Incidental Mutation 'IGL01013:Ccdc78'
| ID |
54047 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc78
|
| Ensembl Gene |
ENSMUSG00000071202 |
| Gene Name |
coiled-coil domain containing 78 |
| Synonyms |
LOC381077, LOC381146 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26005554-26009487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26008028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 313
(E313G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072735]
[ENSMUST00000077938]
[ENSMUST00000095500]
[ENSMUST00000133071]
[ENSMUST00000150324]
[ENSMUST00000138759]
[ENSMUST00000140738]
[ENSMUST00000145053]
|
| AlphaFold |
D3Z5T1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072735
|
| SMART Domains |
Protein: ENSMUSP00000072518
Gene: ENSMUSG00000057411
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
SCOP:d1f3la_
|
65 |
141 |
2e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077938
|
| SMART Domains |
Protein: ENSMUSP00000077091
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
11 |
173 |
7.63e-25 |
SMART |
|
Pfam:HAGH_C
|
174 |
270 |
3.2e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095500
AA Change: E313G
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202
AA Change: E313G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4472
|
63 |
190 |
5.5e-23 |
PFAM |
|
coiled coil region
|
364 |
408 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129917
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133071
|
| SMART Domains |
Protein: ENSMUSP00000120885
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
1 |
125 |
1.34e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143248
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150324
|
| SMART Domains |
Protein: ENSMUSP00000119647
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
11 |
173 |
7.63e-25 |
SMART |
|
Pfam:HAGH_C
|
174 |
270 |
3.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138759
|
| SMART Domains |
Protein: ENSMUSP00000115538
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
1 |
125 |
1.34e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140738
|
| SMART Domains |
Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
11 |
173 |
7.63e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145053
|
| SMART Domains |
Protein: ENSMUSP00000114961
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lactamase_B
|
7 |
113 |
3.3e-16 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,034,053 (GRCm39) |
E499D |
possibly damaging |
Het |
| Abca1 |
A |
T |
4: 53,038,185 (GRCm39) |
L2059* |
probably null |
Het |
| Ankar |
T |
A |
1: 72,690,148 (GRCm39) |
I1228F |
possibly damaging |
Het |
| Appl1 |
A |
T |
14: 26,671,433 (GRCm39) |
Y340N |
possibly damaging |
Het |
| Atp8b4 |
C |
A |
2: 126,165,007 (GRCm39) |
R1103L |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,822,070 (GRCm39) |
V308A |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,457,335 (GRCm39) |
P1534L |
probably benign |
Het |
| Cep57l1 |
G |
A |
10: 41,616,865 (GRCm39) |
R141* |
probably null |
Het |
| Cpsf1 |
G |
A |
15: 76,483,497 (GRCm39) |
Q883* |
probably null |
Het |
| Crot |
A |
G |
5: 9,043,575 (GRCm39) |
Y16H |
probably benign |
Het |
| Cyld |
T |
G |
8: 89,468,990 (GRCm39) |
L587R |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,188,738 (GRCm39) |
|
probably null |
Het |
| Fam89b |
G |
T |
19: 5,779,397 (GRCm39) |
D53E |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,143,782 (GRCm39) |
M226V |
probably benign |
Het |
| Gm10722 |
A |
T |
9: 3,002,230 (GRCm39) |
Y184F |
probably damaging |
Het |
| Hp |
C |
A |
8: 110,305,653 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,245,600 (GRCm39) |
R1189L |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,310,987 (GRCm39) |
N620D |
possibly damaging |
Het |
| Jakmip3 |
A |
C |
7: 138,619,302 (GRCm39) |
E228A |
possibly damaging |
Het |
| Kpna3 |
A |
T |
14: 61,607,966 (GRCm39) |
I413K |
probably damaging |
Het |
| Letm1 |
A |
T |
5: 33,919,934 (GRCm39) |
C202S |
possibly damaging |
Het |
| Lmod2 |
C |
A |
6: 24,604,134 (GRCm39) |
Q370K |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,874,300 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
T |
A |
13: 113,134,119 (GRCm39) |
|
probably benign |
Het |
| Mme |
A |
G |
3: 63,235,281 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,333,236 (GRCm39) |
W1306R |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,980,716 (GRCm39) |
Q473K |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,234,333 (GRCm39) |
C719* |
probably null |
Het |
| Nsun7 |
T |
C |
5: 66,440,944 (GRCm39) |
I355T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,456,314 (GRCm39) |
L560P |
probably damaging |
Het |
| Parl |
C |
A |
16: 20,101,540 (GRCm39) |
A285S |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,843,848 (GRCm39) |
M4795L |
unknown |
Het |
| Polr2f |
A |
G |
15: 79,030,329 (GRCm39) |
Y56C |
probably damaging |
Het |
| Rasgrp2 |
A |
T |
19: 6,454,413 (GRCm39) |
H152L |
probably damaging |
Het |
| Rpl10l |
T |
C |
12: 66,331,001 (GRCm39) |
D44G |
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,780,212 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,074,392 (GRCm39) |
E1411K |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,515,891 (GRCm39) |
R3Q |
probably damaging |
Het |
| Tbc1d32 |
G |
T |
10: 56,078,055 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
T |
C |
19: 55,908,059 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
G |
T |
11: 117,612,855 (GRCm39) |
V498L |
probably benign |
Het |
| Tymp |
G |
A |
15: 89,260,513 (GRCm39) |
H102Y |
probably damaging |
Het |
| Wdr76 |
T |
C |
2: 121,365,978 (GRCm39) |
S492P |
probably benign |
Het |
| Zc3h12d |
T |
C |
10: 7,715,720 (GRCm39) |
I41T |
probably damaging |
Het |
|
| Other mutations in Ccdc78 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01060:Ccdc78
|
APN |
17 |
26,007,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01403:Ccdc78
|
APN |
17 |
26,007,218 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0201:Ccdc78
|
UTSW |
17 |
26,008,210 (GRCm39) |
unclassified |
probably benign |
|
|
R1521:Ccdc78
|
UTSW |
17 |
26,007,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1933:Ccdc78
|
UTSW |
17 |
26,006,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Ccdc78
|
UTSW |
17 |
26,007,674 (GRCm39) |
missense |
probably benign |
|
|
R4860:Ccdc78
|
UTSW |
17 |
26,007,674 (GRCm39) |
missense |
probably benign |
|
|
R5107:Ccdc78
|
UTSW |
17 |
26,006,454 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5195:Ccdc78
|
UTSW |
17 |
26,008,962 (GRCm39) |
splice site |
probably null |
|
|
R5587:Ccdc78
|
UTSW |
17 |
26,005,651 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6145:Ccdc78
|
UTSW |
17 |
26,008,039 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6392:Ccdc78
|
UTSW |
17 |
26,007,148 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7624:Ccdc78
|
UTSW |
17 |
26,006,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Ccdc78
|
UTSW |
17 |
26,009,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7956:Ccdc78
|
UTSW |
17 |
26,006,091 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8787:Ccdc78
|
UTSW |
17 |
26,006,807 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9772:Ccdc78
|
UTSW |
17 |
26,005,665 (GRCm39) |
nonsense |
probably null |
|
|
X0028:Ccdc78
|
UTSW |
17 |
26,008,829 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2013-06-28 |
Incidental Mutation