Incidental Mutation 'R3900:Cherp'
ID |
308935 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cherp
|
Ensembl Gene |
ENSMUSG00000052488 |
Gene Name |
calcium homeostasis endoplasmic reticulum protein |
Synonyms |
DAN16, SCAF6, D8Wsu96e, 5730408I11Rik |
MMRRC Submission |
041607-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R3900 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
73214333-73229070 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73223780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 201
(I201T)
|
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: I201T
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000078469 Gene: ENSMUSG00000052488 AA Change: I201T
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: ENSMUST00000212586
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212870
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212991
AA Change: I201T
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.5277 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
A |
T |
13: 54,700,781 (GRCm39) |
S212R |
probably damaging |
Het |
AI182371 |
T |
C |
2: 34,975,228 (GRCm39) |
I334V |
probably benign |
Het |
Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
Apc2 |
C |
A |
10: 80,131,806 (GRCm39) |
|
probably null |
Het |
Bcl6 |
T |
G |
16: 23,796,304 (GRCm39) |
E41A |
possibly damaging |
Het |
Brpf1 |
A |
G |
6: 113,295,394 (GRCm39) |
I674V |
probably benign |
Het |
Cluh |
A |
G |
11: 74,557,930 (GRCm39) |
H1056R |
probably benign |
Het |
Csgalnact2 |
A |
T |
6: 118,097,975 (GRCm39) |
F122I |
probably damaging |
Het |
Cubn |
C |
A |
2: 13,291,791 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
T |
11: 117,985,634 (GRCm39) |
I1481N |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,305,510 (GRCm39) |
Y1561C |
probably damaging |
Het |
Elfn1 |
G |
A |
5: 139,957,719 (GRCm39) |
R241H |
probably damaging |
Het |
Eml5 |
G |
A |
12: 98,791,782 (GRCm39) |
R1245C |
probably damaging |
Het |
Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm6133 |
A |
G |
18: 78,393,365 (GRCm39) |
N120D |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igsf9 |
T |
C |
1: 172,317,125 (GRCm39) |
L35P |
probably damaging |
Het |
Khdc3 |
T |
C |
9: 73,011,628 (GRCm39) |
|
probably benign |
Het |
Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
Mrgpra1 |
G |
T |
7: 46,985,275 (GRCm39) |
R135S |
possibly damaging |
Het |
Or4c11b |
A |
T |
2: 88,625,273 (GRCm39) |
L182F |
possibly damaging |
Het |
Or8g2b |
A |
G |
9: 39,750,698 (GRCm39) |
|
probably null |
Het |
Otud3 |
T |
C |
4: 138,624,196 (GRCm39) |
N282S |
probably benign |
Het |
Prkar1a |
A |
G |
11: 109,551,901 (GRCm39) |
K130R |
probably benign |
Het |
Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
Rictor |
T |
G |
15: 6,818,954 (GRCm39) |
D1392E |
probably benign |
Het |
Setd2 |
C |
T |
9: 110,421,586 (GRCm39) |
R273W |
probably damaging |
Het |
Slc22a18 |
C |
A |
7: 143,033,507 (GRCm39) |
A86E |
probably damaging |
Het |
Slc24a1 |
A |
T |
9: 64,835,426 (GRCm39) |
S900R |
probably damaging |
Het |
Smarcc1 |
T |
C |
9: 109,947,586 (GRCm39) |
|
probably benign |
Het |
Smoc1 |
T |
C |
12: 81,214,287 (GRCm39) |
V234A |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,544,030 (GRCm39) |
T4443A |
possibly damaging |
Het |
Timp2 |
C |
T |
11: 118,194,542 (GRCm39) |
D139N |
probably damaging |
Het |
Trim69 |
A |
G |
2: 122,009,322 (GRCm39) |
T461A |
probably benign |
Het |
Ubash3b |
C |
T |
9: 40,942,860 (GRCm39) |
D211N |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,206,373 (GRCm39) |
|
probably null |
Het |
Ubr5 |
T |
C |
15: 38,019,486 (GRCm39) |
D752G |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,580,264 (GRCm39) |
I633N |
possibly damaging |
Het |
Usp36 |
T |
A |
11: 118,170,650 (GRCm39) |
D28V |
possibly damaging |
Het |
Wdr6 |
G |
A |
9: 108,452,968 (GRCm39) |
A305V |
probably damaging |
Het |
Zfp248 |
T |
C |
6: 118,406,527 (GRCm39) |
N253S |
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 |
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 |
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'- ACTGTCCTGGGAGTACAAGC -3'
(R):5'- AGCGAGTTTGACAACCTGCTAC -3'
Sequencing Primer
(F):5'- TACAAGCAGTGAACCAGTGTGC -3'
(R):5'- TTGACACCTGCACAAAGGATG -3'
|
Posted On |
2015-04-17 |