Incidental Mutation 'R5824:Cherp'
ID |
450068 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cherp
|
Ensembl Gene |
ENSMUSG00000052488 |
Gene Name |
calcium homeostasis endoplasmic reticulum protein |
Synonyms |
DAN16, SCAF6, D8Wsu96e, 5730408I11Rik |
MMRRC Submission |
043216-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R5824 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
73214333-73229070 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 73216102 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: S775F
|
SMART Domains |
Protein: ENSMUSP00000078469 Gene: ENSMUSG00000052488 AA Change: S775F
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: S764F
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
A |
T |
13: 59,613,913 (GRCm39) |
H66Q |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 110,565,544 (GRCm39) |
|
probably null |
Het |
Ap4b1 |
A |
T |
3: 103,720,701 (GRCm39) |
I124F |
probably benign |
Het |
Arhgap10 |
A |
T |
8: 78,085,181 (GRCm39) |
Y462* |
probably null |
Het |
Btnl10 |
G |
T |
11: 58,814,266 (GRCm39) |
M315I |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,236,952 (GRCm39) |
V1994A |
possibly damaging |
Het |
Ckap5 |
G |
A |
2: 91,389,481 (GRCm39) |
A318T |
probably benign |
Het |
Cma1 |
T |
C |
14: 56,179,182 (GRCm39) |
K238E |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,505,154 (GRCm39) |
H2094Q |
probably damaging |
Het |
Ctif |
T |
C |
18: 75,743,749 (GRCm39) |
D141G |
possibly damaging |
Het |
Ctnna1 |
T |
C |
18: 35,312,939 (GRCm39) |
S264P |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,492,475 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
G |
15: 28,313,967 (GRCm39) |
T1928A |
probably benign |
Het |
Etfdh |
G |
A |
3: 79,517,252 (GRCm39) |
P379L |
probably damaging |
Het |
Gfra3 |
T |
C |
18: 34,844,264 (GRCm39) |
N92S |
probably damaging |
Het |
Gpr161 |
C |
A |
1: 165,138,560 (GRCm39) |
T382K |
possibly damaging |
Het |
Gspt2 |
T |
C |
X: 93,680,071 (GRCm39) |
V70A |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Kpna1 |
A |
G |
16: 35,840,575 (GRCm39) |
D205G |
possibly damaging |
Het |
Man2a2 |
T |
G |
7: 80,002,780 (GRCm39) |
D1067A |
probably benign |
Het |
Map3k4 |
G |
A |
17: 12,448,526 (GRCm39) |
H1551Y |
probably damaging |
Het |
Moxd1 |
A |
T |
10: 24,162,995 (GRCm39) |
I486F |
probably damaging |
Het |
Notch3 |
G |
T |
17: 32,372,835 (GRCm39) |
R579S |
possibly damaging |
Het |
Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
Or6c65 |
T |
C |
10: 129,604,250 (GRCm39) |
V295A |
probably damaging |
Het |
Or8b4 |
A |
G |
9: 37,830,861 (GRCm39) |
T308A |
probably benign |
Het |
Pira13 |
T |
C |
7: 3,827,753 (GRCm39) |
T135A |
probably damaging |
Het |
Recql4 |
C |
T |
15: 76,592,785 (GRCm39) |
C302Y |
probably damaging |
Het |
Reg3b |
G |
A |
6: 78,349,104 (GRCm39) |
V77I |
possibly damaging |
Het |
Terb1 |
T |
C |
8: 105,212,079 (GRCm39) |
T301A |
probably benign |
Het |
Tmem260 |
G |
A |
14: 48,742,785 (GRCm39) |
C540Y |
probably damaging |
Het |
Tmprss15 |
A |
T |
16: 78,831,201 (GRCm39) |
F385I |
probably damaging |
Het |
Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
Upk3bl |
T |
A |
5: 136,089,133 (GRCm39) |
Y196* |
probably null |
Het |
Vmn1r199 |
A |
T |
13: 22,567,748 (GRCm39) |
K304N |
probably benign |
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 |
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 |
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'- ACACTTGTTGCTTACGGTGG -3'
(R):5'- TCTTTCGAGCCAAGATGCGAG -3'
Sequencing Primer
(F):5'- AGTATGACTTGGACCTGGACC -3'
(R):5'- CAAGATGCGAGCACGGC -3'
|
Posted On |
2016-12-20 |