Mutagenetix > Incidental Mutations

Incidental Mutation 'R5762:Calhm1'

462729

Institutional Source

Beutler Lab

Gene Symbol

Calhm1

Ensembl Gene

ENSMUSG00000079258

Gene Name

calcium homeostasis modulator 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5762 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47141035-47144174 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to A at 47143619 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111813]

Predicted Effect

probably null
Transcript: ENSMUST00000111813

SMART Domains

Protein: ENSMUSP00000107444
Gene: ENSMUSG00000079258

Domain	Start	End	E-Value	Type
Pfam:Ca_hom_mod	1	255	5.6e-94	PFAM
low complexity region	267	276	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered cortical neuron electrical properties. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,896,598	D148E	probably benign	Het
Abca13	A	G	11: 9,581,665	I4631V	probably damaging	Het
Adamts16	A	T	13: 70,738,498	W1058R	probably damaging	Het
Adgrf5	A	G	17: 43,430,695	I163V	probably null	Het
Ano1	T	A	7: 144,648,037	Y338F	probably damaging	Het
Atp4a	A	G	7: 30,719,096	D603G	probably damaging	Het
B020031M17Rik	T	A	13: 119,949,965	Q35L	probably benign	Het
Bmp2k	GGCCCGC	GGC	5: 97,087,191		probably null	Het
Brinp2	T	C	1: 158,246,586	D655G	probably benign	Het
C3ar1	A	G	6: 122,850,362	S299P	probably benign	Het
Ccdc187	G	A	2: 26,276,092	P775L	possibly damaging	Het
Cd27	A	G	6: 125,236,598	F48S	probably damaging	Het
Cfap52	A	G	11: 67,954,121	Y41H	possibly damaging	Het
Cntn5	A	G	9: 9,748,389	S701P	possibly damaging	Het
Ctbp2	G	T	7: 132,995,359	A665D	probably damaging	Het
Ctsd	C	A	7: 142,383,529	G81C	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dpysl4	C	T	7: 139,091,937	A67V	probably benign	Het
Dst	C	T	1: 34,179,357	T1626I	probably damaging	Het
Etfdh	A	C	3: 79,615,954	D217E	probably null	Het
Far1	T	A	7: 113,568,189	Y494N	probably damaging	Het
Fndc1	G	A	17: 7,771,534	T1110M	unknown	Het
Frmd4a	G	T	2: 4,484,065	D78Y	probably damaging	Het
Fsip2	G	A	2: 82,977,916	M1526I	probably benign	Het
Ggn	C	T	7: 29,172,352	P399S	probably damaging	Het
Hap1	A	G	11: 100,355,774	W102R	probably damaging	Het
Herc2	T	A	7: 56,197,190	S3629R	possibly damaging	Het
Hist1h2ac	C	T	13: 23,683,905	G5S	probably damaging	Het
Hyal4	A	C	6: 24,765,862	Y405S	possibly damaging	Het
Ifi204	G	A	1: 173,752,759	T395I	probably damaging	Het
Igsf9	A	G	1: 172,498,438	E1147G	probably damaging	Het
Inpp5a	T	A	7: 139,538,181	I225N	possibly damaging	Het
Kcnv1	T	C	15: 45,109,122	K455R	probably damaging	Het
Kmt2c	T	C	5: 25,310,457	D2796G	probably benign	Het
Ngp	A	T	9: 110,422,333	D143V	probably benign	Het
Nlrp5	T	C	7: 23,418,839	C663R	possibly damaging	Het
Nup205	G	T	6: 35,227,680	R1469L	probably damaging	Het
Nup205	T	A	6: 35,230,548	F1512I	probably damaging	Het
Nwd1	T	C	8: 72,670,914	S594P	probably damaging	Het
Nxpe2	A	C	9: 48,319,575	V498G	probably benign	Het
P3h4	G	A	11: 100,411,851	R320C	probably damaging	Het
Plec	A	G	15: 76,179,255	L2273P	probably damaging	Het
Ppp1r14b	C	T	19: 6,976,583	L100F	probably damaging	Het
Prlhr	C	T	19: 60,467,068	W353*	probably null	Het
Ralgps2	C	T	1: 156,832,664		probably null	Het
Rrp12	C	T	19: 41,880,152	G584D	possibly damaging	Het
Scamp3	T	C	3: 89,181,197	F237L	probably damaging	Het
Scn10a	A	G	9: 119,635,441		probably null	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Shroom1	A	T	11: 53,463,991	D246V	probably benign	Het
Snapc4	T	A	2: 26,378,606	E14D	probably damaging	Het
Spag5	A	T	11: 78,304,146	Q93L	probably benign	Het
Tle1	C	T	4: 72,120,135		probably null	Het
Ttll10	G	A	4: 156,034,981	P683S	possibly damaging	Het
Unc13c	A	C	9: 73,812,367	D1006E	probably benign	Het
Unc80	A	T	1: 66,693,796	K3101N	possibly damaging	Het
Vdac1	A	G	11: 52,387,453	Y247C	possibly damaging	Het
Vmn2r1	G	A	3: 64,090,053	V377I	probably benign	Het
Vmn2r23	A	G	6: 123,733,393	T552A	probably damaging	Het
Xrcc3	C	T	12: 111,804,610	R295Q	probably damaging	Het
Zfp780b	T	C	7: 27,964,818	N104S	probably benign	Het
Zkscan17	A	G	11: 59,487,571	V262A	possibly damaging	Het

