Incidental Mutation 'RF032:Calhm1'
| ID |
604426 |
| 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 # |
RF032 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47141035-47144174 bp(-) (GRCm38) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
C to CTGTGGCCGTGG
at 47141283 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably null
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: 98.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
TACCT |
TACCTGACCT |
17: 24,287,727 (GRCm38) |
|
probably null |
Het |
| Acap3 |
CTGCTG |
CTGCTGCATCCTGGGATGCTG |
4: 155,905,102 (GRCm38) |
|
probably benign |
Het |
| Arid1b |
GCG |
GCGTCG |
17: 4,995,588 (GRCm38) |
|
probably benign |
Het |
| Blm |
CTCC |
CTCCTCCTCCTCGTCC |
7: 80,512,930 (GRCm38) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,620,063 (GRCm38) |
|
probably null |
Het |
| Cluh |
CCCGAGCC |
CCCGAGCCCGAGCC |
11: 74,669,515 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 87,040,413 (GRCm38) |
|
probably benign |
Het |
| Dmkn |
GT |
GTTGTGAAAGTGGTGGAAGTGGTGGAATT |
7: 30,767,182 (GRCm38) |
|
probably benign |
Het |
| Efhd2 |
CGCC |
CGCCGCAGCC |
4: 141,874,772 (GRCm38) |
|
probably benign |
Het |
| Enah |
TGGCGGTGG |
TG |
1: 181,921,929 (GRCm38) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,511,778 (GRCm38) |
|
probably benign |
Het |
| H2-T10 |
TTTCCCACTGTA |
T |
17: 36,120,294 (GRCm38) |
|
probably null |
Het |
| Ifi207 |
GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC |
GCCTGAGCTGTGGAAGTCTC |
1: 173,735,157 (GRCm38) |
|
probably benign |
Het |
| Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 68,226,179 (GRCm38) |
|
probably benign |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,042,258 (GRCm38) |
|
probably benign |
Het |
| Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,640,489 (GRCm38) |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,275,981 (GRCm38) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,275,985 (GRCm38) |
|
probably benign |
Het |
| Med12l |
GCA |
GCACCA |
3: 59,275,989 (GRCm38) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGAAG |
5: 111,419,711 (GRCm38) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,829,936 (GRCm38) |
|
probably null |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,627,587 (GRCm38) |
|
probably benign |
Het |
| Olfr418 |
GTGACATC |
G |
1: 173,270,709 (GRCm38) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,792,972 (GRCm38) |
|
probably benign |
Het |
| Pik3c2g |
G |
GGAGA |
6: 139,635,658 (GRCm38) |
|
probably null |
Het |
| Pou3f1 |
GGCGGCCG |
GGCGGCCGCGGCCG |
4: 124,657,805 (GRCm38) |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,608,939 (GRCm38) |
|
probably benign |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,707,968 (GRCm38) |
|
probably null |
Het |
| Slc12a1 |
ACAAACC |
ACAAACCTTTGGCCACCAAACC |
2: 125,154,210 (GRCm38) |
|
probably benign |
Het |
| Smpx |
CCCCCCA |
C |
X: 157,720,923 (GRCm38) |
|
probably benign |
Het |
| Spaca1 |
TCGC |
TCGCTCACGC |
4: 34,049,854 (GRCm38) |
|
probably benign |
Het |
| Supt20 |
GCAGCA |
GCAGCACCAGCA |
3: 54,727,666 (GRCm38) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT |
6: 72,616,063 (GRCm38) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,616,074 (GRCm38) |
|
probably benign |
Het |
| Triobp |
CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
15: 78,967,036 (GRCm38) |
|
probably benign |
Het |
| Vat1l |
C |
T |
8: 114,289,329 (GRCm38) |
L320F |
probably damaging |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 108,956,092 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Calhm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4340:Calhm1
|
UTSW |
19 |
47,141,251 (GRCm38) |
unclassified |
probably benign |
|
|
FR4449:Calhm1
|
UTSW |
19 |
47,141,274 (GRCm38) |
unclassified |
probably benign |
|
|
FR4976:Calhm1
|
UTSW |
19 |
47,141,262 (GRCm38) |
unclassified |
probably benign |
|
|
R0328:Calhm1
|
UTSW |
19 |
47,141,303 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0402:Calhm1
|
UTSW |
19 |
47,141,457 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0463:Calhm1
|
UTSW |
19 |
47,143,841 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0608:Calhm1
|
UTSW |
19 |
47,143,841 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1552:Calhm1
|
UTSW |
19 |
47,141,201 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4647:Calhm1
|
UTSW |
19 |
47,143,801 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4648:Calhm1
|
UTSW |
19 |
47,143,801 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5762:Calhm1
|
UTSW |
19 |
47,143,619 (GRCm38) |
splice site |
probably null |
|
|
R5766:Calhm1
|
UTSW |
19 |
47,143,703 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9062:Calhm1
|
UTSW |
19 |
47,141,389 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
RF001:Calhm1
|
UTSW |
19 |
47,141,276 (GRCm38) |
unclassified |
probably benign |
|
|
RF010:Calhm1
|
UTSW |
19 |
47,141,273 (GRCm38) |
unclassified |
probably benign |
|
|
RF014:Calhm1
|
UTSW |
19 |
47,141,265 (GRCm38) |
unclassified |
probably benign |
|
|
RF015:Calhm1
|
UTSW |
19 |
47,141,256 (GRCm38) |
unclassified |
probably benign |
|
|
RF023:Calhm1
|
UTSW |
19 |
47,141,273 (GRCm38) |
unclassified |
probably benign |
|
|
RF025:Calhm1
|
UTSW |
19 |
47,141,277 (GRCm38) |
unclassified |
probably benign |
|
|
RF025:Calhm1
|
UTSW |
19 |
47,141,276 (GRCm38) |
unclassified |
probably benign |
|
|
RF030:Calhm1
|
UTSW |
19 |
47,141,253 (GRCm38) |
unclassified |
probably benign |
|
|
RF035:Calhm1
|
UTSW |
19 |
47,141,253 (GRCm38) |
unclassified |
probably benign |
|
|
RF036:Calhm1
|
UTSW |
19 |
47,141,277 (GRCm38) |
unclassified |
probably benign |
|
|
RF040:Calhm1
|
UTSW |
19 |
47,141,277 (GRCm38) |
unclassified |
probably benign |
|
|
RF050:Calhm1
|
UTSW |
19 |
47,141,270 (GRCm38) |
unclassified |
probably benign |
|
|
RF057:Calhm1
|
UTSW |
19 |
47,141,270 (GRCm38) |
unclassified |
probably benign |
|
|
RF063:Calhm1
|
UTSW |
19 |
47,141,256 (GRCm38) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTCATCAGTGGTGCCTC -3'
(R):5'- TGACCACATTACTAGCGTTCG -3'
Sequencing Primer
(F):5'- ATTCATGGTGCCTTGGTC -3'
(R):5'- CACATTACTAGCGTTCGTGGTACG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation