Incidental Mutation 'R4845:Cables1'
ID 372139
Institutional Source Beutler Lab
Gene Symbol Cables1
Ensembl Gene ENSMUSG00000040957
Gene Name CDK5 and Abl enzyme substrate 1
Synonyms ik3-1, interactor-1 with cdk3
MMRRC Submission 042458-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.620) question?
Stock # R4845 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 11972600-12078681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12077545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 558 (R558G)
Ref Sequence ENSEMBL: ENSMUSP00000129463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046948] [ENSMUST00000171109]
AlphaFold Q9ESJ1
Predicted Effect probably damaging
Transcript: ENSMUST00000046948
AA Change: R532G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040639
Gene: ENSMUSG00000040957
AA Change: R532G

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
low complexity region 81 88 N/A INTRINSIC
low complexity region 93 102 N/A INTRINSIC
low complexity region 108 138 N/A INTRINSIC
low complexity region 184 201 N/A INTRINSIC
low complexity region 238 253 N/A INTRINSIC
CYCLIN 456 544 1.83e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171109
AA Change: R558G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129463
Gene: ENSMUSG00000040957
AA Change: R558G

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
low complexity region 81 88 N/A INTRINSIC
low complexity region 93 102 N/A INTRINSIC
low complexity region 108 138 N/A INTRINSIC
low complexity region 184 201 N/A INTRINSIC
low complexity region 238 253 N/A INTRINSIC
CYCLIN 482 570 1.83e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225430
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null females exhibited reduced fertility and uterine hyperplasia. With chronic exposure to estrogen, homozygous females develop endometrial adenocarcinoma. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 C T 17: 31,333,057 (GRCm39) S600F possibly damaging Het
Arhgap21 T A 2: 20,885,998 (GRCm39) N393I probably damaging Het
Atp5pf T A 16: 84,628,365 (GRCm39) I6F possibly damaging Het
B4galt6 A G 18: 20,821,517 (GRCm39) L337S probably benign Het
C8b G T 4: 104,649,009 (GRCm39) V308F possibly damaging Het
Chmp2b T A 16: 65,347,862 (GRCm39) Q38L probably damaging Het
Clca3b A T 3: 144,531,031 (GRCm39) I773K probably benign Het
Cnmd T C 14: 79,899,448 (GRCm39) T2A probably benign Het
Crb1 C T 1: 139,170,772 (GRCm39) D812N probably benign Het
Dnah7c T A 1: 46,832,692 (GRCm39) D3901E probably damaging Het
Dst T C 1: 34,232,208 (GRCm39) V3445A probably benign Het
Epn1 T A 7: 5,096,908 (GRCm39) I230N possibly damaging Het
Exoc6b G T 6: 84,812,119 (GRCm39) D627E probably benign Het
Exosc1 T C 19: 41,919,797 (GRCm39) K74E possibly damaging Het
Extl3 T C 14: 65,315,024 (GRCm39) T53A probably benign Het
Fam227a C T 15: 79,533,912 (GRCm39) R17H probably damaging Het
Faxc G T 4: 21,993,358 (GRCm39) W334L probably damaging Het
Gabrr3 T C 16: 59,246,833 (GRCm39) I94T probably damaging Het
Ifi203 A T 1: 173,754,595 (GRCm39) M298K probably benign Het
Igkv4-78 A T 6: 69,037,207 (GRCm39) M1K probably null Het
Iqcm G T 8: 76,472,980 (GRCm39) R273I probably damaging Het
Itga1 G T 13: 115,110,708 (GRCm39) S961* probably null Het
Jmy T A 13: 93,576,246 (GRCm39) M886L possibly damaging Het
Lrp2 T C 2: 69,339,585 (GRCm39) T1109A possibly damaging Het
Mastl A G 2: 23,030,010 (GRCm39) S239P probably benign Het
Mettl14 T A 3: 123,165,004 (GRCm39) E112V probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Musk A G 4: 58,296,679 (GRCm39) D93G probably damaging Het
Myoc C T 1: 162,475,034 (GRCm39) T195M possibly damaging Het
Ncapg2 A G 12: 116,404,208 (GRCm39) D893G probably damaging Het
Nrap C T 19: 56,339,902 (GRCm39) V908M probably benign Het
Or4a79 T C 2: 89,552,120 (GRCm39) I112V probably benign Het
Or52n5 T C 7: 104,588,570 (GRCm39) V279A possibly damaging Het
Or5g9 T A 2: 85,551,836 (GRCm39) L29* probably null Het
Orc4 T C 2: 48,799,478 (GRCm39) N333S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb8 G A 18: 37,489,771 (GRCm39) G483D probably benign Het
Pclo A T 5: 14,729,132 (GRCm39) probably benign Het
Ppm1k A T 6: 57,499,753 (GRCm39) Y174* probably null Het
Ptprq A T 10: 107,489,393 (GRCm39) S911T probably benign Het
Rp1 C A 1: 4,419,451 (GRCm39) A554S probably benign Het
Sema3f T C 9: 107,562,700 (GRCm39) Y427C probably damaging Het
Slc12a1 A T 2: 125,030,146 (GRCm39) I573F probably damaging Het
Slc17a1 A T 13: 24,060,601 (GRCm39) Y201F probably damaging Het
Slc4a7 A T 14: 14,733,803 (GRCm38) H71L probably damaging Het
Spata6l G T 19: 28,905,148 (GRCm39) D305E probably benign Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Tab1 C T 15: 80,036,964 (GRCm39) R217W probably damaging Het
Taf6 T A 5: 138,180,909 (GRCm39) Y224F possibly damaging Het
Tmc5 C G 7: 118,241,604 (GRCm39) F432L probably damaging Het
Trbc1 A T 6: 41,516,169 (GRCm39) probably benign Het
Trbv21 A G 6: 41,179,879 (GRCm39) N65S probably benign Het
Trim15 G A 17: 37,177,875 (GRCm39) P40L probably benign Het
Txnip T C 3: 96,466,916 (GRCm39) S197P probably benign Het
Vmn1r167 T A 7: 23,204,158 (GRCm39) Q286L probably benign Het
Wnt9a A G 11: 59,222,067 (GRCm39) I322V probably benign Het
Zfp879 T C 11: 50,724,672 (GRCm39) E128G probably damaging Het
Other mutations in Cables1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Cables1 APN 18 12,077,621 (GRCm39) missense probably damaging 0.99
IGL01373:Cables1 APN 18 12,021,821 (GRCm39) missense probably damaging 0.98
R0058:Cables1 UTSW 18 12,056,470 (GRCm39) missense possibly damaging 0.80
R0058:Cables1 UTSW 18 12,056,470 (GRCm39) missense possibly damaging 0.80
R2886:Cables1 UTSW 18 12,072,789 (GRCm39) missense possibly damaging 0.80
R4691:Cables1 UTSW 18 11,973,580 (GRCm39) nonsense probably null
R4964:Cables1 UTSW 18 12,074,334 (GRCm39) missense possibly damaging 0.92
R5286:Cables1 UTSW 18 12,057,884 (GRCm39) missense probably benign 0.11
R5756:Cables1 UTSW 18 12,074,410 (GRCm39) missense probably damaging 1.00
R6755:Cables1 UTSW 18 12,072,882 (GRCm39) missense probably null 1.00
R7162:Cables1 UTSW 18 12,059,423 (GRCm39) critical splice donor site probably null
R7242:Cables1 UTSW 18 11,973,064 (GRCm39) missense possibly damaging 0.93
R7410:Cables1 UTSW 18 12,074,282 (GRCm39) missense probably benign
R7411:Cables1 UTSW 18 11,973,572 (GRCm39) missense probably benign 0.01
R7965:Cables1 UTSW 18 11,973,269 (GRCm39) missense probably benign 0.06
R8765:Cables1 UTSW 18 12,056,422 (GRCm39) missense probably benign 0.01
R9167:Cables1 UTSW 18 12,039,029 (GRCm39) missense possibly damaging 0.95
Z1177:Cables1 UTSW 18 12,074,374 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTTTAAAGTGTCTGGTGCTC -3'
(R):5'- TCAGCAAGCCTCAAGTCTCC -3'

Sequencing Primer
(F):5'- TGCTCTGTTCTAGCAATGGAGAAC -3'
(R):5'- TCAAGTCTCCAGGAACTCGG -3'
Posted On 2016-03-01