Incidental Mutation 'R6554:Spdl1'
ID 521863
Institutional Source Beutler Lab
Gene Symbol Spdl1
Ensembl Gene ENSMUSG00000069910
Gene Name spindle apparatus coiled-coil protein 1
Synonyms 2600001J17Rik, Ccdc99, 1700018I02Rik, 2810049B11Rik
MMRRC Submission 044679-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R6554 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 34700017-34724468 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 34713397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 224 (N224T)
Ref Sequence ENSEMBL: ENSMUSP00000090882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093191]
AlphaFold Q923A2
Predicted Effect possibly damaging
Transcript: ENSMUST00000093191
AA Change: N224T

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090882
Gene: ENSMUSG00000069910
AA Change: N224T

DomainStartEndE-ValueType
coiled coil region 35 342 N/A INTRINSIC
coiled coil region 370 441 N/A INTRINSIC
low complexity region 463 478 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148853
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in mitotic checkpoint signaling. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,618,246 (GRCm39) R180C probably damaging Het
B3galt9 C A 2: 34,729,276 (GRCm39) S358R probably benign Het
Ces1b C A 8: 93,791,619 (GRCm39) V327L probably benign Het
Cps1 C T 1: 67,213,628 (GRCm39) R787* probably null Het
Dmrt2 C T 19: 25,655,312 (GRCm39) P304S probably damaging Het
Dop1b A G 16: 93,557,346 (GRCm39) D429G probably benign Het
Dync1h1 T A 12: 110,616,282 (GRCm39) M3111K probably benign Het
Dync2h1 A G 9: 7,037,699 (GRCm39) V3393A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fam184a T C 10: 53,517,063 (GRCm39) D1007G possibly damaging Het
Flt3 A C 5: 147,312,545 (GRCm39) L132W probably damaging Het
Gm14322 G A 2: 177,410,220 (GRCm39) S60N possibly damaging Het
Katnip C T 7: 125,449,914 (GRCm39) R993C probably damaging Het
Kcnj16 T A 11: 110,916,131 (GRCm39) Y264* probably null Het
Klkb1 T A 8: 45,726,591 (GRCm39) I471F probably damaging Het
Lrfn4 T C 19: 4,663,914 (GRCm39) T207A probably damaging Het
Mfsd4b5 T A 10: 39,862,428 (GRCm39) T32S probably benign Het
Mtbp A G 15: 55,430,645 (GRCm39) D234G probably damaging Het
Nfix T C 8: 85,454,279 (GRCm39) T218A possibly damaging Het
Nsd3 A T 8: 26,152,891 (GRCm39) E410D probably damaging Het
Or4g17 C T 2: 111,209,504 (GRCm39) S53F possibly damaging Het
Or5aq7 A T 2: 86,937,970 (GRCm39) S254T probably benign Het
Reln T C 5: 22,101,838 (GRCm39) Y3364C probably damaging Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Serpina1d A T 12: 103,731,062 (GRCm39) H305Q probably benign Het
Skic8 A T 9: 54,634,929 (GRCm39) I88N probably damaging Het
Skint8 G A 4: 111,784,413 (GRCm39) C13Y probably benign Het
Smc4 G A 3: 68,936,848 (GRCm39) V863I probably benign Het
Sprr1b T G 3: 92,344,420 (GRCm39) Q152P possibly damaging Het
St6gal1 A G 16: 23,140,405 (GRCm39) N192S probably benign Het
Tbc1d8 T C 1: 39,445,903 (GRCm39) N96S probably damaging Het
Tbccd1 A T 16: 22,640,874 (GRCm39) I501K probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Unk T C 11: 115,942,285 (GRCm39) I293T probably damaging Het
Vmn2r61 A G 7: 41,926,139 (GRCm39) E548G probably damaging Het
Wdr97 A G 15: 76,239,178 (GRCm39) D85G possibly damaging Het
Zeb2 A T 2: 44,887,524 (GRCm39) V496E probably damaging Het
Other mutations in Spdl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02417:Spdl1 APN 11 34,704,181 (GRCm39) missense probably benign 0.27
IGL02694:Spdl1 APN 11 34,704,448 (GRCm39) missense probably benign 0.05
IGL03131:Spdl1 APN 11 34,721,592 (GRCm39) missense possibly damaging 0.46
R0295:Spdl1 UTSW 11 34,704,170 (GRCm39) missense possibly damaging 0.82
R0319:Spdl1 UTSW 11 34,714,347 (GRCm39) missense possibly damaging 0.66
R1017:Spdl1 UTSW 11 34,710,117 (GRCm39) missense possibly damaging 0.66
R1195:Spdl1 UTSW 11 34,710,644 (GRCm39) missense probably damaging 0.97
R1195:Spdl1 UTSW 11 34,710,644 (GRCm39) missense probably damaging 0.97
R1195:Spdl1 UTSW 11 34,710,644 (GRCm39) missense probably damaging 0.97
R1296:Spdl1 UTSW 11 34,704,434 (GRCm39) missense unknown
R1315:Spdl1 UTSW 11 34,704,234 (GRCm39) missense unknown
R1799:Spdl1 UTSW 11 34,711,856 (GRCm39) nonsense probably null
R2002:Spdl1 UTSW 11 34,713,473 (GRCm39) missense probably benign
R2291:Spdl1 UTSW 11 34,710,136 (GRCm39) nonsense probably null
R4771:Spdl1 UTSW 11 34,704,154 (GRCm39) missense probably damaging 0.98
R5030:Spdl1 UTSW 11 34,714,267 (GRCm39) missense probably benign 0.00
R5167:Spdl1 UTSW 11 34,704,187 (GRCm39) missense possibly damaging 0.79
R5477:Spdl1 UTSW 11 34,713,037 (GRCm39) missense possibly damaging 0.66
R6258:Spdl1 UTSW 11 34,710,713 (GRCm39) missense probably damaging 0.97
R6260:Spdl1 UTSW 11 34,710,713 (GRCm39) missense probably damaging 0.97
R6695:Spdl1 UTSW 11 34,713,830 (GRCm39) splice site probably null
R6714:Spdl1 UTSW 11 34,713,830 (GRCm39) splice site probably null
R6980:Spdl1 UTSW 11 34,721,706 (GRCm39) start codon destroyed probably null 0.04
R7355:Spdl1 UTSW 11 34,714,191 (GRCm39) missense not run
R7791:Spdl1 UTSW 11 34,704,304 (GRCm39) missense possibly damaging 0.83
R7844:Spdl1 UTSW 11 34,704,170 (GRCm39) missense possibly damaging 0.82
R8029:Spdl1 UTSW 11 34,713,419 (GRCm39) missense probably benign 0.00
R8515:Spdl1 UTSW 11 34,704,252 (GRCm39) missense possibly damaging 0.92
R8923:Spdl1 UTSW 11 34,704,478 (GRCm39) missense possibly damaging 0.66
R9005:Spdl1 UTSW 11 34,700,535 (GRCm39) missense possibly damaging 0.83
R9502:Spdl1 UTSW 11 34,713,283 (GRCm39) missense possibly damaging 0.66
Z1176:Spdl1 UTSW 11 34,713,284 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ACTCAGTCAGGAGAAGGCTTG -3'
(R):5'- CAACTGCTGAGTGAGAAATTATGTC -3'

Sequencing Primer
(F):5'- AAGGCTTGCAAGTACCTCTG -3'
(R):5'- AGAAATTATGTCTGTGTTCCTGC -3'
Posted On 2018-06-06