Mutagenetix > Incidental Mutation

Incidental Mutation 'RF035:Calhm1'

604557

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 #

RF035 (G1)

Quality Score

217.637

Status

Not validated

Chromosome

Chromosomal Location

47129474-47132613 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CTGTGGCTGTGGCTGTGGCTGTGG to CTGTGGCTGTGGTTGTGGCTGTGGCTGTGGCTGTGG 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: 99.4%
20x: 98.7%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	T	TTTGGCTGCC	1: 82,891,310 (GRCm39)		probably benign	Het
Acap3	TGCATCCTGGGCTGC	TGCATCCTGGGCTGCCGCATCCTGGGCTGC	4: 155,989,548 (GRCm39)		probably benign	Het
AI837181	G	GGCT	19: 5,475,266 (GRCm39)		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,738,920 (GRCm39)		probably benign	Het
Amot	GGAGCAGCAA	G	X: 144,233,984 (GRCm39)		probably benign	Het
Bltp1	TAT	TATTATTATTATTATGAT	3: 37,104,907 (GRCm39)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,486,293 (GRCm39)		probably null	Het
Chga	G	GCAT	12: 102,527,686 (GRCm39)		probably benign	Het
E4f1	CGC	CGCTGC	17: 24,674,164 (GRCm39)		probably benign	Het
E4f1	CCG	CCGGCG	17: 24,674,169 (GRCm39)		probably benign	Het
Eps8	C	CTCAG	6: 137,494,068 (GRCm39)		probably null	Het
Exd2	GCAGCCACAGCAGCCGCAGCAGCCGCAGCCACAGCCACAGCCACAGCCACAGCCACAGC	GCAGCCACAGC	12: 80,522,674 (GRCm39)		probably benign	Het
Exd2	CAGCCAGAGC	CAGC	12: 80,522,729 (GRCm39)		probably benign	Het
Gm10447	AAAAAAAAAGAAAAA	AAAAAA	11: 53,347,165 (GRCm39)		probably benign	Het
Gm10521	CTCTCTCTCT	CTCTCTCTCTCTCT	1: 171,723,860 (GRCm39)		probably null	Het
Gm8369	TGTG	TGTGCGAGTG	19: 11,489,137 (GRCm39)		probably benign	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,646,090 (GRCm39)		probably benign	Het
Ier5l	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 30,363,832 (GRCm39)		probably benign	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,285,782 (GRCm39)		probably benign	Het
Krtap28-10	CAG	CAGCCAAAG	1: 83,019,867 (GRCm39)		probably benign	Het
Krtap28-10	CCACCACAGC	CCACCACAGCCACAGTCACCACAGC	1: 83,020,002 (GRCm39)		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,530,501 (GRCm39)		probably null	Het
Mamld1	GCAACA	GCAACAACA	X: 70,162,418 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCGGC	X: 70,162,456 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,444 (GRCm39)		probably benign	Het
Manbal	CGATAGAAT	C	2: 157,237,932 (GRCm39)		probably null	Het
Map1a	GCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCA	2: 121,136,782 (GRCm39)		probably benign	Het
Mcph1	CTCT	CTCTTCT	8: 18,702,541 (GRCm39)		probably benign	Het
Nefh	CCTCACCTGGGGACTTGG	CCTCACCTGGGGACTTGGGCTCACCTGGGGACTTGG	11: 4,891,039 (GRCm39)		probably benign	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,458,060 (GRCm39)		probably benign	Het
Or2t49	TGGAGGTGGATTGG	TG	11: 58,393,208 (GRCm39)		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,001,061 (GRCm39)		probably benign	Het
Pdik1l	CCACCA	CCACCAACACCA	4: 134,006,821 (GRCm39)		probably benign	Het
Polr1has	CACCAC	CACCACCCCCACCACCACCACAACCAC	17: 37,275,958 (GRCm39)		probably benign	Het
Rassf6	GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC	GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTCTTCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,767 (GRCm39)		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT	10: 84,694,344 (GRCm39)		probably benign	Het
Rgs22	GCTAAAAAAAAAAAAAAAAA	G	15: 36,010,981 (GRCm39)		probably benign	Het
Rpgrip1	AGG	AGGGGG	14: 52,386,850 (GRCm39)		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGAGCACGGTGGTC	15: 76,499,066 (GRCm39)		probably benign	Het
Srpk2	ATCCT	AT	5: 23,730,573 (GRCm39)		probably benign	Het
Strn	AGTC	AGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCTGTC	17: 78,984,714 (GRCm39)		probably null	Het
Tcof1	AAGAT	AAGATTGGCCCTTTCCCAGAGATGCCCTTGGCTGCTGAGAT	18: 60,966,625 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)		probably benign	Het
Trav6d-5	ATTTTT	ATTTTTTTTTT	14: 53,032,791 (GRCm39)		probably benign	Het
Triobp	CAGGACTCCCTGTGCCCAACGG	CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG	15: 78,851,239 (GRCm39)		probably benign	Het
Tsen2	GGA	GGATGA	6: 115,537,028 (GRCm39)		probably benign	Het
Ttf2	TTCT	TTCTTCT	3: 100,870,473 (GRCm39)		probably benign	Het
Vat1l	C	T	8: 115,016,069 (GRCm39)	L320F	probably damaging	Het
Xirp2	TT	TTTAT	2: 67,355,888 (GRCm39)		probably benign	Het
Yipf3	AGAGGA	AGA	17: 46,559,898 (GRCm39)		probably benign	Het
Zfp933	TT	TTTGCGT	4: 147,910,188 (GRCm39)		probably null	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
RF030:Calhm1	UTSW	19	47,129,692 (GRCm39)	unclassified	probably benign
RF032:Calhm1	UTSW	19	47,129,722 (GRCm39)	frame shift	probably null
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'- ACACTTTGCTGAAGTAGGTGG -3'
(R):5'- AGCAAGTACTGGTCCCACTAC -3'

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

Posted On

2019-12-04