Incidental Mutation 'IGL03381:Cnksr1'
ID |
420709 |
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: 0.318)
|
Stock # |
IGL03381
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
133955352-133965710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 133959482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 384
(E384G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030645
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030645]
[ENSMUST00000055892]
[ENSMUST00000105878]
[ENSMUST00000169381]
|
AlphaFold |
A2A9K7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030645
AA Change: E384G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030645 Gene: ENSMUSG00000028841 AA Change: E384G
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330017A19Rik |
T |
C |
17: 47,200,812 (GRCm39) |
|
probably benign |
Het |
Abca16 |
T |
C |
7: 120,127,041 (GRCm39) |
F1243S |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,666,086 (GRCm39) |
V1990A |
probably damaging |
Het |
Arhgdib |
G |
A |
6: 136,909,314 (GRCm39) |
T69I |
probably benign |
Het |
Atf2 |
G |
A |
2: 73,659,012 (GRCm39) |
A214V |
probably benign |
Het |
Ccr2 |
G |
A |
9: 123,906,409 (GRCm39) |
V230I |
probably benign |
Het |
Epha5 |
T |
A |
5: 84,479,191 (GRCm39) |
D271V |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
Gzmf |
A |
T |
14: 56,444,450 (GRCm39) |
V41E |
probably benign |
Het |
H2-T10 |
C |
T |
17: 36,430,246 (GRCm39) |
D232N |
probably benign |
Het |
H2-T10 |
T |
A |
17: 36,430,249 (GRCm39) |
K231* |
probably null |
Het |
Hsd3b6 |
A |
G |
3: 98,715,128 (GRCm39) |
V88A |
possibly damaging |
Het |
Kit |
C |
T |
5: 75,767,788 (GRCm39) |
T57M |
probably benign |
Het |
Klhl22 |
A |
G |
16: 17,610,591 (GRCm39) |
D614G |
possibly damaging |
Het |
Matr3 |
T |
A |
18: 35,712,078 (GRCm39) |
|
probably benign |
Het |
Mff |
A |
G |
1: 82,719,661 (GRCm39) |
Y213C |
probably damaging |
Het |
Mrnip |
A |
G |
11: 50,090,417 (GRCm39) |
T194A |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,292,537 (GRCm39) |
F431L |
probably damaging |
Het |
Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
Nlrc3 |
A |
G |
16: 3,782,179 (GRCm39) |
V410A |
probably benign |
Het |
Or4c120 |
A |
G |
2: 89,001,523 (GRCm39) |
I11T |
possibly damaging |
Het |
Or52a5b |
T |
C |
7: 103,417,044 (GRCm39) |
I187V |
probably benign |
Het |
Or5b108 |
T |
A |
19: 13,168,769 (GRCm39) |
V246D |
probably damaging |
Het |
Pramel21 |
T |
C |
4: 143,343,625 (GRCm39) |
|
probably benign |
Het |
Psip1 |
T |
C |
4: 83,404,022 (GRCm39) |
T2A |
probably benign |
Het |
Rbm33 |
T |
C |
5: 28,599,390 (GRCm39) |
F921L |
unknown |
Het |
Rhbdl2 |
T |
C |
4: 123,716,610 (GRCm39) |
V189A |
possibly damaging |
Het |
Rpap2 |
C |
T |
5: 107,768,067 (GRCm39) |
P302S |
probably benign |
Het |
Sec23ip |
T |
A |
7: 128,352,029 (GRCm39) |
V32D |
probably damaging |
Het |
Sh3yl1 |
T |
C |
12: 30,976,836 (GRCm39) |
I47T |
possibly damaging |
Het |
Spmip4 |
T |
C |
6: 50,566,116 (GRCm39) |
S120G |
probably damaging |
Het |
Tenm2 |
A |
C |
11: 35,959,238 (GRCm39) |
S1104A |
probably benign |
Het |
Ufd1 |
A |
G |
16: 18,644,507 (GRCm39) |
D190G |
probably damaging |
Het |
Ugt1a7c |
T |
C |
1: 88,023,512 (GRCm39) |
F224L |
probably benign |
Het |
Utp20 |
G |
T |
10: 88,657,867 (GRCm39) |
F64L |
probably damaging |
Het |
Vmn1r198 |
A |
G |
13: 22,539,006 (GRCm39) |
Y164C |
probably benign |
Het |
Wdcp |
T |
A |
12: 4,901,926 (GRCm39) |
V594D |
probably damaging |
Het |
Xirp2 |
A |
C |
2: 67,344,570 (GRCm39) |
E2270D |
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 |
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 |
|
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 |
2016-08-02 |