Incidental Mutation 'RF037:Cpne1'
ID |
604618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne1
|
Ensembl Gene |
ENSMUSG00000074643 |
Gene Name |
copine I |
Synonyms |
1810028N16Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.447)
|
Stock # |
RF037 (G1)
|
Quality Score |
169.457 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
155913765-155953847 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
TCCAC to TC
at 155915430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038860]
[ENSMUST00000079312]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000132494]
[ENSMUST00000136296]
[ENSMUST00000142960]
[ENSMUST00000147627]
[ENSMUST00000153634]
[ENSMUST00000184265]
|
AlphaFold |
Q8C166 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038860
|
SMART Domains |
Protein: ENSMUSP00000036484 Gene: ENSMUSG00000038180
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
transmembrane domain
|
166 |
188 |
N/A |
INTRINSIC |
low complexity region
|
214 |
222 |
N/A |
INTRINSIC |
Pfam:Sad1_UNC
|
293 |
426 |
1.9e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079312
|
SMART Domains |
Protein: ENSMUSP00000078292 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
468 |
8.96e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109607
|
SMART Domains |
Protein: ENSMUSP00000105236 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109608
|
SMART Domains |
Protein: ENSMUSP00000105237 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127956
|
SMART Domains |
Protein: ENSMUSP00000114923 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
28 |
N/A |
INTRINSIC |
low complexity region
|
73 |
172 |
N/A |
INTRINSIC |
RRM
|
217 |
287 |
1.05e-1 |
SMART |
RRM
|
343 |
415 |
2.73e-7 |
SMART |
RRM
|
457 |
529 |
8.73e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132494
|
SMART Domains |
Protein: ENSMUSP00000139175 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Pfam:RRM_6
|
5 |
70 |
1.5e-5 |
PFAM |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
RRM
|
305 |
375 |
1.05e-1 |
SMART |
RRM
|
431 |
503 |
2.73e-7 |
SMART |
RRM
|
545 |
617 |
8.73e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136296
|
SMART Domains |
Protein: ENSMUSP00000122994 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
123 |
218 |
7.88e-5 |
SMART |
Pfam:Copine
|
279 |
378 |
2.3e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140109
|
SMART Domains |
Protein: ENSMUSP00000121998 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
Pfam:Copine
|
1 |
148 |
2.1e-50 |
PFAM |
Pfam:vWA-TerF-like
|
5 |
111 |
2.5e-7 |
PFAM |
low complexity region
|
167 |
185 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142960
|
SMART Domains |
Protein: ENSMUSP00000121299 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
2.4e-11 |
SMART |
C2
|
123 |
206 |
3e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147627
|
SMART Domains |
Protein: ENSMUSP00000116982 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
Pfam:Copine
|
303 |
350 |
1.3e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153634
|
SMART Domains |
Protein: ENSMUSP00000115167 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
123 |
218 |
7.88e-5 |
SMART |
Pfam:Copine
|
279 |
325 |
4.1e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183733
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184265
|
SMART Domains |
Protein: ENSMUSP00000138888 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a protein that contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Its activity is also upregulated in mouse embryos. This gene and the gene for RNA binding motif protein 12 overlap at map location 2 H2. Two alternatively spliced variants that encode the same isoform have been identified for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5430401F13Rik |
AAGGAAAAGGTGGCCAG |
AAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,850 (GRCm39) |
|
probably benign |
Het |
5430401F13Rik |
AGGAAAAGGTGGCCAG |
AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,851 (GRCm39) |
|
probably benign |
Het |
Abcf1 |
TGTC |
T |
17: 36,274,080 (GRCm39) |
|
probably benign |
Het |
Ankrd24 |
GAGG |
GAGGCAGAGGCTTAGG |
10: 81,479,407 (GRCm39) |
|
probably null |
Het |
Ckap2l |
TGCA |
T |
2: 129,112,569 (GRCm39) |
|
probably benign |
Het |
Cox7a2l |
GGA |
GGAGGGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
GGGGCGGAGCACAGTTCCTA |
GGGGCGGAGCACAGTTCCTATCTCGTATTGTGGGCGGAGCACAGTTCCTA |
9: 20,821,415 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
TCGTT |
TCGTTTTGGGGGCTGAGCACAGTTCCTACCGCGTT |
9: 20,821,437 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
TTCCTACCTCGTT |
TTCCTACCTCGTTTTGGGGGCGGAGCATAGGTCCTACCTCGTT |
9: 20,821,429 (GRCm39) |
|
probably null |
Het |
Ehbp1 |
ACTG |
A |
11: 21,956,783 (GRCm39) |
|
probably benign |
Het |
Eml6 |
TCCTAAAAAAACAAAAC |
TC |
11: 29,702,549 (GRCm39) |
|
probably benign |
Het |
Fbrsl1 |
G |
GCGTGTGCTAGTA |
5: 110,526,017 (GRCm39) |
|
probably null |
Het |
Gabre |
CTC |
CTCCGGGTC |
X: 71,313,667 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
GTG |
GTGGGTATG |
19: 11,489,146 (GRCm39) |
|
probably benign |
Het |
Igf1r |
GGAGATGGAGC |
GGAGATGGAGCTTGAGATGGAGC |
7: 67,875,924 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
ACAG |
ACAGCCCCAG |
1: 83,019,866 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
ACAGC |
ACAGCCACAGCCACCCCAGC |
1: 83,020,007 (GRCm39) |
|
probably benign |
Het |
Lce1m |
C |
CCGCTGCTGCCAT |
3: 92,925,607 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG |
CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG |
14: 75,184,989 (GRCm39) |
|
probably benign |
Het |
Map1a |
AGCTCCAGCTCCAGCTCCAGCTCCA |
AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,775 (GRCm39) |
|
probably benign |
Het |
Mast4 |
CCTCGGGGACAAGCTGTGAGTTGGGGAAC |
CC |
13: 102,875,749 (GRCm39) |
|
probably benign |
Het |
Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
Nefh |
TGGGGACTTGG |
TGGGGACTTGGACTCCCCGGGGGACTTGG |
11: 4,891,046 (GRCm39) |
|
probably benign |
Het |
Nefh |
TTGGCCTCAGCTGGGGACTTGGCCTCA |
TTGGCCTCAGCTGGAGACTTGGCCTCAGCTGGGGACTTGGCCTCA |
11: 4,890,999 (GRCm39) |
|
probably benign |
Het |
Nefh |
TGGC |
TGGCGTCACCTGGGGACTGGGC |
11: 4,891,054 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
AGCAGTGAGGAGCAAGCTGAGA |
AGCAGTGAGGAGCAAGCTGAGATACACGTTCGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,070 (GRCm39) |
|
probably benign |
Het |
Or4k41 |
G |
A |
2: 111,279,896 (GRCm39) |
G137D |
not run |
Het |
Ren1 |
ACCGC |
AC |
1: 133,278,519 (GRCm39) |
|
probably benign |
Het |
Sbp |
AAGATG |
AAGATGCTGACAACAGAGATG |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
Sbp |
ATG |
ATGCTGACAACAAAGCTG |
17: 24,164,361 (GRCm39) |
|
probably benign |
Het |
Six5 |
CGGA |
C |
7: 18,828,725 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
CAAGGCCAG |
CAAGGCCAGCGATCCTCCCCAGTCCCGAAAGGCCAG |
5: 77,164,268 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
TGGGCTTG |
TGGGCTTGTCAGAATCACCTCCTGGGGGCTTG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
Ufl1 |
C |
T |
4: 25,280,628 (GRCm39) |
R73Q |
possibly damaging |
Het |
Zfhx3 |
CAGCAGCA |
CAGCAGCAATAGCAGCA |
8: 109,682,730 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cpne1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02118:Cpne1
|
APN |
2 |
155,919,563 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02291:Cpne1
|
APN |
2 |
155,920,340 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02719:Cpne1
|
APN |
2 |
155,920,137 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03011:Cpne1
|
APN |
2 |
155,919,917 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03347:Cpne1
|
APN |
2 |
155,921,096 (GRCm39) |
missense |
probably damaging |
1.00 |
johannesburg
|
UTSW |
2 |
155,919,561 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Cpne1
|
UTSW |
2 |
155,913,945 (GRCm39) |
frame shift |
probably null |
|
FR4449:Cpne1
|
UTSW |
2 |
155,915,422 (GRCm39) |
intron |
probably benign |
|
FR4976:Cpne1
|
UTSW |
2 |
155,913,945 (GRCm39) |
frame shift |
probably null |
|
R0496:Cpne1
|
UTSW |
2 |
155,921,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R0735:Cpne1
|
UTSW |
2 |
155,920,670 (GRCm39) |
critical splice donor site |
probably null |
|
R0792:Cpne1
|
UTSW |
2 |
155,919,339 (GRCm39) |
missense |
probably benign |
0.00 |
R1874:Cpne1
|
UTSW |
2 |
155,920,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R2015:Cpne1
|
UTSW |
2 |
155,920,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R2518:Cpne1
|
UTSW |
2 |
155,915,891 (GRCm39) |
missense |
probably damaging |
0.99 |
R3000:Cpne1
|
UTSW |
2 |
155,915,342 (GRCm39) |
makesense |
probably null |
|
R3875:Cpne1
|
UTSW |
2 |
155,918,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5021:Cpne1
|
UTSW |
2 |
155,940,193 (GRCm39) |
intron |
probably benign |
|
R5385:Cpne1
|
UTSW |
2 |
155,916,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R5654:Cpne1
|
UTSW |
2 |
155,919,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R5959:Cpne1
|
UTSW |
2 |
155,920,143 (GRCm39) |
missense |
probably benign |
0.00 |
R6775:Cpne1
|
UTSW |
2 |
155,920,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R7049:Cpne1
|
UTSW |
2 |
155,920,727 (GRCm39) |
missense |
probably damaging |
0.97 |
R7488:Cpne1
|
UTSW |
2 |
155,919,857 (GRCm39) |
missense |
probably benign |
0.00 |
R8212:Cpne1
|
UTSW |
2 |
155,920,134 (GRCm39) |
missense |
probably damaging |
0.96 |
R8332:Cpne1
|
UTSW |
2 |
155,920,317 (GRCm39) |
missense |
probably benign |
0.00 |
R8870:Cpne1
|
UTSW |
2 |
155,920,873 (GRCm39) |
missense |
probably benign |
0.30 |
R8921:Cpne1
|
UTSW |
2 |
155,913,965 (GRCm39) |
missense |
probably benign |
0.20 |
R9094:Cpne1
|
UTSW |
2 |
155,921,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R9095:Cpne1
|
UTSW |
2 |
155,918,210 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9311:Cpne1
|
UTSW |
2 |
155,919,723 (GRCm39) |
missense |
probably damaging |
0.99 |
R9380:Cpne1
|
UTSW |
2 |
155,920,721 (GRCm39) |
missense |
probably benign |
0.01 |
RF034:Cpne1
|
UTSW |
2 |
155,915,430 (GRCm39) |
intron |
probably benign |
|
RF043:Cpne1
|
UTSW |
2 |
155,915,430 (GRCm39) |
intron |
probably benign |
|
Z1176:Cpne1
|
UTSW |
2 |
155,919,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGCAAGTGTGGCTCTCTC -3'
(R):5'- AACCAGGGAAACTTACAGGC -3'
Sequencing Primer
(F):5'- CAAGTGTGGCTCTCTCTAGCAG -3'
(R):5'- CCCCTCCCTGATCTCGC -3'
|
Posted On |
2019-12-04 |