Incidental Mutation 'RF063:Calhm1'
| ID |
605472 |
| 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)
|
| Stock # |
RF063 (G1)
|
| Quality Score |
217.471 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47129474-47132613 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
TGGCTGTGGCTG to TGGCTGTGGCTGCGGCTGTGGCTG
at 47129695 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: 99.3%
- 20x: 98.6%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
CAGAAAGGAAAAGGTGGCCAG |
CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,846 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AGAAAGGAAAAGGTGGCCAG |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,847 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
G |
T |
2: 25,337,409 (GRCm39) |
E2421D |
probably damaging |
Het |
| Apc |
A |
AATAAAGCCC |
18: 34,415,062 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
CACA |
C |
4: 149,036,761 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
GTGCCGGTGCCCGT |
G |
12: 40,894,398 (GRCm39) |
|
probably null |
Het |
| F11r |
CCCCCCCCC |
CCCCCCCCCCC |
1: 171,288,758 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
C |
CAGCAGA |
2: 83,643,240 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTACGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GTGCTGGTG |
GTGCTGGTGCGTCTGCTGGTG |
5: 110,526,009 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTT |
TCCTTTTCCTTTTCCTTGTCCTTTTCCTTTTCCTTTGCCTTTT |
9: 106,447,816 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
AGGCCACCACTGCTCACAGGTGCTGTACCT |
A |
7: 80,373,499 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
GCT |
GCTCCT |
5: 25,520,762 (GRCm39) |
|
probably benign |
Het |
| Lrtm1 |
TAGCCTCAGTGGCC |
T |
14: 28,743,400 (GRCm39) |
|
probably null |
Het |
| Med12l |
AACA |
AACAACA |
3: 59,183,379 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCCGC |
3: 59,183,394 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
C |
CTGCCTCACTCATGGTCCTGTAGAGCAATGGGGATTA |
5: 90,756,801 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
TGTGCC |
TGTGCCCGTGCC |
11: 32,373,051 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
ATACATACATACCT |
AT |
5: 36,311,155 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
CCAG |
CCAGCGATCCTCCCCAGTCCCGCAAGGTCAG |
5: 77,164,273 (GRCm39) |
|
probably benign |
Het |
| Sry |
TGCTGCTGCTGCTGCTG |
T |
Y: 2,662,595 (GRCm39) |
|
probably null |
Het |
| Stard8 |
GAG |
GAGTAG |
X: 98,110,130 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
GATCCCCTTGGC |
GATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGATATCCCCTTGGC |
18: 60,966,645 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCTGCT |
15: 72,673,169 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
CTGCTGCT |
CTGCTGCTGCTGCTGTTGCTGCT |
15: 72,673,173 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
CAGAGCCACCAAGTACCT |
C |
7: 11,581,067 (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 |
|
|
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 |
|
|
| 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 |
Incidental Mutation