Incidental Mutation 'IGL01905:Csnk1d'
ID |
179633 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Csnk1d
|
Ensembl Gene |
ENSMUSG00000025162 |
Gene Name |
casein kinase 1, delta |
Synonyms |
1200006A05Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01905
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
120849816-120882156 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120864789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 65
(I65N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018274]
[ENSMUST00000070575]
|
AlphaFold |
Q9DC28 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018274
AA Change: I65N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000018274 Gene: ENSMUSG00000025162 AA Change: I65N
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
9 |
273 |
3.7e-18 |
PFAM |
Pfam:Pkinase
|
9 |
277 |
1.8e-28 |
PFAM |
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070575
AA Change: I65N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070721 Gene: ENSMUSG00000025162 AA Change: I65N
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
9 |
273 |
1.6e-18 |
PFAM |
Pfam:Pkinase
|
9 |
280 |
2.8e-41 |
PFAM |
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141071
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146837
|
SMART Domains |
Protein: ENSMUSP00000115055 Gene: ENSMUSG00000025162
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
2 |
55 |
6.6e-6 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154483
AA Change: I69N
|
SMART Domains |
Protein: ENSMUSP00000117472 Gene: ENSMUSG00000025162 AA Change: I69N
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
25 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
27 |
210 |
2.5e-12 |
PFAM |
Pfam:Pkinase
|
28 |
218 |
3.4e-21 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the casein kinase I (CKI) family of serine/threonine protein kinases. A highly similar human protein regulates an array of cellular processes by influencing the Wnt and hedgehog signaling pathways. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice die 1.5 to 5 days after birth and fetal weight is significantly smaller than controls. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
A |
T |
10: 78,903,582 (GRCm39) |
C245S |
probably damaging |
Het |
Apol10b |
A |
G |
15: 77,469,559 (GRCm39) |
I206T |
possibly damaging |
Het |
Bax |
A |
T |
7: 45,115,542 (GRCm39) |
I31N |
probably damaging |
Het |
Ccdc116 |
C |
A |
16: 16,960,425 (GRCm39) |
V131L |
probably damaging |
Het |
Ces2b |
C |
A |
8: 105,560,594 (GRCm39) |
N136K |
probably damaging |
Het |
Fam167b |
A |
G |
4: 129,470,892 (GRCm39) |
M152T |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Heatr6 |
C |
T |
11: 83,672,538 (GRCm39) |
S1182L |
probably benign |
Het |
Lpcat4 |
T |
C |
2: 112,073,388 (GRCm39) |
|
probably null |
Het |
Myh8 |
T |
C |
11: 67,175,477 (GRCm39) |
Y311H |
possibly damaging |
Het |
Naaladl1 |
G |
A |
19: 6,165,577 (GRCm39) |
D744N |
possibly damaging |
Het |
Pik3r4 |
C |
A |
9: 105,522,077 (GRCm39) |
Y214* |
probably null |
Het |
Proca1 |
A |
G |
11: 78,095,716 (GRCm39) |
H29R |
probably damaging |
Het |
Prrc2c |
T |
C |
1: 162,532,898 (GRCm39) |
|
probably benign |
Het |
Rcor3 |
G |
A |
1: 191,785,302 (GRCm39) |
P489S |
probably damaging |
Het |
Rela |
A |
T |
19: 5,695,592 (GRCm39) |
N337I |
probably benign |
Het |
Rnf123 |
C |
T |
9: 107,948,569 (GRCm39) |
|
probably benign |
Het |
Septin9 |
T |
A |
11: 117,109,715 (GRCm39) |
S12T |
probably benign |
Het |
Serpina1c |
A |
T |
12: 103,863,318 (GRCm39) |
L294Q |
possibly damaging |
Het |
Slc12a5 |
A |
G |
2: 164,832,301 (GRCm39) |
D740G |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zfp473 |
T |
C |
7: 44,383,151 (GRCm39) |
K394R |
probably benign |
Het |
Zkscan7 |
C |
T |
9: 122,719,826 (GRCm39) |
P171S |
possibly damaging |
Het |
Zmynd19 |
T |
A |
2: 24,841,541 (GRCm39) |
F36L |
probably benign |
Het |
|
Other mutations in Csnk1d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01689:Csnk1d
|
APN |
11 |
120,862,393 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02476:Csnk1d
|
APN |
11 |
120,863,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R1971:Csnk1d
|
UTSW |
11 |
120,863,274 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2245:Csnk1d
|
UTSW |
11 |
120,863,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R4472:Csnk1d
|
UTSW |
11 |
120,855,800 (GRCm39) |
unclassified |
probably benign |
|
R4767:Csnk1d
|
UTSW |
11 |
120,859,954 (GRCm39) |
missense |
probably benign |
|
R4809:Csnk1d
|
UTSW |
11 |
120,854,668 (GRCm39) |
unclassified |
probably benign |
|
R4870:Csnk1d
|
UTSW |
11 |
120,874,014 (GRCm39) |
intron |
probably benign |
|
R6522:Csnk1d
|
UTSW |
11 |
120,862,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R6657:Csnk1d
|
UTSW |
11 |
120,855,820 (GRCm39) |
missense |
possibly damaging |
0.75 |
RF009:Csnk1d
|
UTSW |
11 |
120,862,453 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Posted On |
2014-05-07 |