Incidental Mutation 'R4236:Spc24'
ID 321127
Institutional Source Beutler Lab
Gene Symbol Spc24
Ensembl Gene ENSMUSG00000074476
Gene Name SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)
Synonyms Spbc24, 2410030K01Rik
MMRRC Submission 041053-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R4236 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 21666738-21671599 bp(-) (GRCm39)
Type of Mutation splice site (937 bp from exon)
DNA Base Change (assembly) T to C at 21667498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098942] [ENSMUST00000214149] [ENSMUST00000216057] [ENSMUST00000217382]
AlphaFold Q9D083
Predicted Effect probably benign
Transcript: ENSMUST00000098942
AA Change: D194G

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000096541
Gene: ENSMUSG00000074476
AA Change: D194G

DomainStartEndE-ValueType
Pfam:Spc24 75 192 1.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213665
Predicted Effect probably null
Transcript: ENSMUST00000214149
Predicted Effect probably benign
Transcript: ENSMUST00000216057
Predicted Effect probably benign
Transcript: ENSMUST00000217382
Meta Mutation Damage Score 0.1403 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Abca13 A T 11: 9,206,205 (GRCm39) K168N probably damaging Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cela1 T C 15: 100,580,794 (GRCm39) Y91C probably damaging Het
Chrnb3 C A 8: 27,884,021 (GRCm39) L253M probably damaging Het
Col24a1 G T 3: 145,230,037 (GRCm39) G1493* probably null Het
Dnah7a C T 1: 53,486,524 (GRCm39) E3346K probably benign Het
Dock5 A T 14: 67,993,941 (GRCm39) S1845T probably benign Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Eif1ad8 A T 12: 87,563,935 (GRCm39) D90V probably damaging Het
F2rl1 A G 13: 95,649,796 (GRCm39) L362P probably damaging Het
Gal3st2c T C 1: 93,936,463 (GRCm39) F136S probably damaging Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Klhl23 T C 2: 69,654,516 (GRCm39) F129L probably damaging Het
Krt71 T C 15: 101,643,129 (GRCm39) T460A probably benign Het
Madd C T 2: 90,997,373 (GRCm39) R746Q probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Myh6 T G 14: 55,197,819 (GRCm39) M440L probably benign Het
Myh7 T A 14: 55,228,575 (GRCm39) S205C probably benign Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or13a20 T C 7: 140,232,653 (GRCm39) Y254H probably damaging Het
Or1e17 A G 11: 73,831,182 (GRCm39) T37A possibly damaging Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pcdh7 G A 5: 57,876,631 (GRCm39) G62D possibly damaging Het
Pde3b A G 7: 114,120,923 (GRCm39) T683A possibly damaging Het
Plcb2 A T 2: 118,540,047 (GRCm39) L1082Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc6a6 T C 6: 91,718,257 (GRCm39) V357A probably damaging Het
Slitrk6 T C 14: 110,987,580 (GRCm39) E709G probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tfcp2l1 G A 1: 118,589,795 (GRCm39) R285H probably benign Het
Tmem132d A G 5: 128,509,389 (GRCm39) S14P possibly damaging Het
Tulp2 A G 7: 45,171,298 (GRCm39) K360E probably damaging Het
Vmn1r60 A G 7: 5,547,803 (GRCm39) V99A probably benign Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null Het
Other mutations in Spc24
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0331:Spc24 UTSW 9 21,668,609 (GRCm39) missense possibly damaging 0.74
R3026:Spc24 UTSW 9 21,667,511 (GRCm39) makesense probably null
R3027:Spc24 UTSW 9 21,667,511 (GRCm39) makesense probably null
R3028:Spc24 UTSW 9 21,667,511 (GRCm39) makesense probably null
R4231:Spc24 UTSW 9 21,667,498 (GRCm39) splice site probably null
R4233:Spc24 UTSW 9 21,667,498 (GRCm39) splice site probably null
R5635:Spc24 UTSW 9 21,668,686 (GRCm39) missense probably damaging 0.99
R7371:Spc24 UTSW 9 21,668,664 (GRCm39) missense probably damaging 1.00
R8400:Spc24 UTSW 9 21,669,026 (GRCm39) missense probably damaging 1.00
R8892:Spc24 UTSW 9 21,668,994 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTCTAACCTCTCCTGGAATACAC -3'
(R):5'- CTCACCGAGCCTAATGACTGG -3'

Sequencing Primer
(F):5'- TCTCCTGGAATACACAGCTAACAG -3'
(R):5'- TGGAATTCAATCCCTGGGAC -3'
Posted On 2015-06-12