Incidental Mutation 'R2845:Cherp'
| ID |
251525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cherp
|
| Ensembl Gene |
ENSMUSG00000052488 |
| Gene Name |
calcium homeostasis endoplasmic reticulum protein |
| Synonyms |
DAN16, SCAF6, D8Wsu96e, 5730408I11Rik |
| MMRRC Submission |
040438-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R2845 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
73214333-73229070 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 73220247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 449
(A449S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079510]
[ENSMUST00000212991]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079510
AA Change: A449S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: A449S
| Domain | Start | End | E-Value | Type |
|---|
|
SWAP
|
13 |
65 |
9.76e-24 |
SMART |
|
low complexity region
|
78 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
124 |
N/A |
INTRINSIC |
|
RPR
|
156 |
286 |
5.32e-2 |
SMART |
|
coiled coil region
|
310 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
560 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
743 |
829 |
N/A |
INTRINSIC |
|
G_patch
|
850 |
900 |
9.8e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212870
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212991
AA Change: A438S
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
C |
T |
6: 87,436,949 (GRCm39) |
E634K |
possibly damaging |
Het |
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,429,894 (GRCm39) |
I676T |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
| Cplane1 |
G |
A |
15: 8,245,864 (GRCm39) |
R1412H |
probably damaging |
Het |
| Csnk1g2 |
A |
G |
10: 80,474,438 (GRCm39) |
S220G |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,766,835 (GRCm39) |
V20D |
probably damaging |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,339,849 (GRCm39) |
F714S |
probably damaging |
Het |
| Gpx6 |
A |
T |
13: 21,503,045 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mrgpra2a |
T |
A |
7: 47,076,878 (GRCm39) |
M127L |
probably benign |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,061,056 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
G |
A |
4: 143,380,868 (GRCm39) |
S385F |
probably damaging |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,546,972 (GRCm39) |
I168F |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
| Skint10 |
T |
C |
4: 112,573,023 (GRCm39) |
S258G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,701 (GRCm39) |
S182G |
probably benign |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zfp24 |
G |
T |
18: 24,150,885 (GRCm39) |
T87K |
probably damaging |
Het |
| Zfp407 |
G |
T |
18: 84,576,522 (GRCm39) |
C1530* |
probably null |
Het |
|
| Other mutations in Cherp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Cherp
|
APN |
8 |
73,222,090 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00955:Cherp
|
APN |
8 |
73,224,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0452:Cherp
|
UTSW |
8 |
73,215,366 (GRCm39) |
unclassified |
probably benign |
|
|
R0479:Cherp
|
UTSW |
8 |
73,216,991 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0594:Cherp
|
UTSW |
8 |
73,216,246 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1734:Cherp
|
UTSW |
8 |
73,223,932 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1781:Cherp
|
UTSW |
8 |
73,221,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Cherp
|
UTSW |
8 |
73,216,994 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2012:Cherp
|
UTSW |
8 |
73,228,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3612:Cherp
|
UTSW |
8 |
73,215,840 (GRCm39) |
unclassified |
probably benign |
|
|
R3693:Cherp
|
UTSW |
8 |
73,221,755 (GRCm39) |
small deletion |
probably benign |
|
|
R3899:Cherp
|
UTSW |
8 |
73,223,780 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3900:Cherp
|
UTSW |
8 |
73,223,780 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3970:Cherp
|
UTSW |
8 |
73,223,795 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4915:Cherp
|
UTSW |
8 |
73,222,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Cherp
|
UTSW |
8 |
73,217,110 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5556:Cherp
|
UTSW |
8 |
73,221,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5739:Cherp
|
UTSW |
8 |
73,221,659 (GRCm39) |
small deletion |
probably benign |
|
|
R5768:Cherp
|
UTSW |
8 |
73,216,957 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5824:Cherp
|
UTSW |
8 |
73,216,102 (GRCm39) |
unclassified |
probably benign |
|
|
R5963:Cherp
|
UTSW |
8 |
73,215,379 (GRCm39) |
unclassified |
probably benign |
|
|
R6255:Cherp
|
UTSW |
8 |
73,224,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7145:Cherp
|
UTSW |
8 |
73,222,230 (GRCm39) |
missense |
|
|
|
R7538:Cherp
|
UTSW |
8 |
73,216,263 (GRCm39) |
missense |
|
|
|
R7578:Cherp
|
UTSW |
8 |
73,218,102 (GRCm39) |
missense |
|
|
|
R8329:Cherp
|
UTSW |
8 |
73,215,852 (GRCm39) |
missense |
|
|
|
R9717:Cherp
|
UTSW |
8 |
73,216,920 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF001:Cherp
|
UTSW |
8 |
73,215,893 (GRCm39) |
frame shift |
probably null |
|
|
RF007:Cherp
|
UTSW |
8 |
73,215,903 (GRCm39) |
small deletion |
probably benign |
|
|
RF036:Cherp
|
UTSW |
8 |
73,215,891 (GRCm39) |
frame shift |
probably null |
|
|
RF036:Cherp
|
UTSW |
8 |
73,215,888 (GRCm39) |
frame shift |
probably null |
|
|
RF059:Cherp
|
UTSW |
8 |
73,215,899 (GRCm39) |
frame shift |
probably null |
|
|
T0722:Cherp
|
UTSW |
8 |
73,215,878 (GRCm39) |
small deletion |
probably benign |
|
|
T0975:Cherp
|
UTSW |
8 |
73,215,878 (GRCm39) |
small deletion |
probably benign |
|
|
Z1176:Cherp
|
UTSW |
8 |
73,224,797 (GRCm39) |
missense |
|
|
|
Z1177:Cherp
|
UTSW |
8 |
73,228,979 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Cherp
|
UTSW |
8 |
73,216,760 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTAGGTGCAAGCAGCCC -3'
(R):5'- TGTCACCTGTGTTAGATGACAAC -3'
Sequencing Primer
(F):5'- GTCCTGGAACTCGGATCTATAGAC -3'
(R):5'- CTGTGTTAGATGACAACAAGCCTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation