Incidental Mutation 'R5556:Cherp'
ID |
435394 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cherp
|
Ensembl Gene |
ENSMUSG00000052488 |
Gene Name |
calcium homeostasis endoplasmic reticulum protein |
Synonyms |
DAN16, SCAF6, D8Wsu96e, 5730408I11Rik |
MMRRC Submission |
043113-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R5556 (G1)
|
Quality Score |
221 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
73214333-73229070 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 73221824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 313
(Q313H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079510]
[ENSMUST00000212991]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079510
AA Change: Q324H
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000078469 Gene: ENSMUSG00000052488 AA Change: Q324H
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 |
probably damaging
Transcript: ENSMUST00000212991
AA Change: Q313H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
T |
A |
11: 72,066,026 (GRCm39) |
|
probably null |
Het |
Abca13 |
A |
T |
11: 9,208,546 (GRCm39) |
I240F |
possibly damaging |
Het |
Accs |
A |
G |
2: 93,666,428 (GRCm39) |
Y420H |
probably damaging |
Het |
Aco2 |
T |
C |
15: 81,773,520 (GRCm39) |
Y20H |
probably damaging |
Het |
Adck2 |
T |
C |
6: 39,560,869 (GRCm39) |
V419A |
probably benign |
Het |
Bahd1 |
T |
A |
2: 118,746,751 (GRCm39) |
N123K |
probably damaging |
Het |
Cast |
A |
G |
13: 74,844,008 (GRCm39) |
|
probably null |
Het |
Cd164l2 |
T |
A |
4: 132,951,016 (GRCm39) |
V157E |
probably damaging |
Het |
Cdk11b |
C |
T |
4: 155,718,604 (GRCm39) |
Q185* |
probably null |
Het |
Ces2g |
T |
C |
8: 105,694,074 (GRCm39) |
F470S |
probably benign |
Het |
Chrna4 |
A |
G |
2: 180,675,773 (GRCm39) |
V110A |
possibly damaging |
Het |
Cndp2 |
A |
G |
18: 84,690,249 (GRCm39) |
V231A |
probably benign |
Het |
Cst7 |
A |
T |
2: 150,412,488 (GRCm39) |
H17L |
probably benign |
Het |
Decr1 |
C |
T |
4: 15,919,244 (GRCm39) |
D300N |
probably damaging |
Het |
Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
Dgkb |
T |
G |
12: 38,177,363 (GRCm39) |
V230G |
probably damaging |
Het |
Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
Disp3 |
C |
T |
4: 148,342,614 (GRCm39) |
G612D |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,832,972 (GRCm39) |
T1962A |
probably damaging |
Het |
Entrep2 |
A |
G |
7: 64,505,957 (GRCm39) |
F96S |
probably damaging |
Het |
Fibp |
T |
A |
19: 5,514,227 (GRCm39) |
V304E |
possibly damaging |
Het |
Flt3 |
T |
A |
5: 147,269,807 (GRCm39) |
|
probably null |
Het |
Kifc3 |
G |
A |
8: 95,835,087 (GRCm39) |
Q233* |
probably null |
Het |
Klhl42 |
C |
A |
6: 147,009,610 (GRCm39) |
S483Y |
probably benign |
Het |
Map3k19 |
G |
A |
1: 127,762,284 (GRCm39) |
R276* |
probably null |
Het |
Mecom |
A |
G |
3: 30,292,249 (GRCm39) |
S87P |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,218,664 (GRCm39) |
V416A |
probably benign |
Het |
Mepe |
G |
A |
5: 104,486,078 (GRCm39) |
G406D |
probably damaging |
Het |
Met |
T |
G |
6: 17,534,175 (GRCm39) |
L673V |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,315,267 (GRCm39) |
Y306* |
probably null |
Het |
Nrxn2 |
C |
A |
19: 6,540,121 (GRCm39) |
A814E |
probably damaging |
Het |
Nsmaf |
C |
T |
4: 6,398,621 (GRCm39) |
V828I |
probably benign |
Het |
Or2j3 |
T |
A |
17: 38,615,964 (GRCm39) |
K129N |
possibly damaging |
Het |
Or9r7 |
A |
T |
10: 129,962,728 (GRCm39) |
L66H |
probably damaging |
Het |
Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
Pcare |
T |
C |
17: 72,059,420 (GRCm39) |
K86E |
possibly damaging |
Het |
Pcdhb6 |
T |
A |
18: 37,467,442 (GRCm39) |
L121Q |
probably damaging |
Het |
Plekha7 |
G |
A |
7: 115,763,384 (GRCm39) |
T406I |
probably benign |
Het |
Prtg |
T |
C |
9: 72,758,986 (GRCm39) |
S447P |
probably damaging |
Het |
Ptprr |
A |
G |
10: 116,087,054 (GRCm39) |
Y267C |
probably damaging |
Het |
Rbpjl |
A |
G |
2: 164,249,982 (GRCm39) |
T134A |
probably benign |
Het |
Relch |
C |
A |
1: 105,620,892 (GRCm39) |
Q456K |
probably benign |
Het |
Rpe |
C |
A |
1: 66,745,625 (GRCm39) |
T55N |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,155,141 (GRCm39) |
D606G |
probably benign |
Het |
Setd5 |
T |
A |
6: 113,124,463 (GRCm39) |
N1105K |
probably benign |
Het |
Sh3d21 |
T |
C |
4: 126,056,029 (GRCm39) |
N126D |
possibly damaging |
Het |
Shank1 |
A |
G |
7: 43,993,739 (GRCm39) |
|
probably benign |
Het |
Srgap3 |
T |
A |
6: 112,716,039 (GRCm39) |
D627V |
probably damaging |
Het |
Tacc2 |
T |
A |
7: 130,276,336 (GRCm39) |
S1796T |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,344,870 (GRCm39) |
V217I |
probably damaging |
Het |
Trgc4 |
A |
T |
13: 19,536,477 (GRCm39) |
R178S |
unknown |
Het |
Tspan10 |
A |
T |
11: 120,335,541 (GRCm39) |
Y217F |
possibly damaging |
Het |
Usp3 |
G |
A |
9: 66,451,303 (GRCm39) |
T153M |
possibly damaging |
Het |
Xdh |
G |
T |
17: 74,204,759 (GRCm39) |
T1067K |
probably benign |
Het |
Zfp334 |
T |
C |
2: 165,222,504 (GRCm39) |
D513G |
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 |
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'- AACCTCATACCTGGCTGGGTAG -3'
(R):5'- TCAGGACGTTTAAAACTGCCC -3'
Sequencing Primer
(F):5'- CATACCTGGCTGGGTAGTTGGTG -3'
(R):5'- GGACGTTTAAAACTGCCCACTATTG -3'
|
Posted On |
2016-10-24 |