Incidental Mutation 'R0593:Csnka2ip'
| ID |
56068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csnka2ip
|
| Ensembl Gene |
ENSMUSG00000068167 |
| Gene Name |
casein kinase 2, alpha prime interacting protein |
| Synonyms |
Ckt2 |
| MMRRC Submission |
038783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R0593 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
64298173-64422694 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64298975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 19
(V19D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089279]
[ENSMUST00000209382]
|
| AlphaFold |
Q8CH19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089279
AA Change: V19D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086692
Gene: ENSMUSG00000068167
AA Change: V19D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
164 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000209382
AA Change: V463D
|
| Meta Mutation Damage Score |
0.1472 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,958,925 (GRCm39) |
D733G |
probably damaging |
Het |
| Acmsd |
T |
C |
1: 127,666,340 (GRCm39) |
|
probably benign |
Het |
| Adam34 |
T |
C |
8: 44,104,724 (GRCm39) |
Y307C |
possibly damaging |
Het |
| Alox12e |
A |
G |
11: 70,211,723 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,537,156 (GRCm39) |
G29* |
probably null |
Het |
| Arhgap17 |
T |
C |
7: 122,885,966 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,802,619 (GRCm39) |
M141T |
probably benign |
Het |
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bsn |
A |
T |
9: 107,987,505 (GRCm39) |
I2749N |
unknown |
Het |
| Cds2 |
G |
A |
2: 132,139,296 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,001,757 (GRCm39) |
V384A |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,413,683 (GRCm39) |
S71P |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 70,917,744 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,573,608 (GRCm39) |
K785E |
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,083,465 (GRCm39) |
|
probably benign |
Het |
| Gal3st2b |
T |
C |
1: 93,868,549 (GRCm39) |
V258A |
probably benign |
Het |
| Gucy2c |
T |
C |
6: 136,705,333 (GRCm39) |
N534S |
probably damaging |
Het |
| Hook1 |
C |
T |
4: 95,887,023 (GRCm39) |
T210I |
possibly damaging |
Het |
| Ifi203 |
T |
C |
1: 173,756,215 (GRCm39) |
|
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,844,975 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,297,350 (GRCm39) |
V3204I |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,780 (GRCm39) |
|
probably benign |
Het |
| Nelfcd |
G |
T |
2: 174,265,223 (GRCm39) |
V248L |
probably benign |
Het |
| Oosp1 |
T |
C |
19: 11,645,776 (GRCm39) |
S121G |
probably benign |
Het |
| Or10am5 |
T |
A |
7: 6,517,808 (GRCm39) |
N207Y |
probably benign |
Het |
| Sec16b |
G |
C |
1: 157,359,718 (GRCm39) |
G164R |
probably benign |
Het |
| Slc22a14 |
T |
A |
9: 118,998,919 (GRCm39) |
D561V |
probably benign |
Het |
| Tet2 |
G |
A |
3: 133,193,870 (GRCm39) |
T188I |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,009 (GRCm39) |
V63A |
possibly damaging |
Het |
| Ube2d2a |
T |
G |
18: 35,903,438 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
T |
A |
7: 20,521,388 (GRCm39) |
V60E |
probably damaging |
Het |
|
| Other mutations in Csnka2ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02039:Csnka2ip
|
APN |
16 |
64,298,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02677:Csnka2ip
|
APN |
16 |
64,298,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
G1Funyon:Csnka2ip
|
UTSW |
16 |
64,299,354 (GRCm39) |
missense |
unknown |
|
|
R1075:Csnka2ip
|
UTSW |
16 |
64,298,310 (GRCm39) |
nonsense |
probably null |
|
|
R1698:Csnka2ip
|
UTSW |
16 |
64,298,422 (GRCm39) |
nonsense |
probably null |
|
|
R1815:Csnka2ip
|
UTSW |
16 |
64,298,855 (GRCm39) |
missense |
probably benign |
|
|
R6446:Csnka2ip
|
UTSW |
16 |
64,299,744 (GRCm39) |
nonsense |
probably null |
|
|
R6709:Csnka2ip
|
UTSW |
16 |
64,298,932 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6937:Csnka2ip
|
UTSW |
16 |
64,299,058 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6999:Csnka2ip
|
UTSW |
16 |
64,298,933 (GRCm39) |
missense |
unknown |
|
|
R7013:Csnka2ip
|
UTSW |
16 |
64,298,780 (GRCm39) |
missense |
unknown |
|
|
R7103:Csnka2ip
|
UTSW |
16 |
64,299,120 (GRCm39) |
missense |
unknown |
|
|
R7395:Csnka2ip
|
UTSW |
16 |
64,299,803 (GRCm39) |
missense |
|
|
|
R7816:Csnka2ip
|
UTSW |
16 |
64,299,852 (GRCm39) |
unclassified |
probably benign |
|
|
R8301:Csnka2ip
|
UTSW |
16 |
64,299,354 (GRCm39) |
missense |
unknown |
|
|
R8416:Csnka2ip
|
UTSW |
16 |
64,300,295 (GRCm39) |
missense |
|
|
|
R8946:Csnka2ip
|
UTSW |
16 |
64,300,667 (GRCm39) |
splice site |
probably benign |
|
|
R9203:Csnka2ip
|
UTSW |
16 |
64,298,630 (GRCm39) |
missense |
unknown |
|
|
R9479:Csnka2ip
|
UTSW |
16 |
64,298,262 (GRCm39) |
missense |
unknown |
|
|
R9774:Csnka2ip
|
UTSW |
16 |
64,299,093 (GRCm39) |
missense |
unknown |
|
|
R9799:Csnka2ip
|
UTSW |
16 |
64,298,672 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCCAAACACTTTCGCTTTGTC -3'
(R):5'- CCCAAGGTCCAGAATACTGCTTCAC -3'
Sequencing Primer
(F):5'- ACGTCCAGATTGTCATCGAG -3'
(R):5'- GAGTATCAAGTCCTAAGCCCTGTATC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation