Incidental Mutation 'IGL01358:Clk3'
ID75615
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clk3
Ensembl Gene ENSMUSG00000032316
Gene NameCDC-like kinase 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.451) question?
Stock #IGL01358
Quality Score
Status
Chromosome9
Chromosomal Location57750624-57765860 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57754592 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 391 (T391A)
Ref Sequence ENSEMBL: ENSMUSP00000067341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043990] [ENSMUST00000065330] [ENSMUST00000137245]
Predicted Effect probably benign
Transcript: ENSMUST00000043990
SMART Domains Protein: ENSMUSP00000049146
Gene: ENSMUSG00000038957

DomainStartEndE-ValueType
LSM14 1 80 9.12e-20 SMART
Pfam:Edc3_linker 102 197 1.9e-47 PFAM
FDF 198 301 1.84e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000065330
AA Change: T391A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000067341
Gene: ENSMUSG00000032316
AA Change: T391A

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: ENSMUST00000137245
SMART Domains Protein: ENSMUSP00000123317
Gene: ENSMUSG00000038957

DomainStartEndE-ValueType
Pfam:LSM14 1 56 3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215109
Predicted Effect unknown
Transcript: ENSMUST00000215233
AA Change: T256A
Predicted Effect unknown
Transcript: ENSMUST00000215333
AA Change: T49A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216095
Predicted Effect probably benign
Transcript: ENSMUST00000217409
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A G 7: 27,636,154 Y316C probably damaging Het
Atp6v0a4 T G 6: 38,074,210 D411A probably damaging Het
Calr3 A T 8: 72,427,213 Y178* probably null Het
Ces1e A G 8: 93,214,150 L298P probably damaging Het
Cr2 A G 1: 195,159,820 I275T probably damaging Het
Cul9 G T 17: 46,538,314 P635H probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dscam A T 16: 96,610,343 S1778T possibly damaging Het
Dsg2 T A 18: 20,601,793 Y943N probably damaging Het
Eml1 A T 12: 108,514,468 T398S probably benign Het
Epha3 G A 16: 63,595,746 probably benign Het
Gm14548 A G 7: 3,895,687 V254A probably benign Het
Hacl1 A T 14: 31,626,417 M200K probably benign Het
Ighmbp2 T A 19: 3,268,817 S420C probably damaging Het
Kcnt1 T A 2: 25,916,005 I1200N probably damaging Het
Kctd21 T A 7: 97,347,374 L18Q probably damaging Het
Krt78 A C 15: 101,946,263 S1038A probably benign Het
Lrp2 C A 2: 69,552,470 probably benign Het
Lrrc41 T A 4: 116,075,587 V60D probably benign Het
Mafk T C 5: 139,800,493 S149P probably damaging Het
Mest T A 6: 30,746,331 probably benign Het
Nlrp1b G A 11: 71,181,856 T387I possibly damaging Het
Notch3 C T 17: 32,144,747 D1140N probably damaging Het
Nxph2 A G 2: 23,400,074 N146S probably damaging Het
Olfm1 T C 2: 28,229,495 C381R probably damaging Het
Olfr504 T A 7: 108,565,202 R198W probably benign Het
Olfr510 C T 7: 108,667,662 P82L possibly damaging Het
Parp11 C T 6: 127,471,563 Q48* probably null Het
Pgc T C 17: 47,730,666 V175A probably benign Het
Plxna1 G T 6: 89,322,750 T1679N probably damaging Het
Pnpt1 G T 11: 29,138,425 L229F possibly damaging Het
Ppp1r12b A T 1: 134,892,159 L282Q probably damaging Het
Rag2 C A 2: 101,630,020 A225D possibly damaging Het
Ralgps1 T C 2: 33,143,049 D456G possibly damaging Het
Rasgrf2 T A 13: 91,982,630 T170S probably benign Het
Rel C T 11: 23,761,155 S4N probably benign Het
Rims3 C T 4: 120,891,503 S307F possibly damaging Het
Rnf123 A G 9: 108,069,182 L290P probably damaging Het
Rtn4r G T 16: 18,151,396 M229I possibly damaging Het
Rusc2 G A 4: 43,426,116 R1407Q probably damaging Het
Sec23ip A T 7: 128,752,797 Q259L possibly damaging Het
Slc24a4 G A 12: 102,223,635 C204Y probably benign Het
Slc27a3 T C 3: 90,386,552 T542A probably damaging Het
Smarcal1 A T 1: 72,616,565 I668F possibly damaging Het
Snap91 C A 9: 86,806,560 V311F probably damaging Het
Sp8 T A 12: 118,848,970 S187T probably damaging Het
Tcerg1 T C 18: 42,524,277 S275P unknown Het
Vwce T A 19: 10,664,409 V833D possibly damaging Het
Zbtb8b A G 4: 129,433,259 S38P probably damaging Het
Zfp598 T C 17: 24,681,424 probably benign Het
Zkscan4 G A 13: 21,484,305 E309K possibly damaging Het
Other mutations in Clk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:Clk3 APN 9 57751763 missense probably damaging 1.00
IGL02506:Clk3 APN 9 57754644 nonsense probably null
R0062:Clk3 UTSW 9 57752166 missense probably damaging 1.00
R0062:Clk3 UTSW 9 57752166 missense probably damaging 1.00
R0731:Clk3 UTSW 9 57751126 unclassified probably benign
R1944:Clk3 UTSW 9 57765186 missense probably benign 0.27
R2060:Clk3 UTSW 9 57751117 missense probably damaging 1.00
R2362:Clk3 UTSW 9 57754619 missense possibly damaging 0.90
R4380:Clk3 UTSW 9 57751792 missense probably damaging 1.00
R5395:Clk3 UTSW 9 57753339 missense probably damaging 1.00
R5422:Clk3 UTSW 9 57765438 missense probably benign
R6652:Clk3 UTSW 9 57761795 missense probably damaging 0.99
R6828:Clk3 UTSW 9 57760849 missense possibly damaging 0.87
R6933:Clk3 UTSW 9 57761849 missense probably damaging 1.00
R7343:Clk3 UTSW 9 57760956 missense probably damaging 0.97
Posted On2013-10-07