Incidental Mutation 'IGL02374:Cnksr3'
| ID |
291036 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnksr3
|
| Ensembl Gene |
ENSMUSG00000015202 |
| Gene Name |
Cnksr family member 3 |
| Synonyms |
Magi1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
7069063-7162237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7070335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 300
(S300P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015346]
[ENSMUST00000150282]
|
| AlphaFold |
Q8BMA3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015346
AA Change: S541P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015346
Gene: ENSMUSG00000015202
AA Change: S541P
| 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 damaging
Transcript: ENSMUST00000150282
AA Change: S300P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115863
Gene: ENSMUSG00000015202
AA Change: S300P
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5b |
T |
C |
2: 15,073,003 (GRCm39) |
Y35H |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,211,486 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Cyp39a1 |
A |
G |
17: 44,060,872 (GRCm39) |
|
probably benign |
Het |
| Deptor |
G |
T |
15: 55,044,357 (GRCm39) |
L174F |
probably damaging |
Het |
| Fah |
T |
C |
7: 84,254,909 (GRCm39) |
E8G |
probably benign |
Het |
| Fastk |
C |
A |
5: 24,649,247 (GRCm39) |
A47S |
possibly damaging |
Het |
| Foxl2 |
C |
T |
9: 98,837,885 (GRCm39) |
L58F |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,074,108 (GRCm39) |
Q347R |
possibly damaging |
Het |
| Igf2bp2 |
G |
T |
16: 21,900,618 (GRCm39) |
H106Q |
probably benign |
Het |
| Igkv12-47 |
T |
C |
6: 69,727,959 (GRCm39) |
T71A |
probably benign |
Het |
| Ino80d |
T |
C |
1: 63,125,220 (GRCm39) |
I81V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,276,782 (GRCm39) |
E650K |
probably benign |
Het |
| Klc2 |
T |
C |
19: 5,160,438 (GRCm39) |
N408S |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,743,856 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
C |
T |
11: 78,919,317 (GRCm39) |
G504D |
probably benign |
Het |
| Lonp2 |
C |
A |
8: 87,435,673 (GRCm39) |
D636E |
probably damaging |
Het |
| Lpin3 |
G |
A |
2: 160,737,758 (GRCm39) |
|
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 9,982,207 (GRCm39) |
A56V |
possibly damaging |
Het |
| Or10al7 |
A |
T |
17: 38,366,412 (GRCm39) |
V24D |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,803 (GRCm39) |
I46N |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,685,481 (GRCm39) |
I1163T |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,599 (GRCm39) |
V772I |
probably damaging |
Het |
| Ptbp2 |
A |
T |
3: 119,514,342 (GRCm39) |
|
probably benign |
Het |
| Rell1 |
A |
T |
5: 64,095,151 (GRCm39) |
I105K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,832,789 (GRCm39) |
S1003T |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,520,832 (GRCm39) |
|
probably benign |
Het |
| Stap1 |
G |
A |
5: 86,244,410 (GRCm39) |
G264R |
probably damaging |
Het |
| Tmem176b |
T |
C |
6: 48,811,560 (GRCm39) |
N30D |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,832,056 (GRCm39) |
Y367N |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,611,815 (GRCm39) |
D1061G |
probably damaging |
Het |
| Ufl1 |
A |
C |
4: 25,259,237 (GRCm39) |
D460E |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,048 (GRCm39) |
I138V |
probably benign |
Het |
| Wdfy2 |
T |
C |
14: 63,171,833 (GRCm39) |
S194P |
probably benign |
Het |
| Zfp408 |
A |
C |
2: 91,476,156 (GRCm39) |
C333G |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,674,731 (GRCm39) |
V565A |
probably damaging |
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 |
|
|
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 |
|
R9195:Cnksr3
|
UTSW |
10 |
7,088,379 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation