Incidental Mutation 'R1166:Ccdc175'
ID |
101038 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc175
|
Ensembl Gene |
ENSMUSG00000021086 |
Gene Name |
coiled-coil domain containing 175 |
Synonyms |
4930403N07Rik |
MMRRC Submission |
039239-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R1166 (G1)
|
Quality Score |
215 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
72148074-72231803 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 72152706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 733
(K733T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021494]
[ENSMUST00000117449]
|
AlphaFold |
E9PVB3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021494
AA Change: K733T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021494 Gene: ENSMUSG00000021086 AA Change: K733T
Domain | Start | End | E-Value | Type |
coiled coil region
|
129 |
164 |
N/A |
INTRINSIC |
coiled coil region
|
205 |
235 |
N/A |
INTRINSIC |
coiled coil region
|
295 |
383 |
N/A |
INTRINSIC |
low complexity region
|
470 |
490 |
N/A |
INTRINSIC |
coiled coil region
|
517 |
537 |
N/A |
INTRINSIC |
low complexity region
|
803 |
819 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117449
|
SMART Domains |
Protein: ENSMUSP00000113744 Gene: ENSMUSG00000005078
Domain | Start | End | E-Value | Type |
Pfam:DUF766
|
3 |
295 |
2.3e-145 |
PFAM |
|
Meta Mutation Damage Score |
0.2167 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.0%
- 20x: 86.3%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,547,880 (GRCm39) |
K286R |
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,302,581 (GRCm39) |
|
probably benign |
Het |
Cenpn |
T |
G |
8: 117,652,946 (GRCm39) |
I39R |
probably damaging |
Het |
Cfap53 |
A |
T |
18: 74,433,251 (GRCm39) |
Y112F |
possibly damaging |
Het |
Cngb1 |
C |
A |
8: 95,986,809 (GRCm39) |
C361F |
probably damaging |
Het |
Ctf2 |
T |
C |
7: 127,318,685 (GRCm39) |
T105A |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,364,970 (GRCm39) |
T3584S |
probably damaging |
Het |
Ebf3 |
C |
T |
7: 136,914,896 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,514,265 (GRCm39) |
|
probably benign |
Het |
Fbxo17 |
T |
A |
7: 28,432,953 (GRCm39) |
V158E |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,436,066 (GRCm39) |
E322G |
probably benign |
Het |
Gm5698 |
G |
T |
1: 31,016,366 (GRCm39) |
D228E |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,059,277 (GRCm39) |
D248E |
probably benign |
Het |
Insm2 |
T |
C |
12: 55,647,281 (GRCm39) |
S342P |
probably benign |
Het |
Krt36 |
G |
A |
11: 99,993,654 (GRCm39) |
R395C |
probably benign |
Het |
Lrrc37 |
A |
G |
11: 103,506,209 (GRCm39) |
S1920P |
probably benign |
Het |
Lsm14b |
T |
A |
2: 179,673,334 (GRCm39) |
|
probably benign |
Het |
Map1a |
A |
G |
2: 121,130,741 (GRCm39) |
E519G |
probably damaging |
Het |
Mfsd14a |
T |
C |
3: 116,427,543 (GRCm39) |
|
probably benign |
Het |
Mfsd4b5 |
T |
C |
10: 39,846,419 (GRCm39) |
Y387C |
probably damaging |
Het |
Mybpc2 |
T |
C |
7: 44,154,449 (GRCm39) |
N1063D |
possibly damaging |
Het |
Nlrp10 |
T |
A |
7: 108,524,217 (GRCm39) |
H421L |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or4a81 |
A |
G |
2: 89,619,675 (GRCm39) |
V7A |
possibly damaging |
Het |
Pacrg |
A |
T |
17: 10,622,268 (GRCm39) |
Y235* |
probably null |
Het |
Pde4dip |
T |
A |
3: 97,620,512 (GRCm39) |
D1629V |
possibly damaging |
Het |
Prl8a2 |
G |
T |
13: 27,537,935 (GRCm39) |
S204I |
possibly damaging |
Het |
Sec24a |
A |
T |
11: 51,624,294 (GRCm39) |
M356K |
possibly damaging |
Het |
Sh3tc2 |
A |
C |
18: 62,124,247 (GRCm39) |
S972R |
probably damaging |
Het |
Shc2 |
C |
T |
10: 79,456,946 (GRCm39) |
V557M |
probably damaging |
Het |
Slc2a9 |
A |
G |
5: 38,539,384 (GRCm39) |
|
probably null |
Het |
Tcaf1 |
T |
C |
6: 42,655,612 (GRCm39) |
I455V |
probably benign |
Het |
Umodl1 |
T |
G |
17: 31,221,772 (GRCm39) |
|
probably benign |
Het |
Wdr27 |
T |
C |
17: 15,112,733 (GRCm39) |
T658A |
probably damaging |
Het |
Zfp318 |
T |
C |
17: 46,720,618 (GRCm39) |
Y1119H |
possibly damaging |
Het |
Zfp939 |
C |
A |
7: 39,122,763 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Ccdc175 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01524:Ccdc175
|
APN |
12 |
72,177,916 (GRCm39) |
splice site |
probably benign |
|
IGL01805:Ccdc175
|
APN |
12 |
72,176,003 (GRCm39) |
splice site |
probably benign |
|
IGL01807:Ccdc175
|
APN |
12 |
72,206,616 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01985:Ccdc175
|
APN |
12 |
72,175,052 (GRCm39) |
nonsense |
probably null |
|
IGL02719:Ccdc175
|
APN |
12 |
72,221,899 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02944:Ccdc175
|
APN |
12 |
72,164,667 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03113:Ccdc175
|
APN |
12 |
72,191,557 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03143:Ccdc175
|
APN |
12 |
72,182,832 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03356:Ccdc175
|
APN |
12 |
72,186,667 (GRCm39) |
splice site |
probably null |
|
R0009:Ccdc175
|
UTSW |
12 |
72,182,739 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0233:Ccdc175
|
UTSW |
12 |
72,152,650 (GRCm39) |
missense |
probably benign |
0.00 |
R0233:Ccdc175
|
UTSW |
12 |
72,152,650 (GRCm39) |
missense |
probably benign |
0.00 |
R0609:Ccdc175
|
UTSW |
12 |
72,204,281 (GRCm39) |
missense |
probably benign |
0.07 |
R0706:Ccdc175
|
UTSW |
12 |
72,186,722 (GRCm39) |
missense |
probably benign |
0.04 |
R0948:Ccdc175
|
UTSW |
12 |
72,177,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R1054:Ccdc175
|
UTSW |
12 |
72,225,318 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1481:Ccdc175
|
UTSW |
12 |
72,148,722 (GRCm39) |
unclassified |
probably benign |
|
R1860:Ccdc175
|
UTSW |
12 |
72,152,700 (GRCm39) |
missense |
probably benign |
|
R2077:Ccdc175
|
UTSW |
12 |
72,186,794 (GRCm39) |
missense |
possibly damaging |
0.54 |
R3806:Ccdc175
|
UTSW |
12 |
72,227,598 (GRCm39) |
missense |
possibly damaging |
0.72 |
R3879:Ccdc175
|
UTSW |
12 |
72,182,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R3887:Ccdc175
|
UTSW |
12 |
72,182,822 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4557:Ccdc175
|
UTSW |
12 |
72,175,080 (GRCm39) |
missense |
probably benign |
0.08 |
R4585:Ccdc175
|
UTSW |
12 |
72,221,953 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4686:Ccdc175
|
UTSW |
12 |
72,159,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R4766:Ccdc175
|
UTSW |
12 |
72,158,979 (GRCm39) |
missense |
probably benign |
0.00 |
R4773:Ccdc175
|
UTSW |
12 |
72,182,822 (GRCm39) |
missense |
probably damaging |
0.99 |
R4909:Ccdc175
|
UTSW |
12 |
72,206,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Ccdc175
|
UTSW |
12 |
72,227,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R5338:Ccdc175
|
UTSW |
12 |
72,231,745 (GRCm39) |
missense |
probably damaging |
0.99 |
R5539:Ccdc175
|
UTSW |
12 |
72,191,587 (GRCm39) |
missense |
probably benign |
0.00 |
R5897:Ccdc175
|
UTSW |
12 |
72,206,578 (GRCm39) |
missense |
probably benign |
0.06 |
R6128:Ccdc175
|
UTSW |
12 |
72,175,933 (GRCm39) |
missense |
probably benign |
0.07 |
R6520:Ccdc175
|
UTSW |
12 |
72,186,804 (GRCm39) |
missense |
probably damaging |
0.98 |
R6523:Ccdc175
|
UTSW |
12 |
72,191,565 (GRCm39) |
missense |
probably benign |
0.01 |
R6917:Ccdc175
|
UTSW |
12 |
72,231,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R7035:Ccdc175
|
UTSW |
12 |
72,202,419 (GRCm39) |
missense |
probably benign |
0.01 |
R7097:Ccdc175
|
UTSW |
12 |
72,175,183 (GRCm39) |
splice site |
probably null |
|
R7339:Ccdc175
|
UTSW |
12 |
72,182,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R7450:Ccdc175
|
UTSW |
12 |
72,202,447 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7481:Ccdc175
|
UTSW |
12 |
72,202,398 (GRCm39) |
missense |
probably benign |
0.00 |
R7676:Ccdc175
|
UTSW |
12 |
72,148,821 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8045:Ccdc175
|
UTSW |
12 |
72,202,676 (GRCm39) |
intron |
probably benign |
|
R8383:Ccdc175
|
UTSW |
12 |
72,155,952 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8470:Ccdc175
|
UTSW |
12 |
72,202,392 (GRCm39) |
missense |
probably damaging |
0.97 |
R9211:Ccdc175
|
UTSW |
12 |
72,153,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R9739:Ccdc175
|
UTSW |
12 |
72,186,792 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Ccdc175
|
UTSW |
12 |
72,175,153 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Ccdc175
|
UTSW |
12 |
72,159,082 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |