Incidental Mutation 'R0328:Calhm1'
ID |
25914 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Calhm1
|
Ensembl Gene |
ENSMUSG00000079258 |
Gene Name |
calcium homeostasis modulator 1 |
Synonyms |
|
MMRRC Submission |
038537-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0328 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47129474-47132613 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 47129742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 260
(G260D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107444
(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 |
possibly damaging
Transcript: ENSMUST00000111813
AA Change: G260D
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000107444 Gene: ENSMUSG00000079258 AA Change: G260D
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 |
|
Meta Mutation Damage Score |
0.1146 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.5%
- 20x: 90.8%
|
Validation Efficiency |
96% (46/48) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
T |
2: 68,574,624 (GRCm39) |
H618L |
possibly damaging |
Het |
Aacs |
T |
C |
5: 125,593,323 (GRCm39) |
V642A |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,587,796 (GRCm39) |
|
probably null |
Het |
Arhgap39 |
A |
G |
15: 76,636,152 (GRCm39) |
|
probably benign |
Het |
Bard1 |
C |
T |
1: 71,085,921 (GRCm39) |
V595I |
probably benign |
Het |
Bptf |
T |
C |
11: 106,937,953 (GRCm39) |
K2713E |
probably damaging |
Het |
Ccdc154 |
A |
C |
17: 25,390,779 (GRCm39) |
K643T |
probably benign |
Het |
Ccl4 |
T |
A |
11: 83,554,383 (GRCm39) |
S59T |
probably damaging |
Het |
Cntd1 |
T |
C |
11: 101,174,259 (GRCm39) |
S73P |
probably benign |
Het |
Colgalt2 |
A |
T |
1: 152,348,859 (GRCm39) |
D168V |
probably damaging |
Het |
Fam117a |
T |
C |
11: 95,266,452 (GRCm39) |
|
probably benign |
Het |
Fat1 |
A |
G |
8: 45,476,827 (GRCm39) |
T1935A |
probably benign |
Het |
Fbxw21 |
T |
A |
9: 108,975,653 (GRCm39) |
I248F |
possibly damaging |
Het |
Fhod3 |
A |
T |
18: 25,246,657 (GRCm39) |
M1288L |
probably benign |
Het |
Gm5114 |
T |
G |
7: 39,057,885 (GRCm39) |
K578T |
probably damaging |
Het |
Gxylt2 |
A |
T |
6: 100,727,496 (GRCm39) |
|
probably benign |
Het |
Helz |
G |
T |
11: 107,495,174 (GRCm39) |
A383S |
probably benign |
Het |
Ift172 |
C |
A |
5: 31,421,195 (GRCm39) |
E968* |
probably null |
Het |
Itpripl1 |
T |
C |
2: 126,983,924 (GRCm39) |
N66S |
possibly damaging |
Het |
Kcnma1 |
A |
G |
14: 23,423,265 (GRCm39) |
Y686H |
probably damaging |
Het |
Ndrg1 |
C |
A |
15: 66,815,008 (GRCm39) |
|
probably benign |
Het |
Ogdh |
T |
C |
11: 6,297,216 (GRCm39) |
V545A |
probably benign |
Het |
Or10al5 |
A |
G |
17: 38,063,284 (GRCm39) |
I180V |
possibly damaging |
Het |
P3h3 |
G |
A |
6: 124,831,269 (GRCm39) |
|
probably benign |
Het |
Ppme1 |
A |
T |
7: 99,983,182 (GRCm39) |
|
probably null |
Het |
Prkag1 |
T |
G |
15: 98,713,563 (GRCm39) |
D44A |
probably damaging |
Het |
Prpf39 |
T |
C |
12: 65,090,145 (GRCm39) |
|
probably benign |
Het |
Rabep1 |
C |
A |
11: 70,810,033 (GRCm39) |
R489S |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,523,168 (GRCm39) |
V75A |
possibly damaging |
Het |
Sema3d |
T |
C |
5: 12,498,042 (GRCm39) |
L16P |
possibly damaging |
Het |
Skida1 |
T |
C |
2: 18,051,997 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
T |
C |
7: 27,063,595 (GRCm39) |
Y2277C |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,298,945 (GRCm39) |
I1047T |
possibly damaging |
Het |
Syt17 |
A |
G |
7: 117,981,216 (GRCm39) |
Y369H |
probably benign |
Het |
Tmem131l |
C |
T |
3: 83,829,238 (GRCm39) |
|
probably benign |
Het |
Traf3ip2 |
A |
T |
10: 39,510,669 (GRCm39) |
D314V |
probably damaging |
Het |
Ttc28 |
T |
G |
5: 111,431,933 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
C |
7: 45,874,872 (GRCm39) |
|
probably benign |
Het |
Utp20 |
A |
T |
10: 88,602,969 (GRCm39) |
Y1884N |
possibly damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,824,251 (GRCm39) |
I502K |
probably benign |
Het |
Vmn2r60 |
T |
C |
7: 41,791,744 (GRCm39) |
|
probably benign |
Het |
Vmn2r63 |
T |
C |
7: 42,552,699 (GRCm39) |
I852M |
probably benign |
Het |
Vmn2r9 |
T |
A |
5: 108,995,405 (GRCm39) |
E414D |
probably benign |
Het |
Wnt4 |
A |
G |
4: 137,022,754 (GRCm39) |
T106A |
probably damaging |
Het |
Zbtb26 |
A |
T |
2: 37,326,807 (GRCm39) |
N76K |
possibly damaging |
Het |
Zfhx2 |
T |
C |
14: 55,309,445 (GRCm39) |
T885A |
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 |
|
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 |
|
RF063:Calhm1
|
UTSW |
19 |
47,129,695 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCCAGCTACAGCTCACACTTTG -3'
(R):5'- CATTACTAGCGTTCGTGGTACGCTC -3'
Sequencing Primer
(F):5'- CACACTTTGCTGAAGTAGGTGG -3'
(R):5'- GTACGCTCTGTGCGTCC -3'
|
Posted On |
2013-04-16 |