Mutagenetix > Incidental Mutation

Incidental Mutation 'R5187:Calm1'

397976

Institutional Source

Beutler Lab

Gene Symbol

Calm1

Ensembl Gene

ENSMUSG00000001175

Gene Name

calmodulin 1

Synonyms

MMRRC Submission

042766-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R5187 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

100165694-100176073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100166472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 19 (S19P)

Ref Sequence

ENSEMBL: ENSMUSP00000001204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001204] [ENSMUST00000110082]

AlphaFold

P0DP26
P0DP27
P0DP28

Predicted Effect

probably benign
Transcript: ENSMUST00000001204
AA Change: S19P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001204
Gene: ENSMUSG00000001175
AA Change: S19P

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
EFh	60	88	6.39e-9	SMART
EFh	96	124	5.19e-9	SMART
EFh	133	161	3.67e-9	SMART
EFh	169	197	1.13e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110082

SMART Domains

Protein: ENSMUSP00000105709
Gene: ENSMUSG00000001175

Domain	Start	End	E-Value	Type
EFh	12	40	6.39e-9	SMART
EFh	48	76	5.19e-9	SMART
EFh	85	113	3.67e-9	SMART
EFh	121	149	1.13e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153524

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the EF-hand calcium-binding protein family. The encoded protein acts as a calcium sensor and is involved in relaying signals to calcium-sensitive proteins, enzymes and ion channels. The protein-calcium complex binds target proteins to regulate several cellular processes, including smooth muscle contraction, inflammation, apoptosis and the immune response. Mutations in the human gene are associated with catecholaminergic polymorphic ventricular tachycardia and long QT syndrome 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcg5	A	G	17: 84,965,992 (GRCm39)	L628S	probably damaging	Het
Acbd3	C	T	1: 180,564,297 (GRCm39)	R201*	probably null	Het
Adsl	A	G	15: 80,833,106 (GRCm39)		probably benign	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cachd1	T	C	4: 100,823,397 (GRCm39)	V483A	possibly damaging	Het
Casq1	T	C	1: 172,040,641 (GRCm39)	N313S	possibly damaging	Het
Cav2	G	T	6: 17,286,935 (GRCm39)	A64S	possibly damaging	Het
Ccdc167	C	A	17: 29,924,485 (GRCm39)	A39S	possibly damaging	Het
Cd274	T	C	19: 29,359,936 (GRCm39)	L247P	probably benign	Het
Cdhr5	T	C	7: 140,854,361 (GRCm39)	E138G	probably damaging	Het
Cltb	C	T	13: 54,741,693 (GRCm39)	C81Y	probably benign	Het
Clvs1	T	C	4: 9,281,865 (GRCm39)	L103P	possibly damaging	Het
Cntrob	G	T	11: 69,212,717 (GRCm39)	Q106K	possibly damaging	Het
Ctsh	T	C	9: 89,936,643 (GRCm39)	L14P	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Cyb5r4	T	C	9: 86,909,001 (GRCm39)	V26A	possibly damaging	Het
Ddx18	A	G	1: 121,489,857 (GRCm39)	I184T	probably damaging	Het
Ddx60	T	A	8: 62,427,222 (GRCm39)	W766R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah5	G	A	15: 28,272,318 (GRCm39)	V1041I	probably benign	Het
Dnajc21	A	T	15: 10,464,050 (GRCm39)	N38K	probably benign	Het
Ermap	T	C	4: 119,043,015 (GRCm39)		probably null	Het
Fryl	A	G	5: 73,243,943 (GRCm39)	L1209P	possibly damaging	Het
Gm5093	T	C	17: 46,750,799 (GRCm39)	E76G	possibly damaging	Het
Grk6	T	C	13: 55,599,519 (GRCm39)	C169R	probably damaging	Het
Hmgn1	A	T	16: 95,923,627 (GRCm39)		probably null	Het
Lpcat2b	T	A	5: 107,582,001 (GRCm39)	Y443*	probably null	Het
Macf1	T	A	4: 123,365,882 (GRCm39)	M1395L	probably benign	Het
Mllt10	C	T	2: 18,213,585 (GRCm39)	Q997*	probably null	Het
Mocos	T	A	18: 24,825,611 (GRCm39)	V722E	probably damaging	Het
Moxd2	A	T	6: 40,856,271 (GRCm39)	L534M	probably benign	Het
Mphosph10	T	C	7: 64,035,568 (GRCm39)	M368V	possibly damaging	Het
Myo15a	G	A	11: 60,394,440 (GRCm39)	G2383D	probably damaging	Het
Myo5b	T	C	18: 74,834,745 (GRCm39)	I935T	possibly damaging	Het
Ndst4	T	A	3: 125,231,560 (GRCm39)	L43H	probably damaging	Het
Niban1	T	A	1: 151,579,580 (GRCm39)	L433Q	possibly damaging	Het
Nsl1	A	G	1: 190,807,387 (GRCm39)	N189D	probably benign	Het
Odad1	A	G	7: 45,578,540 (GRCm39)	I77V	probably damaging	Het
Or51e1	A	T	7: 102,358,868 (GRCm39)	H134L	probably damaging	Het
Pcdh8	T	C	14: 80,007,594 (GRCm39)	D323G	probably damaging	Het
Pkhd1	A	G	1: 20,279,448 (GRCm39)	S2957P	possibly damaging	Het
Prdm9	T	G	17: 15,783,155 (GRCm39)	E42D	probably damaging	Het
Rasal1	C	A	5: 120,813,460 (GRCm39)	H611Q	probably benign	Het
Relch	T	A	1: 105,646,534 (GRCm39)	L620*	probably null	Het
Rif1	T	A	2: 51,971,301 (GRCm39)	W260R	probably damaging	Het
Rpain	A	G	11: 70,864,658 (GRCm39)	D115G	probably benign	Het
Rpl3l	T	C	17: 24,951,429 (GRCm39)	V110A	possibly damaging	Het
Ryr2	T	A	13: 11,787,338 (GRCm39)	I1012F	probably damaging	Het
Sema4f	A	G	6: 82,894,631 (GRCm39)	V480A	probably benign	Het
Slc35a3	T	A	3: 116,474,794 (GRCm39)	K199N	probably damaging	Het
Slc5a6	T	C	5: 31,200,322 (GRCm39)	Y121C	probably damaging	Het
Slc7a14	T	C	3: 31,291,514 (GRCm39)		probably null	Het
Sort1	T	A	3: 108,231,992 (GRCm39)	I172N	probably damaging	Het
Spink5	C	A	18: 44,122,518 (GRCm39)	H328N	probably damaging	Het
Tbl1xr1	A	G	3: 22,263,770 (GRCm39)	D504G	probably damaging	Het
Tcaf3	C	T	6: 42,573,954 (GRCm39)	C86Y	possibly damaging	Het
Tfap2e	T	C	4: 126,628,434 (GRCm39)	D174G	probably benign	Het
Tmem42	T	C	9: 122,851,232 (GRCm39)	V65A	probably damaging	Het
Vmn1r225	C	G	17: 20,723,177 (GRCm39)	T206R	probably damaging	Het
Vmn2r38	A	G	7: 9,100,571 (GRCm39)	F65S	probably benign	Het
Vmn2r87	A	T	10: 130,333,208 (GRCm39)	L14Q	probably null	Het
Xirp2	T	C	2: 67,345,711 (GRCm39)	S2651P	probably benign	Het
Zfp429	G	A	13: 67,538,959 (GRCm39)	L162F	probably damaging	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het

Other mutations in Calm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02281:Calm1	APN	12	100,171,883 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Calm1	UTSW	12	100,171,944 (GRCm39)	missense	probably benign	0.00
R4727:Calm1	UTSW	12	100,166,485 (GRCm39)	missense	probably benign	0.08
R4817:Calm1	UTSW	12	100,169,832 (GRCm39)	critical splice acceptor site	probably null
R8174:Calm1	UTSW	12	100,171,967 (GRCm39)	missense	probably benign
R8301:Calm1	UTSW	12	100,171,944 (GRCm39)	missense	probably benign	0.00
R9178:Calm1	UTSW	12	100,171,979 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACCTCCTCTGAGTTTTGGG -3'
(R):5'- CTCTAATGGAAACCGAGGAGC -3'

Sequencing Primer
(F):5'- TCTGGGGCTGGACTCTACAG -3'
(R):5'- AGCGCGCCAACTCTCTC -3'

Posted On

2016-07-06