Incidental Mutation 'R6629:Cacul1'
ID 525024
Institutional Source Beutler Lab
Gene Symbol Cacul1
Ensembl Gene ENSMUSG00000033417
Gene Name CDK2 associated, cullin domain 1
Synonyms 2700078E11Rik, 2810417M16Rik, 9830127L17Rik, D130033C15Rik
MMRRC Submission 044751-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R6629 (G1)
Quality Score 203.009
Status Validated
Chromosome 19
Chromosomal Location 60513143-60569420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60568805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 118 (S118G)
Ref Sequence ENSEMBL: ENSMUSP00000107086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081790] [ENSMUST00000111460] [ENSMUST00000166712]
AlphaFold Q8R0X2
Predicted Effect probably benign
Transcript: ENSMUST00000081790
AA Change: S118G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000080480
Gene: ENSMUSG00000033417
AA Change: S118G

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 35 56 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
low complexity region 104 128 N/A INTRINSIC
Pfam:Cullin 145 346 2.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111460
AA Change: S118G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107086
Gene: ENSMUSG00000033417
AA Change: S118G

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 35 56 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
low complexity region 104 128 N/A INTRINSIC
Pfam:Cullin 145 294 2.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166712
AA Change: S118G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127014
Gene: ENSMUSG00000033417
AA Change: S118G

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 35 56 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
low complexity region 104 128 N/A INTRINSIC
Pfam:Cullin 145 287 1.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174914
Meta Mutation Damage Score 0.0812 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn3 A T 12: 101,903,665 (GRCm39) M180K probably benign Het
Bnip2 G T 9: 69,909,393 (GRCm39) R236L probably null Het
Boc T C 16: 44,312,724 (GRCm39) D582G probably benign Het
Ccdc192 T C 18: 57,863,852 (GRCm39) S219P possibly damaging Het
Cpa2 A T 6: 30,554,193 (GRCm39) D271V probably damaging Het
Cubn G A 2: 13,435,683 (GRCm39) T1091M probably damaging Het
Dlgap2 A G 8: 14,881,465 (GRCm39) T846A probably benign Het
Eif5 G T 12: 111,510,042 (GRCm39) A329S probably damaging Het
Fam136b-ps G A 15: 31,276,962 (GRCm39) probably benign Het
Gnrhr A G 5: 86,330,168 (GRCm39) V284A probably benign Het
Grin3a A G 4: 49,844,991 (GRCm39) S31P probably damaging Het
Hectd2 T C 19: 36,592,938 (GRCm39) L701P probably damaging Het
Hook1 C T 4: 95,889,507 (GRCm39) T241I probably benign Het
Kif5a A G 10: 127,084,123 (GRCm39) V52A probably damaging Het
Lasp1 T A 11: 97,697,722 (GRCm39) Y11* probably null Het
Meltf A G 16: 31,703,894 (GRCm39) Y207C probably damaging Het
Mllt3 ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT 4: 87,759,504 (GRCm39) probably benign Het
Nek1 A G 8: 61,507,367 (GRCm39) probably null Het
Notch2 C A 3: 98,028,197 (GRCm39) N969K possibly damaging Het
Or4c116 T A 2: 88,942,506 (GRCm39) M117L probably benign Het
Pcnx2 C T 8: 126,617,851 (GRCm39) G135R probably benign Het
Pla2g4f A T 2: 120,138,723 (GRCm39) L242Q probably damaging Het
Plcxd2 T G 16: 45,785,470 (GRCm39) T312P probably damaging Het
Prpf4 G A 4: 62,336,097 (GRCm39) V275I possibly damaging Het
Prpf8 G A 11: 75,386,252 (GRCm39) probably null Het
Pxn T C 5: 115,692,121 (GRCm39) L401P probably damaging Het
Rab44 A T 17: 29,354,754 (GRCm39) probably benign Het
Rfx6 C A 10: 51,601,586 (GRCm39) T669K probably benign Het
Rgs16 A G 1: 153,619,420 (GRCm39) N142S probably damaging Het
Rhobtb1 A G 10: 69,106,146 (GRCm39) E237G possibly damaging Het
Rsbn1 A C 3: 103,835,757 (GRCm39) D265A probably damaging Het
Rufy4 A G 1: 74,171,526 (GRCm39) probably null Het
Slc4a1 C A 11: 102,252,048 (GRCm39) E19* probably null Het
Tctn1 A G 5: 122,380,731 (GRCm39) S526P probably damaging Het
Tspear A T 10: 77,706,343 (GRCm39) H371L probably benign Het
Vmn1r34 A T 6: 66,614,499 (GRCm39) F80I probably benign Het
Wdr75 G A 1: 45,851,216 (GRCm39) S264N probably damaging Het
Zfp652 A T 11: 95,654,616 (GRCm39) N340Y probably damaging Het
Zp3 A G 5: 136,016,190 (GRCm39) T306A probably benign Het
Other mutations in Cacul1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02051:Cacul1 APN 19 60,531,504 (GRCm39) missense probably damaging 1.00
IGL02614:Cacul1 APN 19 60,551,661 (GRCm39) missense possibly damaging 0.72
IGL03329:Cacul1 APN 19 60,531,489 (GRCm39) missense probably damaging 1.00
R0012:Cacul1 UTSW 19 60,552,691 (GRCm39) missense probably damaging 1.00
R0323:Cacul1 UTSW 19 60,531,498 (GRCm39) missense probably benign 0.38
R0400:Cacul1 UTSW 19 60,551,591 (GRCm39) splice site probably benign
R0472:Cacul1 UTSW 19 60,531,464 (GRCm39) missense probably damaging 1.00
R0853:Cacul1 UTSW 19 60,522,664 (GRCm39) missense probably damaging 1.00
R1169:Cacul1 UTSW 19 60,568,846 (GRCm39) missense probably damaging 0.99
R1490:Cacul1 UTSW 19 60,568,837 (GRCm39) missense probably damaging 0.99
R1840:Cacul1 UTSW 19 60,522,688 (GRCm39) nonsense probably null
R5140:Cacul1 UTSW 19 60,551,619 (GRCm39) missense probably benign 0.00
R5858:Cacul1 UTSW 19 60,517,482 (GRCm39) utr 3 prime probably benign
R5888:Cacul1 UTSW 19 60,525,902 (GRCm39) missense possibly damaging 0.62
R6853:Cacul1 UTSW 19 60,517,904 (GRCm39) nonsense probably null
R6859:Cacul1 UTSW 19 60,522,683 (GRCm39) missense probably damaging 1.00
R7486:Cacul1 UTSW 19 60,568,868 (GRCm39) missense probably benign 0.08
R8262:Cacul1 UTSW 19 60,517,475 (GRCm39) makesense probably null
R8358:Cacul1 UTSW 19 60,551,673 (GRCm39) missense possibly damaging 0.75
R8889:Cacul1 UTSW 19 60,568,960 (GRCm39) missense probably damaging 0.99
R9357:Cacul1 UTSW 19 60,533,942 (GRCm39) missense probably benign 0.00
R9555:Cacul1 UTSW 19 60,533,887 (GRCm39) nonsense probably null
R9755:Cacul1 UTSW 19 60,533,955 (GRCm39) missense probably damaging 0.98
X0027:Cacul1 UTSW 19 60,531,490 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTGTAACAGGCAACACTGG -3'
(R):5'- CTACGAGGCAATGATGGACG -3'

Sequencing Primer
(F):5'- GATACTGGCCGCAGACAC -3'
(R):5'- TCACAACAACTGGGAGGCCG -3'
Posted On 2018-06-22