Incidental Mutation 'R5060:Cilk1'
| ID |
386565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cilk1
|
| Ensembl Gene |
ENSMUSG00000009828 |
| Gene Name |
ciliogenesis associated kinase 1 |
| Synonyms |
2210420N10Rik, Ick |
| MMRRC Submission |
042650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.833)
|
| Stock # |
R5060 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
78016474-78079389 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78060978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 208
(T208I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044551]
[ENSMUST00000117330]
[ENSMUST00000118869]
|
| AlphaFold |
Q9JKV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044551
AA Change: T208I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000048234
Gene: ENSMUSG00000009828
AA Change: T208I
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
284 |
2.7e-102 |
SMART |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117330
AA Change: T208I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000113655
Gene: ENSMUSG00000009828
AA Change: T208I
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
284 |
2.7e-102 |
SMART |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118869
AA Change: T208I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000112961
Gene: ENSMUSG00000009828
AA Change: T208I
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
284 |
2.7e-102 |
SMART |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142402
|
| Meta Mutation Damage Score |
0.3054 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal primary cilium morphology and Shh signaling during limb digit patterning, peripheral edema, cleft palate, hydrocephalus, polydactyly, delayed skeletal development, and embryonic lethality at late stages of gestation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(29) : Targeted, other(1) Gene trapped(28) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,474,107 (GRCm39) |
L17Q |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,571,836 (GRCm39) |
|
probably benign |
Het |
| Actg1 |
A |
G |
11: 120,237,839 (GRCm39) |
S234P |
probably benign |
Het |
| Acvr2a |
A |
G |
2: 48,780,311 (GRCm39) |
D177G |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,300,054 (GRCm39) |
C914R |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,298,621 (GRCm39) |
I103T |
possibly damaging |
Het |
| Als2cl |
C |
T |
9: 110,713,205 (GRCm39) |
L32F |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,570 (GRCm39) |
|
probably benign |
Het |
| Ankrd52 |
T |
A |
10: 128,225,710 (GRCm39) |
S959R |
possibly damaging |
Het |
| Bnc2 |
C |
A |
4: 84,449,872 (GRCm39) |
A122S |
probably benign |
Het |
| Cert1 |
A |
T |
13: 96,739,663 (GRCm39) |
K226N |
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,875,013 (GRCm39) |
V443M |
probably damaging |
Het |
| Clca4b |
T |
A |
3: 144,617,267 (GRCm39) |
R794S |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,049,514 (GRCm39) |
L14P |
unknown |
Het |
| Ggt5 |
T |
C |
10: 75,440,608 (GRCm39) |
M243T |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,124,482 (GRCm39) |
I292T |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,386,355 (GRCm39) |
V341E |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,167 (GRCm39) |
F359S |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,010,441 (GRCm39) |
K340* |
probably null |
Het |
| Heatr9 |
T |
C |
11: 83,403,258 (GRCm39) |
E427G |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,358,195 (GRCm39) |
G102D |
unknown |
Het |
| Mark3 |
T |
C |
12: 111,584,760 (GRCm39) |
F119L |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,350,959 (GRCm39) |
V500A |
probably benign |
Het |
| Mrpl41 |
A |
G |
2: 24,864,295 (GRCm39) |
F126L |
probably damaging |
Het |
| Or10c1 |
C |
A |
17: 37,522,307 (GRCm39) |
A146S |
probably benign |
Het |
| Or6c3b |
C |
T |
10: 129,527,699 (GRCm39) |
M70I |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,506,928 (GRCm39) |
S372T |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,556,906 (GRCm39) |
I118N |
probably damaging |
Het |
| Plcl1 |
G |
T |
1: 55,735,671 (GRCm39) |
M337I |
possibly damaging |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,240,844 (GRCm39) |
