Incidental Mutation 'R6255:Cherp'
ID |
529326 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cherp
|
Ensembl Gene |
ENSMUSG00000052488 |
Gene Name |
calcium homeostasis endoplasmic reticulum protein |
Synonyms |
DAN16, SCAF6, D8Wsu96e, 5730408I11Rik |
MMRRC Submission |
044372-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R6255 (G1)
|
Quality Score |
56.0072 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
73214333-73229070 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 73224725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 125
(A125D)
|
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: A125D
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000078469 Gene: ENSMUSG00000052488 AA Change: A125D
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 |
probably damaging
Transcript: ENSMUST00000212991
AA Change: A125D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,602,659 (GRCm39) |
V7E |
possibly damaging |
Het |
Aars2 |
G |
A |
17: 45,825,535 (GRCm39) |
G333S |
probably damaging |
Het |
Aen |
T |
A |
7: 78,555,592 (GRCm39) |
I85N |
probably damaging |
Het |
Ahnak |
C |
A |
19: 8,985,389 (GRCm39) |
H2224Q |
possibly damaging |
Het |
Aldh18a1 |
C |
T |
19: 40,568,487 (GRCm39) |
R41H |
possibly damaging |
Het |
Bpifb9b |
T |
A |
2: 154,151,284 (GRCm39) |
W2R |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,779,390 (GRCm39) |
I139T |
probably benign |
Het |
Cdhr3 |
T |
A |
12: 33,103,474 (GRCm39) |
N381I |
probably damaging |
Het |
Cecr2 |
A |
G |
6: 120,735,011 (GRCm39) |
Y721C |
probably damaging |
Het |
Cfhr4 |
A |
T |
1: 139,680,749 (GRCm39) |
C256* |
probably null |
Het |
Cped1 |
G |
A |
6: 22,138,714 (GRCm39) |
|
probably null |
Het |
Ctdp1 |
T |
A |
18: 80,502,512 (GRCm39) |
|
probably null |
Het |
Cyp2c55 |
T |
C |
19: 39,007,111 (GRCm39) |
I169T |
probably benign |
Het |
Cyp4a31 |
T |
C |
4: 115,432,117 (GRCm39) |
L418P |
possibly damaging |
Het |
Efcab7 |
T |
C |
4: 99,717,627 (GRCm39) |
|
probably benign |
Het |
Efcab8 |
T |
C |
2: 153,652,188 (GRCm39) |
W466R |
possibly damaging |
Het |
Ehd3 |
C |
A |
17: 74,112,408 (GRCm39) |
N57K |
probably benign |
Het |
Ern2 |
C |
A |
7: 121,772,495 (GRCm39) |
K654N |
probably damaging |
Het |
Fbh1 |
A |
T |
2: 11,753,257 (GRCm39) |
F879L |
probably benign |
Het |
Gde1 |
T |
C |
7: 118,291,004 (GRCm39) |
D92G |
probably null |
Het |
Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
Ifrd2 |
A |
G |
9: 107,469,290 (GRCm39) |
E346G |
probably damaging |
Het |
Ism1 |
AACGGACCCGTTCTTGTGGCTATGCA |
AA |
2: 139,587,962 (GRCm39) |
|
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,888,963 (GRCm39) |
V1102A |
possibly damaging |
Het |
Itgb6 |
A |
T |
2: 60,435,620 (GRCm39) |
I710N |
probably damaging |
Het |
Kif1a |
T |
C |
1: 92,947,705 (GRCm39) |
K1578E |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,346,902 (GRCm39) |
|
probably null |
Het |
Kitl |
T |
C |
10: 99,925,095 (GRCm39) |
*57Q |
probably null |
Het |
Lrat |
C |
A |
3: 82,810,812 (GRCm39) |
V70F |
probably damaging |
Het |
Lrrc9 |
T |
A |
12: 72,533,797 (GRCm39) |
M1022K |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,566,895 (GRCm39) |
T1875A |
unknown |
Het |
Mup4 |
T |
A |
4: 59,957,890 (GRCm39) |
N171I |
probably damaging |
Het |
Npas4 |
G |
A |
19: 5,036,403 (GRCm39) |
T587I |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,909,295 (GRCm39) |
V217A |
probably benign |
Het |
Or6c1b |
A |
G |
10: 129,273,557 (GRCm39) |
N292S |
possibly damaging |
Het |
Osbp |
C |
A |
19: 11,955,317 (GRCm39) |
A323D |
possibly damaging |
Het |
Panx2 |
G |
A |
15: 88,951,821 (GRCm39) |
R96H |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,254,341 (GRCm39) |
R385G |
possibly damaging |
Het |
Pkn2 |
T |
C |
3: 142,517,360 (GRCm39) |
T476A |
probably damaging |
Het |
Plekha4 |
T |
C |
7: 45,203,226 (GRCm39) |
|
probably benign |
Het |
Ppfibp2 |
T |
C |
7: 107,280,969 (GRCm39) |
S94P |
probably damaging |
Het |
Pramel7 |
T |
A |
2: 87,320,007 (GRCm39) |
I429L |
probably benign |
Het |
Rif1 |
A |
G |
2: 51,975,065 (GRCm39) |
K325E |
probably damaging |
Het |
Ror2 |
T |
C |
13: 53,264,578 (GRCm39) |
Y826C |
probably damaging |
Het |
Rsph10b |
G |
A |
5: 143,896,564 (GRCm39) |
G19R |
probably damaging |
Het |
Slc20a1 |
A |
G |
2: 129,049,924 (GRCm39) |
N361D |
probably damaging |
Het |
Slc26a9 |
A |
G |
1: 131,691,647 (GRCm39) |
D630G |
probably benign |
Het |
Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,181,314 (GRCm39) |
|
probably null |
Het |
Tspan10 |
T |
A |
11: 120,335,368 (GRCm39) |
C159* |
probably null |
Het |
Uba6 |
G |
A |
5: 86,312,624 (GRCm39) |
T23I |
probably benign |
Het |
Vmn2r74 |
T |
C |
7: 85,601,659 (GRCm39) |
T660A |
possibly damaging |
Het |
Vwa5b1 |
T |
C |
4: 138,305,983 (GRCm39) |
N905S |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,488,214 (GRCm39) |
L963P |
possibly damaging |
Het |
Zfp990 |
T |
A |
4: 145,264,359 (GRCm39) |
N452K |
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 |
R5824:Cherp
|
UTSW |
8 |
73,216,102 (GRCm39) |
unclassified |
probably benign |
|
R5963:Cherp
|
UTSW |
8 |
73,215,379 (GRCm39) |
unclassified |
probably benign |
|
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'- AAGATGGGGCCAATAATGCCC -3'
(R):5'- TCACCAAAAGGAACCTGGGG -3'
Sequencing Primer
(F):5'- CCTCCCTACTCATTAAGAATGGTAG -3'
(R):5'- TCCTGCTAGTAATCTGCAAGCAG -3'
|
Posted On |
2018-07-31 |