Incidental Mutation 'R9404:Spire2'
ID 711413
Institutional Source Beutler Lab
Gene Symbol Spire2
Ensembl Gene ENSMUSG00000010154
Gene Name spire type actin nucleation factor 2
Synonyms Spir-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock # R9404 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 123332713-123369515 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 123363338 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 580 (R580*)
Ref Sequence ENSEMBL: ENSMUSP00000010298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010298] [ENSMUST00000127664] [ENSMUST00000212404]
AlphaFold Q8K1S6
Predicted Effect probably null
Transcript: ENSMUST00000010298
AA Change: R580*
SMART Domains Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154
AA Change: R580*

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 probably null
Transcript: ENSMUST00000212404
AA Change: R480*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 T C 4: 106,758,312 K314R possibly damaging Het
Armt1 AC A 10: 4,450,848 probably null Het
Atad5 T C 11: 80,114,238 V1167A probably damaging Het
Bbs12 T C 3: 37,319,408 S2P probably damaging Het
Cdh11 A T 8: 102,679,622 L73Q probably damaging Het
Cdk15 A G 1: 59,289,755 E274G possibly damaging Het
Col27a1 T C 4: 63,275,941 V845A possibly damaging Het
Cyp3a11 T C 5: 145,862,448 T310A probably benign Het
Efcab5 G A 11: 77,132,108 T593I probably damaging Het
Ewsr1 A G 11: 5,072,940 M388T unknown Het
Fat2 A G 11: 55,253,522 probably null Het
Gm8225 T A 17: 26,543,060 I75N probably damaging Het
Gsap A G 5: 21,269,921 Y526C probably damaging Het
Hk1 T A 10: 62,296,080 I203F possibly damaging Het
Insl5 T C 4: 103,018,338 R72G probably benign Het
Iqcb1 T C 16: 36,851,270 V321A probably damaging Het
Iqcd A C 5: 120,600,536 T140P Het
Kcnt2 T A 1: 140,425,369 I272K probably damaging Het
Klhl25 A C 7: 75,865,405 I20L probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,850,378 probably benign Het
Lrba T C 3: 86,297,917 V356A probably damaging Het
Mast4 A G 13: 102,751,425 Y1159H probably damaging Het
Mavs T A 2: 131,241,898 L105Q probably damaging Het
Megf6 T A 4: 154,263,768 C902S Het
Mgea5 CTCGGGTC CTC 19: 45,754,657 probably null Het
Mmp17 A G 5: 129,605,677 D460G possibly damaging Het
Myh2 G T 11: 67,179,628 A466S probably damaging Het
Neb T C 2: 52,257,776 N2744D probably damaging Het
Olfr1197 T A 2: 88,729,207 M131L probably benign Het
Olfr169 C T 16: 19,565,981 V301M probably benign Het
Olfr213 T G 6: 116,540,747 I98S probably damaging Het
Olfr446 T C 6: 42,927,816 V195A probably benign Het
Olfr541 T A 7: 140,704,809 L186H probably damaging Het
Olfr972 A T 9: 39,873,412 I46F possibly damaging Het
Parpbp A G 10: 88,114,549 V323A possibly damaging Het
Pax5 G A 4: 44,645,565 P255S possibly damaging Het
Pcdhga2 A G 18: 37,670,014 T304A probably benign Het
Pcsk1 T G 13: 75,132,223 S722R probably benign Het
Pcsk9 C A 4: 106,454,526 R218L probably damaging Het
Pds5a T A 5: 65,618,964 I96F probably damaging Het
Pkdrej C A 15: 85,819,069 V889L probably benign Het
Plekhh2 A T 17: 84,571,040 probably null Het
Pnn A G 12: 59,071,972 E447G probably damaging Het
Ppp2r3a A G 9: 101,148,641 L289P probably damaging Het
Ppp6r2 A G 15: 89,268,550 H298R probably benign Het
Ptpn23 T C 9: 110,386,957 N1277S Het
Pus10 T A 11: 23,711,202 F263L possibly damaging Het
Rexo5 A G 7: 119,801,319 Y109C probably damaging Het
Rnf185 A T 11: 3,432,615 C23* probably null Het
Runx1 T C 16: 92,689,027 N140D probably benign Het
Sbf2 T C 7: 110,441,495 Q375R possibly damaging Het
Scn9a G A 2: 66,526,696 T1087I probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,467,570 probably benign Het
Sh2b1 TC TCAGCCACGGGGACCAGCCC 7: 126,467,599 probably benign Het
Slc7a11 T C 3: 50,381,039 H350R possibly damaging Het
Spaca6 T C 17: 17,837,538 C155R probably damaging Het
Srgap3 A T 6: 112,729,655 M851K probably benign Het
Themis A G 10: 28,789,747 D602G probably benign Het
Tmem56 T C 3: 121,235,082 N52S probably benign Het
Trak2 T C 1: 58,921,137 T236A possibly damaging Het
Trrap T C 5: 144,815,415 C1709R possibly damaging Het
Ttn A T 2: 76,754,156 S22203T probably damaging Het
Ube3a A G 7: 59,287,015 T701A probably damaging Het
Ufl1 T C 4: 25,275,912 I164V probably benign Het
Vcpip1 T C 1: 9,747,631 T176A probably damaging Het
Virma T A 4: 11,513,626 D493E probably benign Het
Vmn2r77 T A 7: 86,802,039 W378R probably benign Het
Vps13b A T 15: 35,876,419 T2799S probably damaging Het
Vps8 T C 16: 21,608,177 S1337P probably benign Het
Zcchc6 A T 13: 59,799,887 N873K probably benign Het
Zfp235 A T 7: 24,140,437 I94F possibly damaging Het
Zfp3 A G 11: 70,772,540 K442E probably damaging Het
Zfp418 A T 7: 7,182,105 I356F possibly damaging Het
Zfp790 G A 7: 29,825,760 G68S probably benign 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
R4931:Spire2 UTSW 8 123368784 missense possibly damaging 0.54
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
R7851:Spire2 UTSW 8 123356699 splice site probably null
R7903:Spire2 UTSW 8 123368750 missense probably benign
R7923:Spire2 UTSW 8 123332987 missense probably benign 0.00
R8181:Spire2 UTSW 8 123361303 missense probably damaging 0.99
R8673:Spire2 UTSW 8 123360128 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTCGGATGCCCTTGGTG -3'
(R):5'- CAAACATCCCCAGGCTGGC -3'

Sequencing Primer
(F):5'- ATGCCCTTGGTGCAGGG -3'
(R):5'- TGGCTAAACATGGATGTCCC -3'
Posted On 2022-05-16