Incidental Mutation 'IGL01657:Csnk1g2'
ID103067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csnk1g2
Ensembl Gene ENSMUSG00000003345
Gene Namecasein kinase 1, gamma 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01657
Quality Score
Status
Chromosome10
Chromosomal Location80622838-80640749 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80639629 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 378 (H378R)
Ref Sequence ENSEMBL: ENSMUSP00000078706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003434] [ENSMUST00000079773] [ENSMUST00000085435] [ENSMUST00000126980]
Predicted Effect probably benign
Transcript: ENSMUST00000003434
SMART Domains Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344

DomainStartEndE-ValueType
low complexity region 27 68 N/A INTRINSIC
BTB 115 215 9.96e-25 SMART
BACK 220 328 6.36e-13 SMART
Pfam:PHR 373 522 7.1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079773
AA Change: H378R

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000078706
Gene: ENSMUSG00000003345
AA Change: H378R

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
Pfam:Pkinase 126 329 2e-19 PFAM
Pfam:Pkinase_Tyr 128 329 6.2e-10 PFAM
Pfam:CK1gamma_C 382 412 4e-11 PFAM
low complexity region 425 436 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085435
AA Change: H351R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000082560
Gene: ENSMUSG00000003345
AA Change: H351R

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
Pfam:Pkinase_Tyr 46 308 1.3e-14 PFAM
Pfam:Pkinase 46 313 7.6e-35 PFAM
Pfam:CK1gamma_C 354 385 1.2e-11 PFAM
low complexity region 398 409 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126980
SMART Domains Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344

DomainStartEndE-ValueType
low complexity region 12 53 N/A INTRINSIC
BTB 100 200 9.96e-25 SMART
BACK 205 313 6.36e-13 SMART
Pfam:PHR 358 508 4.3e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220025
Predicted Effect probably benign
Transcript: ENSMUST00000220163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220431
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,493 F90L probably benign Het
Anapc4 T A 5: 52,864,626 Y683* probably null Het
Astn2 T G 4: 65,651,949 D773A probably damaging Het
Atp2b3 T C X: 73,545,360 probably benign Het
Atp8b5 T C 4: 43,291,693 M22T probably benign Het
Birc6 T A 17: 74,660,611 L4169H probably damaging Het
Cdc42bpa T C 1: 180,111,866 V81A probably benign Het
Clcn2 A T 16: 20,713,619 C80S probably damaging Het
Clu C T 14: 65,979,672 A318V possibly damaging Het
Decr2 T A 17: 26,082,952 D268V probably damaging Het
Dpp3 T C 19: 4,918,304 T247A possibly damaging Het
Eif4g1 A G 16: 20,682,216 N774D possibly damaging Het
Epha4 A T 1: 77,426,838 V344E probably damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ggcx T A 6: 72,429,958 probably null Het
Gm1965 C T 6: 89,146,666 noncoding transcript Het
Gmnn T C 13: 24,753,704 E101G probably damaging Het
Grik2 C T 10: 49,527,986 probably null Het
H2-M11 T A 17: 36,547,573 D86E probably benign Het
Il6st T A 13: 112,481,543 W164R probably damaging Het
Ilvbl G T 10: 78,576,768 V108L possibly damaging Het
Klk10 A G 7: 43,781,589 K19E possibly damaging Het
Mbd4 G T 6: 115,849,637 T131N probably damaging Het
Ncapd3 T C 9: 27,071,824 V956A possibly damaging Het
Nif3l1 A C 1: 58,455,612 T247P probably damaging Het
Nrcam T C 12: 44,559,800 V443A probably damaging Het
Olfr1260 A G 2: 89,977,877 Y33C probably damaging Het
Pigk T A 3: 152,722,520 H61Q probably damaging Het
Pla2g4d C A 2: 120,275,287 V431F possibly damaging Het
Pxt1 A T 17: 28,934,804 H18Q possibly damaging Het
Rpusd4 T C 9: 35,273,461 probably benign Het
Slc22a18 T G 7: 143,499,100 L354R probably damaging Het
Slc26a10 A G 10: 127,175,034 V443A probably damaging Het
Smpx A G X: 157,714,680 probably benign Het
Sptan1 A G 2: 30,018,479 S1751G probably benign Het
Ush2a C T 1: 188,826,461 T3629I probably benign Het
Vcan C T 13: 89,690,586 V2280M probably damaging Het
Vmn1r30 T C 6: 58,435,634 E71G probably benign Het
Vmn2r100 A T 17: 19,525,916 I446F possibly damaging Het
Vmn2r75 A T 7: 86,164,247 V449D probably damaging Het
Other mutations in Csnk1g2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Csnk1g2 APN 10 80634647 unclassified probably benign
IGL01920:Csnk1g2 APN 10 80638428 missense probably damaging 1.00
IGL02887:Csnk1g2 APN 10 80638535 missense probably damaging 1.00
R2845:Csnk1g2 UTSW 10 80638604 missense probably damaging 1.00
R4135:Csnk1g2 UTSW 10 80638296 missense possibly damaging 0.84
R4626:Csnk1g2 UTSW 10 80639814 missense probably damaging 0.98
R4717:Csnk1g2 UTSW 10 80637915 missense probably benign 0.36
R4729:Csnk1g2 UTSW 10 80639204 missense probably benign 0.01
R5546:Csnk1g2 UTSW 10 80638398 missense probably benign 0.36
R6000:Csnk1g2 UTSW 10 80638944 missense probably damaging 0.99
R6415:Csnk1g2 UTSW 10 80638296 missense possibly damaging 0.84
R6449:Csnk1g2 UTSW 10 80640072 missense probably damaging 1.00
R7144:Csnk1g2 UTSW 10 80637899 missense probably damaging 1.00
R7263:Csnk1g2 UTSW 10 80634498 missense probably damaging 0.97
R7316:Csnk1g2 UTSW 10 80639853 missense possibly damaging 0.95
R8169:Csnk1g2 UTSW 10 80639802 missense probably damaging 1.00
R8171:Csnk1g2 UTSW 10 80639802 missense probably damaging 1.00
R8227:Csnk1g2 UTSW 10 80638629 critical splice donor site probably null
Posted On2014-01-21