Incidental Mutation 'R8395:Clk3'
ID 647572
Institutional Source Beutler Lab
Gene Symbol Clk3
Ensembl Gene ENSMUSG00000032316
Gene Name CDC-like kinase 3
Synonyms
MMRRC Submission 067759-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.500) question?
Stock # R8395 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 57657904-57672397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57672445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 119 (V119E)
Ref Sequence ENSEMBL: ENSMUSP00000067341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065330] [ENSMUST00000215158]
AlphaFold O35492
Predicted Effect probably benign
Transcript: ENSMUST00000065330
AA Change: V119E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067341
Gene: ENSMUSG00000032316
AA Change: V119E

DomainStartEndE-ValueType
low complexity region 57 73 N/A INTRINSIC
low complexity region 122 147 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
low complexity region 181 199 N/A INTRINSIC
low complexity region 234 252 N/A INTRINSIC
low complexity region 261 283 N/A INTRINSIC
S_TKc 304 620 5.56e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000215158
Predicted Effect probably benign
Transcript: ENSMUST00000215233
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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 belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,218,280 (GRCm39) E352G possibly damaging Het
Ascc3 T C 10: 50,525,400 (GRCm39) F532L possibly damaging Het
Bckdk G A 7: 127,507,139 (GRCm39) V328I probably benign Het
Cenpu T C 8: 47,007,084 (GRCm39) Y26H probably benign Het
Cnn2 A G 10: 79,828,293 (GRCm39) N90S probably benign Het
Dlk2 T C 17: 46,611,969 (GRCm39) I78T probably damaging Het
Ercc8 G T 13: 108,323,788 (GRCm39) E367* probably null Het
Gbp9 A T 5: 105,228,069 (GRCm39) I571K probably damaging Het
Gm3404 T C 5: 146,462,724 (GRCm39) I29T possibly damaging Het
Gpat4 GTGTT GT 8: 23,669,498 (GRCm39) probably benign Het
Heatr5a A G 12: 51,962,961 (GRCm39) S74P Het
Htr6 T G 4: 138,789,078 (GRCm39) M326L possibly damaging Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Ippk A G 13: 49,615,096 (GRCm39) E493G probably damaging Het
Kiz A G 2: 146,794,949 (GRCm39) N603S possibly damaging Het
Limch1 A T 5: 67,126,394 (GRCm39) K7N probably damaging Het
Lrp1b C T 2: 40,547,411 (GRCm39) C4257Y Het
Map4k5 C G 12: 69,877,203 (GRCm39) R381T probably null Het
Map9 A G 3: 82,289,276 (GRCm39) I455V probably benign Het
Mpped1 T C 15: 83,684,257 (GRCm39) V93A probably damaging Het
Myh10 T C 11: 68,682,842 (GRCm39) L1129P probably damaging Het
Neb T A 2: 52,065,645 (GRCm39) M6196L probably benign Het
Neb C A 2: 52,147,806 (GRCm39) V2738F probably damaging Het
Or10ad1 A G 15: 98,105,500 (GRCm39) V255A probably benign Het
Or8k18 G A 2: 86,085,878 (GRCm39) S53F possibly damaging Het
Sgf29 T A 7: 126,271,837 (GRCm39) C287* probably null Het
Siglece A G 7: 43,305,523 (GRCm39) V398A probably benign Het
Slc43a1 T C 2: 84,671,266 (GRCm39) L67P probably damaging Het
Slco2a1 A G 9: 102,954,239 (GRCm39) H470R probably benign Het
Spata31d1e A G 13: 59,889,540 (GRCm39) V760A probably benign Het
Syngr1 T C 15: 79,997,445 (GRCm39) S188P probably benign Het
Trpm4 T C 7: 44,958,634 (GRCm39) D885G probably benign Het
Ubd A T 17: 37,506,249 (GRCm39) Q45L probably damaging Het
Unc45a A T 7: 79,976,080 (GRCm39) C800S probably benign Het
Vmn2r112 A G 17: 22,837,587 (GRCm39) T683A possibly damaging Het
Vmn2r25 T A 6: 123,799,982 (GRCm39) T787S possibly damaging Het
Vmn2r85 G A 10: 130,261,797 (GRCm39) P180L probably damaging Het
Vtcn1 T C 3: 100,791,070 (GRCm39) F36S probably benign Het
Wdr86 A G 5: 24,935,187 (GRCm39) L52P probably damaging Het
Xpo4 A T 14: 57,885,924 (GRCm39) S43T probably benign Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Other mutations in Clk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Clk3 APN 9 57,661,875 (GRCm39) missense probably damaging 1.00
IGL01654:Clk3 APN 9 57,659,046 (GRCm39) missense probably damaging 1.00
IGL02506:Clk3 APN 9 57,661,927 (GRCm39) nonsense probably null
R0062:Clk3 UTSW 9 57,659,449 (GRCm39) missense probably damaging 1.00
R0062:Clk3 UTSW 9 57,659,449 (GRCm39) missense probably damaging 1.00
R0731:Clk3 UTSW 9 57,658,409 (GRCm39) unclassified probably benign
R1944:Clk3 UTSW 9 57,672,469 (GRCm39) missense probably benign 0.27
R2060:Clk3 UTSW 9 57,658,400 (GRCm39) missense probably damaging 1.00
R2362:Clk3 UTSW 9 57,661,902 (GRCm39) missense possibly damaging 0.90
R4380:Clk3 UTSW 9 57,659,075 (GRCm39) missense probably damaging 1.00
R5395:Clk3 UTSW 9 57,660,622 (GRCm39) missense probably damaging 1.00
R5422:Clk3 UTSW 9 57,672,721 (GRCm39) missense probably benign
R6652:Clk3 UTSW 9 57,669,078 (GRCm39) missense probably damaging 0.99
R6828:Clk3 UTSW 9 57,668,132 (GRCm39) missense possibly damaging 0.87
R6933:Clk3 UTSW 9 57,669,132 (GRCm39) missense probably damaging 1.00
R7343:Clk3 UTSW 9 57,668,239 (GRCm39) missense probably damaging 0.97
R7585:Clk3 UTSW 9 57,669,119 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATAGGTCCAAGCCGAGACC -3'
(R):5'- AGAACAATGCCGGTCCTCTC -3'

Sequencing Primer
(F):5'- AAGCCGAGACCCGACCG -3'
(R):5'- GGTTCCTCCTTTAGGCCCAGAG -3'
Posted On 2020-09-02