Other mutations in Calhm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4340:Calhm1	UTSW	19	47141251	unclassified	probably benign
FR4449:Calhm1	UTSW	19	47141274	unclassified	probably benign
FR4976:Calhm1	UTSW	19	47141262	unclassified	probably benign
R0328:Calhm1	UTSW	19	47141303	missense	possibly damaging	0.46
R0402:Calhm1	UTSW	19	47141457	missense	probably damaging	0.98
R0463:Calhm1	UTSW	19	47143841	missense	probably benign	0.16
R0608:Calhm1	UTSW	19	47143841	missense	probably benign	0.16
R1552:Calhm1	UTSW	19	47141201	missense	probably benign	0.00
R4647:Calhm1	UTSW	19	47143801	missense	probably damaging	0.98
R4648:Calhm1	UTSW	19	47143801	missense	probably damaging	0.98
R5766:Calhm1	UTSW	19	47143703	missense	probably benign	0.00
RF001:Calhm1	UTSW	19	47141276	unclassified	probably benign
RF010:Calhm1	UTSW	19	47141273	unclassified	probably benign
RF014:Calhm1	UTSW	19	47141265	unclassified	probably benign
RF015:Calhm1	UTSW	19	47141256	unclassified	probably benign
RF023:Calhm1	UTSW	19	47141273	unclassified	probably benign
RF025:Calhm1	UTSW	19	47141276	unclassified	probably benign
RF025:Calhm1	UTSW	19	47141277	unclassified	probably benign
RF030:Calhm1	UTSW	19	47141253	unclassified	probably benign
RF032:Calhm1	UTSW	19	47141283	frame shift	probably null
RF035:Calhm1	UTSW	19	47141253	unclassified	probably benign
RF036:Calhm1	UTSW	19	47141277	unclassified	probably benign
RF040:Calhm1	UTSW	19	47141277	unclassified	probably benign
RF050:Calhm1	UTSW	19	47141270	unclassified	probably benign
RF057:Calhm1	UTSW	19	47141270	unclassified	probably benign
RF063:Calhm1	UTSW	19	47141256	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAAATCTCTCAGCCTCTCAG -3'
(R):5'- GGCAAGTGCTTTCTCTGTGC -3'

Sequencing Primer
(F):5'- TCAGATCTGAGCTCAGGATGG -3'
(R):5'- AAGTGCTTTCTCTGTGCCTTCTG -3'

Posted On

2017-03-01