Incidental Mutation 'R1195:Spdl1'
ID 101065
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 039267-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R1195 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 34700017-34724468 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34710644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 368 (Y368C)
Ref Sequence ENSEMBL: ENSMUSP00000090882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093191]
AlphaFold Q923A2
Predicted Effect probably damaging
Transcript: ENSMUST00000093191
AA Change: Y368C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090882
Gene: ENSMUSG00000069910
AA Change: Y368C

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
Meta Mutation Damage Score 0.1510 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 81.3%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a C A 13: 30,565,901 (GRCm39) P322Q probably damaging Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
Brd1 T C 15: 88,585,014 (GRCm39) E940G probably benign Het
Cd28 C T 1: 60,802,303 (GRCm39) T74I possibly damaging Het
Cntnap2 T A 6: 46,460,902 (GRCm39) M646K probably benign Het
Cyb5d1 C T 11: 69,285,797 (GRCm39) probably null Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dst A G 1: 34,250,235 (GRCm39) D4063G probably damaging Het
Elmod1 T C 9: 53,843,052 (GRCm39) Y42C probably damaging Het
Hdac5 T C 11: 102,096,332 (GRCm39) I310V probably damaging Het
Ighv10-1 A T 12: 114,443,015 (GRCm39) probably benign Het
Igsf3 A G 3: 101,365,419 (GRCm39) D1130G probably benign Het
Katnip A G 7: 125,465,654 (GRCm39) R1343G probably damaging Het
Kdm4d A G 9: 14,374,395 (GRCm39) S488P probably benign Het
Lingo2 A G 4: 35,708,538 (GRCm39) Y481H probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Map3k20 C T 2: 72,268,562 (GRCm39) P523L probably damaging Het
Msx1 A G 5: 37,978,625 (GRCm39) Y297H probably damaging Het
Myo9a A G 9: 59,802,483 (GRCm39) D1990G probably damaging Het
Niban2 T C 2: 32,809,815 (GRCm39) V304A probably benign Het
Perp C A 10: 18,731,483 (GRCm39) Y147* probably null Het
Prr16 A T 18: 51,435,755 (GRCm39) D78V probably damaging Het
Rfx7 C T 9: 72,525,228 (GRCm39) T806M probably damaging Het
Robo2 T C 16: 73,713,016 (GRCm39) probably null Het
Sema5b A T 16: 35,472,030 (GRCm39) E496V probably null Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sptbn2 G C 19: 4,795,921 (GRCm39) R1700P possibly damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tln2 T G 9: 67,165,848 (GRCm39) K1000Q probably damaging Het
Tmbim7 A G 5: 3,711,943 (GRCm39) T63A probably benign Het
Tmed11 T C 5: 108,926,885 (GRCm39) D129G possibly damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttll6 T C 11: 96,026,555 (GRCm39) I113T probably damaging Het
Uso1 T A 5: 92,318,606 (GRCm39) F210L probably damaging Het
Uspl1 T A 5: 149,131,131 (GRCm39) V224E probably benign Het
Zfp639 G A 3: 32,573,345 (GRCm39) V86I possibly 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
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
R6554:Spdl1 UTSW 11 34,713,397 (GRCm39) missense possibly damaging 0.82
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'- AACAGTTTCCGCTCAATATCCAGGG -3'
(R):5'- AGGAGCATCTACTTAGTGGTGGCAG -3'

Sequencing Primer
(F):5'- ACCTTGCGTGTTAAAAAGGC -3'
(R):5'- TATGGAATCGAGGCCTTCCAC -3'
Posted On 2014-01-15