Incidental Mutation 'R3612:Cherp'
| ID |
269261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cherp
|
| Ensembl Gene |
ENSMUSG00000052488 |
| Gene Name |
calcium homeostasis endoplasmic reticulum protein |
| Synonyms |
DAN16, SCAF6, D8Wsu96e, 5730408I11Rik |
| MMRRC Submission |
040672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R3612 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73214333-73229070 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 73215840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064853]
[ENSMUST00000079510]
[ENSMUST00000121902]
[ENSMUST00000212991]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064853
|
| SMART Domains |
Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
200 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
Pfam:DUF4614
|
438 |
608 |
2e-71 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000079510
AA Change: R838W
|
| SMART Domains |
Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: R838W
| 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 |
probably benign
Transcript: ENSMUST00000121902
|
| SMART Domains |
Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
200 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
398 |
N/A |
INTRINSIC |
|
Pfam:DUF4614
|
400 |
575 |
1.3e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139130
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212991
AA Change: R827W
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,580,251 (GRCm39) |
V192A |
probably damaging |
Het |
| Acsm2 |
G |
C |
7: 119,190,553 (GRCm39) |
V90L |
probably damaging |
Het |
| Adam5 |
T |
C |
8: 25,308,105 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,290,542 (GRCm39) |
D1630E |
probably benign |
Het |
| Ccdc88c |
A |
T |
12: 100,905,332 (GRCm39) |
I1085N |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,270,256 (GRCm39) |
|
probably benign |
Het |
| Cdh19 |
A |
T |
1: 110,821,026 (GRCm39) |
C571S |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,377,443 (GRCm39) |
L1491* |
probably null |
Het |
| Diaph3 |
T |
C |
14: 87,274,893 (GRCm39) |
S188G |
probably null |
Het |
| Ech1 |
C |
T |
7: 28,529,668 (GRCm39) |
R34C |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 27,499,134 (GRCm39) |
S337P |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fah |
A |
G |
7: 84,234,498 (GRCm39) |
V412A |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,473,545 (GRCm39) |
E131D |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,337 (GRCm39) |
V130A |
possibly damaging |
Het |
| Gm4782 |
T |
A |
6: 50,585,610 (GRCm39) |
|
probably null |
Het |
| Klhl1 |
C |
T |
14: 96,619,206 (GRCm39) |
|
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myo15a |
G |
C |
11: 60,368,505 (GRCm39) |
D422H |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,961,653 (GRCm39) |
H360Q |
probably damaging |
Het |
| Or1e22 |
T |
C |
11: 73,376,766 (GRCm39) |
R295G |
probably benign |
Het |
| Ppargc1b |
T |
C |
18: 61,443,627 (GRCm39) |
N528S |
probably benign |
Het |
| Rprd2 |
G |
A |
3: 95,671,464 (GRCm39) |
P1313L |
probably damaging |
Het |
| Slc12a7 |
C |
A |
13: 73,958,042 (GRCm39) |
D955E |
probably benign |
Het |
| Slc9a2 |
G |
A |
1: 40,758,218 (GRCm39) |
|
probably null |
Het |
| Tex24 |
T |
A |
8: 27,835,201 (GRCm39) |
V243D |
probably benign |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,463 (GRCm39) |
T505A |
probably benign |
Het |
| Vps37a |
T |
C |
8: 40,997,977 (GRCm39) |
|
probably benign |
Het |
| Zmynd19 |
A |
G |
2: 24,841,492 (GRCm39) |
Y20C |
probably damaging |
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 |
|
R2845:Cherp
|
UTSW |
8 |
73,220,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CTGAATTAGAACCCAGGCCAG -3'
(R):5'- TGGTTGCTGTAACTGCCGTC -3'
Sequencing Primer
(F):5'- AACCCAGGCCAGCTGCAG -3'
(R):5'- ACGGTGGCATTCCCTTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation