Incidental Mutation 'R8310:Cnksr1'
ID |
641314 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnksr1
|
Ensembl Gene |
ENSMUSG00000028841 |
Gene Name |
connector enhancer of kinase suppressor of Ras 1 |
Synonyms |
|
MMRRC Submission |
067795-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.287)
|
Stock # |
R8310 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
133955352-133965710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 133956730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 510
(E510G)
|
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: E510G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030645 Gene: ENSMUSG00000028841 AA Change: E510G
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 |
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (50/51) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830005F24Rik |
T |
G |
13: 48,667,727 (GRCm39) |
W10G |
unknown |
Het |
Abca13 |
A |
T |
11: 9,328,269 (GRCm39) |
K3447N |
possibly damaging |
Het |
Agtr1a |
T |
G |
13: 30,565,745 (GRCm39) |
V270G |
probably benign |
Het |
Apob |
A |
T |
12: 8,059,033 (GRCm39) |
H2505L |
probably benign |
Het |
Babam1 |
T |
A |
8: 71,850,629 (GRCm39) |
V86D |
possibly damaging |
Het |
Cacna1s |
C |
A |
1: 136,015,075 (GRCm39) |
N654K |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,506,469 (GRCm39) |
|
probably benign |
Het |
Ccdc8 |
T |
C |
7: 16,729,326 (GRCm39) |
S272P |
probably damaging |
Het |
Cnot6l |
A |
T |
5: 96,239,535 (GRCm39) |
D255E |
probably benign |
Het |
Ddx1 |
A |
C |
12: 13,274,280 (GRCm39) |
|
probably benign |
Het |
Dyrk1a |
A |
G |
16: 94,492,650 (GRCm39) |
T628A |
probably benign |
Het |
Elavl1 |
A |
T |
8: 4,351,786 (GRCm39) |
I110N |
probably damaging |
Het |
Emilin2 |
C |
G |
17: 71,562,141 (GRCm39) |
D954H |
probably damaging |
Het |
Erich3 |
C |
T |
3: 154,410,586 (GRCm39) |
T147I |
|
Het |
Galnt1 |
A |
T |
18: 24,404,686 (GRCm39) |
H341L |
probably damaging |
Het |
Gm14325 |
A |
T |
2: 177,473,592 (GRCm39) |
C497S |
probably damaging |
Het |
Gm4922 |
A |
T |
10: 18,659,536 (GRCm39) |
N395K |
probably benign |
Het |
Hsd17b2 |
G |
A |
8: 118,469,155 (GRCm39) |
C189Y |
probably damaging |
Het |
Kcnn1 |
A |
T |
8: 71,305,449 (GRCm39) |
S254T |
possibly damaging |
Het |
Lce1l |
G |
C |
3: 92,757,766 (GRCm39) |
P31A |
unknown |
Het |
Lrpprc |
A |
G |
17: 85,080,524 (GRCm39) |
Y199H |
probably damaging |
Het |
Lrrtm3 |
A |
T |
10: 63,925,487 (GRCm39) |
|
probably null |
Het |
Mon2 |
G |
T |
10: 122,838,688 (GRCm39) |
A1598E |
probably damaging |
Het |
Myh3 |
A |
T |
11: 66,986,833 (GRCm39) |
|
probably null |
Het |
Naa11 |
A |
T |
5: 97,539,737 (GRCm39) |
D140E |
probably damaging |
Het |
Nadk2 |
G |
A |
15: 9,103,420 (GRCm39) |
R350Q |
probably benign |
Het |
Npc1 |
T |
C |
18: 12,326,455 (GRCm39) |
I1162V |
probably damaging |
Het |
Or4e1 |
A |
G |
14: 52,701,280 (GRCm39) |
M62T |
probably damaging |
Het |
Or5v1 |
T |
C |
17: 37,810,148 (GRCm39) |
I202T |
probably benign |
Het |
Otogl |
A |
T |
10: 107,613,461 (GRCm39) |
N2001K |
possibly damaging |
Het |
Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,171,912 (GRCm39) |
|
probably null |
Het |
Ppp2r5c |
A |
T |
12: 110,512,259 (GRCm39) |
T185S |
possibly damaging |
Het |
Psd2 |
A |
T |
18: 36,112,766 (GRCm39) |
S154C |
probably damaging |
Het |
Rnasel |
G |
A |
1: 153,630,734 (GRCm39) |
V417M |
possibly damaging |
Het |
Slc35g2 |
A |
G |
9: 100,434,841 (GRCm39) |
S277P |
probably damaging |
Het |
Slc36a2 |
A |
T |
11: 55,070,158 (GRCm39) |
W140R |
possibly damaging |
Het |
Slc6a12 |
A |
G |
6: 121,340,250 (GRCm39) |
K512E |
probably damaging |
Het |
Sox7 |
C |
T |
14: 64,181,275 (GRCm39) |
S24L |
probably benign |
Het |
Specc1 |
A |
G |
11: 62,023,171 (GRCm39) |
K659E |
probably damaging |
Het |
Stx18 |
T |
A |
5: 38,285,383 (GRCm39) |
|
probably null |
Het |
Svs5 |
C |
A |
2: 164,080,091 (GRCm39) |
G25W |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,297,829 (GRCm39) |
M1156T |
probably benign |
Het |
Tars2 |
T |
A |
3: 95,658,271 (GRCm39) |
I185F |
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,396,612 (GRCm39) |
I839V |
|
Het |
Vmn1r115 |
T |
C |
7: 20,578,819 (GRCm39) |
N31S |
probably damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,224,024 (GRCm39) |
D183G |
probably damaging |
Het |
Wdr7 |
C |
T |
18: 63,868,756 (GRCm39) |
T275I |
probably damaging |
Het |
Ybx2 |
A |
G |
11: 69,831,194 (GRCm39) |
E263G |
probably damaging |
Het |
Zbtb6 |
G |
T |
2: 37,319,896 (GRCm39) |
Q11K |
probably benign |
Het |
Zfp329 |
A |
T |
7: 12,544,116 (GRCm39) |
C469* |
probably null |
Het |
Zfp868 |
A |
T |
8: 70,066,446 (GRCm39) |
L40H |
probably damaging |
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 |
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 |
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'- AAGTTCTCGGACTCTGCAGG -3'
(R):5'- TCCAAGTACCAGGCTCAAGG -3'
Sequencing Primer
(F):5'- ACTCTGCAGGGGTGAAGC -3'
(R):5'- CTGCCAGAGAGGAAGGTGAGTAC -3'
|
Posted On |
2020-07-28 |