Incidental Mutation 'R6859:Cacul1'
ID537825
Institutional Source Beutler Lab
Gene Symbol Cacul1
Ensembl Gene ENSMUSG00000033417
Gene NameCDK2 associated, cullin domain 1
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #R6859 (G1)
Quality Score225.009
Status Validated
Chromosome19
Chromosomal Location60524696-60581023 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60534245 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 284 (S284P)
Ref Sequence ENSEMBL: ENSMUSP00000127014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081790] [ENSMUST00000111460] [ENSMUST00000166712]
Predicted Effect probably damaging
Transcript: ENSMUST00000081790
AA Change: S314P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080480
Gene: ENSMUSG00000033417
AA Change: S314P

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
SMART Domains Protein: ENSMUSP00000107086
Gene: ENSMUSG00000033417

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 damaging
Transcript: ENSMUST00000166712
AA Change: S284P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127014
Gene: ENSMUSG00000033417
AA Change: S284P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,851,935 V788A possibly damaging Het
Abca15 A T 7: 120,402,994 K1577* probably null Het
Arhgap12 T C 18: 6,111,803 E187G probably damaging Het
Arhgef10 T A 8: 14,975,005 Y398N probably damaging Het
Baz2b C T 2: 59,901,530 V2055I probably benign Het
Btnl4 T C 17: 34,469,379 D475G probably damaging Het
C1qtnf12 T A 4: 155,965,613 F190Y probably damaging Het
Ccdc166 C A 15: 75,981,971 V87L possibly damaging Het
Ceacam13 C T 7: 18,013,107 P162S probably damaging Het
Cep250 T A 2: 155,992,526 S2124T probably benign Het
Chd5 T C 4: 152,378,207 S1372P probably damaging Het
Chil3 C A 3: 106,160,414 R145L probably benign Het
Cyp4f40 T C 17: 32,675,949 S454P probably benign Het
Defa3 T A 8: 21,288,197 C66S probably damaging Het
Fan1 T A 7: 64,372,486 N340Y probably damaging Het
Glmp C A 3: 88,328,042 N260K probably benign Het
Gsap T A 5: 21,281,018 L653Q probably damaging Het
Il18rap T A 1: 40,525,095 Y124* probably null Het
Lao1 A C 4: 118,963,751 K58T probably damaging Het
Lepr T A 4: 101,765,290 probably null Het
Mrgpra3 G C 7: 47,590,033 I48M probably benign Het
Nck2 T G 1: 43,554,351 N239K probably benign Het
Olfr1208 A G 2: 88,896,934 I221T probably benign Het
Olfr360 A T 2: 37,068,782 Y159F probably damaging Het
Olfr65 G A 7: 103,906,701 W84* probably null Het
Optc A T 1: 133,897,816 V324E possibly damaging Het
Otog T C 7: 46,273,781 S1027P probably damaging Het
Plbd2 A G 5: 120,503,342 F84L probably benign Het
Plxnb1 T C 9: 109,106,770 L110P probably damaging Het
Prnp T C 2: 131,936,788 V120A possibly damaging Het
Ptprh C A 7: 4,549,371 E965* probably null Het
Reln T C 5: 22,034,570 T900A probably damaging Het
Stt3a A G 9: 36,735,386 Y644H probably damaging Het
Sulf2 A G 2: 166,087,119 Y311H probably damaging Het
Tbc1d32 A T 10: 56,180,530 I438N probably damaging Het
Tbcd T C 11: 121,497,111 V356A possibly damaging Het
Tecta T C 9: 42,392,129 N69S probably damaging Het
Topaz1 T C 9: 122,801,958 V1618A probably benign Het
Usp48 C T 4: 137,625,276 T627I possibly damaging Het
Vcl T C 14: 20,987,075 V247A probably damaging Het
Vmn2r59 A G 7: 42,043,853 L441P probably damaging Het
Zfp869 C T 8: 69,706,525 G466D probably damaging Het
Other mutations in Cacul1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02051:Cacul1 APN 19 60543066 missense probably damaging 1.00
IGL02614:Cacul1 APN 19 60563223 missense possibly damaging 0.72
IGL03329:Cacul1 APN 19 60543051 missense probably damaging 1.00
R0012:Cacul1 UTSW 19 60564253 missense probably damaging 1.00
R0323:Cacul1 UTSW 19 60543060 missense probably benign 0.38
R0400:Cacul1 UTSW 19 60563153 splice site probably benign
R0472:Cacul1 UTSW 19 60543026 missense probably damaging 1.00
R0853:Cacul1 UTSW 19 60534226 missense probably damaging 1.00
R1169:Cacul1 UTSW 19 60580408 missense probably damaging 0.99
R1490:Cacul1 UTSW 19 60580399 missense probably damaging 0.99
R1840:Cacul1 UTSW 19 60534250 nonsense probably null
R5140:Cacul1 UTSW 19 60563181 missense probably benign 0.00
R5858:Cacul1 UTSW 19 60529044 utr 3 prime probably benign
R5888:Cacul1 UTSW 19 60537464 missense possibly damaging 0.62
R6629:Cacul1 UTSW 19 60580367 missense probably benign 0.06
R6853:Cacul1 UTSW 19 60529466 nonsense probably null
R7486:Cacul1 UTSW 19 60580430 missense probably benign 0.08
X0027:Cacul1 UTSW 19 60543052 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTCAGCAGTATGCCAGGC -3'
(R):5'- TCCATTGGAATTGCCTAGTTATCTC -3'

Sequencing Primer
(F):5'- CCAGGCCAGGCTAGAAGC -3'
(R):5'- GGAATTGCCTAGTTATCTCACTTATG -3'
Posted On2018-10-18