Incidental Mutation 'IGL02694:Spdl1'
ID 303854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spdl1
Ensembl Gene ENSMUSG00000069910
Gene Name spindle apparatus coiled-coil protein 1
Synonyms 2600001J17Rik, Ccdc99, 1700018I02Rik, 2810049B11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # IGL02694
Quality Score
Status
Chromosome 11
Chromosomal Location 34700017-34724468 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34704448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 462 (I462V)
Ref Sequence ENSEMBL: ENSMUSP00000090882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093191]
AlphaFold Q923A2
Predicted Effect probably benign
Transcript: ENSMUST00000093191
AA Change: I462V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000090882
Gene: ENSMUSG00000069910
AA Change: I462V

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
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 A G 7: 97,866,084 (GRCm39) I213T probably benign Het
Alox8 T A 11: 69,077,455 (GRCm39) T432S probably damaging Het
Col4a3 T C 1: 82,688,515 (GRCm39) probably benign Het
Cyp2c54 A G 19: 40,035,987 (GRCm39) Y308H possibly damaging Het
Dscam A G 16: 96,394,476 (GRCm39) V1942A probably benign Het
F11 T C 8: 45,705,196 (GRCm39) Y115C probably damaging Het
Fam13b A G 18: 34,584,259 (GRCm39) probably null Het
Gykl1 A G 18: 52,827,257 (GRCm39) H155R probably benign Het
Lmo7 T A 14: 102,124,606 (GRCm39) V355D probably damaging Het
Lrtm2 T A 6: 119,297,846 (GRCm39) D65V possibly damaging Het
Ly6g6f C T 17: 35,300,144 (GRCm39) V235M possibly damaging Het
Mlxipl G A 5: 135,152,872 (GRCm39) probably null Het
Or11j4 A G 14: 50,630,257 (GRCm39) I15V probably benign Het
Or13a20 A G 7: 140,232,093 (GRCm39) N67S probably damaging Het
Or14a256 C T 7: 86,265,518 (GRCm39) V112I probably benign Het
Ppp2r1a A G 17: 21,171,702 (GRCm39) probably benign Het
Psmb2 A G 4: 126,603,351 (GRCm39) N193S probably benign Het
Rassf2 A T 2: 131,851,641 (GRCm39) Y34N possibly damaging Het
Ryr2 A G 13: 11,620,075 (GRCm39) F3841L probably damaging Het
Skint2 A G 4: 112,473,792 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,459 (GRCm39) M152V probably benign Het
Tlk2 A G 11: 105,112,061 (GRCm39) E138G probably benign Het
Vmn1r89 A G 7: 12,954,056 (GRCm39) E196G probably benign Het
Zfp142 A G 1: 74,609,307 (GRCm39) L1496P probably damaging Het
Zfp689 T C 7: 127,047,573 (GRCm39) D94G possibly damaging Het
Zfp944 A G 17: 22,558,899 (GRCm39) V116A probably benign Het
Other mutations in Spdl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02417:Spdl1 APN 11 34,704,181 (GRCm39) missense probably benign 0.27
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
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
Posted On 2015-04-16