Incidental Mutation 'R1734:Cherp'
| ID |
199573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cherp
|
| Ensembl Gene |
ENSMUSG00000052488 |
| Gene Name |
calcium homeostasis endoplasmic reticulum protein |
| Synonyms |
DAN16, SCAF6, D8Wsu96e, 5730408I11Rik |
| MMRRC Submission |
039766-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R1734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73214333-73229070 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 73223932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079510]
[ENSMUST00000079510]
[ENSMUST00000212991]
[ENSMUST00000212991]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079510
|
| SMART Domains |
Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
| 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 null
Transcript: ENSMUST00000079510
|
| SMART Domains |
Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
| 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 null
Transcript: ENSMUST00000212991
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212991
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,396,596 (GRCm39) |
C379S |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,535,460 (GRCm39) |
C4695R |
probably benign |
Het |
| Actr10 |
T |
A |
12: 71,008,770 (GRCm39) |
V401E |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Aimp1 |
A |
T |
3: 132,380,557 (GRCm39) |
I59K |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,618,532 (GRCm39) |
|
probably null |
Het |
| Anln |
A |
T |
9: 22,262,251 (GRCm39) |
S947T |
possibly damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,291,854 (GRCm39) |
T733A |
probably damaging |
Het |
| BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
| Cblb |
T |
C |
16: 52,006,603 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Chac1 |
A |
T |
2: 119,183,939 (GRCm39) |
L180F |
probably damaging |
Het |
| Ckap4 |
A |
G |
10: 84,363,738 (GRCm39) |
S442P |
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,413,773 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
T |
A |
2: 37,683,668 (GRCm39) |
C1057S |
probably damaging |
Het |
| Dact2 |
T |
C |
17: 14,416,901 (GRCm39) |
D433G |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,021,744 (GRCm39) |
T3526M |
probably damaging |
Het |
| Ethe1 |
A |
G |
7: 24,307,809 (GRCm39) |
T210A |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,172,197 (GRCm39) |
S2839P |
probably benign |
Het |
| Fbxl7 |
T |
C |
15: 26,543,735 (GRCm39) |
Y304C |
probably damaging |
Het |
| Gad1-ps |
A |
T |
10: 99,281,637 (GRCm39) |
|
noncoding transcript |
Het |
| Grm3 |
C |
T |
5: 9,639,742 (GRCm39) |
R101K |
probably benign |
Het |
| Hspa12b |
A |
G |
2: 130,980,456 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Il10ra |
T |
C |
9: 45,167,241 (GRCm39) |
T437A |
probably benign |
Het |
| Itprid2 |
G |
A |
2: 79,488,166 (GRCm39) |
V750M |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,674,526 (GRCm39) |
F763L |
probably damaging |
Het |
| Map3k10 |
T |
C |
7: 27,357,540 (GRCm39) |
D746G |
probably damaging |
Het |
| Mettl9 |
T |
A |
7: 120,647,064 (GRCm39) |
Y57N |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,225,468 (GRCm39) |
E1803K |
probably damaging |
Het |
| Nol11 |
G |
A |
11: 107,066,449 (GRCm39) |
S447L |
possibly damaging |
Het |
| Or14a256 |
C |
T |
7: 86,265,425 (GRCm39) |
V143M |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,921,373 (GRCm39) |
|
probably null |
Het |
| Pde6a |
A |
G |
18: 61,419,036 (GRCm39) |
N804S |
probably damaging |
Het |
| Pepd |
A |
T |
7: 34,730,851 (GRCm39) |
D301V |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,663,954 (GRCm39) |
|
probably null |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,369,683 (GRCm39) |
S1877P |
possibly damaging |
Het |
| Retreg2 |
G |
T |
1: 75,119,630 (GRCm39) |
|
probably null |
Het |
| Slc7a11 |
G |
A |
3: 50,326,795 (GRCm39) |
Q489* |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,187,490 (GRCm39) |
D256N |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Spmip9 |
T |
A |
6: 70,890,645 (GRCm39) |
Q49L |
probably benign |
Het |
| Syce2 |
G |
A |
8: 85,613,776 (GRCm39) |
E168K |
probably benign |
Het |
| Tmem260 |
G |
T |
14: 48,746,550 (GRCm39) |
V609L |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,546,778 (GRCm39) |
D515G |
probably damaging |
Het |
| Tspan5 |
T |
C |
3: 138,603,901 (GRCm39) |
Y131H |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,586,319 (GRCm39) |
I466V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,157 (GRCm39) |
D24912G |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,603,323 (GRCm39) |
N1843K |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,409,285 (GRCm39) |
R204G |
probably damaging |
Het |
| Vps18 |
A |
T |
2: 119,124,423 (GRCm39) |
Q450L |
probably benign |
Het |
| Zbtb4 |
A |
G |
11: 69,667,289 (GRCm39) |
E198G |
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 |
|
|
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 |
|
|
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'- ACCAGTGTGCAAGTGCAGCAAG -3'
(R):5'- TTTTCCCAGGAGCAAGTAACGACAG -3'
Sequencing Primer
(F):5'- AGTACTTACCAGTGGTGCAGC -3'
(R):5'- GCAAGTAACGACAGCCGTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation