Incidental Mutation 'R5170:Ccdc170'
| ID |
397511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc170
|
| Ensembl Gene |
ENSMUSG00000019767 |
| Gene Name |
coiled-coil domain containing 170 |
| Synonyms |
Gm221, LOC237250 |
| MMRRC Submission |
042750-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
R5170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4464200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 60
(E60K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019901]
[ENSMUST00000138112]
[ENSMUST00000145465]
|
| AlphaFold |
D3YXL0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019901
AA Change: E108K
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: E108K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
40 |
160 |
N/A |
INTRINSIC |
|
coiled coil region
|
264 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
357 |
N/A |
INTRINSIC |
|
coiled coil region
|
379 |
415 |
N/A |
INTRINSIC |
|
coiled coil region
|
475 |
649 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
690 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138112
AA Change: E114K
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: E114K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
80 |
93 |
6.25e-5 |
PROSPERO |
|
internal_repeat_1
|
305 |
318 |
6.25e-5 |
PROSPERO |
|
low complexity region
|
351 |
363 |
N/A |
INTRINSIC |
|
coiled coil region
|
385 |
421 |
N/A |
INTRINSIC |
|
coiled coil region
|
481 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
696 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145465
AA Change: E60K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122673
Gene: ENSMUSG00000019767
AA Change: E60K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
6 |
96 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,745,969 (GRCm39) |
I51V |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,633,541 (GRCm39) |
K559R |
probably benign |
Het |
| Arhgap30 |
A |
G |
1: 171,235,618 (GRCm39) |
D664G |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,089,396 (GRCm39) |
V798A |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,167,302 (GRCm39) |
C2237* |
probably null |
Het |
| C3 |
C |
T |
17: 57,530,938 (GRCm39) |
V388M |
probably damaging |
Het |
| Cdh8 |
G |
A |
8: 100,006,182 (GRCm39) |
T135M |
probably damaging |
Het |
| Cep131 |
G |
T |
11: 119,961,435 (GRCm39) |
A572E |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,559,655 (GRCm39) |
Y976C |
probably benign |
Het |
| Cplx3 |
G |
A |
9: 57,522,902 (GRCm39) |
R153* |
probably null |
Het |
| Defa41 |
A |
T |
8: 21,691,696 (GRCm39) |
D26V |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,553,040 (GRCm39) |
I393V |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,748,520 (GRCm39) |
V305A |
probably benign |
Het |
| Fry |
G |
A |
5: 150,353,319 (GRCm39) |
V1779M |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,748,465 (GRCm39) |
|
probably null |
Het |
| Gucy2e |
A |
T |
11: 69,126,396 (GRCm39) |
L328Q |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,558,064 (GRCm39) |
T225A |
unknown |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,777,356 (GRCm39) |
M1L |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,619,745 (GRCm39) |
D1432G |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,963,380 (GRCm39) |
N988I |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,677,649 (GRCm39) |
E773G |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,761,636 (GRCm39) |
M146K |
probably damaging |
Het |
| Ptx4 |
G |
A |
17: 25,342,152 (GRCm39) |
R209Q |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,291,634 (GRCm39) |
T340A |
probably damaging |
Het |
| St8sia1 |
T |
C |
6: 142,909,434 (GRCm39) |
K21E |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,684,686 (GRCm39) |
D581G |
probably benign |
Het |
| Sumo2 |
G |
A |
11: 115,425,486 (GRCm39) |
|
probably benign |
Het |
| Supt5 |
G |
A |
7: 28,015,508 (GRCm39) |
P910S |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,743 (GRCm39) |
Q158R |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,915,633 (GRCm39) |
H1968L |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,421,861 (GRCm39) |
Y220H |
probably damaging |
Het |
| Trp73 |
C |
T |
4: 154,189,295 (GRCm39) |
E60K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,617,413 (GRCm39) |
Y8026H |
probably damaging |
Het |
| Zar1l |
A |
G |
5: 150,441,050 (GRCm39) |
|
probably null |
Het |
| Zfp740 |
T |
C |
15: 102,117,640 (GRCm39) |
Y117H |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,870 (GRCm39) |
|
probably benign |
Het |
| Zp1 |
C |
A |
19: 10,897,918 (GRCm39) |
V8F |
possibly damaging |
Het |
|
| Other mutations in Ccdc170 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Ccdc170
|
APN |
10 |
4,496,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01018:Ccdc170
|
APN |
10 |
4,464,114 (GRCm39) |
missense |
probably benign |
|
|
IGL01018:Ccdc170
|
APN |
10 |
4,462,788 (GRCm39) |
missense |
probably benign |
|
|
IGL01018:Ccdc170
|
APN |
10 |
4,464,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01114:Ccdc170
|
APN |
10 |
4,508,550 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01377:Ccdc170
|
APN |
10 |
4,510,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01726:Ccdc170
|
APN |
10 |
4,499,713 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02110:Ccdc170
|
APN |
10 |
4,491,885 (GRCm39) |
splice site |
probably null |
|
|
FR4304:Ccdc170
|
UTSW |
10 |
4,511,021 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Ccdc170
|
UTSW |
10 |
4,511,026 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Ccdc170
|
UTSW |
10 |
4,511,029 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Ccdc170
|
UTSW |
10 |
4,511,023 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Ccdc170
|
UTSW |
10 |
4,511,029 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Ccdc170
|
UTSW |
10 |
4,511,008 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Ccdc170
|
UTSW |
10 |
4,511,023 (GRCm39) |
small insertion |
probably benign |
|
|
R0137:Ccdc170
|
UTSW |
10 |
4,496,950 (GRCm39) |
splice site |
probably benign |
|
|
R0280:Ccdc170
|
UTSW |
10 |
4,508,663 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0480:Ccdc170
|
UTSW |
10 |
4,468,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1786:Ccdc170
|
UTSW |
10 |
4,469,043 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2383:Ccdc170
|
UTSW |
10 |
4,484,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3031:Ccdc170
|
UTSW |
10 |
4,468,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3797:Ccdc170
|
UTSW |
10 |
4,510,920 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4494:Ccdc170
|
UTSW |
10 |
4,464,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Ccdc170
|
UTSW |
10 |
4,468,971 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5152:Ccdc170
|
UTSW |
10 |
4,511,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Ccdc170
|
UTSW |
10 |
4,484,188 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5911:Ccdc170
|
UTSW |
10 |
4,508,551 (GRCm39) |
nonsense |
probably null |
|
|
R5983:Ccdc170
|
UTSW |
10 |
4,470,851 (GRCm39) |
nonsense |
probably null |
|
|
R6374:Ccdc170
|
UTSW |
10 |
4,499,746 (GRCm39) |
nonsense |
probably null |
|
|
R6645:Ccdc170
|
UTSW |
10 |
4,510,974 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6818:Ccdc170
|
UTSW |
10 |
4,491,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6888:Ccdc170
|
UTSW |
10 |
4,496,854 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7032:Ccdc170
|
UTSW |
10 |
4,432,597 (GRCm39) |
missense |
unknown |
|
|
R7206:Ccdc170
|
UTSW |
10 |
4,464,120 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7393:Ccdc170
|
UTSW |
10 |
4,464,314 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7438:Ccdc170
|
UTSW |
10 |
4,508,512 (GRCm39) |
nonsense |
probably null |
|
|
R7471:Ccdc170
|
UTSW |
10 |
4,470,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7514:Ccdc170
|
UTSW |
10 |
4,496,839 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7818:Ccdc170
|
UTSW |
10 |
4,499,603 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8942:Ccdc170
|
UTSW |
10 |
4,484,044 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9069:Ccdc170
|
UTSW |
10 |
4,511,016 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9355:Ccdc170
|
UTSW |
10 |
4,508,695 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9790:Ccdc170
|
UTSW |
10 |
4,483,957 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9791:Ccdc170
|
UTSW |
10 |
4,483,957 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
RF006:Ccdc170
|
UTSW |
10 |
4,511,030 (GRCm39) |
small insertion |
probably benign |
|
|
RF009:Ccdc170
|
UTSW |
10 |
4,511,030 (GRCm39) |
small insertion |
probably benign |
|
|
RF011:Ccdc170
|
UTSW |
10 |
4,511,018 (GRCm39) |
small insertion |
probably benign |
|
|
RF017:Ccdc170
|
UTSW |
10 |
4,511,024 (GRCm39) |
small insertion |
probably benign |
|
|
RF023:Ccdc170
|
UTSW |
10 |
4,511,018 (GRCm39) |
small insertion |
probably benign |
|
|
RF024:Ccdc170
|
UTSW |
10 |
4,511,024 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Ccdc170
|
UTSW |
10 |
4,511,026 (GRCm39) |
small insertion |
probably benign |
|
|
RF027:Ccdc170
|
UTSW |
10 |
4,511,026 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Ccdc170
|
UTSW |
10 |
4,511,026 (GRCm39) |
small insertion |
probably benign |
|
|
RF050:Ccdc170
|
UTSW |
10 |
4,511,008 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Ccdc170
|
UTSW |
10 |
4,511,025 (GRCm39) |
small insertion |
probably benign |
|
|
Z1177:Ccdc170
|
UTSW |
10 |
4,459,884 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGGCCCTTCCAACAGCATAC -3'
(R):5'- ATCACTCAAGATGTAGGCTGAG -3'
Sequencing Primer
(F):5'- GCATACACATTGTTAAATCCCTTTG -3'
(R):5'- CACTCAAGATGTAGGCTGAGCTCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation