Incidental Mutation 'IGL01872:Cnksr1'
| ID |
178765 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01872
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
133955352-133965710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133956275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 603
(I603T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030645]
[ENSMUST00000055892]
[ENSMUST00000105878]
[ENSMUST00000169381]
|
| AlphaFold |
A2A9K7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030645
AA Change: I603T
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030645
Gene: ENSMUSG00000028841
AA Change: I603T
| 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 |
probably benign
Transcript: ENSMUST00000055892
|
| SMART Domains |
Protein: ENSMUSP00000051694
Gene: ENSMUSG00000048003
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
67 |
294 |
6.9e-34 |
PFAM |
|
Pfam:PKD_channel
|
149 |
289 |
8.1e-8 |
PFAM |
|
low complexity region
|
304 |
315 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105878
|
| SMART Domains |
Protein: ENSMUSP00000101504
Gene: ENSMUSG00000048003
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124181
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146283
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169381
|
| SMART Domains |
Protein: ENSMUSP00000131094
Gene: ENSMUSG00000048003
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
56 |
209 |
2.4e-11 |
PFAM |
|
low complexity region
|
231 |
242 |
N/A |
INTRINSIC |
|
coiled coil region
|
280 |
310 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,058,120 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,437,824 (GRCm39) |
S1657P |
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,507,818 (GRCm39) |
N371S |
probably benign |
Het |
| Cby1 |
T |
A |
15: 79,549,943 (GRCm39) |
W59R |
probably damaging |
Het |
| Chmp1a |
A |
T |
8: 123,932,976 (GRCm39) |
L159Q |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,268,121 (GRCm39) |
|
probably benign |
Het |
| Dph1 |
A |
C |
11: 75,072,167 (GRCm39) |
F220C |
probably damaging |
Het |
| Epha4 |
T |
A |
1: 77,359,676 (GRCm39) |
M726L |
probably benign |
Het |
| Eps8l1 |
C |
T |
7: 4,475,295 (GRCm39) |
|
probably benign |
Het |
| Fbxo24 |
C |
A |
5: 137,611,987 (GRCm39) |
R313L |
probably damaging |
Het |
| Fgf4 |
C |
T |
7: 144,415,995 (GRCm39) |
R119* |
probably null |
Het |
| Grb10 |
T |
C |
11: 11,920,547 (GRCm39) |
T24A |
probably damaging |
Het |
| Ifi27l2a |
C |
T |
12: 103,401,719 (GRCm39) |
A2V |
probably damaging |
Het |
| Ipmk |
T |
A |
10: 71,208,706 (GRCm39) |
M165K |
probably damaging |
Het |
| Kcnk2 |
C |
T |
1: 188,988,780 (GRCm39) |
G266R |
probably damaging |
Het |
| Mak |
A |
C |
13: 41,210,131 (GRCm39) |
M35R |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,142,545 (GRCm39) |
I120F |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,381,814 (GRCm39) |
V1423A |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,259,368 (GRCm39) |
*506Q |
probably null |
Het |
| Opn4 |
T |
A |
14: 34,319,166 (GRCm39) |
|
probably benign |
Het |
| Or13a26 |
T |
C |
7: 140,284,176 (GRCm39) |
L4P |
possibly damaging |
Het |
| Or52ab2 |
T |
C |
7: 102,970,179 (GRCm39) |
V187A |
probably benign |
Het |
| Or5g23 |
T |
A |
2: 85,438,673 (GRCm39) |
M194L |
probably benign |
Het |
| Otof |
G |
A |
5: 30,536,598 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,588,018 (GRCm39) |
|
probably null |
Het |
| Pik3r1 |
A |
T |
13: 101,825,625 (GRCm39) |
D87E |
probably benign |
Het |
| Rbm6 |
A |
T |
9: 107,660,914 (GRCm39) |
V883E |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,154 (GRCm39) |
S496G |
probably benign |
Het |
| Sap130 |
A |
G |
18: 31,807,473 (GRCm39) |
R427G |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,589,202 (GRCm39) |
S415G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,311,981 (GRCm39) |
S458P |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,748,167 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
T |
6: 48,431,623 (GRCm39) |
V639L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,729,077 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vps54 |
G |
A |
11: 21,256,940 (GRCm39) |
A683T |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,960,164 (GRCm39) |
N123I |
possibly damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,965,783 (GRCm39) |
V624A |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation