Incidental Mutation 'R9195:Cnksr3'
| ID |
697906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnksr3
|
| Ensembl Gene |
ENSMUSG00000015202 |
| Gene Name |
Cnksr family member 3 |
| Synonyms |
Magi1 |
| MMRRC Submission |
068954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9195 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
7069063-7162237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7088379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 235
(H235Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015346]
[ENSMUST00000150282]
|
| AlphaFold |
Q8BMA3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015346
AA Change: H235Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015346
Gene: ENSMUSG00000015202
AA Change: H235Q
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
4 |
72 |
7.25e-15 |
SMART |
|
Pfam:CRIC_ras_sig
|
80 |
172 |
3.3e-39 |
PFAM |
|
PDZ
|
221 |
293 |
4.65e-10 |
SMART |
|
low complexity region
|
311 |
329 |
N/A |
INTRINSIC |
|
Pfam:DUF1170
|
332 |
545 |
3.6e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150282
|
| SMART Domains |
Protein: ENSMUSP00000115863
Gene: ENSMUSG00000015202
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDZ
|
1 |
49 |
6e-8 |
PFAM |
|
low complexity region
|
70 |
88 |
N/A |
INTRINSIC |
|
Pfam:DUF1170
|
89 |
305 |
4.4e-90 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot10 |
G |
C |
15: 20,665,517 (GRCm39) |
T408R |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,283,479 (GRCm39) |
Y1310C |
|
Het |
| Atp6v1c1 |
T |
A |
15: 38,674,198 (GRCm39) |
F64I |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,167,337 (GRCm39) |
E1246G |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,463,418 (GRCm39) |
S1061T |
possibly damaging |
Het |
| Brd10 |
A |
G |
19: 29,763,703 (GRCm39) |
I124T |
|
Het |
| Cep83 |
A |
G |
10: 94,604,801 (GRCm39) |
R505G |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,671,045 (GRCm39) |
E382G |
probably benign |
Het |
| Ctsh |
A |
T |
9: 89,944,815 (GRCm39) |
H90L |
probably benign |
Het |
| Cybrd1 |
G |
A |
2: 70,968,742 (GRCm39) |
G205D |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,161,455 (GRCm39) |
I345N |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,525,446 (GRCm39) |
L67P |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,018,836 (GRCm39) |
N612S |
probably benign |
Het |
| Gm8186 |
T |
A |
17: 26,318,092 (GRCm39) |
D35V |
probably damaging |
Het |
| Ighv1-15 |
T |
C |
12: 114,621,139 (GRCm39) |
H62R |
probably benign |
Het |
| Kcns1 |
A |
T |
2: 164,009,778 (GRCm39) |
L327Q |
probably damaging |
Het |
| Lbr |
T |
C |
1: 181,663,837 (GRCm39) |
K61R |
probably benign |
Het |
| Mrpl36 |
G |
A |
13: 73,479,498 (GRCm39) |
A3T |
unknown |
Het |
| Nectin3 |
G |
A |
16: 46,279,259 (GRCm39) |
R240* |
probably null |
Het |
| Nek10 |
T |
C |
14: 14,821,139 (GRCm38) |
L35P |
probably benign |
Het |
| Nr1d1 |
A |
G |
11: 98,659,883 (GRCm39) |
V547A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,942,040 (GRCm39) |
I4445N |
probably damaging |
Het |
| Or51i2 |
T |
C |
7: 103,689,345 (GRCm39) |
I114T |
probably damaging |
Het |
| Pcdhgb1 |
T |
G |
18: 37,814,157 (GRCm39) |
V216G |
probably damaging |
Het |
| Pklr |
T |
C |
3: 89,048,636 (GRCm39) |
S100P |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,089,975 (GRCm39) |
S70T |
probably benign |
Het |
| Rec114 |
T |
G |
9: 58,567,534 (GRCm39) |
T151P |
probably benign |
Het |
| Riok3 |
TTTCATT |
TTT |
18: 12,282,642 (GRCm39) |
|
probably null |
Het |
| Slc33a1 |
A |
G |
3: 63,871,188 (GRCm39) |
S142P |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,281,055 (GRCm39) |
N407K |
possibly damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,898,149 (GRCm39) |
C522R |
probably damaging |
Het |
| Tcim |
A |
T |
8: 24,928,878 (GRCm39) |
M12K |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,542,126 (GRCm39) |
Y1917N |
probably damaging |
Het |
| Ttll1 |
A |
G |
15: 83,373,779 (GRCm39) |
Y345H |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,589,638 (GRCm39) |
V381A |
probably benign |
Het |
| Wnt16 |
T |
C |
6: 22,297,932 (GRCm39) |
M266T |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,311,168 (GRCm39) |
I1562V |
probably benign |
Het |
|
| Other mutations in Cnksr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01303:Cnksr3
|
APN |
10 |
7,104,281 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01583:Cnksr3
|
APN |
10 |
7,070,512 (GRCm39) |
missense |
probably benign |
|
|
IGL02374:Cnksr3
|
APN |
10 |
7,070,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02541:Cnksr3
|
APN |
10 |
7,085,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02551:Cnksr3
|
APN |
10 |
7,102,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02975:Cnksr3
|
APN |
10 |
7,088,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0652:Cnksr3
|
UTSW |
10 |
7,070,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1451:Cnksr3
|
UTSW |
10 |
7,076,830 (GRCm39) |
missense |
probably null |
0.93 |
|
R1453:Cnksr3
|
UTSW |
10 |
7,079,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1847:Cnksr3
|
UTSW |
10 |
7,104,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1852:Cnksr3
|
UTSW |
10 |
7,070,539 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3002:Cnksr3
|
UTSW |
10 |
7,102,856 (GRCm39) |
splice site |
probably benign |
|
|
R4621:Cnksr3
|
UTSW |
10 |
7,076,182 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4835:Cnksr3
|
UTSW |
10 |
7,110,757 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4941:Cnksr3
|
UTSW |
10 |
7,102,925 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4981:Cnksr3
|
UTSW |
10 |
7,110,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5000:Cnksr3
|
UTSW |
10 |
7,076,746 (GRCm39) |
nonsense |
probably null |
|
|
R5001:Cnksr3
|
UTSW |
10 |
7,076,746 (GRCm39) |
nonsense |
probably null |
|
|
R5267:Cnksr3
|
UTSW |
10 |
7,076,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5322:Cnksr3
|
UTSW |
10 |
7,085,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5623:Cnksr3
|
UTSW |
10 |
7,070,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Cnksr3
|
UTSW |
10 |
7,092,977 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5930:Cnksr3
|
UTSW |
10 |
7,092,993 (GRCm39) |
missense |
probably benign |
|
|
R6459:Cnksr3
|
UTSW |
10 |
7,076,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6893:Cnksr3
|
UTSW |
10 |
7,085,129 (GRCm39) |
splice site |
probably null |
|
|
R6941:Cnksr3
|
UTSW |
10 |
7,076,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6949:Cnksr3
|
UTSW |
10 |
7,110,757 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7075:Cnksr3
|
UTSW |
10 |
7,102,931 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7487:Cnksr3
|
UTSW |
10 |
7,085,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8165:Cnksr3
|
UTSW |
10 |
7,104,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8181:Cnksr3
|
UTSW |
10 |
7,070,475 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8472:Cnksr3
|
UTSW |
10 |
7,084,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8885:Cnksr3
|
UTSW |
10 |
7,090,201 (GRCm39) |
unclassified |
probably benign |
|
|
R8887:Cnksr3
|
UTSW |
10 |
7,104,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8930:Cnksr3
|
UTSW |
10 |
7,110,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Cnksr3
|
UTSW |
10 |
7,110,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Cnksr3
|
UTSW |
10 |
7,079,021 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Cnksr3
|
UTSW |
10 |
7,084,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGGATAAATACAACCGGCC -3'
(R):5'- AAAGAGTCACTTATCTACCTGTCTG -3'
Sequencing Primer
(F):5'- GGGATAAATACAACCGGCCATTGTC -3'
(R):5'- GATCTCATCTACATTCAGTTGCTTAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation