Incidental Mutation 'R5844:Cnksr1'
| ID |
450580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnksr1
|
| Ensembl Gene |
ENSMUSG00000028841 |
| Gene Name |
connector enhancer of kinase suppressor of Ras 1 |
| Synonyms |
|
| MMRRC Submission |
044062-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.287)
|
| Stock # |
R5844 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133955352-133965710 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 133955575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030645]
[ENSMUST00000055892]
[ENSMUST00000105878]
[ENSMUST00000169381]
|
| 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 |
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (55/56) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
T |
15: 81,950,065 (GRCm39) |
M1321L |
probably benign |
Het |
| Adra1a |
C |
T |
14: 66,965,183 (GRCm39) |
T391I |
probably benign |
Het |
| Atf7ip |
C |
A |
6: 136,583,812 (GRCm39) |
A1281D |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,866,023 (GRCm39) |
N141S |
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,397,257 (GRCm39) |
L1082Q |
possibly damaging |
Het |
| Cavin2 |
C |
T |
1: 51,328,998 (GRCm39) |
R152C |
probably damaging |
Het |
| Ccdc33 |
C |
T |
9: 57,940,489 (GRCm39) |
|
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,784,135 (GRCm39) |
D466G |
probably benign |
Het |
| Cfap46 |
C |
A |
7: 139,230,858 (GRCm39) |
M923I |
probably damaging |
Het |
| Chd1l |
T |
A |
3: 97,479,883 (GRCm39) |
K621N |
probably benign |
Het |
| Cym |
T |
C |
3: 107,127,080 (GRCm39) |
H25R |
probably benign |
Het |
| Dagla |
T |
A |
19: 10,248,489 (GRCm39) |
D57V |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Dse |
T |
A |
10: 34,029,038 (GRCm39) |
D684V |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,058,760 (GRCm39) |
S326T |
probably benign |
Het |
| Galntl5 |
G |
T |
5: 25,391,091 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,453,232 (GRCm39) |
R290G |
possibly damaging |
Het |
| Gtpbp3 |
A |
G |
8: 71,945,199 (GRCm39) |
T425A |
probably benign |
Het |
| Hepacam2 |
A |
G |
6: 3,476,073 (GRCm39) |
I284T |
probably damaging |
Het |
| Ifi205 |
A |
C |
1: 173,854,258 (GRCm39) |
|
probably null |
Het |
| Irs3 |
T |
C |
5: 137,642,548 (GRCm39) |
T297A |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,039,036 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
C |
1: 52,697,542 (GRCm39) |
S782G |
probably benign |
Het |
| Mis18a |
G |
A |
16: 90,523,969 (GRCm39) |
|
silent |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,181,182 (GRCm39) |
|
probably null |
Het |
| Ntaq1 |
A |
G |
15: 58,017,056 (GRCm39) |
N157S |
probably benign |
Het |
| Or13a1 |
A |
T |
6: 116,470,900 (GRCm39) |
E110V |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,239 (GRCm39) |
V142A |
probably benign |
Het |
| Pde3b |
C |
T |
7: 114,108,106 (GRCm39) |
T568I |
probably benign |
Het |
| Pip4p1 |
T |
C |
14: 51,166,499 (GRCm39) |
T160A |
probably benign |
Het |
| Pkhd1 |
G |
T |
1: 20,451,685 (GRCm39) |
D2203E |
probably benign |
Het |
| Ppp1r36 |
A |
G |
12: 76,473,566 (GRCm39) |
K66E |
possibly damaging |
Het |
| Rfc1 |
C |
A |
5: 65,451,130 (GRCm39) |
M319I |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Runx1t1 |
T |
C |
4: 13,881,068 (GRCm39) |
V456A |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,966,589 (GRCm39) |
K109R |
probably benign |
Het |
| Sgo2a |
T |
G |
1: 58,055,556 (GRCm39) |
V580G |
probably damaging |
Het |
| Skint9 |
T |
C |
4: 112,271,080 (GRCm39) |
Q110R |
probably benign |
Het |
| Slc38a9 |
A |
G |
13: 112,868,035 (GRCm39) |
Y507C |
probably damaging |
Het |
| Smarca4 |
T |
A |
9: 21,589,238 (GRCm39) |
|
probably benign |
Het |
| Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tns3 |
A |
C |
11: 8,384,580 (GRCm39) |
F1413V |
probably damaging |
Het |
| Trpm8 |
T |
C |
1: 88,312,433 (GRCm39) |
*1105Q |
probably null |
Het |
| Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
| Zim1 |
T |
C |
7: 6,681,115 (GRCm39) |
R183G |
probably benign |
Het |
| Zmiz1 |
T |
C |
14: 25,657,354 (GRCm39) |
S871P |
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 |
|
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'- TTTGGTGGAAAAGCGGCTC -3'
(R):5'- AGCTATACTCAGAGGGCCTG -3'
Sequencing Primer
(F):5'- GCGGCTCTCGTGTAAAATAAAC -3'
(R):5'- TCAGAGGGCCTGAGAACCTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation