Incidental Mutation 'R1317:Ccdc7b'
| ID |
157571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc7b
|
| Ensembl Gene |
ENSMUSG00000056018 |
| Gene Name |
coiled-coil domain containing 7B |
| Synonyms |
1700008F21Rik |
| MMRRC Submission |
039383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R1317 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129793615-129910213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129863127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 223
(H223L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026912]
[ENSMUST00000108743]
[ENSMUST00000108745]
[ENSMUST00000140887]
[ENSMUST00000148234]
|
| AlphaFold |
E9Q9Y3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026912
AA Change: H223L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000026912
Gene: ENSMUSG00000056018
AA Change: H223L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BioT2
|
1 |
93 |
1.7e-36 |
PFAM |
|
coiled coil region
|
225 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108744
|
| SMART Domains |
Protein: ENSMUSP00000104377
Gene: ENSMUSG00000056018
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108745
AA Change: H20L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000104378
Gene: ENSMUSG00000056018
AA Change: H20L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140887
|
| SMART Domains |
Protein: ENSMUSP00000119034
Gene: ENSMUSG00000056018
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BioT2
|
1 |
153 |
1.3e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148234
|
| SMART Domains |
Protein: ENSMUSP00000118197
Gene: ENSMUSG00000056018
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BioT2
|
1 |
153 |
1.3e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148621
|
| SMART Domains |
Protein: ENSMUSP00000117707
Gene: ENSMUSG00000056018
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
43 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.9%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,066,535 (GRCm39) |
T576A |
probably benign |
Het |
| Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cryba2 |
G |
T |
1: 74,929,835 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
T |
C |
3: 159,228,924 (GRCm39) |
C559R |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
| Gm5519 |
T |
C |
19: 33,802,391 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
| Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
| Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
| Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
A |
G |
1: 173,465,029 (GRCm39) |
D53G |
possibly damaging |
Het |
| Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
| Jag2 |
T |
A |
12: 112,878,121 (GRCm39) |
M537L |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mt1 |
T |
C |
8: 94,906,781 (GRCm39) |
|
probably benign |
Het |
| Myo15b |
C |
A |
11: 115,774,460 (GRCm39) |
P2024Q |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,181,256 (GRCm39) |
|
probably benign |
Het |
| Rbm27 |
G |
A |
18: 42,457,116 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Scg3 |
G |
A |
9: 75,576,622 (GRCm39) |
T251M |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,360,888 (GRCm39) |
K179E |
possibly damaging |
Het |
| Smad5 |
T |
C |
13: 56,883,884 (GRCm39) |
|
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,778,179 (GRCm39) |
V87A |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,571,328 (GRCm39) |
M159V |
probably benign |
Het |
| Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
| Zbtb1 |
A |
G |
12: 76,433,573 (GRCm39) |
S520G |
probably benign |
Het |
| Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
Het |
|
| Other mutations in Ccdc7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Ccdc7b
|
APN |
8 |
129,904,838 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01751:Ccdc7b
|
APN |
8 |
129,863,049 (GRCm39) |
splice site |
probably benign |
|
|
IGL02529:Ccdc7b
|
APN |
8 |
129,904,706 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02596:Ccdc7b
|
APN |
8 |
129,798,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0107:Ccdc7b
|
UTSW |
8 |
129,904,678 (GRCm39) |
splice site |
probably benign |
|
|
R0628:Ccdc7b
|
UTSW |
8 |
129,837,498 (GRCm39) |
intron |
probably benign |
|
|
R0709:Ccdc7b
|
UTSW |
8 |
129,863,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1594:Ccdc7b
|
UTSW |
8 |
129,904,838 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2290:Ccdc7b
|
UTSW |
8 |
129,857,587 (GRCm39) |
splice site |
probably benign |
|
|
R4112:Ccdc7b
|
UTSW |
8 |
129,811,708 (GRCm39) |
start gained |
probably benign |
|
|
R4585:Ccdc7b
|
UTSW |
8 |
129,837,401 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4586:Ccdc7b
|
UTSW |
8 |
129,837,401 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4747:Ccdc7b
|
UTSW |
8 |
129,904,716 (GRCm39) |
missense |
probably benign |
|
|
R4978:Ccdc7b
|
UTSW |
8 |
129,836,688 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4988:Ccdc7b
|
UTSW |
8 |
129,872,013 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5470:Ccdc7b
|
UTSW |
8 |
129,799,081 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5732:Ccdc7b
|
UTSW |
8 |
129,799,195 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6590:Ccdc7b
|
UTSW |
8 |
129,904,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6599:Ccdc7b
|
UTSW |
8 |
129,893,462 (GRCm39) |
missense |
probably benign |
|
|
R6690:Ccdc7b
|
UTSW |
8 |
129,904,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6881:Ccdc7b
|
UTSW |
8 |
129,799,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Ccdc7b
|
UTSW |
8 |
129,811,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7728:Ccdc7b
|
UTSW |
8 |
129,799,171 (GRCm39) |
missense |
unknown |
|
|
R7891:Ccdc7b
|
UTSW |
8 |
129,799,146 (GRCm39) |
missense |
unknown |
|
|
R8213:Ccdc7b
|
UTSW |
8 |
129,904,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8708:Ccdc7b
|
UTSW |
8 |
129,863,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8836:Ccdc7b
|
UTSW |
8 |
129,857,512 (GRCm39) |
splice site |
probably benign |
|
|
R8847:Ccdc7b
|
UTSW |
8 |
129,872,082 (GRCm39) |
missense |
|
|
|
R9272:Ccdc7b
|
UTSW |
8 |
129,893,459 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9287:Ccdc7b
|
UTSW |
8 |
129,890,321 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9478:Ccdc7b
|
UTSW |
8 |
129,837,473 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2014-02-18 |
Incidental Mutation