Incidental Mutation 'R7155:Cacna1i'
| ID |
557258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1i
|
| Ensembl Gene |
ENSMUSG00000022416 |
| Gene Name |
calcium channel, voltage-dependent, alpha 1I subunit |
| Synonyms |
|
| MMRRC Submission |
045226-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7155 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
80171439-80282480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80279439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 2060
(H2060R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160424]
[ENSMUST00000162155]
|
| AlphaFold |
E9Q7P2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160175
|
| SMART Domains |
Protein: ENSMUSP00000123881
Gene: ENSMUSG00000022416
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160424
AA Change: H2060R
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: H2060R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
76 |
407 |
1.4e-79 |
PFAM |
|
low complexity region
|
464 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
554 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
597 |
830 |
7.4e-58 |
PFAM |
|
low complexity region
|
870 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
984 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1080 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1128 |
1401 |
7.8e-65 |
PFAM |
|
Pfam:Ion_trans
|
1445 |
1700 |
9.4e-58 |
PFAM |
|
Pfam:PKD_channel
|
1538 |
1694 |
1.4e-10 |
PFAM |
|
low complexity region
|
1718 |
1739 |
N/A |
INTRINSIC |
|
low complexity region
|
1744 |
1760 |
N/A |
INTRINSIC |
|
low complexity region
|
1837 |
1853 |
N/A |
INTRINSIC |
|
low complexity region
|
1922 |
1933 |
N/A |
INTRINSIC |
|
low complexity region
|
1990 |
2005 |
N/A |
INTRINSIC |
|
low complexity region
|
2041 |
2058 |
N/A |
INTRINSIC |
|
low complexity region
|
2087 |
2097 |
N/A |
INTRINSIC |
|
low complexity region
|
2103 |
2126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161863
|
| SMART Domains |
Protein: ENSMUSP00000124367
Gene: ENSMUSG00000022416
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162025
|
| SMART Domains |
Protein: ENSMUSP00000125530
Gene: ENSMUSG00000022416
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
103 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162155
|
| SMART Domains |
Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
115 |
395 |
1.9e-66 |
PFAM |
|
low complexity region
|
464 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
554 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
632 |
819 |
2.4e-45 |
PFAM |
|
low complexity region
|
870 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
984 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1080 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1165 |
1389 |
6.2e-55 |
PFAM |
|
coiled coil region
|
1394 |
1426 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1480 |
1688 |
1.9e-47 |
PFAM |
|
Pfam:PKD_channel
|
1538 |
1694 |
4.8e-10 |
PFAM |
|
low complexity region
|
1718 |
1739 |
N/A |
INTRINSIC |
|
low complexity region
|
1744 |
1760 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
G |
2: 151,315,489 (GRCm39) |
L63P |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,479,010 (GRCm39) |
Y4286F |
probably benign |
Het |
| Aldh5a1 |
A |
C |
13: 25,095,572 (GRCm39) |
V515G |
possibly damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,241,141 (GRCm39) |
E406G |
possibly damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,707,733 (GRCm39) |
M1043K |
probably benign |
Het |
| Arhgef11 |
T |
A |
3: 87,616,879 (GRCm39) |
Y383* |
probably null |
Het |
| Aste1 |
C |
T |
9: 105,282,335 (GRCm39) |
P614L |
probably damaging |
Het |
| B3galt5 |
T |
A |
16: 96,117,005 (GRCm39) |
S213T |
probably damaging |
Het |
| Bak1 |
A |
G |
17: 27,241,434 (GRCm39) |
L108P |
possibly damaging |
Het |
| Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
| Bdp1 |
T |
G |
13: 100,197,659 (GRCm39) |
T909P |
possibly damaging |
Het |
| Cdhr3 |
G |
T |
12: 33,111,772 (GRCm39) |
P246Q |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,076,354 (GRCm39) |
S602P |
probably damaging |
Het |
| Csde1 |
T |
C |
3: 102,947,269 (GRCm39) |
S74P |
probably damaging |
Het |
| Cyp51 |
A |
T |
5: 4,137,846 (GRCm39) |
C366S |
possibly damaging |
Het |
| Dcaf7 |
A |
G |
11: 105,928,016 (GRCm39) |
N23D |
probably damaging |
Het |
| Ddx10 |
G |
A |
9: 53,028,588 (GRCm39) |
A772V |
probably benign |
Het |
| Ddx4 |
A |
G |
13: 112,750,319 (GRCm39) |
F404S |
probably benign |
Het |
| Dlg4 |
T |
A |
11: 69,908,042 (GRCm39) |
M1K |
probably null |
Het |
| Dnajc6 |
T |
C |
4: 101,470,142 (GRCm39) |
V293A |
probably damaging |
Het |
| Etl4 |
G |
T |
2: 20,811,742 (GRCm39) |
R1643L |
probably damaging |
Het |
| F13b |
G |
A |
1: 139,435,895 (GRCm39) |
E234K |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,226,766 (GRCm39) |
I633T |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,342,668 (GRCm39) |
I1654V |
probably benign |
Het |
| Galr2 |
A |
G |
11: 116,174,408 (GRCm39) |
E346G |
possibly damaging |
Het |
| Gck |
G |
A |
11: 5,899,705 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
G |
T |
12: 11,291,833 (GRCm39) |
T717K |
probably benign |
Het |
| Gpatch8 |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
11: 102,371,014 (GRCm39) |
|
probably benign |
Het |
| Hat1 |
A |
G |
2: 71,251,595 (GRCm39) |
T215A |
possibly damaging |
Het |
| Hmbox1 |
A |
T |
14: 65,134,486 (GRCm39) |
M38K |
probably damaging |
Het |
| Ifi47 |
A |
G |
11: 48,987,369 (GRCm39) |
K379E |
probably benign |
Het |
| Ift81 |
T |
C |
5: 122,707,062 (GRCm39) |
Y460C |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,055,938 (GRCm39) |
S381R |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,279,388 (GRCm39) |
V1458E |
probably damaging |
Het |
| Kpna4 |
G |
T |
3: 68,997,266 (GRCm39) |
P336Q |
probably damaging |
Het |
| Krt84 |
T |
C |
15: 101,440,689 (GRCm39) |
R168G |
probably damaging |
Het |
| Lhx8 |
T |
A |
3: 154,030,221 (GRCm39) |
Y137F |
possibly damaging |
Het |
| Lin7b |
T |
C |
7: 45,019,651 (GRCm39) |
E19G |
probably damaging |
Het |
| Lrmda |
A |
T |
14: 22,634,608 (GRCm39) |
R131S |
probably damaging |
Het |
| Lrrc75b |
C |
T |
10: 75,389,512 (GRCm39) |
A280T |
possibly damaging |
Het |
| Megf11 |
G |
A |
9: 64,555,233 (GRCm39) |
R268K |
probably null |
Het |
| Mgat4e |
G |
T |
1: 134,469,697 (GRCm39) |
Q116K |
probably damaging |
Het |
| Mlkl |
A |
G |
8: 112,046,035 (GRCm39) |
L325P |
probably damaging |
Het |
| Mup2 |
A |
G |
4: 60,137,641 (GRCm39) |
L134P |
probably damaging |
Het |
| Myo19 |
A |
G |
11: 84,791,412 (GRCm39) |
E489G |
probably damaging |
Het |
| Ncbp3 |
C |
A |
11: 72,938,835 (GRCm39) |
P37Q |
probably damaging |
Het |
| Nf2 |
A |
G |
11: 4,749,964 (GRCm39) |
V236A |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,014,905 (GRCm39) |
M115K |
possibly damaging |
Het |
| Nsf |
T |
A |
11: 103,719,356 (GRCm39) |
K649* |
probably null |
Het |
| Olfml2b |
A |
T |
1: 170,494,354 (GRCm39) |
I313L |
probably benign |
Het |
| Or2ak4 |
T |
A |
11: 58,649,109 (GRCm39) |
I206N |
probably damaging |
Het |
| Or52u1 |
T |
A |
7: 104,237,764 (GRCm39) |
V251D |
possibly damaging |
Het |
| Papln |
T |
A |
12: 83,823,295 (GRCm39) |
L444Q |
probably damaging |
Het |
| Phc3 |
T |
C |
3: 30,968,346 (GRCm39) |
I897V |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,596,300 (GRCm39) |
L632P |
probably damaging |
Het |
| Pramel21 |
A |
T |
4: 143,342,735 (GRCm39) |
I281F |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 31,279,701 (GRCm39) |
T178A |
probably damaging |
Het |
| Ptges |
T |
A |
2: 30,782,816 (GRCm39) |
T79S |
probably benign |
Het |
| Rab26 |
T |
C |
17: 24,751,263 (GRCm39) |
T81A |
probably damaging |
Het |
| Rai14 |
T |
A |
15: 10,595,089 (GRCm39) |
I145L |
possibly damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,884,414 (GRCm39) |
T960A |
possibly damaging |
Het |
| Rfx1 |
A |
T |
8: 84,821,455 (GRCm39) |
I755F |
probably damaging |
Het |
| Rims1 |
T |
G |
1: 22,503,174 (GRCm39) |
L670F |
probably damaging |
Het |
| Rtkn |
G |
A |
6: 83,126,692 (GRCm39) |
C297Y |
probably damaging |
Het |
| Sec23a |
A |
T |
12: 59,036,229 (GRCm39) |
N378K |
probably benign |
Het |
| Slc1a2 |
T |
C |
2: 102,597,340 (GRCm39) |
M449T |
probably damaging |
Het |
| Slc22a3 |
G |
A |
17: 12,652,518 (GRCm39) |
L369F |
possibly damaging |
Het |
| Slc34a1 |
A |
G |
13: 24,006,390 (GRCm39) |
E472G |
probably benign |
Het |
| Slc49a4 |
G |
T |
16: 35,555,947 (GRCm39) |
T171K |
probably benign |
Het |
| Smad6 |
G |
T |
9: 63,929,069 (GRCm39) |
D82E |
unknown |
Het |
| Smgc |
A |
T |
15: 91,736,811 (GRCm39) |
I463F |
possibly damaging |
Het |
| Strada |
C |
A |
11: 106,061,865 (GRCm39) |
G166C |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,570,825 (GRCm39) |
V309A |
probably benign |
Het |
| Tet2 |
C |
T |
3: 133,175,352 (GRCm39) |
E1332K |
possibly damaging |
Het |
| Tfcp2l1 |
A |
G |
1: 118,596,362 (GRCm39) |
N366D |
probably damaging |
Het |
| Tll2 |
G |
A |
19: 41,105,723 (GRCm39) |
P369L |
possibly damaging |
Het |
| Tox4 |
T |
C |
14: 52,529,554 (GRCm39) |
V505A |
probably benign |
Het |
| Trbv4 |
A |
G |
6: 41,036,787 (GRCm39) |
D104G |
probably damaging |
Het |
| Ugdh |
T |
C |
5: 65,574,380 (GRCm39) |
E416G |
probably damaging |
Het |
| Usp47 |
T |
A |
7: 111,686,220 (GRCm39) |
C613S |
probably damaging |
Het |
| Vmn1r11 |
T |
A |
6: 57,115,147 (GRCm39) |
N270K |
probably benign |
Het |
| Wsb2 |
T |
A |
5: 117,509,160 (GRCm39) |
L147Q |
probably damaging |
Het |
| Xrn1 |
G |
A |
9: 95,861,198 (GRCm39) |
A453T |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,460,106 (GRCm39) |
S1262P |
unknown |
Het |
| Zswim4 |
A |
G |
8: 84,946,556 (GRCm39) |
L700P |
probably damaging |
Het |
|
| Other mutations in Cacna1i |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Cacna1i
|
APN |
15 |
80,266,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00976:Cacna1i
|
APN |
15 |
80,239,846 (GRCm39) |
missense |
probably benign |
|
|
IGL01338:Cacna1i
|
APN |
15 |
80,232,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01589:Cacna1i
|
APN |
15 |
80,271,960 (GRCm39) |
splice site |
probably benign |
|
|
IGL01669:Cacna1i
|
APN |
15 |
80,275,958 (GRCm39) |
missense |
probably benign |
|
|
IGL01807:Cacna1i
|
APN |
15 |
80,258,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01911:Cacna1i
|
APN |
15 |
80,275,933 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01973:Cacna1i
|
APN |
15 |
80,266,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02205:Cacna1i
|
APN |
15 |
80,257,152 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02519:Cacna1i
|
APN |
15 |
80,246,075 (GRCm39) |
nonsense |
probably null |
|
|
IGL02648:Cacna1i
|
APN |
15 |
80,182,839 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03033:Cacna1i
|
APN |
15 |
80,246,440 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03214:Cacna1i
|
APN |
15 |
80,239,917 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0067:Cacna1i
|
UTSW |
15 |
80,265,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Cacna1i
|
UTSW |
15 |
80,265,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Cacna1i
|
UTSW |
15 |
80,240,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0345:Cacna1i
|
UTSW |
15 |
80,256,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0415:Cacna1i
|
UTSW |
15 |
80,253,031 (GRCm39) |
splice site |
probably benign |
|
|
R0637:Cacna1i
|
UTSW |
15 |
80,256,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0638:Cacna1i
|
UTSW |
15 |
80,265,281 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0840:Cacna1i
|
UTSW |
15 |
80,243,150 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1463:Cacna1i
|
UTSW |
15 |
80,263,255 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1528:Cacna1i
|
UTSW |
15 |
80,275,975 (GRCm39) |
splice site |
probably null |
|
|
R1563:Cacna1i
|
UTSW |
15 |
80,274,056 (GRCm39) |
splice site |
probably benign |
|
|
R1563:Cacna1i
|
UTSW |
15 |
80,205,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1573:Cacna1i
|
UTSW |
15 |
80,277,869 (GRCm39) |
splice site |
probably null |
|
|
R1654:Cacna1i
|
UTSW |
15 |
80,273,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Cacna1i
|
UTSW |
15 |
80,255,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1794:Cacna1i
|
UTSW |
15 |
80,273,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Cacna1i
|
UTSW |
15 |
80,260,990 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1863:Cacna1i
|
UTSW |
15 |
80,243,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Cacna1i
|
UTSW |
15 |
80,243,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1886:Cacna1i
|
UTSW |
15 |
80,243,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1899:Cacna1i
|
UTSW |
15 |
80,275,843 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1907:Cacna1i
|
UTSW |
15 |
80,259,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Cacna1i
|
UTSW |
15 |
80,279,245 (GRCm39) |
missense |
probably benign |
|
|
R2162:Cacna1i
|
UTSW |
15 |
80,240,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2888:Cacna1i
|
UTSW |
15 |
80,258,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3701:Cacna1i
|
UTSW |
15 |
80,265,272 (GRCm39) |
splice site |
probably benign |
|
|
R3702:Cacna1i
|
UTSW |
15 |
80,265,272 (GRCm39) |
splice site |
probably benign |
|
|
R3832:Cacna1i
|
UTSW |
15 |
80,240,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4852:Cacna1i
|
UTSW |
15 |
80,272,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4857:Cacna1i
|
UTSW |
15 |
80,253,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4950:Cacna1i
|
UTSW |
15 |
80,252,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Cacna1i
|
UTSW |
15 |
80,232,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5217:Cacna1i
|
UTSW |
15 |
80,275,041 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5437:Cacna1i
|
UTSW |
15 |
80,255,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5519:Cacna1i
|
UTSW |
15 |
80,255,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Cacna1i
|
UTSW |
15 |
80,279,279 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6217:Cacna1i
|
UTSW |
15 |
80,273,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:Cacna1i
|
UTSW |
15 |
80,205,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Cacna1i
|
UTSW |
15 |
80,220,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6463:Cacna1i
|
UTSW |
15 |
80,239,959 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6490:Cacna1i
|
UTSW |
15 |
80,262,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6613:Cacna1i
|
UTSW |
15 |
80,205,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Cacna1i
|
UTSW |
15 |
80,259,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6904:Cacna1i
|
UTSW |
15 |
80,259,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7017:Cacna1i
|
UTSW |
15 |
80,264,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Cacna1i
|
UTSW |
15 |
80,261,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7323:Cacna1i
|
UTSW |
15 |
80,275,854 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7335:Cacna1i
|
UTSW |
15 |
80,259,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Cacna1i
|
UTSW |
15 |
80,259,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Cacna1i
|
UTSW |
15 |
80,265,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7820:Cacna1i
|
UTSW |
15 |
80,256,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7987:Cacna1i
|
UTSW |
15 |
80,204,553 (GRCm39) |
splice site |
probably null |
|
|
R8150:Cacna1i
|
UTSW |
15 |
80,259,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8206:Cacna1i
|
UTSW |
15 |
80,274,016 (GRCm39) |
splice site |
probably null |
|
|
R8270:Cacna1i
|
UTSW |
15 |
80,257,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8382:Cacna1i
|
UTSW |
15 |
80,261,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8501:Cacna1i
|
UTSW |
15 |
80,266,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8518:Cacna1i
|
UTSW |
15 |
80,243,095 (GRCm39) |
nonsense |
probably null |
|
|
R8552:Cacna1i
|
UTSW |
15 |
80,204,598 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8679:Cacna1i
|
UTSW |
15 |
80,260,011 (GRCm39) |
intron |
probably benign |
|
|
R8696:Cacna1i
|
UTSW |
15 |
80,266,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8887:Cacna1i
|
UTSW |
15 |
80,258,894 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9274:Cacna1i
|
UTSW |
15 |
80,254,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Cacna1i
|
UTSW |
15 |
80,259,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9508:Cacna1i
|
UTSW |
15 |
80,279,372 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9518:Cacna1i
|
UTSW |
15 |
80,271,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Cacna1i
|
UTSW |
15 |
80,264,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Cacna1i
|
UTSW |
15 |
80,246,318 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9769:Cacna1i
|
UTSW |
15 |
80,253,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Cacna1i
|
UTSW |
15 |
80,246,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0024:Cacna1i
|
UTSW |
15 |
80,246,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0058:Cacna1i
|
UTSW |
15 |
80,263,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cacna1i
|
UTSW |
15 |
80,273,584 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Cacna1i
|
UTSW |
15 |
80,265,380 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACGTCTTTGGATGCCAG -3'
(R):5'- GTACTGCTGAACTTCCTGGCTG -3'
Sequencing Primer
(F):5'- GTCTTTGGATGCCAGCCCTAG -3'
(R):5'- AACTTCCTGGCTGGGGTGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation