Incidental Mutation 'IGL03006:Cacna1f'
| ID |
407542 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cacna1f
|
| Ensembl Gene |
ENSMUSG00000031142 |
| Gene Name |
calcium channel, voltage-dependent, alpha 1F subunit |
| Synonyms |
Sfc17, Cav1.4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03006
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
7473342-7501435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 7493142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 1275
(T1275K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115725]
[ENSMUST00000115726]
[ENSMUST00000128628]
[ENSMUST00000155090]
[ENSMUST00000156047]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115725
AA Change: T1275K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111390
Gene: ENSMUSG00000031142
AA Change: T1275K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
129 |
371 |
9.3e-59 |
PFAM |
|
PDB:4DEY|B
|
372 |
415 |
2e-21 |
PDB |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
transmembrane domain
|
525 |
547 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
563 |
757 |
3.8e-44 |
PFAM |
|
coiled coil region
|
806 |
834 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
909 |
1139 |
1.1e-50 |
PFAM |
|
Pfam:Ion_trans
|
1227 |
1436 |
2.7e-64 |
PFAM |
|
Pfam:PKD_channel
|
1272 |
1443 |
1e-10 |
PFAM |
|
Blast:EFh
|
1457 |
1485 |
2e-8 |
BLAST |
|
Ca_chan_IQ
|
1571 |
1605 |
3.71e-14 |
SMART |
|
low complexity region
|
1636 |
1655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115726
AA Change: T1275K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111391
Gene: ENSMUSG00000031142
AA Change: T1275K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
91 |
383 |
2.1e-70 |
PFAM |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
525 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
528 |
768 |
3.8e-54 |
PFAM |
|
coiled coil region
|
806 |
834 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
873 |
1151 |
2.4e-59 |
PFAM |
|
Pfam:Ion_trans
|
1192 |
1455 |
2.6e-67 |
PFAM |
|
Pfam:PKD_channel
|
1285 |
1450 |
8.5e-10 |
PFAM |
|
Pfam:GPHH
|
1457 |
1526 |
2.7e-37 |
PFAM |
|
Ca_chan_IQ
|
1578 |
1612 |
3.71e-14 |
SMART |
|
Pfam:CAC1F_C
|
1622 |
1983 |
1.5e-164 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128628
|
| SMART Domains |
Protein: ENSMUSP00000119207
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
4 |
166 |
8.7e-48 |
PFAM |
|
Pfam:PKD_channel
|
9 |
173 |
2.6e-11 |
PFAM |
|
Blast:EFh
|
187 |
215 |
1e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155090
|
| SMART Domains |
Protein: ENSMUSP00000138116
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
96 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
129 |
371 |
1.1e-59 |
PFAM |
|
PDB:4DEY|B
|
372 |
415 |
4e-22 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157000
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156047
|
| SMART Domains |
Protein: ENSMUSP00000115012
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
1 |
159 |
6.5e-47 |
PFAM |
|
Pfam:PKD_channel
|
2 |
166 |
3.3e-11 |
PFAM |
|
Blast:EFh
|
180 |
208 |
2e-9 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous or hemizygous mutation of this gene results in impaired eye electrophysiology, abnormal retinal neuronal layer, bipolar cell, and horizontal cell morphology, and impaired retinal synapse morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
A |
11: 109,718,671 (GRCm39) |
S21C |
probably damaging |
Het |
| 2210408I21Rik |
T |
C |
13: 77,471,891 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
T |
C |
11: 94,259,421 (GRCm39) |
D340G |
probably benign |
Het |
| Adamts17 |
G |
T |
7: 66,728,095 (GRCm39) |
R879L |
possibly damaging |
Het |
| Adissp |
A |
C |
2: 130,993,634 (GRCm39) |
D22E |
probably damaging |
Het |
| Csmd2 |
T |
A |
4: 128,374,558 (GRCm39) |
|
probably benign |
Het |
| Dll1 |
C |
T |
17: 15,593,854 (GRCm39) |
R171Q |
probably benign |
Het |
| Dnm1 |
T |
A |
2: 32,243,133 (GRCm39) |
D30V |
possibly damaging |
Het |
| Fam184a |
G |
A |
10: 53,574,793 (GRCm39) |
S216L |
probably damaging |
Het |
| Fbxo33 |
G |
A |
12: 59,251,105 (GRCm39) |
A470V |
probably benign |
Het |
| Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,145 (GRCm39) |
S82R |
probably damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,861,019 (GRCm39) |
I221V |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,601,425 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
A |
G |
14: 75,051,060 (GRCm39) |
L359P |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,120,489 (GRCm39) |
T882A |
probably benign |
Het |
| Med12 |
C |
T |
X: 100,321,684 (GRCm39) |
R456W |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,521,253 (GRCm39) |
S267P |
probably damaging |
Het |
| Mtpap |
G |
A |
18: 4,375,721 (GRCm39) |
G34R |
possibly damaging |
Het |
| Nf1 |
G |
A |
11: 79,436,257 (GRCm39) |
D1966N |
probably damaging |
Het |
| Nlrp9c |
G |
A |
7: 26,071,507 (GRCm39) |
T867I |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,335,596 (GRCm39) |
V941I |
probably benign |
Het |
| Or5k1b |
T |
A |
16: 58,581,511 (GRCm39) |
K9N |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,333,937 (GRCm39) |
I84V |
probably damaging |
Het |
| Polr3d |
T |
A |
14: 70,678,603 (GRCm39) |
|
probably null |
Het |
| Prkar2a |
G |
T |
9: 108,617,640 (GRCm39) |
V233L |
probably benign |
Het |
| Prl4a1 |
T |
C |
13: 28,207,359 (GRCm39) |
V211A |
probably damaging |
Het |
| Qpct |
T |
C |
17: 79,378,151 (GRCm39) |
V107A |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,079,031 (GRCm39) |
S1032P |
possibly damaging |
Het |
| Rims1 |
G |
T |
1: 22,367,178 (GRCm39) |
T1113K |
probably damaging |
Het |
| Rxra |
C |
T |
2: 27,649,657 (GRCm39) |
T454I |
probably damaging |
Het |
| S100z |
T |
C |
13: 95,615,127 (GRCm39) |
I13V |
probably damaging |
Het |
| Scp2 |
T |
C |
4: 107,948,477 (GRCm39) |
K167E |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,206 (GRCm39) |
F296L |
probably benign |
Het |
| Setd1b |
A |
G |
5: 123,286,514 (GRCm39) |
E520G |
unknown |
Het |
| Slc28a2 |
G |
A |
2: 122,283,019 (GRCm39) |
V308M |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,060,873 (GRCm39) |
I451K |
probably benign |
Het |
| Tarbp1 |
C |
T |
8: 127,170,881 (GRCm39) |
D1040N |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,323 (GRCm39) |
D1575G |
probably damaging |
Het |
| Tll1 |
T |
A |
8: 64,527,251 (GRCm39) |
|
probably benign |
Het |
| Tsks |
A |
T |
7: 44,600,198 (GRCm39) |
|
probably benign |
Het |
| Ttc1 |
A |
T |
11: 43,636,147 (GRCm39) |
M32K |
probably benign |
Het |
| Txlnb |
C |
T |
10: 17,714,723 (GRCm39) |
A385V |
probably damaging |
Het |
| Zc4h2 |
T |
C |
X: 94,687,019 (GRCm39) |
H98R |
probably damaging |
Het |
|
| Other mutations in Cacna1f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00796:Cacna1f
|
APN |
X |
7,497,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01693:Cacna1f
|
APN |
X |
7,491,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02143:Cacna1f
|
APN |
X |
7,480,234 (GRCm39) |
intron |
probably benign |
|
|
IGL02167:Cacna1f
|
APN |
X |
7,482,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Cacna1f
|
APN |
X |
7,482,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02466:Cacna1f
|
APN |
X |
7,495,644 (GRCm39) |
splice site |
probably null |
|
|
FR4304:Cacna1f
|
UTSW |
X |
7,486,300 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4340:Cacna1f
|
UTSW |
X |
7,486,306 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4548:Cacna1f
|
UTSW |
X |
7,486,297 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0629:Cacna1f
|
UTSW |
X |
7,486,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1791:Cacna1f
|
UTSW |
X |
7,486,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2507:Cacna1f
|
UTSW |
X |
7,492,687 (GRCm39) |
splice site |
probably null |
|
|
R2508:Cacna1f
|
UTSW |
X |
7,492,687 (GRCm39) |
splice site |
probably null |
|
|
R4195:Cacna1f
|
UTSW |
X |
7,475,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4365:Cacna1f
|
UTSW |
X |
7,476,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4366:Cacna1f
|
UTSW |
X |
7,476,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8111:Cacna1f
|
UTSW |
X |
7,487,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF011:Cacna1f
|
UTSW |
X |
7,486,295 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF025:Cacna1f
|
UTSW |
X |
7,486,296 (GRCm39) |
nonsense |
probably null |
|
|
RF026:Cacna1f
|
UTSW |
X |
7,486,314 (GRCm39) |
nonsense |
probably null |
|
|
RF027:Cacna1f
|
UTSW |
X |
7,486,293 (GRCm39) |
nonsense |
probably null |
|
|
RF028:Cacna1f
|
UTSW |
X |
7,486,302 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF028:Cacna1f
|
UTSW |
X |
7,486,299 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF032:Cacna1f
|
UTSW |
X |
7,486,302 (GRCm39) |
nonsense |
probably null |
|
|
RF035:Cacna1f
|
UTSW |
X |
7,486,293 (GRCm39) |
nonsense |
probably null |
|
|
RF040:Cacna1f
|
UTSW |
X |
7,485,210 (GRCm39) |
frame shift |
probably null |
|
|
RF044:Cacna1f
|
UTSW |
X |
7,486,296 (GRCm39) |
nonsense |
probably null |
|
|
RF056:Cacna1f
|
UTSW |
X |
7,486,314 (GRCm39) |
nonsense |
probably null |
|
|
RF060:Cacna1f
|
UTSW |
X |
7,486,299 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Z1088:Cacna1f
|
UTSW |
X |
7,476,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation