Incidental Mutation 'RF059:Cherp'
| ID |
605354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cherp
|
| Ensembl Gene |
ENSMUSG00000052488 |
| Gene Name |
calcium homeostasis endoplasmic reticulum protein |
| Synonyms |
DAN16, SCAF6, D8Wsu96e, 5730408I11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
RF059 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
73214333-73229070 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GACCTGGA to G
at 73215899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078469
(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 |
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 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 |
probably null
Transcript: ENSMUST00000212991
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.6%
- 10x: 99.2%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
CTGTGGCTG |
CTGTGGCTGGTGTGGCTG |
1: 82,891,300 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
CTGTGGGCACTT |
CT |
8: 21,433,930 (GRCm39) |
|
probably null |
Het |
| Cpox |
C |
T |
16: 58,491,130 (GRCm39) |
R114C |
probably benign |
Het |
| Cyb5r4 |
GGGA |
GGGATGTGACAGACACACTGCCCAAGGA |
9: 86,922,498 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
ACCTCGTT |
ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT |
9: 20,821,434 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CCTCGTT |
CCTCGTTTTGGGGGCGGAGCACAGTTCCTATCTCGTT |
9: 20,821,435 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,596 (GRCm39) |
|
probably benign |
Het |
| Gabre |
TC |
TCTGGCAC |
X: 71,314,370 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
G |
GCAGCAGCCACAGCTGCAA |
4: 59,610,658 (GRCm39) |
|
probably benign |
Het |
| Klra2 |
GAAAGAAATCCA |
GAAAGAAATCCAAAGAAATCCA |
6: 131,198,801 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
CCTTCT |
CCT |
5: 25,518,477 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACAGCCACCACAG |
CCACAGCCACCACAGACACAGCCACCACAG |
1: 83,019,996 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
C |
CCACAGCCACCACAGA |
1: 83,020,011 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
TGGCCCTGGCCCCGGCCC |
TGGCCC |
16: 95,960,501 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GCTGCTGCCACCGCTGCTGCCACCGCTGCTGCCACAGCAACTGCTGCCACCGCTGCTGCCAC |
GCTGCTGCCACCGCTGCTGCCAC |
3: 92,925,636 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCGGC |
X: 70,162,438 (GRCm39) |
|
probably benign |
Het |
| Mcph1 |
CTCT |
CTCTTCT |
8: 18,702,541 (GRCm39) |
|
probably benign |
Het |
| Sbp |
GACAACAAAGATG |
GACAACAAAGATGCTTACAACAAAGATG |
17: 24,164,351 (GRCm39) |
|
probably benign |
Het |
| Sprr2b |
ATGCTGTGAGCCTTGTCCTCCTCCAAAGTGC |
ATGC |
3: 92,224,875 (GRCm39) |
|
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 |
|
|
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 |
|
|
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'- TTGTCAATCCCTACAACAGGCC -3'
(R):5'- TGGTTGCTGTAACTGCCGTC -3'
Sequencing Primer
(F):5'- CCCTGACACCAAGAGCCAGTG -3'
(R):5'- ACGGTGGCATTCCCTTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation