Incidental Mutation 'R6392:Ccdc78'
| ID |
515833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc78
|
| Ensembl Gene |
ENSMUSG00000071202 |
| Gene Name |
coiled-coil domain containing 78 |
| Synonyms |
LOC381077, LOC381146 |
| MMRRC Submission |
044541-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6392 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26005554-26009487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 26007148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Glutamic Acid
at position 213
(Q213E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002350]
[ENSMUST00000072735]
[ENSMUST00000077938]
[ENSMUST00000095500]
[ENSMUST00000133071]
[ENSMUST00000145053]
[ENSMUST00000150324]
[ENSMUST00000138759]
[ENSMUST00000140738]
|
| 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 damaging
Transcript: ENSMUST00000095500
AA Change: Q213E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202
AA Change: Q213E
| 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: ENSMUST00000143248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138100
|
| 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 |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000148986
|
| Meta Mutation Damage Score |
0.0926 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.1%
|
| Validation Efficiency |
96% (47/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
A |
T |
17: 45,825,526 (GRCm39) |
I330F |
probably damaging |
Het |
| Abcc9 |
A |
G |
6: 142,627,825 (GRCm39) |
S402P |
probably damaging |
Het |
| Ada |
A |
G |
2: 163,570,137 (GRCm39) |
L292P |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,038 (GRCm39) |
N395K |
probably benign |
Het |
| Adra1d |
T |
C |
2: 131,403,529 (GRCm39) |
D187G |
probably damaging |
Het |
| AI467606 |
C |
A |
7: 126,691,717 (GRCm39) |
Y97* |
probably null |
Het |
| Arid2 |
A |
G |
15: 96,259,483 (GRCm39) |
E245G |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,077,472 (GRCm39) |
D1045Y |
probably damaging |
Het |
| Ctcf |
T |
C |
8: 106,390,765 (GRCm39) |
V124A |
probably damaging |
Het |
| Cutc |
T |
C |
19: 43,748,489 (GRCm39) |
S129P |
possibly damaging |
Het |
| Dhx36 |
T |
C |
3: 62,401,790 (GRCm39) |
I308V |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,621,230 (GRCm39) |
V654A |
probably damaging |
Het |
| Esm1 |
G |
A |
13: 113,346,283 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
C |
T |
4: 134,091,945 (GRCm39) |
V303I |
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,094,630 (GRCm39) |
D387E |
probably damaging |
Het |
| Fbf1 |
T |
A |
11: 116,043,775 (GRCm39) |
|
probably null |
Het |
| Fbxl12 |
T |
C |
9: 20,550,472 (GRCm39) |
H84R |
probably damaging |
Het |
| Fbxo6 |
C |
T |
4: 148,230,462 (GRCm39) |
V267I |
probably benign |
Het |
| Helz |
G |
T |
11: 107,493,167 (GRCm39) |
A197S |
possibly damaging |
Het |
| Ikbke |
T |
C |
1: 131,202,883 (GRCm39) |
|
probably null |
Het |
| Kbtbd13 |
A |
G |
9: 65,297,619 (GRCm39) |
F439S |
possibly damaging |
Het |
| Kif7 |
G |
A |
7: 79,351,934 (GRCm39) |
R943W |
probably damaging |
Het |
| Lrp12 |
C |
T |
15: 39,735,415 (GRCm39) |
C839Y |
probably damaging |
Het |
| Matr3 |
A |
G |
18: 35,717,894 (GRCm39) |
D364G |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,434,875 (GRCm39) |
K624E |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,166,820 (GRCm39) |
S280P |
possibly damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,011 (GRCm39) |
Y221N |
probably damaging |
Het |
| Or52a33 |
A |
C |
7: 103,288,889 (GRCm39) |
C153G |
probably benign |
Het |
| Pira2 |
A |
T |
7: 3,846,901 (GRCm39) |
S214T |
possibly damaging |
Het |
| Prss3b |
T |
C |
6: 41,009,306 (GRCm39) |
Y176C |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,700,853 (GRCm39) |
I30F |
probably benign |
Het |
| Rnf144a |
T |
C |
12: 26,360,779 (GRCm39) |
I253V |
possibly damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,373,302 (GRCm39) |
L823Q |
possibly damaging |
Het |
| Sh3rf3 |
A |
T |
10: 58,842,898 (GRCm39) |
D288V |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,054,485 (GRCm39) |
Y1031* |
probably null |
Het |
| Sidt1 |
T |
C |
16: 44,111,657 (GRCm39) |
T173A |
possibly damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Ssh3 |
C |
T |
19: 4,315,399 (GRCm39) |
R309H |
probably benign |
Het |
| Tagap |
G |
T |
17: 8,152,893 (GRCm39) |
G693W |
probably damaging |
Het |
| Tango2 |
T |
A |
16: 18,119,403 (GRCm39) |
I143F |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,468,928 (GRCm39) |
H550R |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,920,423 (GRCm39) |
Q92H |
probably benign |
Het |
| Tnfrsf21 |
T |
C |
17: 43,327,979 (GRCm39) |
L31P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,730,487 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,926,268 (GRCm39) |
D493G |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,090,453 (GRCm39) |
G1411D |
possibly damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Zfc3h1 |
A |
T |
10: 115,237,653 (GRCm39) |
R477S |
probably damaging |
Het |
| Zfp87 |
C |
T |
13: 67,664,986 (GRCm39) |
R492K |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCTAAGCCAGCAGTTGC -3'
(R):5'- CCAGGACCACAGATTCCTTGTAAC -3'
Sequencing Primer
(F):5'- AGCAGTTGCAGGGAGCC -3'
(R):5'- TGTAACTGTCTGCCCAGCACAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation