Incidental Mutation 'IGL01403:Ccdc78'
| ID |
79734 |
| 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 # |
IGL01403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26005554-26009487 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 26007218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002350]
[ENSMUST00000072735]
[ENSMUST00000077938]
[ENSMUST00000095500]
[ENSMUST00000133071]
[ENSMUST00000138759]
[ENSMUST00000140738]
[ENSMUST00000150324]
[ENSMUST00000145053]
|
| AlphaFold |
D3Z5T1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002350
|
| SMART Domains |
Protein: ENSMUSP00000002350
Gene: ENSMUSG00000002280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fe_hyd_lg_C
|
110 |
406 |
8.5e-95 |
PFAM |
|
Fe_hyd_SSU
|
410 |
466 |
9.56e-17 |
SMART |
|
| 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 |
probably null
Transcript: ENSMUST00000095500
|
| SMART Domains |
Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202
| 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: ENSMUST00000148986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143248
|
| 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: 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: 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 |
|---|
| Abcb5 |
A |
T |
12: 118,836,602 (GRCm39) |
L1103Q |
probably damaging |
Het |
| Adam12 |
T |
A |
7: 133,521,339 (GRCm39) |
Q605L |
probably benign |
Het |
| Adk |
A |
G |
14: 21,284,983 (GRCm39) |
K102R |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,124,132 (GRCm39) |
P1761S |
probably damaging |
Het |
| Ascc1 |
A |
G |
10: 59,848,280 (GRCm39) |
|
probably benign |
Het |
| Aspdh |
A |
G |
7: 44,115,983 (GRCm39) |
|
probably null |
Het |
| Bbx |
T |
C |
16: 50,022,876 (GRCm39) |
I753V |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,024,668 (GRCm39) |
Y186C |
probably damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,193,447 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,247,897 (GRCm39) |
T322A |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,155,460 (GRCm39) |
|
probably benign |
Het |
| Dr1 |
A |
G |
5: 108,417,576 (GRCm39) |
N41D |
possibly damaging |
Het |
| Ehmt1 |
G |
A |
2: 24,729,638 (GRCm39) |
T633I |
possibly damaging |
Het |
| Fgf7 |
T |
A |
2: 125,877,860 (GRCm39) |
Y76N |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,468,848 (GRCm39) |
W5038R |
probably damaging |
Het |
| Ighv14-1 |
A |
G |
12: 113,895,862 (GRCm39) |
V21A |
probably damaging |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,420 (GRCm39) |
I75F |
probably damaging |
Het |
| Inhbc |
T |
A |
10: 127,205,968 (GRCm39) |
I100F |
probably damaging |
Het |
| Irs3 |
A |
G |
5: 137,643,581 (GRCm39) |
F68L |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,337,569 (GRCm39) |
C2460S |
probably damaging |
Het |
| Krt34 |
A |
G |
11: 99,929,116 (GRCm39) |
C365R |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,030,497 (GRCm39) |
N82S |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,297,404 (GRCm39) |
I72F |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,778,846 (GRCm39) |
R1534H |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,466,429 (GRCm39) |
F239L |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,042,722 (GRCm39) |
|
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,860,635 (GRCm39) |
V427A |
probably benign |
Het |
| Or52b1 |
G |
A |
7: 104,978,605 (GRCm39) |
R265C |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,828 (GRCm39) |
T75A |
possibly damaging |
Het |
| Pde4a |
A |
T |
9: 21,116,412 (GRCm39) |
I467F |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,347,229 (GRCm39) |
C198* |
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,254,632 (GRCm39) |
V1312A |
probably damaging |
Het |
| Pola2 |
T |
C |
19: 6,009,121 (GRCm39) |
H79R |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,059,515 (GRCm39) |
|
probably benign |
Het |
| Pramel15 |
A |
T |
4: 144,103,703 (GRCm39) |
M141K |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,062,548 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,334,126 (GRCm39) |
K3112E |
probably damaging |
Het |
| Slc6a4 |
G |
T |
11: 76,922,498 (GRCm39) |
V630L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,757,355 (GRCm39) |
|
probably benign |
Het |
| Tmc8 |
A |
G |
11: 117,681,900 (GRCm39) |
T510A |
possibly damaging |
Het |
| Usp18 |
T |
A |
6: 121,245,627 (GRCm39) |
H334Q |
possibly damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,229 (GRCm39) |
Y117H |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,625 (GRCm39) |
D1857E |
probably benign |
Het |
|
| Other mutations in Ccdc78 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01013:Ccdc78
|
APN |
17 |
26,008,028 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01060:Ccdc78
|
APN |
17 |
26,007,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-05 |
Incidental Mutation