Incidental Mutation 'R0531:Spire1'
ID 49202
Institutional Source Beutler Lab
Gene Symbol Spire1
Ensembl Gene ENSMUSG00000024533
Gene Name spire type actin nucleation factor 1
Synonyms 6030430B19Rik, Spir-1
MMRRC Submission 038723-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R0531 (G1)
Quality Score 163
Status Validated
Chromosome 18
Chromosomal Location 67621279-67743860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67624375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 512 (I512V)
Ref Sequence ENSEMBL: ENSMUSP00000153492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045105] [ENSMUST00000082243] [ENSMUST00000115050] [ENSMUST00000224799]
AlphaFold Q52KF3
Predicted Effect probably benign
Transcript: ENSMUST00000045105
AA Change: I640V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533
AA Change: I640V

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: I595V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080871
Gene: ENSMUSG00000024533
AA Change: I595V

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: I595V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533
AA Change: I595V

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 unknown
Transcript: ENSMUST00000224122
AA Change: I340V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224659
Predicted Effect probably damaging
Transcript: ENSMUST00000224799
AA Change: I512V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.1200 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (69/69)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,892,127 (GRCm39) N130D probably benign Het
Acot6 C A 12: 84,148,075 (GRCm39) D110E probably benign Het
Agrn T A 4: 156,263,891 (GRCm39) N124I probably benign Het
Astn1 G T 1: 158,427,959 (GRCm39) G710V probably damaging Het
Bcar3 T C 3: 122,220,148 (GRCm39) V15A probably benign Het
Best3 T C 10: 116,840,280 (GRCm39) probably benign Het
Bltp1 T A 3: 37,090,974 (GRCm39) I743N probably damaging Het
Cenpa T C 5: 30,829,837 (GRCm39) F39L possibly damaging Het
Cfap44 A T 16: 44,221,789 (GRCm39) M1L probably benign Het
Chrnd A G 1: 87,122,541 (GRCm39) I107M probably damaging Het
Col11a2 A G 17: 34,277,351 (GRCm39) probably benign Het
Dnah10 G A 5: 124,889,787 (GRCm39) probably null Het
Entpd8 A G 2: 24,974,781 (GRCm39) Y404C probably damaging Het
Fam118a T C 15: 84,932,633 (GRCm39) I125T possibly damaging Het
Fam161a G A 11: 22,970,298 (GRCm39) E159K possibly damaging Het
Fkbp5 A T 17: 28,657,003 (GRCm39) H71Q probably benign Het
Frem2 A T 3: 53,427,375 (GRCm39) Y2926N probably damaging Het
Gap43 A T 16: 42,112,691 (GRCm39) D23E probably damaging Het
Glt8d1 T C 14: 30,728,461 (GRCm39) F3S probably benign Het
Gm11555 C T 11: 99,540,844 (GRCm39) probably benign Het
Gtpbp1 G A 15: 79,604,292 (GRCm39) G667S probably damaging Het
H2-T24 A C 17: 36,326,463 (GRCm39) S145R probably benign Het
Inpp5b A T 4: 124,689,249 (GRCm39) N843I probably damaging Het
Jak3 C T 8: 72,139,620 (GRCm39) probably benign Het
Krt8 T A 15: 101,909,883 (GRCm39) M174L probably benign Het
Ktn1 C T 14: 47,901,398 (GRCm39) T52I probably damaging Het
Lrp4 T C 2: 91,305,523 (GRCm39) probably benign Het
Nefh G A 11: 4,890,240 (GRCm39) A793V probably damaging Het
Niban1 T C 1: 151,593,835 (GRCm39) V840A probably benign Het
Notch1 A G 2: 26,356,584 (GRCm39) S1678P probably benign Het
Notch2 C T 3: 98,009,767 (GRCm39) probably benign Het
Nrxn3 T C 12: 88,762,112 (GRCm39) F53S probably damaging Het
Or10d4c A G 9: 39,558,168 (GRCm39) T49A probably benign Het
Or2ab1 A G 11: 58,488,674 (GRCm39) I151V probably benign Het
Or5ac25 T A 16: 59,182,171 (GRCm39) N137Y probably damaging Het
Or6z5 A T 7: 6,477,234 (GRCm39) I42F possibly damaging Het
Or8g17 G T 9: 38,930,472 (GRCm39) R122S probably damaging Het
Or9i16 C T 19: 13,865,116 (GRCm39) V153I possibly damaging Het
Pak4 T A 7: 28,267,479 (GRCm39) I62F possibly damaging Het
Pcdhb12 T A 18: 37,570,371 (GRCm39) F506I probably damaging Het
Per1 A T 11: 68,995,016 (GRCm39) D632V probably damaging Het
Plec A G 15: 76,061,498 (GRCm39) M2678T probably benign Het
Plg A G 17: 12,630,334 (GRCm39) probably benign Het
Prmt1 A T 7: 44,627,048 (GRCm39) S304R probably damaging Het
Prr27 T C 5: 87,990,537 (GRCm39) F50L probably benign Het
Prune2 T C 19: 16,984,117 (GRCm39) L159P probably damaging Het
Ptpn12 A T 5: 21,203,481 (GRCm39) N432K possibly damaging Het
Rfwd3 A G 8: 112,020,621 (GRCm39) probably null Het
Rims2 A T 15: 39,430,426 (GRCm39) D1170V probably damaging Het
Sag T C 1: 87,762,351 (GRCm39) probably null Het
Sall4 C T 2: 168,598,256 (GRCm39) A195T probably benign Het
Sbf2 G A 7: 109,966,530 (GRCm39) probably benign Het
Scaper A T 9: 55,517,158 (GRCm39) D599E possibly damaging Het
Sema7a G A 9: 57,867,876 (GRCm39) S484N possibly damaging Het
Senp1 A G 15: 97,962,761 (GRCm39) probably benign Het
Senp6 A G 9: 80,031,166 (GRCm39) T623A probably damaging Het
Siae A G 9: 37,539,090 (GRCm39) D95G probably benign Het
Slc26a2 T C 18: 61,331,451 (GRCm39) D660G probably damaging Het
Slc3a1 T C 17: 85,336,077 (GRCm39) F73S possibly damaging Het
Slfn5 A T 11: 82,851,866 (GRCm39) Q664L probably damaging Het
Srpra A G 9: 35,124,797 (GRCm39) T133A probably benign Het
Stag1 A G 9: 100,836,300 (GRCm39) *175W probably null Het
Stk32c C A 7: 138,700,636 (GRCm39) V316F probably damaging Het
Tekt1 A C 11: 72,236,420 (GRCm39) N347K possibly damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Tnpo2 T A 8: 85,776,786 (GRCm39) C498S probably damaging Het
Tra2b G A 16: 22,065,955 (GRCm39) R281* probably null Het
Ubr5 A T 15: 37,991,588 (GRCm39) I1985N probably benign Het
Ush2a T G 1: 188,175,378 (GRCm39) S1159A probably benign Het
Vmn1r15 C T 6: 57,235,236 (GRCm39) P35S probably benign Het
Vmn1r6 A T 6: 56,979,583 (GRCm39) I60L probably benign Het
Vps8 A G 16: 21,278,561 (GRCm39) probably benign Het
Xkr7 T C 2: 152,874,272 (GRCm39) V113A possibly damaging Het
Other mutations in Spire1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Spire1 APN 18 67,662,085 (GRCm39) missense probably damaging 1.00
IGL01639:Spire1 APN 18 67,678,738 (GRCm39) missense possibly damaging 0.74
IGL02334:Spire1 APN 18 67,639,725 (GRCm39) missense probably benign 0.00
PIT4677001:Spire1 UTSW 18 67,624,435 (GRCm39) missense probably damaging 1.00
R0457:Spire1 UTSW 18 67,685,670 (GRCm39) missense probably damaging 0.98
R0608:Spire1 UTSW 18 67,661,945 (GRCm39) missense probably damaging 0.99
R2098:Spire1 UTSW 18 67,636,536 (GRCm39) missense probably damaging 0.99
R2299:Spire1 UTSW 18 67,663,493 (GRCm39) missense probably damaging 1.00
R3028:Spire1 UTSW 18 67,624,417 (GRCm39) missense probably damaging 1.00
R3815:Spire1 UTSW 18 67,639,733 (GRCm39) missense probably benign 0.05
R4049:Spire1 UTSW 18 67,662,101 (GRCm39) splice site probably null
R4050:Spire1 UTSW 18 67,662,101 (GRCm39) splice site probably null
R4059:Spire1 UTSW 18 67,678,783 (GRCm39) missense probably damaging 0.98
R4109:Spire1 UTSW 18 67,630,287 (GRCm39) missense probably damaging 1.00
R4700:Spire1 UTSW 18 67,645,935 (GRCm39) missense probably benign 0.01
R4941:Spire1 UTSW 18 67,652,384 (GRCm39) missense possibly damaging 0.54
R4995:Spire1 UTSW 18 67,685,849 (GRCm39) splice site probably null
R5363:Spire1 UTSW 18 67,639,625 (GRCm39) missense probably damaging 1.00
R5561:Spire1 UTSW 18 67,639,716 (GRCm39) missense probably damaging 0.96
R5795:Spire1 UTSW 18 67,628,265 (GRCm39) missense probably benign
R5952:Spire1 UTSW 18 67,639,779 (GRCm39) missense probably benign 0.00
R5982:Spire1 UTSW 18 67,630,386 (GRCm39) critical splice acceptor site probably null
R7388:Spire1 UTSW 18 67,652,950 (GRCm39) missense probably damaging 1.00
R7559:Spire1 UTSW 18 67,634,187 (GRCm39) missense probably benign 0.04
R8006:Spire1 UTSW 18 67,634,251 (GRCm39) nonsense probably null
R8111:Spire1 UTSW 18 67,652,391 (GRCm39) missense probably damaging 0.98
R8675:Spire1 UTSW 18 67,624,378 (GRCm39) missense possibly damaging 0.48
R8946:Spire1 UTSW 18 67,629,686 (GRCm39) missense probably damaging 1.00
R9441:Spire1 UTSW 18 67,652,462 (GRCm39) missense probably benign 0.41
R9706:Spire1 UTSW 18 67,636,508 (GRCm39) missense probably benign 0.39
T0970:Spire1 UTSW 18 67,634,133 (GRCm39) splice site probably null
Z1088:Spire1 UTSW 18 67,628,222 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GCAAATGACCAAGTGGCTGACCTG -3'
(R):5'- TCTGTGGACAAGTCCGATGAGGAG -3'

Sequencing Primer
(F):5'- GGCTGACCTGCCTCCTAC -3'
(R):5'- CTCATGGAGGACTGGAGCAC -3'
Posted On 2013-06-12