Incidental Mutation 'R5095:Csnk1a1'
ID395851
Institutional Source Beutler Lab
Gene Symbol Csnk1a1
Ensembl Gene ENSMUSG00000024576
Gene Namecasein kinase 1, alpha 1
Synonyms4632404G05Rik, CK1a, 5430427P18Rik, 2610208K14Rik
MMRRC Submission 042684-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5095 (G1)
Quality Score225
Status Validated
Chromosome18
Chromosomal Location61555274-61590061 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 61575476 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 175 (Y175N)
Ref Sequence ENSEMBL: ENSMUSP00000131687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115246] [ENSMUST00000163205] [ENSMUST00000165123] [ENSMUST00000165721] [ENSMUST00000166990] [ENSMUST00000167187] [ENSMUST00000170862]
Predicted Effect probably damaging
Transcript: ENSMUST00000115246
AA Change: Y175N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110901
Gene: ENSMUSG00000024576
AA Change: Y175N

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 17 281 1.7e-15 PFAM
Pfam:Pkinase 17 292 3.7e-39 PFAM
low complexity region 302 320 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163205
AA Change: Y175N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127144
Gene: ENSMUSG00000024576
AA Change: Y175N

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 17 281 2.6e-15 PFAM
Pfam:Pkinase 17 292 5.6e-39 PFAM
low complexity region 302 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164253
SMART Domains Protein: ENSMUSP00000129295
Gene: ENSMUSG00000024576

DomainStartEndE-ValueType
PDB:4JJR|B 2 114 9e-52 PDB
SCOP:d1csn__ 6 114 5e-26 SMART
low complexity region 115 140 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165123
AA Change: Y175N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128871
Gene: ENSMUSG00000024576
AA Change: Y175N

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 17 281 1.3e-15 PFAM
Pfam:Pkinase 17 292 2.9e-39 PFAM
low complexity region 302 320 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165721
AA Change: Y175N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132083
Gene: ENSMUSG00000024576
AA Change: Y175N

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 17 281 1.5e-15 PFAM
Pfam:Pkinase 17 293 3.2e-39 PFAM
low complexity region 302 327 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166990
AA Change: Y175N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131687
Gene: ENSMUSG00000024576
AA Change: Y175N

DomainStartEndE-ValueType
Pfam:Pkinase 17 263 1e-28 PFAM
Pfam:Pkinase_Tyr 17 281 1.1e-15 PFAM
low complexity region 302 327 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167187
AA Change: Y203N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127463
Gene: ENSMUSG00000024576
AA Change: Y203N

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 17 309 1.5e-12 PFAM
Pfam:Pkinase 17 319 1e-37 PFAM
low complexity region 330 348 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170862
AA Change: Y203N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127265
Gene: ENSMUSG00000024576
AA Change: Y203N

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 17 309 1.6e-12 PFAM
Pfam:Pkinase 17 320 1.1e-37 PFAM
low complexity region 330 355 N/A INTRINSIC
Meta Mutation Damage Score 0.386 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021A07Rik G C 10: 21,425,593 noncoding transcript Het
4932415D10Rik G T 10: 82,283,667 A4503E probably damaging Het
Adgrv1 C T 13: 81,095,487 V6265I probably benign Het
Agbl1 G A 7: 76,720,133 G660D probably damaging Het
Arap2 A G 5: 62,654,049 Y1140H probably damaging Het
Atp6v1c1 T C 15: 38,679,413 probably null Het
C1rb A T 6: 124,580,313 R470W possibly damaging Het
Caskin2 T C 11: 115,800,738 T1074A probably benign Het
Cdh19 T A 1: 110,954,661 T34S probably benign Het
F2 CAGAAAG CAG 2: 91,634,957 probably benign Het
Flt4 T A 11: 49,627,159 V342D possibly damaging Het
Frmd5 A T 2: 121,548,921 C394S possibly damaging Het
Gm5414 T G 15: 101,624,038 N550T probably benign Het
Hcn3 C A 3: 89,149,923 R456L probably damaging Het
Htt T C 5: 34,824,395 V893A possibly damaging Het
Ift46 A G 9: 44,786,849 D203G probably damaging Het
Itga10 G T 3: 96,648,164 V145L probably benign Het
Kcnh6 A G 11: 106,017,254 D232G possibly damaging Het
Mbtd1 T C 11: 93,929,671 S431P probably damaging Het
Mmp27 T A 9: 7,572,158 W120R probably damaging Het
Mmp27 A T 9: 7,579,000 D418V probably damaging Het
Myo5a A G 9: 75,152,020 D510G probably damaging Het
Myo5a A T 9: 75,184,389 K1179* probably null Het
Neto1 T C 18: 86,398,281 S38P probably benign Het
Nos3 A G 5: 24,368,918 probably benign Het
Nuggc C T 14: 65,635,090 R512* probably null Het
Oas1e T A 5: 120,794,264 K105* probably null Het
Olfr135 A C 17: 38,208,317 E24A possibly damaging Het
Olfr512 T C 7: 108,713,812 F141S probably damaging Het
Omd T A 13: 49,589,698 S75T possibly damaging Het
Pbrm1 A G 14: 31,032,530 N190S probably benign Het
Picalm T C 7: 90,170,633 F85L probably damaging Het
Polg A G 7: 79,460,300 V360A possibly damaging Het
Prex1 T C 2: 166,581,921 D1017G probably damaging Het
Prss56 G C 1: 87,188,111 R569P probably damaging Het
Rab6b G A 9: 103,140,384 G25R probably damaging Het
Rdh10 A G 1: 16,131,385 T332A probably benign Het
Rheb A T 5: 24,807,641 M115K probably benign Het
Rnf149 A T 1: 39,555,656 D321E probably benign Het
Rps28 C T 17: 33,823,203 probably null Het
Slc6a20b A G 9: 123,595,054 V616A probably benign Het
Smarcc2 A G 10: 128,469,300 K300R probably damaging Het
Sparcl1 C T 5: 104,085,763 M573I probably damaging Het
Srp68 C T 11: 116,248,747 V459M probably damaging Het
Stxbp4 C T 11: 90,548,975 V346I probably benign Het
Syne2 A G 12: 75,952,826 D2331G probably damaging Het
Ttn A T 2: 76,734,192 Y28534N probably damaging Het
Usp44 A T 10: 93,846,845 I386F possibly damaging Het
Vmn2r15 T C 5: 109,288,451 probably null Het
Vmn2r72 T A 7: 85,737,853 L834F probably damaging Het
Vps13b T A 15: 35,923,202 I3741K probably damaging Het
Zdbf2 A G 1: 63,309,073 T2204A possibly damaging Het
Zfp607b T A 7: 27,693,636 probably benign Het
Other mutations in Csnk1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Csnk1a1 APN 18 61575450 missense probably damaging 1.00
IGL00984:Csnk1a1 APN 18 61575553 splice site probably benign
IGL03107:Csnk1a1 APN 18 61568305 missense probably damaging 1.00
R0513:Csnk1a1 UTSW 18 61576547 missense probably damaging 0.99
R1068:Csnk1a1 UTSW 18 61569563 critical splice donor site probably null
R1511:Csnk1a1 UTSW 18 61585250 intron probably benign
R1855:Csnk1a1 UTSW 18 61575427 unclassified probably null
R2944:Csnk1a1 UTSW 18 61578689 missense probably benign 0.02
R4426:Csnk1a1 UTSW 18 61585310 intron probably benign
R4893:Csnk1a1 UTSW 18 61585301 intron probably benign
R5000:Csnk1a1 UTSW 18 61578769 missense probably damaging 1.00
R5070:Csnk1a1 UTSW 18 61555781 missense probably benign 0.02
R6523:Csnk1a1 UTSW 18 61555758 missense probably benign 0.01
R6601:Csnk1a1 UTSW 18 61578758 missense probably damaging 1.00
R7425:Csnk1a1 UTSW 18 61585259 missense unknown
X0028:Csnk1a1 UTSW 18 61578632 intron probably null
X0064:Csnk1a1 UTSW 18 61569564 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGGCAGATGAAGTTACACGC -3'
(R):5'- TTAGATCCTCAGCCACGAAGG -3'

Sequencing Primer
(F):5'- GCTGTTACTTACTGGTGAAGAATAG -3'
(R):5'- GCCACGAAGGACCCTTAG -3'
Posted On2016-06-21