Incidental Mutation 'R7250:Cacna1e'
| ID |
563797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1e
|
| Ensembl Gene |
ENSMUSG00000004110 |
| Gene Name |
calcium channel, voltage-dependent, R type, alpha 1E subunit |
| Synonyms |
Cav2.3, Cchra1, alpha1E |
| MMRRC Submission |
045350-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R7250 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
154266477-154760247 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 154576235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 133
(I133F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004214]
[ENSMUST00000187541]
[ENSMUST00000211821]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004214
|
| SMART Domains |
Protein: ENSMUSP00000004214
Gene: ENSMUSG00000004110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
1 |
55 |
6.7e-10 |
PFAM |
|
Pfam:Ion_trans
|
168 |
407 |
3.3e-56 |
PFAM |
|
Pfam:PKD_channel
|
257 |
401 |
3.3e-7 |
PFAM |
|
low complexity region
|
409 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
640 |
N/A |
INTRINSIC |
|
coiled coil region
|
793 |
823 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
847 |
1128 |
2.3e-63 |
PFAM |
|
Pfam:Ion_trans
|
1172 |
1429 |
2.6e-65 |
PFAM |
|
Pfam:PKD_channel
|
1256 |
1424 |
2.8e-10 |
PFAM |
|
Pfam:GPHH
|
1431 |
1500 |
1.3e-37 |
PFAM |
|
Ca_chan_IQ
|
1555 |
1589 |
5.93e-13 |
SMART |
|
low complexity region
|
1701 |
1717 |
N/A |
INTRINSIC |
|
low complexity region
|
1729 |
1742 |
N/A |
INTRINSIC |
|
low complexity region
|
1764 |
1780 |
N/A |
INTRINSIC |
|
low complexity region
|
1789 |
1804 |
N/A |
INTRINSIC |
|
low complexity region
|
1808 |
1822 |
N/A |
INTRINSIC |
|
low complexity region
|
1832 |
1846 |
N/A |
INTRINSIC |
|
low complexity region
|
1867 |
1878 |
N/A |
INTRINSIC |
|
low complexity region
|
1936 |
1946 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187541
AA Change: I133F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140937
Gene: ENSMUSG00000004110
AA Change: I133F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
128 |
351 |
8.5e-54 |
PFAM |
|
PDB:4DEX|B
|
354 |
462 |
6e-36 |
PDB |
|
Pfam:Ion_trans
|
511 |
703 |
2.2e-46 |
PFAM |
|
Pfam:PKD_channel
|
565 |
710 |
1.4e-6 |
PFAM |
|
low complexity region
|
717 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
822 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
934 |
948 |
N/A |
INTRINSIC |
|
coiled coil region
|
1101 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1162 |
1175 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1191 |
1425 |
4.3e-55 |
PFAM |
|
Pfam:Ion_trans
|
1515 |
1725 |
5.3e-60 |
PFAM |
|
Pfam:PKD_channel
|
1565 |
1732 |
4.7e-10 |
PFAM |
|
Ca_chan_IQ
|
1863 |
1897 |
5.93e-13 |
SMART |
|
low complexity region
|
2009 |
2025 |
N/A |
INTRINSIC |
|
low complexity region
|
2037 |
2050 |
N/A |
INTRINSIC |
|
low complexity region
|
2072 |
2088 |
N/A |
INTRINSIC |
|
low complexity region
|
2097 |
2112 |
N/A |
INTRINSIC |
|
low complexity region
|
2116 |
2130 |
N/A |
INTRINSIC |
|
low complexity region
|
2140 |
2154 |
N/A |
INTRINSIC |
|
low complexity region
|
2175 |
2186 |
N/A |
INTRINSIC |
|
low complexity region
|
2244 |
2254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211821
AA Change: I71F
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes. Voltage-dependent calcium channels are multi-subunit complexes, comprised of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The isoform alpha-1E gives rise to R-type calcium currents and belongs to the high-voltage activated group. Calcium channels containing the alpha-1E subunit may be involved in the modulation of neuronal firing patterns, an important component of information processing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, knock-out(3) Targeted, other(3) Gene trapped(1) |
| Other mutations in this stock |
Total: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
G |
T |
X: 77,414,311 (GRCm39) |
M345I |
probably benign |
Het |
| Actl7b |
T |
A |
4: 56,741,035 (GRCm39) |
M108L |
probably benign |
Het |
| Adgrf3 |
T |
A |
5: 30,400,680 (GRCm39) |
I934L |
probably damaging |
Het |
| Adprm |
A |
G |
11: 66,932,450 (GRCm39) |
V153A |
probably benign |
Het |
| Aif1l |
G |
A |
2: 31,859,764 (GRCm39) |
V109M |
probably damaging |
Het |
| Asphd1 |
T |
A |
7: 126,545,942 (GRCm39) |
E307V |
probably damaging |
Het |
| Ate1 |
T |
A |
7: 130,121,701 (GRCm39) |
|
probably benign |
Het |
| Borcs7 |
A |
G |
19: 46,688,047 (GRCm39) |
H64R |
probably damaging |
Het |
| C1qtnf1 |
A |
G |
11: 118,339,176 (GRCm39) |
*282W |
probably null |
Het |
| Cacna1c |
A |
G |
6: 118,574,966 (GRCm39) |
C1985R |
|
Het |
| Cacna1c |
A |
T |
6: 118,673,412 (GRCm39) |
V647E |
|
Het |
| Cacna1d |
A |
G |
14: 29,797,108 (GRCm39) |
S1497P |
probably damaging |
Het |
| Ccdc63 |
A |
T |
5: 122,260,906 (GRCm39) |
L206H |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,323,748 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
T |
G |
13: 113,455,349 (GRCm39) |
I465R |
|
Het |
| D430041D05Rik |
T |
C |
2: 104,086,961 (GRCm39) |
T672A |
possibly damaging |
Het |
| D630045J12Rik |
G |
T |
6: 38,119,546 (GRCm39) |
T1732K |
possibly damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,507,736 (GRCm39) |
I158T |
probably damaging |
Het |
| Ddx52 |
G |
A |
11: 83,835,392 (GRCm39) |
G106D |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,586,032 (GRCm39) |
V550A |
probably benign |
Het |
| Dock2 |
C |
T |
11: 34,586,120 (GRCm39) |
D521N |
probably damaging |
Het |
| F13b |
T |
C |
1: 139,444,227 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
A |
G |
7: 100,908,892 (GRCm39) |
K431R |
possibly damaging |
Het |
| Fez1 |
C |
T |
9: 36,779,090 (GRCm39) |
R256C |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,391 (GRCm39) |
Q229L |
probably benign |
Het |
| Gpr45 |
T |
A |
1: 43,071,531 (GRCm39) |
I58N |
probably damaging |
Het |
| Gstm1 |
T |
A |
3: 107,923,709 (GRCm39) |
I99F |
probably damaging |
Het |
| Gtpbp8 |
T |
A |
16: 44,564,225 (GRCm39) |
T149S |
probably damaging |
Het |
| H2-Ab1 |
A |
G |
17: 34,486,481 (GRCm39) |
D180G |
probably damaging |
Het |
| Hdhd5 |
A |
G |
6: 120,494,016 (GRCm39) |
I188T |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,052,197 (GRCm39) |
I300V |
probably benign |
Het |
| Hnrnpr |
T |
G |
4: 136,059,746 (GRCm39) |
D283E |
probably benign |
Het |
| Hsp90b1 |
T |
C |
10: 86,527,572 (GRCm39) |
E768G |
unknown |
Het |
| Kcna4 |
C |
A |
2: 107,126,663 (GRCm39) |
Q466K |
possibly damaging |
Het |
| Kcnk6 |
A |
G |
7: 28,931,619 (GRCm39) |
L97P |
probably benign |
Het |
| Kics2 |
T |
C |
10: 121,581,376 (GRCm39) |
S126P |
possibly damaging |
Het |
| Klf5 |
A |
G |
14: 99,536,455 (GRCm39) |
S9G |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,504,489 (GRCm39) |
K3606N |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,514,805 (GRCm39) |
T3013A |
probably benign |
Het |
| Lancl1 |
A |
G |
1: 67,048,458 (GRCm39) |
Y207H |
possibly damaging |
Het |
| Lipe |
G |
C |
7: 25,088,085 (GRCm39) |
|
probably benign |
Het |
| Lrrc66 |
T |
A |
5: 73,768,224 (GRCm39) |
H239L |
probably benign |
Het |
| Ltbp2 |
C |
T |
12: 84,834,166 (GRCm39) |
W1441* |
probably null |
Het |
| Man2a1 |
T |
C |
17: 64,943,583 (GRCm39) |
S213P |
probably benign |
Het |
| Mapre2 |
C |
T |
18: 23,991,119 (GRCm39) |
A171V |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,695,427 (GRCm39) |
D1155E |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,301,053 (GRCm39) |
D1327G |
possibly damaging |
Het |
| Mx2 |
T |
C |
16: 97,348,664 (GRCm39) |
I279T |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,169,497 (GRCm39) |
T441A |
probably damaging |
Het |
| Nlrp9a |
T |
G |
7: 26,258,143 (GRCm39) |
V587G |
possibly damaging |
Het |
| Npas2 |
A |
T |
1: 39,377,188 (GRCm39) |
T517S |
probably damaging |
Het |
| Npy1r |
T |
C |
8: 67,157,712 (GRCm39) |
S341P |
probably benign |
Het |
| Ntm |
A |
G |
9: 29,322,988 (GRCm39) |
W11R |
probably benign |
Het |
| Nxpe2 |
A |
T |
9: 48,238,096 (GRCm39) |
I53N |
possibly damaging |
Het |
| Onecut2 |
T |
C |
18: 64,519,511 (GRCm39) |
F443L |
probably benign |
Het |
| Or10g6 |
T |
A |
9: 39,934,050 (GRCm39) |
Y120* |
probably null |
Het |
| Or2r2 |
A |
G |
6: 42,463,689 (GRCm39) |
V146A |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,245,738 (GRCm39) |
Y217N |
probably damaging |
Het |
| Parp2 |
T |
A |
14: 51,054,801 (GRCm39) |
V248E |
probably benign |
Het |
| Pcdh12 |
C |
A |
18: 38,415,029 (GRCm39) |
V699L |
probably benign |
Het |
| Pja2 |
G |
A |
17: 64,616,451 (GRCm39) |
P148L |
probably benign |
Het |
| Poglut3 |
C |
T |
9: 53,301,821 (GRCm39) |
Q158* |
probably null |
Het |
| Ppip5k2 |
T |
G |
1: 97,673,187 (GRCm39) |
D415A |
probably benign |
Het |
| Prss47 |
A |
G |
13: 65,200,355 (GRCm39) |
S74P |
probably benign |
Het |
| Ptprg |
G |
T |
14: 12,166,767 (GRCm38) |
M723I |
probably benign |
Het |
| Qsox2 |
A |
T |
2: 26,118,444 (GRCm39) |
I109N |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 9,041,853 (GRCm39) |
E217G |
probably benign |
Het |
| Rgl2 |
C |
T |
17: 34,152,403 (GRCm39) |
R367W |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,841 (GRCm39) |
F208Y |
probably damaging |
Het |
| Rin3 |
C |
T |
12: 102,334,893 (GRCm39) |
T268I |
unknown |
Het |
| Rttn |
T |
A |
18: 89,007,647 (GRCm39) |
D427E |
probably benign |
Het |
| Samd13 |
G |
A |
3: 146,352,079 (GRCm39) |
P91S |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,374,201 (GRCm39) |
D1020G |
possibly damaging |
Het |
| Sec62 |
T |
G |
3: 30,866,496 (GRCm39) |
L201V |
possibly damaging |
Het |
| Setdb1 |
C |
T |
3: 95,261,852 (GRCm39) |
|
probably null |
Het |
| Sf3a3 |
A |
T |
4: 124,616,708 (GRCm39) |
T197S |
probably benign |
Het |
| Slc20a1 |
A |
T |
2: 129,051,844 (GRCm39) |
I618F |
possibly damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,533,865 (GRCm39) |
M186K |
probably benign |
Het |
| Slc39a13 |
T |
C |
2: 90,893,503 (GRCm39) |
T319A |
probably benign |
Het |
| Slc44a4 |
T |
C |
17: 35,137,520 (GRCm39) |
|
probably null |
Het |
| St3gal1 |
A |
C |
15: 66,978,578 (GRCm39) |
D314E |
possibly damaging |
Het |
| Suclg1 |
A |
G |
6: 73,248,074 (GRCm39) |
N265S |
probably benign |
Het |
| Sult2b1 |
A |
T |
7: 45,433,361 (GRCm39) |
V2D |
unknown |
Het |
| Supv3l1 |
T |
A |
10: 62,280,846 (GRCm39) |
I182F |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,423,105 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
C |
A |
11: 35,963,625 (GRCm39) |
L935F |
probably damaging |
Het |
| Tnks |
T |
A |
8: 35,318,912 (GRCm39) |
I790F |
probably damaging |
Het |
| Top2b |
C |
T |
14: 16,420,411 (GRCm38) |
T1274I |
probably benign |
Het |
| Tpi1 |
A |
T |
6: 124,789,441 (GRCm39) |
I178N |
probably damaging |
Het |
| Trav9d-1 |
A |
T |
14: 53,030,153 (GRCm39) |
S86C |
probably damaging |
Het |
| Treml2 |
A |
G |
17: 48,616,155 (GRCm39) |
E265G |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,668,685 (GRCm39) |
S744T |
possibly damaging |
Het |
| Usp33 |
T |
A |
3: 152,097,999 (GRCm39) |
L909* |
probably null |
Het |
| Vcan |
A |
G |
13: 89,869,805 (GRCm39) |
I210T |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,879,576 (GRCm39) |
|
probably null |
Het |
| Vsig10l |
A |
T |
7: 43,113,099 (GRCm39) |
D17V |
probably benign |
Het |
| Zbtb7b |
T |
A |
3: 89,286,976 (GRCm39) |
T498S |
probably benign |
Het |
| Zfp366 |
T |
A |
13: 99,366,076 (GRCm39) |
H412Q |
probably damaging |
Het |
| Zfp53 |
C |
A |
17: 21,729,840 (GRCm39) |
D624E |
probably damaging |
Het |
| Zfp827 |
A |
T |
8: 79,916,721 (GRCm39) |
D432V |
|
Het |
| Zic1 |
T |
C |
9: 91,247,028 (GRCm39) |
T15A |
probably damaging |
Het |
| Zswim8 |
T |
C |
14: 20,770,036 (GRCm39) |
C1368R |
probably damaging |
Het |
|
| Other mutations in Cacna1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00551:Cacna1e
|
APN |
1 |
154,279,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01086:Cacna1e
|
APN |
1 |
154,347,347 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01302:Cacna1e
|
APN |
1 |
154,319,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Cacna1e
|
APN |
1 |
154,348,123 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01573:Cacna1e
|
APN |
1 |
154,347,113 (GRCm39) |
missense |
probably benign |
|
|
IGL01676:Cacna1e
|
APN |
1 |
154,288,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01676:Cacna1e
|
APN |
1 |
154,274,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01762:Cacna1e
|
APN |
1 |
154,347,119 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01801:Cacna1e
|
APN |
1 |
154,347,086 (GRCm39) |
missense |
probably null |
0.00 |
|
IGL01895:Cacna1e
|
APN |
1 |
154,319,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Cacna1e
|
APN |
1 |
154,296,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Cacna1e
|
APN |
1 |
154,279,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02659:Cacna1e
|
APN |
1 |
154,302,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02686:Cacna1e
|
APN |
1 |
154,369,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02838:Cacna1e
|
APN |
1 |
154,321,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02958:Cacna1e
|
APN |
1 |
154,341,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Cacna1e
|
APN |
1 |
154,347,171 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03120:Cacna1e
|
APN |
1 |
154,319,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03232:Cacna1e
|
APN |
1 |
154,369,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03310:Cacna1e
|
APN |
1 |
154,317,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Cacna1e
|
APN |
1 |
154,342,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
bezoar
|
UTSW |
1 |
154,312,300 (GRCm39) |
splice site |
probably null |
|
|
hairball
|
UTSW |
1 |
154,355,051 (GRCm39) |
missense |
probably damaging |
0.97 |
|
N/A - 535:Cacna1e
|
UTSW |
1 |
154,341,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Cacna1e
|
UTSW |
1 |
154,319,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0143:Cacna1e
|
UTSW |
1 |
154,324,693 (GRCm39) |
splice site |
probably null |
|
|
R0314:Cacna1e
|
UTSW |
1 |
154,317,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0366:Cacna1e
|
UTSW |
1 |
154,291,884 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0626:Cacna1e
|
UTSW |
1 |
154,364,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0739:Cacna1e
|
UTSW |
1 |
154,318,024 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1272:Cacna1e
|
UTSW |
1 |
154,320,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Cacna1e
|
UTSW |
1 |
154,274,419 (GRCm39) |
missense |
probably benign |
|
|
R1340:Cacna1e
|
UTSW |
1 |
154,348,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:Cacna1e
|
UTSW |
1 |
154,437,552 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1449:Cacna1e
|
UTSW |
1 |
154,361,408 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1538:Cacna1e
|
UTSW |
1 |
154,437,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1542:Cacna1e
|
UTSW |
1 |
154,353,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1560:Cacna1e
|
UTSW |
1 |
154,296,850 (GRCm39) |
nonsense |
probably null |
|
|
R1748:Cacna1e
|
UTSW |
1 |
154,362,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1749:Cacna1e
|
UTSW |
1 |
154,319,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Cacna1e
|
UTSW |
1 |
154,312,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Cacna1e
|
UTSW |
1 |
154,576,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Cacna1e
|
UTSW |
1 |
154,353,563 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1994:Cacna1e
|
UTSW |
1 |
154,353,563 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2191:Cacna1e
|
UTSW |
1 |
154,319,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Cacna1e
|
UTSW |
1 |
154,279,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2417:Cacna1e
|
UTSW |
1 |
154,347,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Cacna1e
|
UTSW |
1 |
154,291,831 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3757:Cacna1e
|
UTSW |
1 |
154,509,442 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3890:Cacna1e
|
UTSW |
1 |
154,359,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Cacna1e
|
UTSW |
1 |
154,358,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Cacna1e
|
UTSW |
1 |
154,287,929 (GRCm39) |
splice site |
probably null |
|
|
R4275:Cacna1e
|
UTSW |
1 |
154,369,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Cacna1e
|
UTSW |
1 |
154,302,296 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4297:Cacna1e
|
UTSW |
1 |
154,274,477 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4356:Cacna1e
|
UTSW |
1 |
154,319,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Cacna1e
|
UTSW |
1 |
154,437,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Cacna1e
|
UTSW |
1 |
154,437,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Cacna1e
|
UTSW |
1 |
154,277,773 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4590:Cacna1e
|
UTSW |
1 |
154,312,265 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4601:Cacna1e
|
UTSW |
1 |
154,347,359 (GRCm39) |
missense |
probably benign |
|
|
R4622:Cacna1e
|
UTSW |
1 |
154,347,311 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4626:Cacna1e
|
UTSW |
1 |
154,358,294 (GRCm39) |
splice site |
probably null |
|
|
R4694:Cacna1e
|
UTSW |
1 |
154,313,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4727:Cacna1e
|
UTSW |
1 |
154,312,214 (GRCm39) |
nonsense |
probably null |
|
|
R4839:Cacna1e
|
UTSW |
1 |
154,296,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Cacna1e
|
UTSW |
1 |
154,312,300 (GRCm39) |
splice site |
probably null |
|
|
R4894:Cacna1e
|
UTSW |
1 |
154,364,551 (GRCm39) |
nonsense |
probably null |
|
|
R4934:Cacna1e
|
UTSW |
1 |
154,357,380 (GRCm39) |
nonsense |
probably null |
|
|
R4979:Cacna1e
|
UTSW |
1 |
154,289,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Cacna1e
|
UTSW |
1 |
154,437,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5128:Cacna1e
|
UTSW |
1 |
154,277,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5214:Cacna1e
|
UTSW |
1 |
154,577,110 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5274:Cacna1e
|
UTSW |
1 |
154,576,250 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5388:Cacna1e
|
UTSW |
1 |
154,353,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Cacna1e
|
UTSW |
1 |
154,341,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5469:Cacna1e
|
UTSW |
1 |
154,319,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Cacna1e
|
UTSW |
1 |
154,601,455 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5607:Cacna1e
|
UTSW |
1 |
154,347,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5615:Cacna1e
|
UTSW |
1 |
154,287,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Cacna1e
|
UTSW |
1 |
154,317,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Cacna1e
|
UTSW |
1 |
154,511,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5707:Cacna1e
|
UTSW |
1 |
154,509,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Cacna1e
|
UTSW |
1 |
154,347,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5893:Cacna1e
|
UTSW |
1 |
154,313,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Cacna1e
|
UTSW |
1 |
154,437,537 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6134:Cacna1e
|
UTSW |
1 |
154,577,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Cacna1e
|
UTSW |
1 |
154,362,316 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6279:Cacna1e
|
UTSW |
1 |
154,301,678 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6295:Cacna1e
|
UTSW |
1 |
154,317,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6300:Cacna1e
|
UTSW |
1 |
154,301,678 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6320:Cacna1e
|
UTSW |
1 |
154,317,270 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6375:Cacna1e
|
UTSW |
1 |
154,355,051 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6830:Cacna1e
|
UTSW |
1 |
154,289,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6842:Cacna1e
|
UTSW |
1 |
154,358,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Cacna1e
|
UTSW |
1 |
154,601,439 (GRCm39) |
missense |
probably null |
0.85 |
|
R7081:Cacna1e
|
UTSW |
1 |
154,576,129 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7085:Cacna1e
|
UTSW |
1 |
154,349,492 (GRCm39) |
splice site |
probably null |
|
|
R7108:Cacna1e
|
UTSW |
1 |
154,344,741 (GRCm39) |
frame shift |
probably null |
|
|
R7142:Cacna1e
|
UTSW |
1 |
154,288,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Cacna1e
|
UTSW |
1 |
154,601,547 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7410:Cacna1e
|
UTSW |
1 |
154,347,980 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7502:Cacna1e
|
UTSW |
1 |
154,344,734 (GRCm39) |
missense |
probably null |
0.35 |
|
R7556:Cacna1e
|
UTSW |
1 |
154,348,419 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7563:Cacna1e
|
UTSW |
1 |
154,347,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7573:Cacna1e
|
UTSW |
1 |
154,601,911 (GRCm39) |
intron |
probably benign |
|
|
R7689:Cacna1e
|
UTSW |
1 |
154,274,549 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7699:Cacna1e
|
UTSW |
1 |
154,319,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Cacna1e
|
UTSW |
1 |
154,341,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Cacna1e
|
UTSW |
1 |
154,288,863 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7787:Cacna1e
|
UTSW |
1 |
154,358,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7818:Cacna1e
|
UTSW |
1 |
154,274,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7838:Cacna1e
|
UTSW |
1 |
154,347,149 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7849:Cacna1e
|
UTSW |
1 |
154,509,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8011:Cacna1e
|
UTSW |
1 |
154,341,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8094:Cacna1e
|
UTSW |
1 |
154,437,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8162:Cacna1e
|
UTSW |
1 |
154,577,313 (GRCm39) |
splice site |
probably null |
|
|
R8202:Cacna1e
|
UTSW |
1 |
154,274,195 (GRCm39) |
missense |
probably benign |
|
|
R8280:Cacna1e
|
UTSW |
1 |
154,344,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8354:Cacna1e
|
UTSW |
1 |
154,274,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8385:Cacna1e
|
UTSW |
1 |
154,319,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8532:Cacna1e
|
UTSW |
1 |
154,341,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Cacna1e
|
UTSW |
1 |
154,349,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8926:Cacna1e
|
UTSW |
1 |
154,577,080 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8947:Cacna1e
|
UTSW |
1 |
154,277,896 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9094:Cacna1e
|
UTSW |
1 |
154,355,064 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9126:Cacna1e
|
UTSW |
1 |
154,343,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9175:Cacna1e
|
UTSW |
1 |
154,274,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9286:Cacna1e
|
UTSW |
1 |
154,288,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Cacna1e
|
UTSW |
1 |
154,361,458 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9452:Cacna1e
|
UTSW |
1 |
154,289,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9463:Cacna1e
|
UTSW |
1 |
154,357,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Cacna1e
|
UTSW |
1 |
154,318,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Cacna1e
|
UTSW |
1 |
154,320,693 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9562:Cacna1e
|
UTSW |
1 |
154,283,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF008:Cacna1e
|
UTSW |
1 |
154,317,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Cacna1e
|
UTSW |
1 |
154,288,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cacna1e
|
UTSW |
1 |
154,511,596 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Cacna1e
|
UTSW |
1 |
154,318,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACCAGCTACCTCATGTCACC -3'
(R):5'- AGGTCCTCTTGGTGCTTCAG -3'
Sequencing Primer
(F):5'- ATGTCACCATGAGCCTCCC -3'
(R):5'- GGTGCTTCAGTAACCTAAGCTGTAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation