Incidental Mutation 'IGL03107:Csnk1a1'
ID 419014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csnk1a1
Ensembl Gene ENSMUSG00000024576
Gene Name casein kinase 1, alpha 1
Synonyms 4632404G05Rik, CK1a, 2610208K14Rik, 5430427P18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03107
Quality Score
Status
Chromosome 18
Chromosomal Location 61688345-61723132 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61701376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 91 (D91G)
Ref Sequence ENSEMBL: ENSMUSP00000131687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115246] [ENSMUST00000163205] [ENSMUST00000165123] [ENSMUST00000165721] [ENSMUST00000166990] [ENSMUST00000167187] [ENSMUST00000170862]
AlphaFold Q8BK63
Predicted Effect probably damaging
Transcript: ENSMUST00000115246
AA Change: D91G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110901
Gene: ENSMUSG00000024576
AA Change: D91G

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: D91G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127144
Gene: ENSMUSG00000024576
AA Change: D91G

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 damaging
Transcript: ENSMUST00000165123
AA Change: D91G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128871
Gene: ENSMUSG00000024576
AA Change: D91G

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: D91G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132083
Gene: ENSMUSG00000024576
AA Change: D91G

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: D91G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131687
Gene: ENSMUSG00000024576
AA Change: D91G

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: D91G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127463
Gene: ENSMUSG00000024576
AA Change: D91G

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: D91G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127265
Gene: ENSMUSG00000024576
AA Change: D91G

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
Coding Region Coverage
Validation Efficiency
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
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Angpt4 A G 2: 151,785,342 (GRCm39) M453V probably benign Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cenpk T A 13: 104,379,280 (GRCm39) I203N probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Dnajc6 G T 4: 101,474,057 (GRCm39) W486L probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpatch1 T G 7: 35,002,742 (GRCm39) N256T probably benign Het
Gpd2 T A 2: 57,245,581 (GRCm39) S425R probably damaging Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Or8g54 T G 9: 39,707,475 (GRCm39) M268R probably benign Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Pik3cg T C 12: 32,250,594 (GRCm39) D731G probably damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Ppp6r2 G T 15: 89,152,748 (GRCm39) R296S probably damaging Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Scp2 T A 4: 107,955,312 (GRCm39) I144F probably benign Het
Secisbp2 T C 13: 51,806,793 (GRCm39) probably null Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Tmprss5 A G 9: 49,024,528 (GRCm39) H281R possibly damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q probably damaging Het
Other mutations in Csnk1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Csnk1a1 APN 18 61,708,521 (GRCm39) missense probably damaging 1.00
IGL00984:Csnk1a1 APN 18 61,708,624 (GRCm39) splice site probably benign
R0513:Csnk1a1 UTSW 18 61,709,618 (GRCm39) missense probably damaging 0.99
R1068:Csnk1a1 UTSW 18 61,702,634 (GRCm39) critical splice donor site probably null
R1511:Csnk1a1 UTSW 18 61,718,321 (GRCm39) intron probably benign
R1855:Csnk1a1 UTSW 18 61,708,498 (GRCm39) splice site probably null
R2944:Csnk1a1 UTSW 18 61,711,760 (GRCm39) missense probably benign 0.02
R4426:Csnk1a1 UTSW 18 61,718,381 (GRCm39) intron probably benign
R4893:Csnk1a1 UTSW 18 61,718,372 (GRCm39) intron probably benign
R5000:Csnk1a1 UTSW 18 61,711,840 (GRCm39) missense probably damaging 1.00
R5070:Csnk1a1 UTSW 18 61,688,852 (GRCm39) missense probably benign 0.02
R5095:Csnk1a1 UTSW 18 61,708,547 (GRCm39) missense probably damaging 1.00
R6523:Csnk1a1 UTSW 18 61,688,829 (GRCm39) missense probably benign 0.01
R6601:Csnk1a1 UTSW 18 61,711,829 (GRCm39) missense probably damaging 1.00
R7425:Csnk1a1 UTSW 18 61,718,330 (GRCm39) missense unknown
R7617:Csnk1a1 UTSW 18 61,718,387 (GRCm39) missense unknown
R8358:Csnk1a1 UTSW 18 61,713,610 (GRCm39) splice site probably null
R8379:Csnk1a1 UTSW 18 61,688,925 (GRCm39) missense probably benign 0.00
R8411:Csnk1a1 UTSW 18 61,688,888 (GRCm39) missense probably benign 0.00
R9571:Csnk1a1 UTSW 18 61,704,969 (GRCm39) missense possibly damaging 0.60
X0028:Csnk1a1 UTSW 18 61,711,703 (GRCm39) splice site probably null
X0064:Csnk1a1 UTSW 18 61,702,635 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02