Incidental Mutation 'R0855:Cnksr1'
| ID |
82684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnksr1
|
| Ensembl Gene |
ENSMUSG00000028841 |
| Gene Name |
connector enhancer of kinase suppressor of Ras 1 |
| Synonyms |
|
| MMRRC Submission |
039034-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R0855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133955352-133965710 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 133960377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030645]
|
| AlphaFold |
A2A9K7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030645
|
| SMART Domains |
Protein: ENSMUSP00000030645
Gene: ENSMUSG00000028841
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
4 |
70 |
1.44e-9 |
SMART |
|
Pfam:CRIC_ras_sig
|
78 |
162 |
4.2e-26 |
PFAM |
|
PDZ
|
206 |
276 |
1.48e-3 |
SMART |
|
low complexity region
|
285 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
347 |
N/A |
INTRINSIC |
|
PH
|
388 |
488 |
4.38e-19 |
SMART |
|
coiled coil region
|
596 |
624 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124181
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146283
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700046A07Rik |
A |
G |
18: 62,886,414 (GRCm39) |
|
noncoding transcript |
Het |
| Ak3 |
T |
C |
19: 29,000,345 (GRCm39) |
K189E |
probably benign |
Het |
| Anks3 |
A |
T |
16: 4,773,811 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,961,761 (GRCm39) |
H2378N |
possibly damaging |
Het |
| Baz1a |
A |
G |
12: 54,947,348 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,705,929 (GRCm39) |
F1504S |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,119,950 (GRCm39) |
T353A |
possibly damaging |
Het |
| Btn1a1 |
C |
A |
13: 23,648,489 (GRCm39) |
V115F |
probably damaging |
Het |
| Cd38 |
T |
A |
5: 44,060,927 (GRCm39) |
|
probably null |
Het |
| Cep250 |
T |
C |
2: 155,806,031 (GRCm39) |
C109R |
probably damaging |
Het |
| Dmxl2 |
T |
A |
9: 54,273,724 (GRCm39) |
N3048I |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,206,971 (GRCm39) |
H116L |
probably damaging |
Het |
| Kank4 |
C |
A |
4: 98,659,681 (GRCm39) |
W799L |
probably damaging |
Het |
| Kcnk7 |
C |
T |
19: 5,756,103 (GRCm39) |
H110Y |
probably benign |
Het |
| Mak |
T |
C |
13: 41,223,640 (GRCm39) |
E25G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,102,759 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
A |
C |
11: 68,702,627 (GRCm39) |
D1767A |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ndufaf6 |
A |
T |
4: 11,051,169 (GRCm39) |
H310Q |
probably damaging |
Het |
| Osbpl6 |
G |
T |
2: 76,415,477 (GRCm39) |
G467V |
probably damaging |
Het |
| Osbpl6 |
A |
G |
2: 76,422,183 (GRCm39) |
E673G |
probably damaging |
Het |
| Picalm |
T |
A |
7: 89,840,356 (GRCm39) |
D458E |
possibly damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,752 (GRCm39) |
R294H |
probably benign |
Het |
| Prdm14 |
T |
A |
1: 13,195,761 (GRCm39) |
N100I |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,591,471 (GRCm39) |
T510A |
probably benign |
Het |
| Sars1 |
C |
A |
3: 108,334,248 (GRCm39) |
E503D |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,471,880 (GRCm39) |
D853G |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Thada |
T |
C |
17: 84,744,083 (GRCm39) |
T742A |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,788,625 (GRCm39) |
S321P |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,892,137 (GRCm39) |
C223* |
probably null |
Het |
| Usp48 |
T |
C |
4: 137,335,465 (GRCm39) |
F213L |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,670 (GRCm39) |
Y562* |
probably null |
Het |
|
| Other mutations in Cnksr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00718:Cnksr1
|
APN |
4 |
133,962,012 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01311:Cnksr1
|
APN |
4 |
133,957,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01872:Cnksr1
|
APN |
4 |
133,956,275 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02082:Cnksr1
|
APN |
4 |
133,963,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02405:Cnksr1
|
APN |
4 |
133,963,592 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02669:Cnksr1
|
APN |
4 |
133,957,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02948:Cnksr1
|
APN |
4 |
133,962,417 (GRCm39) |
splice site |
probably null |
|
|
IGL03037:Cnksr1
|
APN |
4 |
133,962,417 (GRCm39) |
splice site |
probably null |
|
|
IGL03381:Cnksr1
|
APN |
4 |
133,959,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1958:Cnksr1
|
UTSW |
4 |
133,955,727 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2049:Cnksr1
|
UTSW |
4 |
133,956,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Cnksr1
|
UTSW |
4 |
133,956,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2141:Cnksr1
|
UTSW |
4 |
133,956,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2142:Cnksr1
|
UTSW |
4 |
133,956,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2389:Cnksr1
|
UTSW |
4 |
133,961,057 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2495:Cnksr1
|
UTSW |
4 |
133,959,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4596:Cnksr1
|
UTSW |
4 |
133,961,189 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4668:Cnksr1
|
UTSW |
4 |
133,960,282 (GRCm39) |
intron |
probably benign |
|
|
R4896:Cnksr1
|
UTSW |
4 |
133,956,986 (GRCm39) |
splice site |
probably null |
|
|
R5367:Cnksr1
|
UTSW |
4 |
133,957,525 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5673:Cnksr1
|
UTSW |
4 |
133,962,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Cnksr1
|
UTSW |
4 |
133,955,575 (GRCm39) |
unclassified |
probably benign |
|
|
R6153:Cnksr1
|
UTSW |
4 |
133,961,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7207:Cnksr1
|
UTSW |
4 |
133,962,434 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7261:Cnksr1
|
UTSW |
4 |
133,963,084 (GRCm39) |
splice site |
probably null |
|
|
R7978:Cnksr1
|
UTSW |
4 |
133,963,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8310:Cnksr1
|
UTSW |
4 |
133,956,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Cnksr1
|
UTSW |
4 |
133,959,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9019:Cnksr1
|
UTSW |
4 |
133,959,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Cnksr1
|
UTSW |
4 |
133,960,608 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9102:Cnksr1
|
UTSW |
4 |
133,956,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Cnksr1
|
UTSW |
4 |
133,956,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9344:Cnksr1
|
UTSW |
4 |
133,963,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9435:Cnksr1
|
UTSW |
4 |
133,961,885 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Cnksr1
|
UTSW |
4 |
133,959,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cnksr1
|
UTSW |
4 |
133,959,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGGATGGGACTCTGAAAAGACC -3'
(R):5'- GAAGAAGATTCCCGTGCCAGAGAC -3'
Sequencing Primer
(F):5'- ATCCATGAGTTTAGGCCCAG -3'
(R):5'- ACACACATCTGCTTTCAGACTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation