Mutagenetix > Incidental Mutation

Incidental Mutation 'R7335:Cacna1i'

569455

Institutional Source

Beutler Lab

Gene Symbol

Cacna1i

Ensembl Gene

ENSMUSG00000022416

Gene Name

calcium channel, voltage-dependent, alpha 1I subunit

Synonyms

MMRRC Submission

045372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80171439-80282480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80259776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 1287 (F1287C)

Ref Sequence

ENSEMBL: ENSMUSP00000125063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160424] [ENSMUST00000162155]

AlphaFold

E9Q7P2

Predicted Effect

probably damaging
Transcript: ENSMUST00000160424
AA Change: F1287C

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

SMART Domains

Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: F1287C

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 damaging
Transcript: ENSMUST00000162155
AA Change: F1287C

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

SMART Domains

Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: F1287C

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,493,093 (GRCm39)	S35G	probably benign	Het
Adcy6	G	T	15: 98,501,757 (GRCm39)	Q286K	probably benign	Het
Agrn	A	G	4: 156,260,989 (GRCm39)	S676P	probably damaging	Het
Arpp21	A	T	9: 112,005,319 (GRCm39)		probably null	Het
Bmal2	A	G	6: 146,711,217 (GRCm39)	M74V	probably benign	Het
C1rb	A	T	6: 124,552,238 (GRCm39)	I319F	possibly damaging	Het
C2cd3	T	C	7: 100,071,810 (GRCm39)	V629A		Het
Catspere2	A	G	1: 177,926,074 (GRCm39)	I247V	probably benign	Het
Cd101	C	G	3: 100,926,045 (GRCm39)	A229P	probably benign	Het
Cdh23	T	C	10: 60,140,895 (GRCm39)	D3151G	probably damaging	Het
Cenpc1	C	A	5: 86,182,212 (GRCm39)	K557N	possibly damaging	Het
Col6a4	G	A	9: 105,954,091 (GRCm39)	T416M	possibly damaging	Het
Cyp2c67	A	T	19: 39,628,451 (GRCm39)	C164*	probably null	Het
Dop1b	A	G	16: 93,544,396 (GRCm39)	E179G	probably benign	Het
Duoxa2	A	T	2: 122,131,821 (GRCm39)	Y170F	possibly damaging	Het
Fras1	A	G	5: 96,884,829 (GRCm39)	K2569R	possibly damaging	Het
Fsip2	C	A	2: 82,813,462 (GRCm39)	H3260Q	probably benign	Het
Gm3402	T	C	5: 146,452,043 (GRCm39)	I121T	probably benign	Het
Herc3	T	A	6: 58,853,773 (GRCm39)	H606Q	possibly damaging	Het
Hmcn2	T	C	2: 31,282,169 (GRCm39)	V1927A	possibly damaging	Het
Hnf4g	A	G	3: 3,717,924 (GRCm39)	H347R	possibly damaging	Het
Hs3st3a1	A	G	11: 64,411,163 (GRCm39)	T234A	probably benign	Het
Hyal1	G	T	9: 107,456,359 (GRCm39)	V379L	probably benign	Het
Ighv1-19	A	G	12: 114,672,571 (GRCm39)		probably benign	Het
Iqcc	T	A	4: 129,510,501 (GRCm39)	Q338L	not run	Het
Kdm5b	T	C	1: 134,488,177 (GRCm39)	V34A	probably damaging	Het
Lgals4	T	C	7: 28,540,571 (GRCm39)	F225L	probably benign	Het
Lmtk3	C	T	7: 45,444,581 (GRCm39)	T1088I	unknown	Het
Magel2	A	T	7: 62,030,524 (GRCm39)	S1143C	unknown	Het
Mapk4	A	T	18: 74,070,338 (GRCm39)	L185Q	possibly damaging	Het
Mtcl2	T	C	2: 156,872,925 (GRCm39)	Q862R	possibly damaging	Het
Ncam1	A	G	9: 49,418,211 (GRCm39)	S1030P		Het
Nynrin	A	T	14: 56,101,371 (GRCm39)	T347S	probably benign	Het
Pak5	T	C	2: 135,940,219 (GRCm39)	T532A	probably damaging	Het
Pcdhb15	A	G	18: 37,607,389 (GRCm39)	E207G	probably damaging	Het
Pde6h	T	C	6: 136,940,211 (GRCm39)	W66R	probably damaging	Het
Pmaip1	T	C	18: 66,591,885 (GRCm39)		probably null	Het
Prkd3	A	G	17: 79,261,995 (GRCm39)	F774S	probably damaging	Het
Prox1	T	A	1: 189,894,042 (GRCm39)	R134S	possibly damaging	Het
Ptpn22	T	A	3: 103,793,335 (GRCm39)	H495Q	probably damaging	Het
Ptprj	G	T	2: 90,271,126 (GRCm39)	Q1201K	probably benign	Het
Rp1l1	A	G	14: 64,269,447 (GRCm39)	S1678G	probably benign	Het
Sez6l	G	T	5: 112,724,678 (GRCm39)		probably null	Het
Sgcg	T	A	14: 61,477,816 (GRCm39)	Y91F	probably damaging	Het
Skint2	C	T	4: 112,481,415 (GRCm39)	L93F	probably damaging	Het
Slc22a22	A	T	15: 57,126,771 (GRCm39)	D99E	probably benign	Het
Slco3a1	A	G	7: 73,934,090 (GRCm39)	I694T	probably damaging	Het
Smurf2	A	T	11: 106,736,911 (GRCm39)	I305N	possibly damaging	Het
Stac3	T	A	10: 127,340,769 (GRCm39)	V178D	probably benign	Het
Suclg2	G	A	6: 95,543,444 (GRCm39)	A329V	probably damaging	Het
Suclg2	T	A	6: 95,543,441 (GRCm39)	N330I	probably damaging	Het
Tas2r118	C	T	6: 23,969,749 (GRCm39)	C104Y	probably damaging	Het
Tom1l2	T	G	11: 60,135,991 (GRCm39)	E327D	probably benign	Het
Trit1	T	C	4: 122,910,572 (GRCm39)	M57T	possibly damaging	Het
Vav1	G	A	17: 57,603,720 (GRCm39)	S134N	probably benign	Het
Vmn2r82	T	C	10: 79,214,722 (GRCm39)	L235P	probably damaging	Het
Zfp735	T	A	11: 73,602,379 (GRCm39)	V441E	possibly 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
R7155:Cacna1i	UTSW	15	80,279,439 (GRCm39)	missense	probably benign	0.04
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
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'- TCATCATCTTCGGTATCCTGGG -3'
(R):5'- TGTCCATCCTGACAGAGCAG -3'

Sequencing Primer
(F):5'- CGGTATCCTGGGGGTGCAG -3'
(R):5'- CATCCTGACAGAGCAGGACTG -3'

Posted On

2019-09-13