Y321C |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,061,389 (GRCm39) |
L252R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,004,063 (GRCm39) |
V1639A |
probably benign |
Het |
| Tff1 |
A |
G |
17: 31,381,682 (GRCm39) |
V65A |
probably damaging |
Het |
| Trpm4 |
G |
T |
7: 44,971,258 (GRCm39) |
D222E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,643,741 (GRCm39) |
D13162E |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,723 (GRCm39) |
S466T |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,683 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,208,323 (GRCm39) |
|
probably null |
Het |
| Xpr1 |
T |
C |
1: 155,204,430 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
A |
G |
4: 136,728,604 (GRCm39) |
V413A |
possibly damaging |
Het |
|
| Other mutations in Cilk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Cilk1
|
APN |
9 |
78,071,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01679:Cilk1
|
APN |
9 |
78,047,307 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02525:Cilk1
|
APN |
9 |
78,067,675 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02719:Cilk1
|
APN |
9 |
78,047,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB001:Cilk1
|
UTSW |
9 |
78,062,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Cilk1
|
UTSW |
9 |
78,062,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8930:Cilk1
|
UTSW |
9 |
78,057,901 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0471:Cilk1
|
UTSW |
9 |
78,062,799 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1626:Cilk1
|
UTSW |
9 |
78,057,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Cilk1
|
UTSW |
9 |
78,065,144 (GRCm39) |
missense |
probably benign |
|
|
R2186:Cilk1
|
UTSW |
9 |
78,038,769 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2872:Cilk1
|
UTSW |
9 |
78,047,382 (GRCm39) |
splice site |
probably null |
|
|
R2872:Cilk1
|
UTSW |
9 |
78,047,382 (GRCm39) |
splice site |
probably null |
|
|
R4609:Cilk1
|
UTSW |
9 |
78,075,071 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4737:Cilk1
|
UTSW |
9 |
78,057,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Cilk1
|
UTSW |
9 |
78,060,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Cilk1
|
UTSW |
9 |
78,038,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Cilk1
|
UTSW |
9 |
78,047,303 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5393:Cilk1
|
UTSW |
9 |
78,067,997 (GRCm39) |
missense |
probably benign |
|
|
R6199:Cilk1
|
UTSW |
9 |
78,071,921 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6412:Cilk1
|
UTSW |
9 |
78,047,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Cilk1
|
UTSW |
9 |
78,016,484 (GRCm39) |
unclassified |
probably benign |
|
|
R7468:Cilk1
|
UTSW |
9 |
78,065,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7660:Cilk1
|
UTSW |
9 |
78,074,902 (GRCm39) |
missense |
probably benign |
|
|
R7661:Cilk1
|
UTSW |
9 |
78,074,902 (GRCm39) |
missense |
probably benign |
|
|
R7662:Cilk1
|
UTSW |
9 |
78,074,902 (GRCm39) |
missense |
probably benign |
|
|
R7666:Cilk1
|
UTSW |
9 |
78,074,902 (GRCm39) |
missense |
probably benign |
|
|
R7693:Cilk1
|
UTSW |
9 |
78,065,008 (GRCm39) |
missense |
probably benign |
|
|
R7783:Cilk1
|
UTSW |
9 |
78,042,927 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7787:Cilk1
|
UTSW |
9 |
78,074,902 (GRCm39) |
missense |
probably benign |
|
|
R7788:Cilk1
|
UTSW |
9 |
78,074,902 (GRCm39) |
missense |
probably benign |
|
|
R7924:Cilk1
|
UTSW |
9 |
78,062,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Cilk1
|
UTSW |
9 |
78,060,933 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8861:Cilk1
|
UTSW |
9 |
78,071,844 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9131:Cilk1
|
UTSW |
9 |
78,074,230 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9749:Cilk1
|
UTSW |
9 |
78,060,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9782:Cilk1
|
UTSW |
9 |
78,048,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0067:Cilk1
|
UTSW |
9 |
78,062,685 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACATTGCATTTAGGGAAACGAC -3'
(R):5'- GCCTTGCTAGAGAACCTGAG -3'
Sequencing Primer
(F):5'- GGGAAACGACATACTTTTACTGAG -3'
(R):5'- CCTTGCTAGAGAACCTGAGCAGAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation