Incidental Mutation 'R4321:Camta2'
ID |
323839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camta2
|
Ensembl Gene |
ENSMUSG00000040712 |
Gene Name |
calmodulin binding transcription activator 2 |
Synonyms |
Kiaa0909-hp |
MMRRC Submission |
041662-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.496)
|
Stock # |
R4321 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70560289-70578931 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 70569151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 598
(L598Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036299]
[ENSMUST00000100933]
[ENSMUST00000108544]
[ENSMUST00000108545]
[ENSMUST00000119120]
[ENSMUST00000120261]
[ENSMUST00000145823]
|
AlphaFold |
Q80Y50 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036299
AA Change: L627Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043792 Gene: ENSMUSG00000040712 AA Change: L627Q
Domain | Start | End | E-Value | Type |
CG-1
|
34 |
155 |
1.07e-83 |
SMART |
low complexity region
|
232 |
243 |
N/A |
INTRINSIC |
low complexity region
|
273 |
291 |
N/A |
INTRINSIC |
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
low complexity region
|
314 |
329 |
N/A |
INTRINSIC |
low complexity region
|
370 |
380 |
N/A |
INTRINSIC |
low complexity region
|
417 |
435 |
N/A |
INTRINSIC |
low complexity region
|
461 |
485 |
N/A |
INTRINSIC |
low complexity region
|
501 |
514 |
N/A |
INTRINSIC |
Pfam:TIG
|
541 |
621 |
6.2e-13 |
PFAM |
low complexity region
|
660 |
679 |
N/A |
INTRINSIC |
Blast:ANK
|
717 |
750 |
7e-12 |
BLAST |
SCOP:d1myo__
|
718 |
816 |
2e-15 |
SMART |
Blast:ANK
|
762 |
792 |
4e-11 |
BLAST |
low complexity region
|
829 |
839 |
N/A |
INTRINSIC |
low complexity region
|
844 |
853 |
N/A |
INTRINSIC |
low complexity region
|
861 |
882 |
N/A |
INTRINSIC |
IQ
|
1053 |
1075 |
2.59e2 |
SMART |
IQ
|
1076 |
1092 |
2.38e2 |
SMART |
IQ
|
1106 |
1128 |
5.42e0 |
SMART |
low complexity region
|
1140 |
1157 |
N/A |
INTRINSIC |
low complexity region
|
1180 |
1190 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100933
AA Change: L624Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098493 Gene: ENSMUSG00000040712 AA Change: L624Q
Domain | Start | End | E-Value | Type |
CG-1
|
36 |
152 |
8.08e-88 |
SMART |
low complexity region
|
229 |
240 |
N/A |
INTRINSIC |
low complexity region
|
270 |
288 |
N/A |
INTRINSIC |
low complexity region
|
291 |
302 |
N/A |
INTRINSIC |
low complexity region
|
311 |
326 |
N/A |
INTRINSIC |
low complexity region
|
367 |
377 |
N/A |
INTRINSIC |
low complexity region
|
414 |
432 |
N/A |
INTRINSIC |
low complexity region
|
458 |
482 |
N/A |
INTRINSIC |
low complexity region
|
498 |
511 |
N/A |
INTRINSIC |
Pfam:TIG
|
538 |
618 |
1.2e-8 |
PFAM |
low complexity region
|
657 |
676 |
N/A |
INTRINSIC |
Blast:ANK
|
714 |
747 |
8e-12 |
BLAST |
SCOP:d1myo__
|
715 |
813 |
2e-15 |
SMART |
Blast:ANK
|
759 |
789 |
4e-11 |
BLAST |
low complexity region
|
826 |
836 |
N/A |
INTRINSIC |
low complexity region
|
841 |
850 |
N/A |
INTRINSIC |
low complexity region
|
858 |
879 |
N/A |
INTRINSIC |
IQ
|
1050 |
1072 |
2.59e2 |
SMART |
IQ
|
1073 |
1095 |
1.18e1 |
SMART |
IQ
|
1096 |
1118 |
5.42e0 |
SMART |
low complexity region
|
1130 |
1147 |
N/A |
INTRINSIC |
low complexity region
|
1170 |
1180 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108544
AA Change: L622Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104184 Gene: ENSMUSG00000040712 AA Change: L622Q
Domain | Start | End | E-Value | Type |
CG-1
|
34 |
150 |
8.08e-88 |
SMART |
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
low complexity region
|
268 |
286 |
N/A |
INTRINSIC |
low complexity region
|
289 |
300 |
N/A |
INTRINSIC |
low complexity region
|
309 |
324 |
N/A |
INTRINSIC |
low complexity region
|
365 |
375 |
N/A |
INTRINSIC |
low complexity region
|
412 |
430 |
N/A |
INTRINSIC |
low complexity region
|
456 |
480 |
N/A |
INTRINSIC |
low complexity region
|
496 |
509 |
N/A |
INTRINSIC |
Pfam:TIG
|
536 |
616 |
1.2e-8 |
PFAM |
low complexity region
|
655 |
674 |
N/A |
INTRINSIC |
Blast:ANK
|
712 |
745 |
7e-12 |
BLAST |
SCOP:d1myo__
|
713 |
811 |
2e-15 |
SMART |
Blast:ANK
|
757 |
787 |
4e-11 |
BLAST |
low complexity region
|
824 |
834 |
N/A |
INTRINSIC |
low complexity region
|
839 |
848 |
N/A |
INTRINSIC |
low complexity region
|
856 |
877 |
N/A |
INTRINSIC |
IQ
|
1048 |
1070 |
2.59e2 |
SMART |
IQ
|
1071 |
1087 |
2.38e2 |
SMART |
IQ
|
1101 |
1123 |
5.42e0 |
SMART |
low complexity region
|
1135 |
1152 |
N/A |
INTRINSIC |
low complexity region
|
1175 |
1185 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108545
AA Change: L598Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104185 Gene: ENSMUSG00000040712 AA Change: L598Q
Domain | Start | End | E-Value | Type |
CG-1
|
34 |
126 |
3.23e-55 |
SMART |
low complexity region
|
203 |
214 |
N/A |
INTRINSIC |
low complexity region
|
244 |
262 |
N/A |
INTRINSIC |
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
low complexity region
|
285 |
300 |
N/A |
INTRINSIC |
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
low complexity region
|
388 |
406 |
N/A |
INTRINSIC |
low complexity region
|
432 |
456 |
N/A |
INTRINSIC |
low complexity region
|
472 |
485 |
N/A |
INTRINSIC |
Pfam:TIG
|
512 |
592 |
1.1e-8 |
PFAM |
low complexity region
|
631 |
650 |
N/A |
INTRINSIC |
Blast:ANK
|
688 |
721 |
7e-12 |
BLAST |
SCOP:d1myo__
|
689 |
787 |
2e-15 |
SMART |
Blast:ANK
|
733 |
763 |
5e-13 |
BLAST |
low complexity region
|
800 |
810 |
N/A |
INTRINSIC |
low complexity region
|
815 |
824 |
N/A |
INTRINSIC |
low complexity region
|
832 |
853 |
N/A |
INTRINSIC |
IQ
|
1024 |
1046 |
2.59e2 |
SMART |
IQ
|
1047 |
1069 |
1.18e1 |
SMART |
IQ
|
1070 |
1092 |
5.42e0 |
SMART |
low complexity region
|
1104 |
1121 |
N/A |
INTRINSIC |
low complexity region
|
1144 |
1154 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119120
AA Change: L622Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113847 Gene: ENSMUSG00000040712 AA Change: L622Q
Domain | Start | End | E-Value | Type |
CG-1
|
34 |
150 |
8.08e-88 |
SMART |
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
low complexity region
|
268 |
286 |
N/A |
INTRINSIC |
low complexity region
|
289 |
300 |
N/A |
INTRINSIC |
low complexity region
|
309 |
324 |
N/A |
INTRINSIC |
low complexity region
|
365 |
375 |
N/A |
INTRINSIC |
low complexity region
|
412 |
430 |
N/A |
INTRINSIC |
low complexity region
|
456 |
480 |
N/A |
INTRINSIC |
low complexity region
|
496 |
509 |
N/A |
INTRINSIC |
Pfam:TIG
|
536 |
616 |
1.1e-8 |
PFAM |
low complexity region
|
655 |
674 |
N/A |
INTRINSIC |
Blast:ANK
|
712 |
745 |
7e-12 |
BLAST |
SCOP:d1myo__
|
713 |
811 |
2e-15 |
SMART |
Blast:ANK
|
757 |
787 |
8e-13 |
BLAST |
low complexity region
|
824 |
834 |
N/A |
INTRINSIC |
low complexity region
|
839 |
848 |
N/A |
INTRINSIC |
low complexity region
|
856 |
877 |
N/A |
INTRINSIC |
IQ
|
1048 |
1070 |
2.59e2 |
SMART |
IQ
|
1071 |
1093 |
1.18e1 |
SMART |
IQ
|
1094 |
1116 |
5.42e0 |
SMART |
low complexity region
|
