Incidental Mutation 'R1054:Cpne4'
| ID |
94201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne4
|
| Ensembl Gene |
ENSMUSG00000032564 |
| Gene Name |
copine IV |
| Synonyms |
3632411M23Rik, 4933406O10Rik |
| MMRRC Submission |
039144-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R1054 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
104443900-104911747 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104899600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 428
(T428A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057742]
[ENSMUST00000077190]
[ENSMUST00000213452]
|
| AlphaFold |
Q8BLR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057742
AA Change: T428A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: T428A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
24 |
130 |
4.29e-6 |
SMART |
|
C2
|
144 |
261 |
4.22e-5 |
SMART |
|
low complexity region
|
269 |
279 |
N/A |
INTRINSIC |
|
VWA
|
305 |
507 |
2.61e-12 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000077190
AA Change: T346A
|
| SMART Domains |
Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: T346A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
24 |
130 |
4.29e-6 |
SMART |
|
C2
|
144 |
275 |
1.94e1 |
SMART |
|
VWA
|
223 |
425 |
9.73e-12 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000213452
AA Change: T179A
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
T |
C |
15: 76,635,759 (GRCm39) |
T159A |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,822,226 (GRCm39) |
Y763C |
probably damaging |
Het |
| Arv1 |
T |
A |
8: 125,458,611 (GRCm39) |
F245Y |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,225,318 (GRCm39) |
I113T |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,279,787 (GRCm39) |
M932K |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,591,076 (GRCm39) |
F442L |
possibly damaging |
Het |
| Col28a1 |
C |
T |
6: 8,175,534 (GRCm39) |
D105N |
probably damaging |
Het |
| Cramp1 |
T |
A |
17: 25,202,151 (GRCm39) |
I444F |
probably damaging |
Het |
| Dhx32 |
T |
A |
7: 133,327,001 (GRCm39) |
K360M |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,799,602 (GRCm39) |
C669S |
possibly damaging |
Het |
| Dusp8 |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
7: 141,635,804 (GRCm39) |
|
probably benign |
Het |
| Eif3f |
G |
A |
7: 108,537,024 (GRCm39) |
|
probably null |
Het |
| Elmod1 |
T |
C |
9: 53,820,058 (GRCm39) |
D310G |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,625,373 (GRCm39) |
*2272Q |
probably null |
Het |
| Gnat1 |
A |
G |
9: 107,554,638 (GRCm39) |
S76P |
probably damaging |
Het |
| Gtf2f2 |
T |
C |
14: 76,232,885 (GRCm39) |
T94A |
probably benign |
Het |
| Hacd4 |
A |
T |
4: 88,341,264 (GRCm39) |
W152R |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,110,512 (GRCm39) |
Y241C |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,639,793 (GRCm39) |
I753T |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,156,072 (GRCm39) |
H1162Y |
probably damaging |
Het |
| Med25 |
C |
T |
7: 44,529,804 (GRCm39) |
A485T |
probably benign |
Het |
| Mup5 |
A |
T |
4: 61,750,871 (GRCm39) |
S145R |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,468,987 (GRCm39) |
V105A |
probably damaging |
Het |
| Npc2 |
A |
G |
12: 84,807,492 (GRCm39) |
|
probably null |
Het |
| Or52h1 |
A |
G |
7: 103,829,498 (GRCm39) |
I39T |
probably benign |
Het |
| Or6p1 |
A |
G |
1: 174,258,419 (GRCm39) |
T142A |
probably benign |
Het |
| Otulinl |
T |
C |
15: 27,664,635 (GRCm39) |
R79G |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,371,725 (GRCm39) |
S2557P |
probably damaging |
Het |
| Pop1 |
T |
C |
15: 34,509,955 (GRCm39) |
V353A |
probably benign |
Het |
| Pou3f2 |
A |
G |
4: 22,487,536 (GRCm39) |
V199A |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,766,361 (GRCm39) |
E15G |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,349,313 (GRCm39) |
N43K |
probably damaging |
Het |
| Qrsl1 |
C |
T |
10: 43,758,077 (GRCm39) |
D339N |
probably damaging |
Het |
| Rpl13-ps3 |
C |
A |
14: 59,131,394 (GRCm39) |
|
noncoding transcript |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sdr16c6 |
A |
G |
4: 4,069,908 (GRCm39) |
V144A |
probably damaging |
Het |
| Spata31d1b |
C |
A |
13: 59,865,332 (GRCm39) |
H827N |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,856,432 (GRCm39) |
V690A |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,954,530 (GRCm39) |
H535Q |
probably benign |
Het |
| Timmdc1 |
A |
G |
16: 38,342,790 (GRCm39) |
V36A |
probably benign |
Het |
| Tmem74b |
C |
T |
2: 151,548,339 (GRCm39) |
A22V |
probably benign |
Het |
| Txnrd3 |
T |
A |
6: 89,627,543 (GRCm39) |
Y65* |
probably null |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,624 (GRCm39) |
S133R |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,567,190 (GRCm39) |
C311Y |
probably damaging |
Het |
| Wipf2 |
G |
A |
11: 98,787,141 (GRCm39) |
R390H |
possibly damaging |
Het |
| Zfp282 |
T |
A |
6: 47,881,533 (GRCm39) |
S407T |
probably benign |
Het |
|
| Other mutations in Cpne4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01650:Cpne4
|
APN |
9 |
104,778,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01871:Cpne4
|
APN |
9 |
104,802,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02097:Cpne4
|
APN |
9 |
104,563,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02698:Cpne4
|
APN |
9 |
104,909,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02933:Cpne4
|
APN |
9 |
104,896,966 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0471:Cpne4
|
UTSW |
9 |
104,899,481 (GRCm39) |
splice site |
probably null |
|
|
R0528:Cpne4
|
UTSW |
9 |
104,563,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0698:Cpne4
|
UTSW |
9 |
104,802,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1025:Cpne4
|
UTSW |
9 |
104,871,057 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1300:Cpne4
|
UTSW |
9 |
104,870,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Cpne4
|
UTSW |
9 |
104,777,484 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1439:Cpne4
|
UTSW |
9 |
104,866,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1634:Cpne4
|
UTSW |
9 |
104,866,778 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1777:Cpne4
|
UTSW |
9 |
104,749,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2992:Cpne4
|
UTSW |
9 |
104,899,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Cpne4
|
UTSW |
9 |
104,563,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Cpne4
|
UTSW |
9 |
104,799,755 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4943:Cpne4
|
UTSW |
9 |
104,896,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Cpne4
|
UTSW |
9 |
104,778,720 (GRCm39) |
splice site |
probably null |
|
|
R5787:Cpne4
|
UTSW |
9 |
104,899,600 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5839:Cpne4
|
UTSW |
9 |
104,803,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Cpne4
|
UTSW |
9 |
104,802,969 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7386:Cpne4
|
UTSW |
9 |
104,749,939 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7849:Cpne4
|
UTSW |
9 |
104,563,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7887:Cpne4
|
UTSW |
9 |
104,909,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Cpne4
|
UTSW |
9 |
104,799,706 (GRCm39) |
intron |
probably benign |
|
|
R9267:Cpne4
|
UTSW |
9 |
104,884,833 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9368:Cpne4
|
UTSW |
9 |
104,563,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9407:Cpne4
|
UTSW |
9 |
104,749,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACGGACCACGGAACTGTTG -3'
(R):5'- AGACCAGGAGTTGAGCCTTGTCAC -3'
Sequencing Primer
(F):5'- CCAAGCTCCAGCTTTATGGT -3'
(R):5'- CGCAGTGAACATAGTAGCTTCTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation