Incidental Mutation 'R5762:Calhm1'
ID 462729
Institutional Source Beutler Lab
Gene Symbol Calhm1
Ensembl Gene ENSMUSG00000079258
Gene Name calcium homeostasis modulator 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5762 (G1)
Quality Score 225
Status Not validated
Chromosome 19
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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2017-03-01