1128 |
1145 |
N/A |
INTRINSIC |
low complexity region
|
1168 |
1178 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120261
AA Change: L598Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113667 Gene: ENSMUSG00000040712 AA Change: L598Q
Domain | Start | End | E-Value | Type |
CG-1
|
34 |
126 |
3.23e-55 |
SMART |
low complexity region
|
203 |
214 |
N/A |
INTRINSIC |
low complexity region
|
244 |
262 |
N/A |
INTRINSIC |
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
low complexity region
|
285 |
300 |
N/A |
INTRINSIC |
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
low complexity region
|
388 |
406 |
N/A |
INTRINSIC |
low complexity region
|
432 |
456 |
N/A |
INTRINSIC |
low complexity region
|
472 |
485 |
N/A |
INTRINSIC |
Pfam:TIG
|
512 |
592 |
1e-8 |
PFAM |
low complexity region
|
631 |
650 |
N/A |
INTRINSIC |
Blast:ANK
|
688 |
721 |
7e-12 |
BLAST |
SCOP:d1myo__
|
689 |
787 |
2e-15 |
SMART |
Blast:ANK
|
733 |
763 |
7e-13 |
BLAST |
low complexity region
|
800 |
810 |
N/A |
INTRINSIC |
low complexity region
|
815 |
824 |
N/A |
INTRINSIC |
low complexity region
|
832 |
853 |
N/A |
INTRINSIC |
IQ
|
1024 |
1046 |
2.59e2 |
SMART |
IQ
|
1047 |
1063 |
2.38e2 |
SMART |
IQ
|
1077 |
1099 |
5.42e0 |
SMART |
low complexity region
|
1111 |
1128 |
N/A |
INTRINSIC |
low complexity region
|
1151 |
1161 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125687
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145823
|
SMART Domains |
Protein: ENSMUSP00000123602 Gene: ENSMUSG00000040712
Domain | Start | End | E-Value | Type |
CG-1
|
34 |
137 |
2.55e-44 |
SMART |
low complexity region
|
146 |
165 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4039 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (56/59) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010] PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and free of obvious cardiac defects, but show reduced pathophysiologic cardiac hypertrophy in response to diverse stress stimuli. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
T |
10: 29,100,887 (GRCm39) |
D420V |
probably damaging |
Het |
Als2 |
A |
C |
1: 59,206,613 (GRCm39) |
|
probably benign |
Het |
Ankrd9 |
A |
G |
12: 110,943,074 (GRCm39) |
L287P |
probably damaging |
Het |
Aoc1l1 |
T |
A |
6: 48,953,456 (GRCm39) |
D460E |
probably damaging |
Het |
Bbof1 |
A |
T |
12: 84,473,902 (GRCm39) |
R411* |
probably null |
Het |
Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
Cep85 |
G |
A |
4: 133,859,596 (GRCm39) |
T689I |
probably damaging |
Het |
Clvs1 |
T |
C |
4: 9,282,029 (GRCm39) |
|
probably benign |
Het |
Cpped1 |
T |
C |
16: 11,705,610 (GRCm39) |
T65A |
probably benign |
Het |
Daxx |
T |
C |
17: 34,130,380 (GRCm39) |
Y132H |
possibly damaging |
Het |
Dock7 |
T |
C |
4: 98,960,691 (GRCm39) |
E279G |
probably damaging |
Het |
Dok7 |
A |
T |
5: 35,237,141 (GRCm39) |
|
probably benign |
Het |
Dthd1 |
A |
T |
5: 62,976,033 (GRCm39) |
I236F |
probably damaging |
Het |
Egf |
A |
G |
3: 129,499,783 (GRCm39) |
C285R |
probably damaging |
Het |
Epha4 |
T |
A |
1: 77,483,850 (GRCm39) |
|
probably null |
Het |
Fbxw13 |
A |
C |
9: 109,010,503 (GRCm39) |
I378M |
probably benign |
Het |
Gaa |
A |
T |
11: 119,160,963 (GRCm39) |
N2I |
probably benign |
Het |
Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
Gm2663 |
G |
T |
6: 40,974,530 (GRCm39) |
Q87K |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,385,503 (GRCm39) |
E847G |
probably damaging |
Het |
Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
Ibtk |
T |
C |
9: 85,617,125 (GRCm39) |
D149G |
possibly damaging |
Het |
Ice1 |
A |
T |
13: 70,751,229 (GRCm39) |
V1619E |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,330,948 (GRCm39) |
E1752G |
probably benign |
Het |
Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,078,078 (GRCm39) |
G1171D |
probably benign |
Het |
Lonp2 |
A |
G |
8: 87,392,356 (GRCm39) |
H474R |
probably damaging |
Het |
Mark1 |
G |
T |
1: 184,630,871 (GRCm39) |
D746E |
possibly damaging |
Het |
Mlxipl |
C |
T |
5: 135,164,304 (GRCm39) |
Q167* |
probably null |
Het |
Myo3a |
A |
T |
2: 22,271,966 (GRCm39) |
N162Y |
probably damaging |
Het |
Myo5a |
T |
G |
9: 75,124,812 (GRCm39) |
V1787G |
probably damaging |
Het |
Myorg |
C |
T |
4: 41,498,767 (GRCm39) |
V288I |
probably benign |
Het |
Nrxn3 |
A |
T |
12: 90,166,005 (GRCm39) |
E227V |
probably damaging |
Het |
Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
Rufy2 |
A |
G |
10: 62,818,459 (GRCm39) |
D5G |
probably damaging |
Het |
Rufy4 |
A |
T |
1: 74,171,943 (GRCm39) |
D222V |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
Slamf1 |
T |
C |
1: 171,602,694 (GRCm39) |
|
probably null |
Het |
Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
Tshz2 |
T |
A |
2: 169,727,465 (GRCm39) |
I218N |
possibly damaging |
Het |
Txnl1 |
T |
C |
18: 63,812,561 (GRCm39) |
T78A |
possibly damaging |
Het |
Ulk4 |
T |
G |
9: 120,903,062 (GRCm39) |
R1138S |
probably benign |
Het |
Vamp8 |
A |
C |
6: 72,362,536 (GRCm39) |
V88G |
possibly damaging |
Het |
Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
Zfp850 |
A |
C |
7: 27,688,825 (GRCm39) |
F461C |
probably damaging |
Het |
|
Other mutations in Camta2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01022:Camta2
|
APN |
11 |
70,562,308 (GRCm39) |
nonsense |
probably null |
|
IGL01472:Camta2
|
APN |
11 |
70,574,950 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02548:Camta2
|
APN |
11 |
70,561,511 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02794:Camta2
|
APN |
11 |
70,566,484 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02983:Camta2
|
APN |
11 |
70,562,848 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03035:Camta2
|
APN |
11 |
70,562,335 (GRCm39) |
nonsense |
probably null |
|
weeping
|
UTSW |
11 |
70,574,134 (GRCm39) |
missense |
probably damaging |
1.00 |
Willow
|
UTSW |
11 |
70,569,151 (GRCm39) |
missense |
probably damaging |
1.00 |
P0027:Camta2
|
UTSW |
11 |
70,574,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R0360:Camta2
|
UTSW |
11 |
70,574,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R0364:Camta2
|
UTSW |
11 |
70,574,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R0541:Camta2
|
UTSW |
11 |
70,572,447 (GRCm39) |
missense |
probably benign |
0.01 |
R0600:Camta2
|
UTSW |
11 |
70,564,785 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0630:Camta2
|
UTSW |
11 |
70,569,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R1301:Camta2
|
UTSW |
11 |
70,567,230 (GRCm39) |
missense |
probably benign |
0.18 |
R1346:Camta2
|
UTSW |
11 |
70,567,293 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1826:Camta2
|
UTSW |
11 |
70,574,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R1881:Camta2
|
UTSW |
11 |
70,562,842 (GRCm39) |
missense |
probably benign |
0.00 |
R1980:Camta2
|
UTSW |
11 |
70,573,308 (GRCm39) |
missense |
probably benign |
0.43 |
R2144:Camta2
|
UTSW |
11 |
70,562,401 (GRCm39) |
missense |
probably benign |
0.31 |
R2145:Camta2
|
UTSW |
11 |
70,562,401 (GRCm39) |
missense |
probably benign |
0.31 |
R2763:Camta2
|
UTSW |
11 |
70,573,356 (GRCm39) |
nonsense |
probably null |
|
R2881:Camta2
|
UTSW |
11 |
70,570,490 (GRCm39) |
splice site |
probably null |
|
R2917:Camta2
|
UTSW |
11 |
70,571,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R4115:Camta2
|
UTSW |
11 |
70,567,300 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4470:Camta2
|
UTSW |
11 |
70,571,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R4499:Camta2
|
UTSW |
11 |
70,565,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R4509:Camta2
|
UTSW |
11 |
70,571,844 (GRCm39) |
missense |
probably benign |
0.28 |
R6154:Camta2
|
UTSW |
11 |
70,569,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R6166:Camta2
|
UTSW |
11 |
70,565,087 (GRCm39) |
splice site |
probably null |
|
R6287:Camta2
|
UTSW |
11 |
70,572,295 (GRCm39) |
missense |
probably damaging |
0.98 |
R6382:Camta2
|
UTSW |
11 |
70,562,867 (GRCm39) |
missense |
probably damaging |
0.99 |
R6864:Camta2
|
UTSW |
11 |
70,562,792 (GRCm39) |
missense |
probably benign |
0.00 |
R6922:Camta2
|
UTSW |
11 |
70,564,964 (GRCm39) |
missense |
probably benign |
0.04 |
R7438:Camta2
|
UTSW |
11 |
70,574,714 (GRCm39) |
critical splice donor site |
probably null |
|
R7611:Camta2
|
UTSW |
11 |
70,572,372 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7883:Camta2
|
UTSW |
11 |
70,566,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R8094:Camta2
|
UTSW |
11 |
70,576,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R8232:Camta2
|
UTSW |
11 |
70,573,841 (GRCm39) |
missense |
unknown |
|
R8271:Camta2
|
UTSW |
11 |
70,561,886 (GRCm39) |
missense |
probably benign |
0.05 |
R8973:Camta2
|
UTSW |
11 |
70,561,184 (GRCm39) |
missense |
probably benign |
0.05 |
R9072:Camta2
|
UTSW |
11 |
70,567,234 (GRCm39) |
missense |
probably benign |
0.21 |
T0722:Camta2
|
UTSW |
11 |
70,574,831 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Camta2
|
UTSW |
11 |
70,572,504 (GRCm39) |
missense |
probably benign |
0.08 |
Z1177:Camta2
|
UTSW |
11 |
70,566,047 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCTAGTGCACATTCCCAC -3'
(R):5'- GACGTGTGAAATAACCATCACTG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CTGGCTCTAATATAACTAATGGGCCG -3'
|
Genotyping |
Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.
PCR Primers
R43210045_PCR_F: 5’- TGCTAGTGCACATTCCCAC-3’
R43210045_PCR_R: 5’- GACGTGTGAAATAACCATCACTG-3’ Sequencing Primers
R43210045_SEQ_F: 5’- TGGAACTCACTCTGTAGACCAGG-3’
R43210045_SEQ_R: 5’- CTGGCTCTAATATAACTAATGGGCCG-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C hold The following sequence of 647 nucleotides is amplified (NCBI RefSeq: NC_000077, chromosome 11:70677864-70678510): tgctagtgca cattcccact tttgtttgtt tttctgtaat ttctaacagt cctataatga
aaacatcctt atcatccaaa agaaaaacat aaaaataagt agcctatagg tttttttttt
agtatttttc ttttcttttt tctttttttt ctttttttta atttttttgg tttttcgaga
cagggtttct ctgtgtagcc ttggctgtcc tggaactcac tctgtagacc aggctgacct
cgaactcaga aatccacctt cctctgcctc ccaagtgctg ggattaaagt cgagagccat
cactgcctgg ctaattttta ttttatatgc atgggagttc tgcctgcatg tatgactgtg
caccactctt atgcaaacat gtcatgccta agaccttggg tcaaagggct cagtactcac
catccagtga caaccagtcg agctgtgtac taggcagaga caggaaccgg cgggctcgat
actcaaagag cacagaggca gagagggggc cctctcgccc cgccacctgc aaagacacca
gccctacctc atgggctggg gagagcaggt caggagaagg ctcattcccc agctcctttc
ccggcccatt agttatatta gagccagtga tggttatttc acacgtc Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. + = A>T)
|
Posted On |
2015-06-24 |