Incidental Mutation 'R6893:Cnksr3'
| ID |
538165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnksr3
|
| Ensembl Gene |
ENSMUSG00000015202 |
| Gene Name |
Cnksr family member 3 |
| Synonyms |
Magi1 |
| MMRRC Submission |
044987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6893 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
7069063-7162237 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 7085129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015346]
[ENSMUST00000015346]
[ENSMUST00000150282]
|
| AlphaFold |
Q8BMA3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015346
|
| SMART Domains |
Protein: ENSMUSP00000015346
Gene: ENSMUSG00000015202
| 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 null
Transcript: ENSMUST00000015346
|
| SMART Domains |
Protein: ENSMUSP00000015346
Gene: ENSMUSG00000015202
| 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: 99.9%
- 3x: 99.8%
- 10x: 98.7%
- 20x: 95.2%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
A |
8: 25,368,770 (GRCm39) |
D538V |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,011,709 (GRCm39) |
I804T |
probably benign |
Het |
| Amy1 |
T |
C |
3: 113,357,281 (GRCm39) |
E186G |
probably benign |
Het |
| Best1 |
A |
G |
19: 9,974,446 (GRCm39) |
Y33H |
probably damaging |
Het |
| Cacna1s |
C |
A |
1: 136,005,431 (GRCm39) |
N405K |
probably benign |
Het |
| Casp7 |
T |
C |
19: 56,421,741 (GRCm39) |
Y60H |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,626,488 (GRCm39) |
N367S |
possibly damaging |
Het |
| Col14a1 |
A |
C |
15: 55,308,044 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,323,784 (GRCm39) |
K424* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,786,184 (GRCm39) |
E366G |
probably damaging |
Het |
| Dpep3 |
T |
C |
8: 106,700,474 (GRCm39) |
K411E |
probably benign |
Het |
| Ebf2 |
T |
A |
14: 67,475,008 (GRCm39) |
V81E |
probably benign |
Het |
| Ehbp1 |
G |
T |
11: 21,964,945 (GRCm39) |
T1084K |
probably damaging |
Het |
| Fastkd2 |
C |
T |
1: 63,770,953 (GRCm39) |
A103V |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,323,722 (GRCm39) |
K525E |
probably benign |
Het |
| Hdac2 |
A |
G |
10: 36,873,003 (GRCm39) |
E287G |
probably damaging |
Het |
| Ifi207 |
T |
A |
1: 173,555,208 (GRCm39) |
T832S |
possibly damaging |
Het |
| Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,909,149 (GRCm39) |
D55G |
possibly damaging |
Het |
| Lipo2 |
G |
T |
19: 33,698,407 (GRCm39) |
Y323* |
probably null |
Het |
| Mettl24 |
C |
T |
10: 40,613,794 (GRCm39) |
R178C |
probably damaging |
Het |
| Naa80 |
A |
G |
9: 107,460,225 (GRCm39) |
E40G |
probably damaging |
Het |
| Ndrg4 |
C |
A |
8: 96,433,229 (GRCm39) |
C66* |
probably null |
Het |
| Nemf |
A |
G |
12: 69,399,110 (GRCm39) |
V140A |
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,839,855 (GRCm39) |
F815I |
probably benign |
Het |
| Or4c108 |
A |
G |
2: 88,804,143 (GRCm39) |
F31L |
probably benign |
Het |
| Or5b106 |
A |
C |
19: 13,123,106 (GRCm39) |
S306A |
probably benign |
Het |
| Or8b12c |
A |
C |
9: 37,716,141 (GRCm39) |
*311C |
probably null |
Het |
| Or8b3b |
A |
T |
9: 38,584,355 (GRCm39) |
N141K |
possibly damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,136 (GRCm39) |
E111G |
probably damaging |
Het |
| Pcdhga3 |
T |
C |
18: 37,809,598 (GRCm39) |
S684P |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,660,562 (GRCm39) |
C352* |
probably null |
Het |
| Plscr2 |
G |
A |
9: 92,172,757 (GRCm39) |
V139I |
probably benign |
Het |
| Ppa1 |
T |
A |
10: 61,508,182 (GRCm39) |
C270S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,844,540 (GRCm39) |
M399L |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,356,098 (GRCm39) |
V212A |
possibly damaging |
Het |
| Serpina3b |
A |
G |
12: 104,099,285 (GRCm39) |
K267E |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,090,063 (GRCm39) |
T938A |
probably damaging |
Het |
| Specc1 |
A |
C |
11: 62,023,279 (GRCm39) |
S115R |
probably benign |
Het |
| Stim2 |
C |
T |
5: 54,210,787 (GRCm39) |
T74I |
probably benign |
Het |
| Sult6b2 |
T |
A |
6: 142,750,025 (GRCm39) |
D31V |
possibly damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,401,492 (GRCm39) |
W406R |
probably damaging |
Het |
| Tmprss11b |
A |
G |
5: 86,811,245 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
A |
G |
15: 72,797,499 (GRCm39) |
Y575H |
possibly damaging |
Het |
| Trim63 |
C |
T |
4: 134,050,412 (GRCm39) |
T232M |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,598,180 (GRCm39) |
S19578T |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Xpo4 |
T |
A |
14: 57,819,767 (GRCm39) |
E1139D |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGGAAATACAGGGTACACATTG -3'
(R):5'- GGCTATCCACTGTAGCCAAC -3'
Sequencing Primer
(F):5'- CAGTTGCCTATCATGACAGGTCTAG -3'
(R):5'- TCCACTGTAGCCAACATCATAATAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation