Incidental Mutation 'R2917:Camta2'
ID |
254912 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camta2
|
Ensembl Gene |
ENSMUSG00000040712 |
Gene Name |
calmodulin binding transcription activator 2 |
Synonyms |
Kiaa0909-hp |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.496)
|
Stock # |
R2917 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
70560289-70578931 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70571787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 479
(F479S)
|
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: F508S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043792 Gene: ENSMUSG00000040712 AA Change: F508S
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: F505S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000098493 Gene: ENSMUSG00000040712 AA Change: F505S
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 |
possibly damaging
Transcript: ENSMUST00000108544
AA Change: F503S
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104184 Gene: ENSMUSG00000040712 AA Change: F503S
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: F479S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104185 Gene: ENSMUSG00000040712 AA Change: F479S
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: F503S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113847 Gene: ENSMUSG00000040712 AA Change: F503S
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: F479S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113667 Gene: ENSMUSG00000040712 AA Change: F479S
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 |
noncoding transcript
Transcript: ENSMUST00000150224
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
A |
17: 57,192,141 (GRCm39) |
V568E |
probably damaging |
Het |
Ap3m2 |
A |
G |
8: 23,289,815 (GRCm39) |
V96A |
probably benign |
Het |
Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
Brd7 |
A |
G |
8: 89,069,408 (GRCm39) |
I429T |
probably damaging |
Het |
Cacna1h |
A |
C |
17: 25,614,426 (GRCm39) |
L230R |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,227,572 (GRCm39) |
Y2505* |
probably null |
Het |
Colgalt2 |
T |
A |
1: 152,347,495 (GRCm39) |
V143D |
probably damaging |
Het |
Dnaja1 |
C |
T |
4: 40,724,052 (GRCm39) |
A71V |
possibly damaging |
Het |
Gpr33 |
A |
G |
12: 52,070,379 (GRCm39) |
V220A |
possibly damaging |
Het |
Hsph1 |
A |
T |
5: 149,554,251 (GRCm39) |
L168* |
probably null |
Het |
Lig4 |
T |
A |
8: 10,021,596 (GRCm39) |
E728V |
possibly damaging |
Het |
Mrps23 |
T |
C |
11: 88,100,743 (GRCm39) |
S75P |
probably damaging |
Het |
Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
Or5af2 |
A |
G |
11: 58,708,314 (GRCm39) |
N160S |
probably damaging |
Het |
Prss50 |
G |
T |
9: 110,691,613 (GRCm39) |
G306C |
probably null |
Het |
Rnf149 |
A |
T |
1: 39,591,564 (GRCm39) |
S392T |
probably benign |
Het |
Scn8a |
T |
A |
15: 100,937,613 (GRCm39) |
F1661I |
probably damaging |
Het |
Slc12a8 |
T |
A |
16: 33,371,296 (GRCm39) |
I144N |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,021,004 (GRCm39) |
L630* |
probably null |
Het |
Tmem131l |
G |
A |
3: 83,844,887 (GRCm39) |
R441* |
probably null |
Het |
Trim63 |
T |
C |
4: 134,050,462 (GRCm39) |
Y249H |
probably damaging |
Het |
Vmn2r125 |
T |
G |
4: 156,703,564 (GRCm39) |
L314R |
probably benign |
Het |
Vwf |
A |
G |
6: 125,585,106 (GRCm39) |
N663D |
probably benign |
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 |
|
R4115:Camta2
|
UTSW |
11 |
70,567,300 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4321:Camta2
|
UTSW |
11 |
70,569,151 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCTGAGAGAGCAGGTCACAG -3'
(R):5'- TTTATCCAAGATGATGATAGTGGGG -3'
Sequencing Primer
(F):5'- CGTGGGGATAAGGGTTAACAACATTC -3'
(R):5'- CCAAGATGATGATAGTGGGGAGGAAC -3'
|
Posted On |
2014-12-29 |