Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Cacna1s'

565772

Institutional Source

Beutler Lab

Gene Symbol

Cacna1s

Ensembl Gene

ENSMUSG00000026407

Gene Name

calcium channel, voltage-dependent, L type, alpha 1S subunit

Synonyms

mdg, muscle dysgenesis, sj, Cav1.1, Cchl1a3, DHPR alpha1s, fmd

MMRRC Submission

045361-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135980549-136047268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136001446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 299 (Y299C)

Ref Sequence

ENSEMBL: ENSMUSP00000107699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112064] [ENSMUST00000112068] [ENSMUST00000160641] [ENSMUST00000161865]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000112064
AA Change: Y299C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107695
Gene: ENSMUSG00000026407
AA Change: Y299C

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	50	345	4.3e-68	PFAM
Pfam:Ion_trans	431	672	4.5e-56	PFAM
Pfam:PKD_channel	516	667	1.9e-7	PFAM
low complexity region	675	685	N/A	INTRINSIC
low complexity region	740	756	N/A	INTRINSIC
Pfam:Ion_trans	798	1076	2.6e-65	PFAM
Pfam:Ion_trans	1117	1392	1.2e-71	PFAM
Pfam:PKD_channel	1126	1387	8.4e-13	PFAM
Pfam:GPHH	1394	1463	2.3e-38	PFAM
Ca_chan_IQ	1515	1548	3.71e-14	SMART
low complexity region	1657	1669	N/A	INTRINSIC
Pfam:CAC1F_C	1756	1845	2.8e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112068
AA Change: Y299C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107699
Gene: ENSMUSG00000026407
AA Change: Y299C

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	88	333	9.1e-57	PFAM
PDB:4DEY\|B	334	417	1e-20	PDB
Pfam:Ion_trans	466	660	3.7e-46	PFAM
Pfam:PKD_channel	513	667	6.7e-7	PFAM
low complexity region	675	685	N/A	INTRINSIC
low complexity region	740	756	N/A	INTRINSIC
low complexity region	804	818	N/A	INTRINSIC
Pfam:Ion_trans	834	1064	3.9e-53	PFAM
Pfam:Ion_trans	1152	1361	6.7e-66	PFAM
Pfam:PKD_channel	1201	1368	8.4e-10	PFAM
Blast:EFh	1382	1410	5e-8	BLAST
Ca_chan_IQ	1496	1529	3.71e-14	SMART
low complexity region	1638	1650	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160641
AA Change: Y299C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125278
Gene: ENSMUSG00000026407
AA Change: Y299C

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	88	333	9.3e-57	PFAM
PDB:4DEY\|B	334	417	1e-20	PDB
Pfam:Ion_trans	466	660	3.8e-46	PFAM
Pfam:PKD_channel	513	667	6.7e-7	PFAM
low complexity region	675	685	N/A	INTRINSIC
low complexity region	740	756	N/A	INTRINSIC
low complexity region	804	818	N/A	INTRINSIC
Pfam:Ion_trans	834	1064	4e-53	PFAM
Pfam:PKD_channel	1126	1387	6.1e-12	PFAM
Pfam:Ion_trans	1152	1380	9e-65	PFAM
Blast:EFh	1401	1429	5e-8	BLAST
Ca_chan_IQ	1515	1548	3.71e-14	SMART
low complexity region	1657	1669	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161865
AA Change: Y52C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125262
Gene: ENSMUSG00000026407
AA Change: Y52C

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	3	98	1.1e-21	PFAM
Pfam:Ion_trans	184	425	3.3e-56	PFAM
Pfam:PKD_channel	267	420	1.8e-7	PFAM
low complexity region	428	438	N/A	INTRINSIC
low complexity region	493	509	N/A	INTRINSIC
Pfam:Ion_trans	551	829	1.9e-65	PFAM
Pfam:Ion_trans	870	1126	5.4e-72	PFAM
Pfam:PKD_channel	954	1121	7.2e-10	PFAM
Pfam:GPHH	1128	1197	1.8e-38	PFAM
Ca_chan_IQ	1249	1282	3.71e-14	SMART
low complexity region	1391	1403	N/A	INTRINSIC

Meta Mutation Damage Score

0.9604

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show edema and failure of myoblast differentiation by day 13 of embryonic development and die perinatally. All muscles degenerate and additional secondary anomalies of the skeleton, short jaw, and cleft palate are seen. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(3) Spontaneous(1)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,700,504 (GRCm39)	V278A	probably benign	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abce1	C	A	8: 80,411,885 (GRCm39)	G592*	probably null	Het
Acad10	A	C	5: 121,787,538 (GRCm39)	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,253,563 (GRCm39)	I672V	not run	Het
Adgrb1	A	T	15: 74,452,512 (GRCm39)	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,768,955 (GRCm39)	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,537,469 (GRCm39)	T418A	probably benign	Het
Azin1	G	A	15: 38,501,652 (GRCm39)	T33I	probably damaging	Het
Bicra	T	C	7: 15,706,425 (GRCm39)	T1339A	probably damaging	Het
Bltp2	A	G	11: 78,165,654 (GRCm39)	Q1346R	probably damaging	Het
Clip1	A	C	5: 123,751,857 (GRCm39)	C641W		Het
Clip3	T	C	7: 30,005,237 (GRCm39)	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,191,144 (GRCm39)	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,466,339 (GRCm39)	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,903,818 (GRCm39)	N280I	probably benign	Het
Diaph3	A	G	14: 87,104,020 (GRCm39)	F788S	probably damaging	Het
Drc7	A	G	8: 95,798,207 (GRCm39)	N484S	probably damaging	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Fat4	A	T	3: 38,943,842 (GRCm39)	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,649,673 (GRCm39)	K217*	probably null	Het
Igkv12-89	A	G	6: 68,812,061 (GRCm39)	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526 (GRCm39)		probably null	Het
Ipo8	T	A	6: 148,725,979 (GRCm39)	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,100,693 (GRCm39)	M1T	probably null	Het
Klrb1c	A	T	6: 128,761,220 (GRCm39)	C136S	probably benign	Het
Morn2	A	G	17: 80,604,688 (GRCm39)	E48G	probably damaging	Het
Myh1	A	T	11: 67,092,670 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,686,393 (GRCm39)	S603P	probably benign	Het
Nlrc3	G	A	16: 3,765,741 (GRCm39)	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,343,352 (GRCm39)	R76*	probably null	Het
Or1e1f	T	C	11: 73,855,634 (GRCm39)	S67P	probably damaging	Het
Or52n1	G	T	7: 104,382,800 (GRCm39)	T257K	probably damaging	Het
Or5h22	A	T	16: 58,894,555 (GRCm39)	M296K	probably benign	Het
Or7e176	A	C	9: 20,171,555 (GRCm39)	I140L	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Papolg	A	G	11: 23,817,394 (GRCm39)	V601A	not run	Het
Pde4dip	T	C	3: 97,666,198 (GRCm39)	T349A	probably benign	Het
Pdlim5	T	C	3: 142,017,741 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,366,676 (GRCm39)	N718S	probably benign	Het
Plcxd3	A	G	15: 4,546,401 (GRCm39)	H135R	probably damaging	Het
Plxna2	A	T	1: 194,327,191 (GRCm39)	Y375F	probably damaging	Het
Prkca	C	T	11: 108,231,471 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,535,628 (GRCm39)	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384 (GRCm39)	T80A	probably benign	Het
Ptpn4	C	T	1: 119,610,261 (GRCm39)	V696I	possibly damaging	Het
Pygl	A	T	12: 70,263,342 (GRCm39)	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,354,469 (GRCm39)	Y298H	probably damaging	Het
Rit2	A	G	18: 31,449,892 (GRCm39)		probably null	Het
Runx1t1	G	A	4: 13,846,935 (GRCm39)	G240R	probably damaging	Het
Scn10a	A	G	9: 119,493,845 (GRCm39)		probably null	Het
Serpina16	A	C	12: 103,638,691 (GRCm39)		probably null	Het
Slc17a3	A	T	13: 24,039,831 (GRCm39)	M290L		Het
Slc6a4	A	T	11: 76,901,522 (GRCm39)	M86L	probably benign	Het
Spag7	A	T	11: 70,556,139 (GRCm39)	V46E	probably benign	Het
Spata31h1	G	A	10: 82,127,131 (GRCm39)	R1960W	possibly damaging	Het
Sptlc1	T	C	13: 53,498,914 (GRCm39)	I271V	probably benign	Het
Stk17b	A	C	1: 53,796,674 (GRCm39)	H364Q	probably benign	Het
Strc	T	C	2: 121,209,933 (GRCm39)	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,705,026 (GRCm39)	D148V	probably damaging	Het
Tirap	G	A	9: 35,100,225 (GRCm39)	P153L	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem51	T	A	4: 141,759,094 (GRCm39)	D218V	probably damaging	Het
Trim40	A	T	17: 37,193,554 (GRCm39)	D218E	probably benign	Het
Ttc21b	T	C	2: 66,039,062 (GRCm39)	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,002,914 (GRCm39)	L108P	probably damaging	Het
Washc2	C	A	6: 116,204,379 (GRCm39)	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,502,137 (GRCm39)	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712 (GRCm39)	V82A	probably damaging	Het
Zfp853	G	C	5: 143,273,493 (GRCm39)	A724G	unknown	Het

Other mutations in Cacna1s

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Cacna1s	APN	1	136,012,011 (GRCm39)	nonsense	probably null
IGL00517:Cacna1s	APN	1	136,015,077 (GRCm39)	missense	probably damaging	1.00
IGL01316:Cacna1s	APN	1	136,046,702 (GRCm39)	missense	probably benign	0.01
IGL01348:Cacna1s	APN	1	136,002,890 (GRCm39)	missense	possibly damaging	0.95
IGL01739:Cacna1s	APN	1	136,024,870 (GRCm39)	critical splice donor site	probably null
IGL01773:Cacna1s	APN	1	136,046,491 (GRCm39)	missense	probably benign	0.32
IGL02056:Cacna1s	APN	1	136,046,738 (GRCm39)	missense	probably benign
IGL02262:Cacna1s	APN	1	136,035,867 (GRCm39)	missense	probably damaging	0.98
IGL02324:Cacna1s	APN	1	136,002,914 (GRCm39)	splice site	probably benign
IGL02352:Cacna1s	APN	1	136,020,990 (GRCm39)	splice site	probably benign
IGL02359:Cacna1s	APN	1	136,020,990 (GRCm39)	splice site	probably benign
IGL02370:Cacna1s	APN	1	136,013,085 (GRCm39)	missense	probably damaging	1.00
IGL02377:Cacna1s	APN	1	135,996,732 (GRCm39)	missense	probably damaging	1.00
IGL02474:Cacna1s	APN	1	136,046,118 (GRCm39)	missense	probably benign
IGL02606:Cacna1s	APN	1	136,007,257 (GRCm39)	missense	probably damaging	0.99
IGL02833:Cacna1s	APN	1	135,998,743 (GRCm39)	missense	probably benign	0.03
IGL02974:Cacna1s	APN	1	136,020,355 (GRCm39)	missense	possibly damaging	0.78
IGL03064:Cacna1s	APN	1	136,039,731 (GRCm39)	missense	probably damaging	1.00
IGL03093:Cacna1s	APN	1	136,043,802 (GRCm39)	missense	probably benign	0.00
IGL03286:Cacna1s	APN	1	136,005,397 (GRCm39)	missense	probably benign
brookstone	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
flyfish	UTSW	1	136,043,799 (GRCm39)	missense	probably benign	0.21
forelle	UTSW	1	136,023,596 (GRCm39)	missense	probably damaging	0.99
river	UTSW	1	136,033,582 (GRCm39)	missense	possibly damaging	0.88
stream	UTSW	1	136,033,552 (GRCm39)	missense	probably damaging	1.00
BB009:Cacna1s	UTSW	1	136,012,097 (GRCm39)	missense	probably damaging	0.99
BB019:Cacna1s	UTSW	1	136,012,097 (GRCm39)	missense	probably damaging	0.99
G1Funyon:Cacna1s	UTSW	1	136,001,179 (GRCm39)	unclassified	probably benign
N/A:Cacna1s	UTSW	1	136,001,247 (GRCm39)	missense	probably benign	0.00
R0030:Cacna1s	UTSW	1	136,022,727 (GRCm39)	critical splice donor site	probably null
R0030:Cacna1s	UTSW	1	136,022,727 (GRCm39)	critical splice donor site	probably null
R0097:Cacna1s	UTSW	1	136,028,360 (GRCm39)	missense	possibly damaging	0.79
R0097:Cacna1s	UTSW	1	136,028,360 (GRCm39)	missense	possibly damaging	0.79
R0240:Cacna1s	UTSW	1	136,001,234 (GRCm39)	unclassified	probably benign
R0255:Cacna1s	UTSW	1	136,046,544 (GRCm39)	missense	possibly damaging	0.93
R0302:Cacna1s	UTSW	1	136,028,342 (GRCm39)	missense	probably benign	0.01
R0319:Cacna1s	UTSW	1	135,998,455 (GRCm39)	missense	probably damaging	0.99
R0411:Cacna1s	UTSW	1	136,041,041 (GRCm39)	missense	probably damaging	1.00
R0413:Cacna1s	UTSW	1	136,025,947 (GRCm39)	missense	probably benign	0.00
R0482:Cacna1s	UTSW	1	136,041,132 (GRCm39)	missense	probably benign
R0491:Cacna1s	UTSW	1	136,016,746 (GRCm39)	splice site	probably benign
R0518:Cacna1s	UTSW	1	136,004,597 (GRCm39)	missense	probably benign
R0717:Cacna1s	UTSW	1	136,026,029 (GRCm39)	missense	probably damaging	1.00
R0725:Cacna1s	UTSW	1	136,026,264 (GRCm39)	splice site	probably benign
R0815:Cacna1s	UTSW	1	136,040,695 (GRCm39)	missense	possibly damaging	0.95
R1384:Cacna1s	UTSW	1	136,022,709 (GRCm39)	missense	probably benign	0.02
R1518:Cacna1s	UTSW	1	136,026,289 (GRCm39)	missense	probably damaging	1.00
R1548:Cacna1s	UTSW	1	136,038,675 (GRCm39)	missense	probably damaging	1.00
R1725:Cacna1s	UTSW	1	136,026,361 (GRCm39)	missense	probably damaging	1.00
R1728:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1729:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1730:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1739:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1762:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1783:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1784:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1785:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1800:Cacna1s	UTSW	1	136,004,592 (GRCm39)	missense	probably benign
R1924:Cacna1s	UTSW	1	136,016,755 (GRCm39)	splice site	probably null
R1969:Cacna1s	UTSW	1	136,046,833 (GRCm39)	missense	probably benign	0.42
R2072:Cacna1s	UTSW	1	136,007,242 (GRCm39)	missense	probably benign
R2380:Cacna1s	UTSW	1	136,023,586 (GRCm39)	missense	probably damaging	1.00
R3110:Cacna1s	UTSW	1	136,002,831 (GRCm39)	nonsense	probably null
R3112:Cacna1s	UTSW	1	136,002,831 (GRCm39)	nonsense	probably null
R3151:Cacna1s	UTSW	1	136,033,532 (GRCm39)	missense	probably damaging	1.00
R3696:Cacna1s	UTSW	1	136,033,552 (GRCm39)	missense	probably damaging	1.00
R3722:Cacna1s	UTSW	1	135,996,780 (GRCm39)	missense	possibly damaging	0.77
R3804:Cacna1s	UTSW	1	136,034,756 (GRCm39)	missense	possibly damaging	0.85
R3813:Cacna1s	UTSW	1	136,013,085 (GRCm39)	missense	probably damaging	1.00
R3905:Cacna1s	UTSW	1	136,012,007 (GRCm39)	missense	probably damaging	0.99
R3907:Cacna1s	UTSW	1	136,012,007 (GRCm39)	missense	probably damaging	0.99
R3909:Cacna1s	UTSW	1	136,012,007 (GRCm39)	missense	probably damaging	0.99
R4170:Cacna1s	UTSW	1	136,035,933 (GRCm39)	missense	probably damaging	1.00
R4329:Cacna1s	UTSW	1	136,046,771 (GRCm39)	missense	probably benign	0.00
R4485:Cacna1s	UTSW	1	136,004,590 (GRCm39)	missense	probably damaging	1.00
R4581:Cacna1s	UTSW	1	135,998,708 (GRCm39)	splice site	probably null
R4719:Cacna1s	UTSW	1	136,046,390 (GRCm39)	splice site	probably benign
R4816:Cacna1s	UTSW	1	136,043,007 (GRCm39)	missense	possibly damaging	0.89
R4909:Cacna1s	UTSW	1	136,007,342 (GRCm39)	missense	probably damaging	0.99
R4917:Cacna1s	UTSW	1	136,029,302 (GRCm39)	critical splice donor site	probably null
R5296:Cacna1s	UTSW	1	136,023,523 (GRCm39)	missense	probably benign	0.11
R5411:Cacna1s	UTSW	1	136,033,549 (GRCm39)	missense	probably benign	0.09
R5503:Cacna1s	UTSW	1	136,014,480 (GRCm39)	missense	probably damaging	1.00
R5533:Cacna1s	UTSW	1	136,026,113 (GRCm39)	critical splice donor site	probably null
R5714:Cacna1s	UTSW	1	136,039,804 (GRCm39)	missense	probably benign	0.44
R5775:Cacna1s	UTSW	1	136,035,860 (GRCm39)	missense	probably damaging	1.00
R5814:Cacna1s	UTSW	1	136,034,880 (GRCm39)	missense	probably benign	0.31
R5820:Cacna1s	UTSW	1	136,007,342 (GRCm39)	missense	probably damaging	1.00
R5822:Cacna1s	UTSW	1	136,039,816 (GRCm39)	missense	probably damaging	1.00
R5877:Cacna1s	UTSW	1	136,028,405 (GRCm39)	missense	probably damaging	0.99
R5923:Cacna1s	UTSW	1	136,004,560 (GRCm39)	missense	possibly damaging	0.79
R6021:Cacna1s	UTSW	1	136,034,225 (GRCm39)	missense	probably benign	0.15
R6037:Cacna1s	UTSW	1	135,998,705 (GRCm39)	missense	possibly damaging	0.90
R6037:Cacna1s	UTSW	1	135,998,705 (GRCm39)	missense	possibly damaging	0.90
R6056:Cacna1s	UTSW	1	136,033,574 (GRCm39)	missense	probably damaging	1.00
R6143:Cacna1s	UTSW	1	136,004,496 (GRCm39)	missense	probably damaging	0.99
R6222:Cacna1s	UTSW	1	136,032,360 (GRCm39)	missense	probably benign	0.00
R6237:Cacna1s	UTSW	1	136,033,582 (GRCm39)	missense	possibly damaging	0.88
R6274:Cacna1s	UTSW	1	136,016,783 (GRCm39)	missense	probably benign	0.02
R6609:Cacna1s	UTSW	1	136,041,129 (GRCm39)	missense	probably benign	0.30
R6626:Cacna1s	UTSW	1	136,022,703 (GRCm39)	missense	probably damaging	1.00
R6838:Cacna1s	UTSW	1	136,012,175 (GRCm39)	missense	possibly damaging	0.91
R6848:Cacna1s	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
R6849:Cacna1s	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
R6850:Cacna1s	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
R6851:Cacna1s	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
R6868:Cacna1s	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
R6879:Cacna1s	UTSW	1	136,043,697 (GRCm39)	missense	probably benign	0.12
R6893:Cacna1s	UTSW	1	136,005,431 (GRCm39)	missense	probably benign	0.05
R7017:Cacna1s	UTSW	1	136,023,596 (GRCm39)	missense	probably damaging	0.99
R7228:Cacna1s	UTSW	1	135,998,797 (GRCm39)	missense	possibly damaging	0.90
R7357:Cacna1s	UTSW	1	135,998,759 (GRCm39)	missense	probably damaging	0.99
R7385:Cacna1s	UTSW	1	136,020,371 (GRCm39)	missense	probably damaging	0.99
R7421:Cacna1s	UTSW	1	136,014,540 (GRCm39)	missense	probably damaging	1.00
R7505:Cacna1s	UTSW	1	136,013,187 (GRCm39)	nonsense	probably null
R7519:Cacna1s	UTSW	1	135,998,494 (GRCm39)	missense	probably damaging	0.99
R7675:Cacna1s	UTSW	1	136,038,612 (GRCm39)	missense	probably damaging	1.00
R7746:Cacna1s	UTSW	1	135,996,756 (GRCm39)	missense	probably damaging	0.99
R7779:Cacna1s	UTSW	1	136,046,767 (GRCm39)	missense	probably damaging	1.00
R7850:Cacna1s	UTSW	1	135,998,786 (GRCm39)	missense	probably damaging	1.00
R7932:Cacna1s	UTSW	1	136,012,097 (GRCm39)	missense	probably damaging	0.99
R7935:Cacna1s	UTSW	1	136,020,333 (GRCm39)	missense	possibly damaging	0.62
R7950:Cacna1s	UTSW	1	136,028,363 (GRCm39)	missense	probably benign	0.01
R7969:Cacna1s	UTSW	1	136,004,470 (GRCm39)	missense	probably damaging	1.00
R8083:Cacna1s	UTSW	1	136,023,529 (GRCm39)	missense	possibly damaging	0.91
R8101:Cacna1s	UTSW	1	136,046,403 (GRCm39)	missense	probably benign	0.02
R8123:Cacna1s	UTSW	1	136,035,917 (GRCm39)	missense	probably damaging	1.00
R8191:Cacna1s	UTSW	1	136,035,893 (GRCm39)	missense	probably damaging	1.00
R8194:Cacna1s	UTSW	1	136,005,430 (GRCm39)	missense	probably benign	0.33
R8251:Cacna1s	UTSW	1	136,014,461 (GRCm39)	missense	probably damaging	1.00
R8265:Cacna1s	UTSW	1	136,020,364 (GRCm39)	nonsense	probably null
R8301:Cacna1s	UTSW	1	136,001,179 (GRCm39)	unclassified	probably benign
R8310:Cacna1s	UTSW	1	136,015,075 (GRCm39)	missense	probably damaging	1.00
R8359:Cacna1s	UTSW	1	136,043,799 (GRCm39)	missense	probably benign	0.21
R8461:Cacna1s	UTSW	1	136,001,440 (GRCm39)	missense	possibly damaging	0.53
R8553:Cacna1s	UTSW	1	136,019,540 (GRCm39)	missense	possibly damaging	0.93
R8743:Cacna1s	UTSW	1	136,033,286 (GRCm39)	missense	probably damaging	1.00
R8766:Cacna1s	UTSW	1	136,002,881 (GRCm39)	missense	probably damaging	1.00
R8884:Cacna1s	UTSW	1	136,042,981 (GRCm39)	missense	probably benign	0.05
R8897:Cacna1s	UTSW	1	136,045,392 (GRCm39)	missense	probably benign	0.01
R8939:Cacna1s	UTSW	1	136,014,544 (GRCm39)	critical splice donor site	probably null
R8953:Cacna1s	UTSW	1	136,025,170 (GRCm39)	missense	possibly damaging	0.94
R9039:Cacna1s	UTSW	1	136,016,057 (GRCm39)	missense	probably benign
R9058:Cacna1s	UTSW	1	135,998,436 (GRCm39)	nonsense	probably null
R9137:Cacna1s	UTSW	1	135,996,744 (GRCm39)	missense	possibly damaging	0.89
R9332:Cacna1s	UTSW	1	136,020,452 (GRCm39)	nonsense	probably null
R9416:Cacna1s	UTSW	1	136,022,689 (GRCm39)	missense	possibly damaging	0.88
R9427:Cacna1s	UTSW	1	136,012,090 (GRCm39)	missense	probably benign	0.30
R9446:Cacna1s	UTSW	1	136,045,362 (GRCm39)	missense	probably benign	0.00
R9564:Cacna1s	UTSW	1	136,046,516 (GRCm39)	missense	probably benign
R9620:Cacna1s	UTSW	1	136,035,909 (GRCm39)	missense	probably damaging	1.00
X0025:Cacna1s	UTSW	1	136,043,708 (GRCm39)	missense	probably benign	0.00
Z1176:Cacna1s	UTSW	1	136,034,822 (GRCm39)	nonsense	probably null
Z1177:Cacna1s	UTSW	1	136,045,424 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCACCCTGTGCTAGAACTGG -3'
(R):5'- AACCCATGGAGCTCCTAGTAC -3'

Sequencing Primer
(F):5'- CCTGTGCTAGAACTGGCTCTG -3'
(R):5'- ATGGAGCTCCTAGTACCCATC -3'

Posted On

2019-06-26