Incidental Mutation 'R8271:Camta2'
| ID |
637732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camta2
|
| Ensembl Gene |
ENSMUSG00000040712 |
| Gene Name |
calmodulin binding transcription activator 2 |
| Synonyms |
Kiaa0909-hp |
| MMRRC Submission |
067652-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.496)
|
| Stock # |
R8271 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70560289-70578931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70561886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1076
(Q1076L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018431]
[ENSMUST00000036299]
[ENSMUST00000100933]
[ENSMUST00000108544]
[ENSMUST00000108545]
[ENSMUST00000119120]
[ENSMUST00000120261]
[ENSMUST00000129434]
[ENSMUST00000145823]
|
| AlphaFold |
Q80Y50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018431
|
| SMART Domains |
Protein: ENSMUSP00000018431
Gene: ENSMUSG00000018287
| Domain | Start | End | E-Value | Type |
|---|
|
R3H
|
31 |
109 |
3.85e-21 |
SMART |
|
low complexity region
|
130 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036299
AA Change: Q1076L
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000043792
Gene: ENSMUSG00000040712
AA Change: Q1076L
| 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 benign
Transcript: ENSMUST00000100933
AA Change: Q1073L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000098493
Gene: ENSMUSG00000040712
AA Change: Q1073L
| 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 benign
Transcript: ENSMUST00000108544
AA Change: Q1071L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104184
Gene: ENSMUSG00000040712
AA Change: Q1071L
| 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 benign
Transcript: ENSMUST00000108545
AA Change: Q1047L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104185
Gene: ENSMUSG00000040712
AA Change: Q1047L
| 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 benign
Transcript: ENSMUST00000119120
AA Change: Q1071L
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113847
Gene: ENSMUSG00000040712
AA Change: Q1071L
| 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 benign
Transcript: ENSMUST00000120261
AA Change: Q1047L
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113667
Gene: ENSMUSG00000040712
AA Change: Q1047L
| 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 |
probably benign
Transcript: ENSMUST00000129434
|
| SMART Domains |
Protein: ENSMUSP00000115098
Gene: ENSMUSG00000018287
| Domain | Start | End | E-Value | Type |
|---|
|
R3H
|
22 |
99 |
3.06e-15 |
SMART |
|
low complexity region
|
120 |
142 |
N/A |
INTRINSIC |
|
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,736,212 (GRCm39) |
I202L |
probably benign |
Het |
| Acadsb |
A |
T |
7: 131,045,423 (GRCm39) |
T452S |
unknown |
Het |
| Ago2 |
A |
T |
15: 72,991,315 (GRCm39) |
L541Q |
probably damaging |
Het |
| Ap2a2 |
A |
T |
7: 141,200,812 (GRCm39) |
E553V |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,910,663 (GRCm39) |
K442E |
unknown |
Het |
| Bicd1 |
A |
G |
6: 149,414,633 (GRCm39) |
T449A |
probably benign |
Het |
| Btn1a1 |
T |
A |
13: 23,645,919 (GRCm39) |
Q150L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,499,610 (GRCm39) |
G599R |
probably damaging |
Het |
| Capza2 |
T |
A |
6: 17,657,214 (GRCm39) |
C157S |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,162,114 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,251,483 (GRCm39) |
D516V |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,999,832 (GRCm39) |
T197A |
probably benign |
Het |
| Comp |
A |
G |
8: 70,829,110 (GRCm39) |
N260S |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
| Defb22 |
C |
T |
2: 152,327,712 (GRCm39) |
V158I |
unknown |
Het |
| Diaph3 |
T |
C |
14: 87,103,949 (GRCm39) |
S812G |
probably damaging |
Het |
| Dohh |
G |
T |
10: 81,221,844 (GRCm39) |
Q79H |
probably benign |
Het |
| Dyrk1b |
T |
G |
7: 27,882,080 (GRCm39) |
V147G |
probably benign |
Het |
| Fastkd2 |
C |
T |
1: 63,787,183 (GRCm39) |
T539I |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,306,622 (GRCm39) |
D229N |
probably damaging |
Het |
| Kcnv1 |
A |
T |
15: 44,972,754 (GRCm39) |
D376E |
probably benign |
Het |
| Kif13a |
C |
A |
13: 46,906,057 (GRCm39) |
V1577F |
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 68,793,938 (GRCm39) |
R314H |
probably damaging |
Het |
| Mcoln2 |
A |
C |
3: 145,898,179 (GRCm39) |
N100T |
unknown |
Het |
| Mdh1b |
C |
T |
1: 63,759,164 (GRCm39) |
V143M |
possibly damaging |
Het |
| Mfsd4b4 |
G |
T |
10: 39,768,101 (GRCm39) |
Q377K |
probably benign |
Het |
| Mpv17l |
T |
C |
16: 13,762,584 (GRCm39) |
F122S |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,742,949 (GRCm39) |
S1154P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,760,261 (GRCm39) |
Y259C |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,558,646 (GRCm39) |
V931M |
probably benign |
Het |
| Nkd2 |
C |
A |
13: 73,969,437 (GRCm39) |
G343V |
probably damaging |
Het |
| Obox8 |
T |
A |
7: 14,065,928 (GRCm39) |
T197S |
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,784,744 (GRCm39) |
C127* |
probably null |
Het |
| Or13g1 |
G |
A |
7: 85,955,962 (GRCm39) |
R120C |
probably benign |
Het |
| Or4b1b |
A |
G |
2: 90,112,616 (GRCm39) |
F101S |
possibly damaging |
Het |
| Or5m11b |
T |
G |
2: 85,806,085 (GRCm39) |
M166R |
probably benign |
Het |
| Or5m11b |
T |
C |
2: 85,805,766 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p57 |
A |
G |
7: 107,664,980 (GRCm39) |
S342P |
probably damaging |
Het |
| Or5t7 |
T |
A |
2: 86,507,218 (GRCm39) |
H153L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,724,097 (GRCm39) |
S551T |
probably damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,154,953 (GRCm39) |
D557E |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,921 (GRCm39) |
D683E |
probably benign |
Het |
| Plekhb1 |
A |
G |
7: 100,305,936 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
A |
G |
4: 152,187,464 (GRCm39) |
N90D |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,100,579 (GRCm39) |
D482G |
probably benign |
Het |
| Rc3h1 |
A |
T |
1: 160,768,329 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
C |
T |
7: 5,113,539 (GRCm39) |
R214H |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,092,031 (GRCm39) |
I284T |
possibly damaging |
Het |
| Smurf1 |
C |
T |
5: 144,830,897 (GRCm39) |
E293K |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,023 (GRCm39) |
I276N |
probably damaging |
Het |
| Tbc1d2 |
C |
A |
4: 46,649,791 (GRCm39) |
A82S |
possibly damaging |
Het |
| Tex19.2 |
A |
G |
11: 121,008,010 (GRCm39) |
I146T |
possibly damaging |
Het |
| Tmem107 |
T |
G |
11: 68,962,281 (GRCm39) |
N79K |
probably damaging |
Het |
| Tpsab1 |
A |
T |
17: 25,564,305 (GRCm39) |
S50T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,553,594 (GRCm39) |
K31008* |
probably null |
Het |
| Ubox5 |
T |
C |
2: 130,441,629 (GRCm39) |
T353A |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,285,711 (GRCm39) |
H2445Q |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,537,698 (GRCm39) |
D499G |
probably benign |
Het |
| Xndc1 |
A |
T |
7: 101,728,343 (GRCm39) |
N247I |
possibly damaging |
Het |
| Yipf2 |
A |
T |
9: 21,501,291 (GRCm39) |
W226R |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,739,973 (GRCm39) |
Q793L |
probably damaging |
Het |
| Zfp385c |
A |
G |
11: 100,548,291 (GRCm39) |
S54P |
probably damaging |
Het |
| Zpld2 |
G |
T |
4: 133,930,278 (GRCm39) |
T9K |
unknown |
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 |
|
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 |
|
|
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'- TAAGTGCAATCCAGGTCAGC -3'
(R):5'- CTCACTCAGAGGCCTTAAATAGG -3'
Sequencing Primer
(F):5'- GCAATCCAGGTCAGCTTGTG -3'
(R):5'- ATTCTGATCCCTGGAATTCATGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation