Mutagenetix > Incidental Mutation

Incidental Mutation 'RF030:Calhm1'

604344

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 #

RF030 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

47129474-47132613 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CTGTGGCTGTGGCTGTGGCTGTGG to CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG at 47129692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035822] [ENSMUST00000111813] [ENSMUST00000140512]

AlphaFold

D3Z291

Predicted Effect

probably benign
Transcript: ENSMUST00000035822

SMART Domains

Protein: ENSMUSP00000047278
Gene: ENSMUSG00000033033

Domain	Start	End	E-Value	Type
Pfam:Ca_hom_mod	6	256	2.3e-88	PFAM

Predicted Effect

probably benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000140512

SMART Domains

Protein: ENSMUSP00000121661
Gene: ENSMUSG00000033033

Domain	Start	End	E-Value	Type
Pfam:Ca_hom_mod	6	258	2.9e-93	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GGC	GGCTGC	19: 5,475,254 (GRCm39)		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,475,263 (GRCm39)		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,738,920 (GRCm39)		probably benign	Het
Ankhd1	GCGGCG	GCGGCGCCGGCG	18: 36,693,966 (GRCm39)		probably benign	Het
Ankhd1	GGCGGCAGC	GGCGGCAGCGGCAGC	18: 36,693,980 (GRCm39)		probably benign	Het
AY761185	GGGCACTGTGG	GGG	8: 21,433,916 (GRCm39)		probably null	Het
B430218F22Rik	GG	GGTCGGCG	13: 118,523,384 (GRCm39)		probably benign	Het
Cox7a2l	GGA	GGATAGGGA	17: 83,810,151 (GRCm39)		probably benign	Het
Cul9	CCTC	CCTCCTC	17: 46,811,795 (GRCm39)		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,462 (GRCm39)		probably benign	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC	9: 86,922,468 (GRCm39)		probably benign	Het
Dmkn	GTG	GTGTTGGAAGTGGTGGAAGTGGTGGAAATG	7: 30,466,607 (GRCm39)		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eed	C	A	7: 89,604,240 (GRCm39)	A411S	probably benign	Het
Fer1l4	GGTC	G	2: 155,887,449 (GRCm39)		probably benign	Het
Frem3	GATC	GATCATC	8: 81,341,867 (GRCm39)		probably benign	Het
Gab3	CTTTT	CT	X: 74,043,583 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,632 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,631 (GRCm39)		probably benign	Het
Gab3	TCT	TCTCCT	X: 74,043,614 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,611 (GRCm39)		probably benign	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,325,037 (GRCm39)		probably null	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,755,850 (GRCm39)		probably null	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,646,090 (GRCm39)		probably benign	Het
Gucy2d	C	CTGGGGCCTG	7: 98,108,241 (GRCm39)		probably benign	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGACACAGCTGCAG	4: 59,610,647 (GRCm39)		probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,179,976 (GRCm39)		probably benign	Het
Irag2	ATTG	ATTGAGCACGTTG	6: 145,119,514 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)		probably benign	Het
Kmt2b	CTCCTC	CTCCTCTTCCTC	7: 30,285,802 (GRCm39)		probably benign	Het
Lce1m	C	CGGCTGCTGCCAA	3: 92,925,448 (GRCm39)		probably benign	Het
Lce1m	GCTGCCAC	GCTGCCACAGCAACTTCTGCCAC	3: 92,925,651 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGTAG	X: 70,162,434 (GRCm39)		probably null	Het
Map1a	CAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA	2: 121,136,792 (GRCm39)		probably benign	Het
Map1a	CA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA	2: 121,136,798 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,410 (GRCm39)		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)		probably null	Het
Pdik1l	C	CCACCAA	4: 134,006,827 (GRCm39)		probably benign	Het
Pkhd1l1	TTTTTTT	TTTTTTTTTGTTTTTT	15: 44,421,898 (GRCm39)		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	10: 84,694,344 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,473 (GRCm39)		probably benign	Het
Setd1a	GGTGGTAGT	GGTGGTAGTTGTGGTAGT	7: 127,384,483 (GRCm39)		probably benign	Het
Six5	CGGA	C	7: 18,828,725 (GRCm39)		probably benign	Het
Spmap2l	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,164,248 (GRCm39)		probably benign	Het
Tcof1	CTGCTGCTGC	CTGCTGCTGCTGC	18: 60,968,795 (GRCm39)		probably benign	Het
Tcof1	CCAGA	CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA	18: 60,966,640 (GRCm39)		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC	18: 60,966,646 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,038 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,037 (GRCm39)		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,593,019 (GRCm39)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,593,046 (GRCm39)		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)		probably benign	Het
Trappc9	TGCTGCT	TGCTGCTGCTGCTGCGGCTGCT	15: 72,673,174 (GRCm39)		probably benign	Het
Tsen2	GGA	GGACGA	6: 115,537,028 (GRCm39)		probably benign	Het
Wdr97	AGGAGGAGG	AG	15: 76,247,365 (GRCm39)		probably null	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,013,446 (GRCm39)		probably benign	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
R5762:Calhm1	UTSW	19	47,132,058 (GRCm39)	splice site	probably null
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
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'- ACACTTTGCTGAAGTAGGTGGC -3'
(R):5'- AGCAAGTACTGGTCCCACTAC -3'

Sequencing Primer
(F):5'- AAGTAGGTGGCCACTTCCTTGC -3'
(R):5'- GGTCCCACTACATTGACATTGAG -3'

Posted On

2019-12-04