,272 (GRCm38) D571N probably benign Het
Mypn T C 10: 63,119,968 (GRCm38) probably null Het
Ndufb10 T C 17: 24,722,757 (GRCm38) probably null Het
Nelfb G T 2: 25,206,196 (GRCm38) D300E probably benign Het
Nicol1 G A 5: 33,984,926 (GRCm38) R79H probably damaging Het
Odad2 G A 18: 7,223,663 (GRCm38) T460M probably damaging Het
Olfr625-ps1 T A 7: 103,683,367 (GRCm38) D206E probably damaging Het
Or2y1d T A 11: 49,430,655 (GRCm38) Y60N probably damaging Het
Or4e5 A T 14: 52,490,531 (GRCm38) C61* probably null Het
Or52n2c T A 7: 104,925,735 (GRCm38) T10S probably benign Het
Pcdha11 C T 18: 37,011,027 (GRCm38) T57M probably benign Het
Pkp1 A T 1: 135,880,855 (GRCm38) I458N possibly damaging Het
Prr12 T A 7: 45,051,229 (GRCm38) probably benign Het
Prrc2c A T 1: 162,705,310 (GRCm38) probably benign Het
Psd4 T C 2: 24,397,247 (GRCm38) F397S probably benign Het
Pygm T C 19: 6,398,139 (GRCm38) I737T probably damaging Het
Rfx1 T A 8: 84,080,114 (GRCm38) probably null Het
Rsl1 A G 13: 67,182,249 (GRCm38) T254A possibly damaging Het
Sh3rf3 A G 10: 59,086,824 (GRCm38) Q574R probably benign Het
St6galnac4 G A 2: 32,594,063 (GRCm38) G91D probably damaging Het
Sytl2 T C 7: 90,382,257 (GRCm38) probably benign Het
Tbpl2 T A 2: 24,093,860 (GRCm38) K188N possibly damaging Het
Tenm3 A T 8: 48,229,137 (GRCm38) M2486K possibly damaging Het
Tgoln1 A C 6: 72,616,140 (GRCm38) V119G possibly damaging Het
Tpgs1 A T 10: 79,669,491 (GRCm38) N28Y probably benign Het
U2surp A C 9: 95,462,794 (GRCm38) probably benign Het
Vmn2r103 A G 17: 19,773,511 (GRCm38) H50R probably benign Het
Vmn2r19 A G 6: 123,329,910 (GRCm38) N459S probably benign Het
Vmn2r72 T C 7: 85,738,485 (GRCm38) S624G probably damaging Het
Vps13c A G 9: 67,919,321 (GRCm38) T1415A probably benign Het
Vwa5b1 G A 4: 138,608,843 (GRCm38) P147S 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
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
R7388:Spire1 UTSW 18 67,519,880 (GRCm38) missense probably damaging 1.00
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'- AGGCAAACACTCAGTGAGCC -3'
(R):5'- GAAGGGCTTGTGGGTAGATTATAAC -3'

Sequencing Primer
(F):5'- ACCTTCATAACGTCCTGATAGG -3'
(R):5'- GTGATTATTTTATATCTTGCAGGTAG -3'
Posted On 2016-12-08