Incidental Mutation 'R2389:Cnksr1'
ID |
247731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnksr1
|
Ensembl Gene |
ENSMUSG00000028841 |
Gene Name |
connector enhancer of kinase suppressor of Ras 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.287)
|
Stock # |
R2389 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
133955352-133965710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 133961057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 235
(I235V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030645
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030645]
|
AlphaFold |
A2A9K7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030645
AA Change: I235V
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000030645 Gene: ENSMUSG00000028841 AA Change: I235V
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
T |
C |
2: 158,467,132 (GRCm39) |
V24A |
probably benign |
Het |
Adrm1 |
C |
A |
2: 179,816,116 (GRCm39) |
|
probably benign |
Het |
Cdk13 |
T |
A |
13: 17,926,361 (GRCm39) |
H813L |
probably damaging |
Het |
Cdkal1 |
T |
A |
13: 29,736,219 (GRCm39) |
H300L |
probably damaging |
Het |
Ctnnd1 |
T |
A |
2: 84,454,615 (GRCm39) |
Q11L |
probably null |
Het |
Dync2h1 |
T |
C |
9: 7,122,618 (GRCm39) |
I2113V |
possibly damaging |
Het |
Eng |
T |
C |
2: 32,547,684 (GRCm39) |
|
probably null |
Het |
Gria2 |
A |
G |
3: 80,609,932 (GRCm39) |
W626R |
probably damaging |
Het |
Kctd1 |
A |
G |
18: 15,195,268 (GRCm39) |
S452P |
possibly damaging |
Het |
Kdm4c |
T |
C |
4: 74,252,107 (GRCm39) |
|
probably null |
Het |
Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Nat8f7 |
C |
A |
6: 85,684,476 (GRCm39) |
M121I |
probably benign |
Het |
Ppfibp1 |
A |
T |
6: 146,923,669 (GRCm39) |
H667L |
probably damaging |
Het |
Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
Prss12 |
A |
G |
3: 123,280,670 (GRCm39) |
N452D |
possibly damaging |
Het |
Rab17 |
T |
C |
1: 90,891,926 (GRCm39) |
T33A |
probably benign |
Het |
Rxfp3 |
A |
G |
15: 11,036,770 (GRCm39) |
C201R |
probably damaging |
Het |
Spag17 |
A |
G |
3: 100,014,153 (GRCm39) |
Y2142C |
probably benign |
Het |
Stx6 |
T |
C |
1: 155,073,164 (GRCm39) |
V225A |
possibly damaging |
Het |
Ugt2b5 |
G |
A |
5: 87,275,541 (GRCm39) |
P437S |
probably damaging |
Het |
Usp13 |
A |
G |
3: 32,959,613 (GRCm39) |
K568R |
probably benign |
Het |
Zan |
A |
G |
5: 137,474,642 (GRCm39) |
|
probably null |
Het |
Zbtb8b |
T |
C |
4: 129,327,066 (GRCm39) |
E33G |
probably benign |
Het |
Zcchc17 |
T |
A |
4: 130,220,997 (GRCm39) |
K185* |
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 |
R0855:Cnksr1
|
UTSW |
4 |
133,960,377 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- ACCGAGTTTAACCGAGATCCC -3'
(R):5'- GGGTCTAGAAATTCACACCACC -3'
Sequencing Primer
(F):5'- CTGTGTTGGCTCACGTCACG -3'
(R):5'- CAGCAACTGCCTGCACTTTG -3'
|
Posted On |
2014-11-11 |