Incidental Mutation 'R6645:Ccdc170'
| ID |
526077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc170
|
| Ensembl Gene |
ENSMUSG00000019767 |
| Gene Name |
coiled-coil domain containing 170 |
| Synonyms |
Gm221, LOC237250 |
| MMRRC Submission |
044766-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
R6645 (G1)
|
| Quality Score |
94.0077 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4510974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 678
(I678V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019901]
[ENSMUST00000138112]
|
| AlphaFold |
D3YXL0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019901
AA Change: I672V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: I672V
| 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: I678V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: I678V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anp32e |
T |
A |
3: 95,844,414 (GRCm39) |
F95I |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,057,318 (GRCm39) |
K628R |
possibly damaging |
Het |
| Arid4b |
A |
T |
13: 14,294,737 (GRCm39) |
E6D |
probably damaging |
Het |
| Atxn10 |
G |
T |
15: 85,260,904 (GRCm39) |
|
probably null |
Het |
| Ccdc18 |
T |
A |
5: 108,286,796 (GRCm39) |
V110D |
probably benign |
Het |
| Cep85l |
C |
T |
10: 53,177,768 (GRCm39) |
E322K |
probably benign |
Het |
| Cilp |
A |
T |
9: 65,186,587 (GRCm39) |
Y894F |
possibly damaging |
Het |
| Ddx4 |
A |
G |
13: 112,777,708 (GRCm39) |
S62P |
possibly damaging |
Het |
| Dph7 |
T |
C |
2: 24,855,663 (GRCm39) |
V154A |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,594,206 (GRCm39) |
S579P |
probably benign |
Het |
| Fam53a |
G |
T |
5: 33,758,128 (GRCm39) |
Q332K |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,874 (GRCm39) |
D1110G |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,442,442 (GRCm39) |
V136E |
possibly damaging |
Het |
| Greb1 |
G |
T |
12: 16,748,580 (GRCm39) |
H1132Q |
probably benign |
Het |
| Jph1 |
A |
G |
1: 17,161,985 (GRCm39) |
S226P |
probably damaging |
Het |
| Kbtbd8 |
C |
T |
6: 95,103,730 (GRCm39) |
R460* |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,821,463 (GRCm39) |
N3059Y |
probably damaging |
Het |
| Lipc |
G |
A |
9: 70,711,030 (GRCm39) |
T289I |
probably damaging |
Het |
| Lrrc2 |
T |
C |
9: 110,799,175 (GRCm39) |
W241R |
probably damaging |
Het |
| Mfn2 |
T |
A |
4: 147,979,069 (GRCm39) |
I88F |
probably damaging |
Het |
| Mms19 |
G |
C |
19: 41,943,630 (GRCm39) |
N366K |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,368,118 (GRCm39) |
T293A |
probably benign |
Het |
| Ndfip2 |
T |
A |
14: 105,529,707 (GRCm39) |
Y179N |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,806,790 (GRCm39) |
D1909G |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,976,088 (GRCm39) |
S2013N |
probably damaging |
Het |
| Oca2 |
G |
T |
7: 55,964,522 (GRCm39) |
A357S |
probably benign |
Het |
| Or8b43 |
T |
C |
9: 38,360,219 (GRCm39) |
L17S |
probably damaging |
Het |
| Or8g35 |
T |
A |
9: 39,381,562 (GRCm39) |
L153F |
probably benign |
Het |
| Pde7b |
C |
A |
10: 20,486,312 (GRCm39) |
|
probably null |
Het |
| Ppef2 |
T |
C |
5: 92,378,320 (GRCm39) |
N625S |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,204,856 (GRCm39) |
L192Q |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,836,166 (GRCm39) |
I542V |
possibly damaging |
Het |
| Sgpp2 |
C |
T |
1: 78,336,799 (GRCm39) |
T59M |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,749,235 (GRCm39) |
T782A |
possibly damaging |
Het |
| Slc13a4 |
G |
T |
6: 35,245,774 (GRCm39) |
Q624K |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,312,291 (GRCm39) |
H629Q |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,194 (GRCm39) |
A526E |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,198 (GRCm39) |
D994V |
probably benign |
Het |
| Sptssa |
T |
C |
12: 54,693,275 (GRCm39) |
Y53C |
probably damaging |
Het |
| Srsf10 |
T |
C |
4: 135,590,874 (GRCm39) |
S159P |
possibly damaging |
Het |
| Tbce |
T |
C |
13: 14,179,814 (GRCm39) |
T341A |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,935,423 (GRCm39) |
L1875P |
probably benign |
Het |
| Tkt |
G |
A |
14: 30,292,168 (GRCm39) |
G425R |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,511,326 (GRCm39) |
I17M |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,066,721 (GRCm39) |
S311G |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,029,750 (GRCm39) |
Y492H |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,255,528 (GRCm39) |
I1535T |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,576,247 (GRCm39) |
N373Y |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,464,297 (GRCm39) |
V179E |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,910,451 (GRCm39) |
E3405G |
probably benign |
Het |
| Wac |
A |
T |
18: 7,973,523 (GRCm39) |
Q212H |
probably damaging |
Het |
| Washc4 |
C |
T |
10: 83,408,059 (GRCm39) |
R555* |
probably null |
Het |
| Zmat4 |
G |
A |
8: 24,287,417 (GRCm39) |
|
probably null |
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 |
|
R5170:Ccdc170
|
UTSW |
10 |
4,464,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- GTGGGTCATTTGCCTACCTC -3'
(R):5'- GCACAACTGGAGAATCGTACCC -3'
Sequencing Primer
(F):5'- CTCATGCAAATCTAAGGGTTCC -3'
(R):5'- TGGAGAATCGTACCCCCTCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation