Incidental Mutation 'R1993:Cacna1e'
| ID |
223809 |
| 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 |
040004-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R1993 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
154266477-154760247 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 154353563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 423
(Q423L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004214]
[ENSMUST00000187541]
[ENSMUST00000211821]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004214
AA Change: Q423L
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000004214
Gene: ENSMUSG00000004110
AA Change: Q423L
| 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: Q731L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140937
Gene: ENSMUSG00000004110
AA Change: Q731L
| 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 |
noncoding transcript
Transcript: ENSMUST00000188384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188965
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211821
AA Change: Q669L
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| 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: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
G |
5: 8,871,322 (GRCm39) |
I292S |
possibly damaging |
Het |
| Abcc4 |
T |
C |
14: 118,763,694 (GRCm39) |
N1047S |
probably benign |
Het |
| Abcc8 |
G |
T |
7: 45,766,847 (GRCm39) |
|
probably null |
Het |
| Akap9 |
T |
A |
5: 4,088,520 (GRCm39) |
|
probably null |
Het |
| Alox5 |
T |
A |
6: 116,392,424 (GRCm39) |
I366F |
probably damaging |
Het |
| Amn |
A |
G |
12: 111,242,526 (GRCm39) |
N447S |
probably damaging |
Het |
| Ankrd22 |
A |
T |
19: 34,143,174 (GRCm39) |
M1K |
probably null |
Het |
| Asic1 |
G |
T |
15: 99,569,765 (GRCm39) |
G29C |
probably damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,395,976 (GRCm39) |
N235S |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,063,519 (GRCm39) |
D388E |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,974,679 (GRCm39) |
S2212P |
probably damaging |
Het |
| Calu |
T |
C |
6: 29,366,974 (GRCm39) |
I62T |
possibly damaging |
Het |
| Cars2 |
A |
G |
8: 11,564,515 (GRCm39) |
V75A |
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,569,026 (GRCm39) |
N899K |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,228,089 (GRCm39) |
C86* |
probably null |
Het |
| Cdh5 |
G |
T |
8: 104,864,447 (GRCm39) |
L469F |
probably damaging |
Het |
| Clrn3 |
A |
T |
7: 135,115,848 (GRCm39) |
D167E |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,396,698 (GRCm39) |
C411S |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,411,755 (GRCm39) |
S1454T |
probably benign |
Het |
| Ddx20 |
G |
A |
3: 105,586,660 (GRCm39) |
Q562* |
probably null |
Het |
| Dgkg |
T |
G |
16: 22,419,344 (GRCm39) |
Y52S |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,594,316 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
A |
T |
5: 27,604,004 (GRCm39) |
I145L |
probably benign |
Het |
| Efna2 |
A |
T |
10: 80,022,711 (GRCm39) |
Y85F |
possibly damaging |
Het |
| Eif3a |
C |
T |
19: 60,769,954 (GRCm39) |
V127I |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,284,935 (GRCm39) |
H672L |
possibly damaging |
Het |
| Fam131b |
T |
C |
6: 42,297,818 (GRCm39) |
T112A |
possibly damaging |
Het |
| Fcgr1 |
A |
T |
3: 96,193,184 (GRCm39) |
V271E |
probably damaging |
Het |
| Fgfr4 |
A |
G |
13: 55,313,715 (GRCm39) |
D508G |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,473,549 (GRCm39) |
M1172T |
probably benign |
Het |
| Fryl |
G |
T |
5: 73,265,836 (GRCm39) |
T495K |
probably damaging |
Het |
| Garin5b |
A |
T |
7: 4,761,017 (GRCm39) |
V565E |
probably damaging |
Het |
| Gm5134 |
A |
T |
10: 75,802,227 (GRCm39) |
I93F |
probably damaging |
Het |
| Gpbar1 |
G |
A |
1: 74,318,603 (GRCm39) |
G282D |
possibly damaging |
Het |
| Gria2 |
G |
A |
3: 80,709,664 (GRCm39) |
L10F |
probably benign |
Het |
| Grm7 |
T |
C |
6: 111,184,769 (GRCm39) |
Y367H |
probably benign |
Het |
| H1f9 |
T |
A |
11: 94,858,858 (GRCm39) |
V51E |
probably damaging |
Het |
| Hivep1 |
G |
A |
13: 42,310,969 (GRCm39) |
A1070T |
probably benign |
Het |
| Il33 |
A |
G |
19: 29,934,304 (GRCm39) |
D155G |
possibly damaging |
Het |
| Kdm6b |
T |
C |
11: 69,297,129 (GRCm39) |
S408G |
probably null |
Het |
| Kntc1 |
A |
G |
5: 123,948,874 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
G |
A |
5: 123,897,162 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
T |
G |
12: 84,855,220 (GRCm39) |
|
probably null |
Het |
| Mapk8ip3 |
G |
T |
17: 25,133,562 (GRCm39) |
L83I |
probably damaging |
Het |
| Meltf |
C |
A |
16: 31,711,440 (GRCm39) |
Y554* |
probably null |
Het |
| Mov10 |
A |
C |
3: 104,706,735 (GRCm39) |
F725C |
probably damaging |
Het |
| Ms4a6d |
A |
C |
19: 11,567,523 (GRCm39) |
L18R |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,515 (GRCm39) |
N507S |
probably benign |
Het |
| Nodal |
A |
G |
10: 61,254,113 (GRCm39) |
Q12R |
probably benign |
Het |
| Npy6r |
T |
C |
18: 44,409,575 (GRCm39) |
L332P |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,227,181 (GRCm39) |
K272R |
possibly damaging |
Het |
| Obox2 |
G |
T |
7: 15,131,174 (GRCm39) |
K93N |
probably benign |
Het |
| Or10j27 |
C |
T |
1: 172,958,418 (GRCm39) |
R122H |
possibly damaging |
Het |
| Or51a6 |
G |
T |
7: 102,603,953 (GRCm39) |
P285Q |
probably damaging |
Het |
| Or5b112 |
A |
G |
19: 13,319,178 (GRCm39) |
T19A |
possibly damaging |
Het |
| Or5w13 |
C |
T |
2: 87,523,777 (GRCm39) |
V150M |
probably benign |
Het |
| Pcdh12 |
T |
A |
18: 38,415,196 (GRCm39) |
D643V |
possibly damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,529,539 (GRCm39) |
D112G |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,234,174 (GRCm39) |
S781P |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,752,178 (GRCm39) |
D188G |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,388,695 (GRCm39) |
N132K |
probably benign |
Het |
| Psip1 |
A |
G |
4: 83,400,769 (GRCm39) |
V25A |
probably damaging |
Het |
| Psmd13 |
T |
A |
7: 140,478,107 (GRCm39) |
I319N |
probably damaging |
Het |
| Ptges2 |
A |
G |
2: 32,290,104 (GRCm39) |
T173A |
probably benign |
Het |
| Ptprm |
G |
A |
17: 67,054,155 (GRCm39) |
R975W |
probably damaging |
Het |
| Rdh1 |
A |
G |
10: 127,601,214 (GRCm39) |
D254G |
probably benign |
Het |
| Rnf138 |
T |
G |
18: 21,157,540 (GRCm39) |
N212K |
probably damaging |
Het |
| Serpine2 |
A |
G |
1: 79,799,159 (GRCm39) |
S32P |
probably damaging |
Het |
| Serpini1 |
G |
T |
3: 75,521,971 (GRCm39) |
W154L |
probably damaging |
Het |
| Sf3a1 |
C |
A |
11: 4,129,177 (GRCm39) |
Q713K |
possibly damaging |
Het |
| Sgo2b |
A |
T |
8: 64,379,867 (GRCm39) |
H988Q |
probably benign |
Het |
| Sin3a |
T |
C |
9: 57,008,483 (GRCm39) |
F468L |
probably damaging |
Het |
| Slamf6 |
A |
T |
1: 171,761,776 (GRCm39) |
I66F |
possibly damaging |
Het |
| Slc22a28 |
A |
T |
19: 8,094,488 (GRCm39) |
C178S |
possibly damaging |
Het |
| Slc35a1 |
A |
C |
4: 34,675,181 (GRCm39) |
V119G |
probably damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,439,030 (GRCm39) |
H428L |
probably damaging |
Het |
| Speer2 |
A |
G |
16: 69,654,965 (GRCm39) |
S167P |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Spsb2 |
T |
C |
6: 124,786,329 (GRCm39) |
|
probably null |
Het |
| Stam2 |
A |
T |
2: 52,593,168 (GRCm39) |
Y341* |
probably null |
Het |
| Sv2b |
G |
A |
7: 74,856,089 (GRCm39) |
A67V |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,064,170 (GRCm39) |
|
probably null |
Het |
| Syt15 |
A |
T |
14: 33,944,969 (GRCm39) |
Q172L |
probably benign |
Het |
| T |
G |
A |
17: 8,660,634 (GRCm39) |
S415N |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,061,641 (GRCm39) |
F2625S |
possibly damaging |
Het |
| Tex14 |
T |
C |
11: 87,427,581 (GRCm39) |
V11A |
possibly damaging |
Het |
| Tiam2 |
A |
T |
17: 3,465,401 (GRCm39) |
R377* |
probably null |
Het |
| Tirap |
A |
G |
9: 35,102,312 (GRCm39) |
|
probably null |
Het |
| Tm4sf20 |
T |
C |
1: 82,737,938 (GRCm39) |
T118A |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,207,900 (GRCm39) |
Q1715L |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,783,823 (GRCm39) |
V217M |
probably damaging |
Het |
| Ubap1l |
G |
A |
9: 65,279,078 (GRCm39) |
E126K |
possibly damaging |
Het |
| Urgcp |
G |
T |
11: 5,666,526 (GRCm39) |
P604Q |
probably damaging |
Het |
| Vmn1r63 |
A |
G |
7: 5,806,254 (GRCm39) |
V126A |
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,933,525 (GRCm39) |
C362R |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,804,138 (GRCm39) |
I271V |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,699,822 (GRCm39) |
I740K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,883,138 (GRCm39) |
T3562A |
probably damaging |
Het |
| Wdr91 |
T |
A |
6: 34,869,297 (GRCm39) |
H409L |
probably damaging |
Het |
| Wnt7a |
T |
A |
6: 91,342,938 (GRCm39) |
T315S |
possibly damaging |
Het |
| Zfp616 |
A |
G |
11: 73,975,795 (GRCm39) |
H688R |
probably benign |
Het |
| Zfp763 |
A |
T |
17: 33,237,413 (GRCm39) |
H577Q |
probably damaging |
Het |
| Zfp808 |
G |
A |
13: 62,320,721 (GRCm39) |
S650N |
probably benign |
Het |
| Zfp977 |
A |
T |
7: 42,229,409 (GRCm39) |
M372K |
probably benign |
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 |
|
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 |
|
R7250:Cacna1e
|
UTSW |
1 |
154,576,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- GCACTATGCACTGTGACCAG -3'
(R):5'- AGAAATGAGACCTCTGCCTAGG -3'
Sequencing Primer
(F):5'- CTGTGACCAGTTCATAGAACAGAAG -3'
(R):5'- TGAGACCTCTGCCTAGGAACTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation