Incidental Mutation 'IGL02677:Csnka2ip'
ID303199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csnka2ip
Ensembl Gene ENSMUSG00000068167
Gene Namecasein kinase 2, alpha prime interacting protein
SynonymsCkt2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #IGL02677
Quality Score
Status
Chromosome16
Chromosomal Location64477810-64602408 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64478312 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 119 (L119P)
Ref Sequence ENSEMBL: ENSMUSP00000086692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089279] [ENSMUST00000209382]
Predicted Effect probably damaging
Transcript: ENSMUST00000089279
AA Change: L119P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086692
Gene: ENSMUSG00000068167
AA Change: L119P

DomainStartEndE-ValueType
low complexity region 164 182 N/A INTRINSIC
low complexity region 186 201 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000209382
AA Change: L563P
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,501,095 Y84* probably null Het
4931406P16Rik T A 7: 34,242,409 probably benign Het
Adam5 A G 8: 24,812,379 probably benign Het
Aipl1 T C 11: 72,029,396 E282G possibly damaging Het
Akp3 A G 1: 87,125,272 D61G probably damaging Het
Anpep A G 7: 79,838,730 S451P probably damaging Het
Ddx19a T C 8: 110,989,609 E53G probably benign Het
Ddx50 C T 10: 62,616,293 R116Q unknown Het
Ddx60 A T 8: 61,988,132 E1078D probably damaging Het
Dpy19l1 T C 9: 24,485,072 D116G probably damaging Het
Dsg4 A G 18: 20,464,876 T668A possibly damaging Het
Dspp A G 5: 104,175,977 T329A possibly damaging Het
Eftud2 T C 11: 102,846,614 T554A probably damaging Het
Enpp1 T C 10: 24,679,185 probably benign Het
Ext2 A T 2: 93,707,245 F599I probably damaging Het
Fahd1 A T 17: 24,849,530 I191N probably damaging Het
Fcrls A T 3: 87,259,387 S100T probably benign Het
Fras1 T A 5: 96,545,024 C181S probably damaging Het
Gcnt4 A G 13: 96,947,233 I346V probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Kcnma1 A G 14: 23,463,156 Y392H probably damaging Het
Klc2 T C 19: 5,111,668 Y298C probably damaging Het
Lamb3 G A 1: 193,339,522 V1011I probably benign Het
Ldb1 T C 19: 46,036,155 probably benign Het
Mcph1 A G 8: 18,625,593 K11E probably damaging Het
Myc A G 15: 61,989,664 H374R probably damaging Het
Myom1 A G 17: 71,084,349 Y853C probably damaging Het
Olfr1282 A T 2: 111,335,802 I92N probably damaging Het
Pakap C T 4: 57,856,263 P572S probably benign Het
Pclo A G 5: 14,676,929 probably benign Het
Pde3a G A 6: 141,405,172 probably benign Het
Per1 T C 11: 69,106,660 V887A probably benign Het
Prokr1 G A 6: 87,588,368 probably benign Het
Rb1cc1 A G 1: 6,249,419 I1021V probably benign Het
Ryr1 T C 7: 29,110,608 E344G probably benign Het
Sec24c A T 14: 20,689,642 D529V probably damaging Het
Slc1a6 T C 10: 78,789,064 V101A probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tap2 G A 17: 34,212,047 V374M probably benign Het
Tex15 T A 8: 33,571,080 D179E probably benign Het
Tmem8b T C 4: 43,686,092 L241P probably damaging Het
Tmprss11g T C 5: 86,492,290 D160G probably benign Het
Trim30a C T 7: 104,435,913 C30Y probably damaging Het
Ttn A G 2: 76,771,496 probably benign Het
Ush2a A G 1: 188,734,685 R2849G probably damaging Het
Usp5 A G 6: 124,819,426 V570A probably damaging Het
Vipr1 T C 9: 121,660,283 probably benign Het
Zc2hc1c A C 12: 85,290,076 D169A probably benign Het
Other mutations in Csnka2ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02039:Csnka2ip APN 16 64478594 missense probably damaging 0.99
R0593:Csnka2ip UTSW 16 64478612 missense probably damaging 0.99
R1075:Csnka2ip UTSW 16 64477947 nonsense probably null
R1698:Csnka2ip UTSW 16 64478059 nonsense probably null
R1815:Csnka2ip UTSW 16 64478492 missense probably benign
R6446:Csnka2ip UTSW 16 64479381 nonsense probably null
R6709:Csnka2ip UTSW 16 64478569 missense possibly damaging 0.92
R6937:Csnka2ip UTSW 16 64478695 utr 5 prime probably benign
R6999:Csnka2ip UTSW 16 64478570 missense unknown
R7013:Csnka2ip UTSW 16 64478417 missense unknown
R7103:Csnka2ip UTSW 16 64478757 missense unknown
Posted On2015-04-16