Incidental Mutation 'R3026:Spc24'
ID 265821
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 040542-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R3026 (G1)
Quality Score 199
Status Not validated
Chromosome 9
Chromosomal Location 21666738-21671599 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) AGAGGTAGTCACTGA to AGA at 21667511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098942] [ENSMUST00000214149] [ENSMUST00000216057] [ENSMUST00000217382]
AlphaFold Q9D083
Predicted Effect probably benign
Transcript: ENSMUST00000098942
SMART Domains Protein: ENSMUSP00000096541
Gene: ENSMUSG00000074476

DomainStartEndE-ValueType
Pfam:Spc24 75 192 1.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213665
Predicted Effect probably benign
Transcript: ENSMUST00000214149
Predicted Effect probably null
Transcript: ENSMUST00000216057
Predicted Effect probably benign
Transcript: ENSMUST00000217382
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC051665 T A 13: 60,932,521 (GRCm39) N55Y probably damaging Het
Cdh19 T C 1: 110,882,418 (GRCm39) T25A probably benign Het
Eef1akmt1 A T 14: 57,787,891 (GRCm39) S156T probably damaging Het
Fsip1 T C 2: 118,080,384 (GRCm39) H124R probably benign Het
Gba2 C A 4: 43,578,308 (GRCm39) A14S possibly damaging Het
Iqgap2 T A 13: 95,809,564 (GRCm39) probably null Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Mapk8ip2 C T 15: 89,345,649 (GRCm39) A803V probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nav3 A G 10: 109,660,465 (GRCm39) S702P probably damaging Het
Nudt14 T C 12: 112,905,612 (GRCm39) Q27R probably null Het
Or51h1 T C 7: 102,308,336 (GRCm39) F103L possibly damaging Het
Pdilt T A 7: 119,114,177 (GRCm39) Q107L probably benign Het
Rasgrp3 T C 17: 75,831,916 (GRCm39) V579A possibly damaging Het
Rasl11a G A 5: 146,784,187 (GRCm39) V211I probably benign Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Shoc1 A G 4: 59,062,656 (GRCm39) S867P possibly damaging Het
Synj1 A T 16: 90,775,622 (GRCm39) D385E probably damaging Het
Usp48 A G 4: 137,321,755 (GRCm39) E49G probably benign Het
Vmn1r202 C T 13: 22,685,932 (GRCm39) V162I probably benign Het
Other mutations in Spc24
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0331:Spc24 UTSW 9 21,668,609 (GRCm39) missense possibly damaging 0.74
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
R4236: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'- GCCAGCCTGGACTCCATG -3'
(R):5'- TAGATCGTTTTCTCAGCCTGC -3'

Sequencing Primer
(F):5'- GGACTCCATGCTGTCTCAAAG -3'
(R):5'- GCTGCAAATCCTTGGTGAAC -3'
Posted On 2015-02-05