Mutagenetix > Incidental Mutation

Incidental Mutation 'R5762:Calhm1'

462729

Institutional Source

Beutler Lab

Gene Symbol

Calhm1

Ensembl Gene

ENSMUSG00000079258

Gene Name

calcium homeostasis modulator 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5762 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47129474-47132613 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to A at 47132058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107444 (fasta)

Gene Model

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

AlphaFold

D3Z291

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: 77,044,445 (GRCm39)	D148E	probably benign	Het
Abca13	A	G	11: 9,531,665 (GRCm39)	I4631V	probably damaging	Het
Adamts16	A	T	13: 70,886,617 (GRCm39)	W1058R	probably damaging	Het
Adgrf5	A	G	17: 43,741,586 (GRCm39)	I163V	probably null	Het
Ano1	T	A	7: 144,201,774 (GRCm39)	Y338F	probably damaging	Het
Atp4a	A	G	7: 30,418,521 (GRCm39)	D603G	probably damaging	Het
Bmp2k	GGCCCGC	GGC	5: 97,235,050 (GRCm39)		probably null	Het
Brinp2	T	C	1: 158,074,156 (GRCm39)	D655G	probably benign	Het
C3ar1	A	G	6: 122,827,321 (GRCm39)	S299P	probably benign	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Cd27	A	G	6: 125,213,561 (GRCm39)	F48S	probably damaging	Het
Cfap52	A	G	11: 67,844,947 (GRCm39)	Y41H	possibly damaging	Het
Cntn5	A	G	9: 9,748,394 (GRCm39)	S701P	possibly damaging	Het
Ctbp2	G	T	7: 132,597,088 (GRCm39)	A665D	probably damaging	Het
Ctsd	C	A	7: 141,937,266 (GRCm39)	G81C	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dpysl4	C	T	7: 138,671,853 (GRCm39)	A67V	probably benign	Het
Dst	C	T	1: 34,218,438 (GRCm39)	T1626I	probably damaging	Het
Etfdh	A	C	3: 79,523,261 (GRCm39)	D217E	probably null	Het
Far1	T	A	7: 113,167,396 (GRCm39)	Y494N	probably damaging	Het
Fndc1	G	A	17: 7,990,366 (GRCm39)	T1110M	unknown	Het
Frmd4a	G	T	2: 4,488,876 (GRCm39)	D78Y	probably damaging	Het
Fsip2	G	A	2: 82,808,260 (GRCm39)	M1526I	probably benign	Het
Ggn	C	T	7: 28,871,777 (GRCm39)	P399S	probably damaging	Het
H2ac6	C	T	13: 23,867,888 (GRCm39)	G5S	probably damaging	Het
Hap1	A	G	11: 100,246,600 (GRCm39)	W102R	probably damaging	Het
Herc2	T	A	7: 55,846,938 (GRCm39)	S3629R	possibly damaging	Het
Hyal4	A	C	6: 24,765,861 (GRCm39)	Y405S	possibly damaging	Het
Ifi204	G	A	1: 173,580,325 (GRCm39)	T395I	probably damaging	Het
Igsf9	A	G	1: 172,326,005 (GRCm39)	E1147G	probably damaging	Het
Inpp5a	T	A	7: 139,118,097 (GRCm39)	I225N	possibly damaging	Het
Kcnv1	T	C	15: 44,972,518 (GRCm39)	K455R	probably damaging	Het
Kmt2c	T	C	5: 25,515,455 (GRCm39)	D2796G	probably benign	Het
Ngp	A	T	9: 110,251,401 (GRCm39)	D143V	probably benign	Het
Nlrp5	T	C	7: 23,118,264 (GRCm39)	C663R	possibly damaging	Het
Nup205	G	T	6: 35,204,615 (GRCm39)	R1469L	probably damaging	Het
Nup205	T	A	6: 35,207,483 (GRCm39)	F1512I	probably damaging	Het
Nwd1	T	C	8: 73,397,542 (GRCm39)	S594P	probably damaging	Het
Nxpe2	A	C	9: 48,230,875 (GRCm39)	V498G	probably benign	Het
P3h4	G	A	11: 100,302,677 (GRCm39)	R320C	probably damaging	Het
Plec	A	G	15: 76,063,455 (GRCm39)	L2273P	probably damaging	Het
Ppp1r14b	C	T	19: 6,953,951 (GRCm39)	L100F	probably damaging	Het
Prlhr	C	T	19: 60,455,506 (GRCm39)	W353*	probably null	Het
Ralgps2	C	T	1: 156,660,234 (GRCm39)		probably null	Het
Rrp12	C	T	19: 41,868,591 (GRCm39)	G584D	possibly damaging	Het
Scamp3	T	C	3: 89,088,504 (GRCm39)	F237L	probably damaging	Het
Scn10a	A	G	9: 119,464,507 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shroom1	A	T	11: 53,354,818 (GRCm39)	D246V	probably benign	Het
Snapc4	T	A	2: 26,268,618 (GRCm39)	E14D	probably damaging	Het
Spag5	A	T	11: 78,194,972 (GRCm39)	Q93L	probably benign	Het
Tcstv5	T	A	13: 120,411,501 (GRCm39)	Q35L	probably benign	Het
Tle1	C	T	4: 72,038,372 (GRCm39)		probably null	Het
Ttll10	G	A	4: 156,119,438 (GRCm39)	P683S	possibly damaging	Het
Unc13c	A	C	9: 73,719,649 (GRCm39)	D1006E	probably benign	Het
Unc80	A	T	1: 66,732,955 (GRCm39)	K3101N	possibly damaging	Het
Vdac1	A	G	11: 52,278,280 (GRCm39)	Y247C	possibly damaging	Het
Vmn2r1	G	A	3: 63,997,474 (GRCm39)	V377I	probably benign	Het
Vmn2r23	A	G	6: 123,710,352 (GRCm39)	T552A	probably damaging	Het
Xrcc3	C	T	12: 111,771,044 (GRCm39)	R295Q	probably damaging	Het
Zfp780b	T	C	7: 27,664,243 (GRCm39)	N104S	probably benign	Het
Zkscan17	A	G	11: 59,378,397 (GRCm39)	V262A	possibly damaging	Het

Other mutations in Calhm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4340:Calhm1	UTSW	19	47,129,690 (GRCm39)	unclassified	probably benign
FR4449:Calhm1	UTSW	19	47,129,713 (GRCm39)	unclassified	probably benign
FR4976:Calhm1	UTSW	19	47,129,701 (GRCm39)	unclassified	probably benign
R0328:Calhm1	UTSW	19	47,129,742 (GRCm39)	missense	possibly damaging	0.46
R0402:Calhm1	UTSW	19	47,129,896 (GRCm39)	missense	probably damaging	0.98
R0463:Calhm1	UTSW	19	47,132,280 (GRCm39)	missense	probably benign	0.16
R0608:Calhm1	UTSW	19	47,132,280 (GRCm39)	missense	probably benign	0.16
R1552:Calhm1	UTSW	19	47,129,640 (GRCm39)	missense	probably benign	0.00
R4647:Calhm1	UTSW	19	47,132,240 (GRCm39)	missense	probably damaging	0.98
R4648:Calhm1	UTSW	19	47,132,240 (GRCm39)	missense	probably damaging	0.98
R5766:Calhm1	UTSW	19	47,132,142 (GRCm39)	missense	probably benign	0.00
R9062:Calhm1	UTSW	19	47,129,828 (GRCm39)	missense	possibly damaging	0.64
RF001:Calhm1	UTSW	19	47,129,715 (GRCm39)	unclassified	probably benign
RF010:Calhm1	UTSW	19	47,129,712 (GRCm39)	unclassified	probably benign
RF014:Calhm1	UTSW	19	47,129,704 (GRCm39)	unclassified	probably benign
RF015:Calhm1	UTSW	19	47,129,695 (GRCm39)	unclassified	probably benign
RF023:Calhm1	UTSW	19	47,129,712 (GRCm39)	unclassified	probably benign
RF025:Calhm1	UTSW	19	47,129,716 (GRCm39)	unclassified	probably benign
RF025:Calhm1	UTSW	19	47,129,715 (GRCm39)	unclassified	probably benign
RF030:Calhm1	UTSW	19	47,129,692 (GRCm39)	unclassified	probably benign
RF032:Calhm1	UTSW	19	47,129,722 (GRCm39)	frame shift	probably null
RF035:Calhm1	UTSW	19	47,129,692 (GRCm39)	unclassified	probably benign
RF036:Calhm1	UTSW	19	47,129,716 (GRCm39)	unclassified	probably benign
RF040:Calhm1	UTSW	19	47,129,716 (GRCm39)	unclassified	probably benign
RF050:Calhm1	UTSW	19	47,129,709 (GRCm39)	unclassified	probably benign
RF057:Calhm1	UTSW	19	47,129,709 (GRCm39)	unclassified	probably benign
RF063:Calhm1	UTSW	19	47,129,695 (GRCm39)	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