Incidental Mutation 'IGL03107:Csnk1a1'
ID419014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csnk1a1
Ensembl Gene ENSMUSG00000024576
Gene Namecasein kinase 1, alpha 1
Synonyms4632404G05Rik, CK1a, 5430427P18Rik, 2610208K14Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03107
Quality Score
Status
Chromosome18
Chromosomal Location61555274-61590061 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61568305 bp
ZygosityHeterozygous
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]
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
4931440F15Rik T A 11: 29,824,360 I366F probably damaging Het
A930003A15Rik T C 16: 19,883,768 noncoding transcript Het
Angpt4 A G 2: 151,943,422 M453V probably benign Het
Atr T A 9: 95,897,730 D1380E probably benign Het
Carmil1 A T 13: 24,094,455 M177K probably damaging Het
Cenpk T A 13: 104,242,772 I203N probably damaging Het
Cerk A T 15: 86,142,813 N165K probably benign Het
Col27a1 G A 4: 63,324,632 probably benign Het
Crb2 A T 2: 37,791,416 D757V probably benign Het
Dnajc6 G T 4: 101,616,860 W486L probably damaging Het
Elmod1 C T 9: 53,934,223 probably benign Het
Ercc3 G T 18: 32,248,307 R392L possibly damaging Het
Fam135b C T 15: 71,463,561 V595I probably benign Het
Fermt1 A T 2: 132,933,139 S256T probably damaging Het
Fstl5 G T 3: 76,536,311 C321F probably damaging Het
Gpatch1 T G 7: 35,303,317 N256T probably benign Het
Gpd2 T A 2: 57,355,569 S425R probably damaging Het
Igkv4-57-1 T G 6: 69,544,590 M43L probably benign Het
Itgae A G 11: 73,113,601 Q238R probably damaging Het
Lats1 T A 10: 7,712,746 D1042E probably benign Het
Lcn8 G A 2: 25,655,365 G156D probably damaging Het
Loxl4 A C 19: 42,605,279 V224G probably benign Het
Lrp2 T A 2: 69,454,833 D3827V probably damaging Het
Neb C A 2: 52,183,825 R231S probably benign Het
Olfr123 G A 17: 37,795,788 V115I probably benign Het
Olfr1458 A T 19: 13,103,037 M89K probably benign Het
Olfr213 T G 6: 116,540,939 M162R possibly damaging Het
Olfr801 A G 10: 129,669,940 M193T probably benign Het
Olfr969 T G 9: 39,796,179 M268R probably benign Het
Pappa T G 4: 65,204,703 S758R probably damaging Het
Pced1a G A 2: 130,422,835 T61I possibly damaging Het
Pik3cg T C 12: 32,200,595 D731G probably damaging Het
Plxnb1 G A 9: 109,104,986 D761N probably benign Het
Pmp22 T C 11: 63,158,309 V126A probably benign Het
Ppp6r2 G T 15: 89,268,545 R296S probably damaging Het
Prkcq A C 2: 11,260,786 H438P probably damaging Het
Ryr1 T A 7: 29,075,199 Y2339F probably damaging Het
Scaper T C 9: 55,858,402 probably benign Het
Scp2 T A 4: 108,098,115 I144F probably benign Het
Secisbp2 T C 13: 51,652,757 probably null Het
Sema5a T A 15: 32,669,408 Y693N probably damaging Het
Sin3b T A 8: 72,753,585 I905K probably damaging Het
Slc13a3 T A 2: 165,437,307 M195L probably benign Het
Strada A G 11: 106,164,037 probably benign Het
Stx18 G A 5: 38,136,311 V294M probably damaging Het
Tbpl2 A T 2: 24,093,833 N197K probably benign Het
Tdrd9 A T 12: 112,042,840 H1060L probably damaging Het
Tm4sf5 G A 11: 70,505,397 V23M possibly damaging Het
Tmem54 C A 4: 129,110,912 L187I probably damaging Het
Tmprss5 A G 9: 49,113,228 H281R possibly damaging Het
Trim30c A G 7: 104,382,613 Y332H possibly damaging Het
Uba6 T A 5: 86,127,774 probably benign Het
Unc80 C A 1: 66,631,454 P1912Q probably damaging 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
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
R5095:Csnk1a1 UTSW 18 61575476 missense probably damaging 1.00
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
R7617:Csnk1a1 UTSW 18 61585316 missense unknown
X0028:Csnk1a1 UTSW 18 61578632 intron probably null
X0064:Csnk1a1 UTSW 18 61569564 critical splice donor site probably null
Posted On2016-08-02