Incidental Mutation 'IGL03113:Ccdc175'
ID |
419263 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc175
|
Ensembl Gene |
ENSMUSG00000021086 |
Gene Name |
coiled-coil domain containing 175 |
Synonyms |
4930403N07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
IGL03113
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
72148074-72231803 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 72191557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 340
(V340L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021494]
|
AlphaFold |
E9PVB3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021494
AA Change: V340L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021494 Gene: ENSMUSG00000021086 AA Change: V340L
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apof |
G |
A |
10: 128,105,568 (GRCm39) |
V241M |
probably benign |
Het |
Arhgef10 |
T |
A |
8: 15,004,505 (GRCm39) |
I91N |
probably damaging |
Het |
Arhgef17 |
G |
A |
7: 100,578,938 (GRCm39) |
T670I |
probably benign |
Het |
Barhl1 |
T |
C |
2: 28,805,468 (GRCm39) |
D75G |
probably benign |
Het |
Capn13 |
T |
C |
17: 73,638,108 (GRCm39) |
T432A |
probably benign |
Het |
Casd1 |
T |
A |
6: 4,640,951 (GRCm39) |
Y691N |
probably damaging |
Het |
Cdc5l |
A |
T |
17: 45,744,348 (GRCm39) |
M5K |
possibly damaging |
Het |
Cgn |
A |
G |
3: 94,686,544 (GRCm39) |
F253L |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,078,712 (GRCm39) |
K2003R |
probably benign |
Het |
Disp2 |
T |
A |
2: 118,621,259 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
C |
1: 53,472,163 (GRCm39) |
N3535D |
possibly damaging |
Het |
Exoc3 |
G |
A |
13: 74,341,232 (GRCm39) |
Q191* |
probably null |
Het |
Fstl5 |
T |
A |
3: 76,337,099 (GRCm39) |
Y219* |
probably null |
Het |
Gad2 |
T |
A |
2: 22,571,367 (GRCm39) |
L435Q |
probably benign |
Het |
Gcnt3 |
A |
G |
9: 69,941,983 (GRCm39) |
V195A |
probably damaging |
Het |
Haus6 |
G |
A |
4: 86,501,343 (GRCm39) |
Q843* |
probably null |
Het |
Hivep2 |
T |
A |
10: 14,006,395 (GRCm39) |
F998I |
probably damaging |
Het |
Hsf5 |
A |
T |
11: 87,548,190 (GRCm39) |
E624D |
probably benign |
Het |
Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
Klhl6 |
T |
A |
16: 19,776,001 (GRCm39) |
S186C |
possibly damaging |
Het |
Klk15 |
T |
C |
7: 43,587,805 (GRCm39) |
F78L |
probably benign |
Het |
Ldlr |
A |
G |
9: 21,651,124 (GRCm39) |
E514G |
possibly damaging |
Het |
Map9 |
T |
A |
3: 82,267,285 (GRCm39) |
|
probably benign |
Het |
Miga2 |
A |
T |
2: 30,274,022 (GRCm39) |
I99F |
possibly damaging |
Het |
Morc4 |
T |
C |
X: 138,758,605 (GRCm39) |
E189G |
probably benign |
Het |
Nhlrc3 |
A |
T |
3: 53,365,984 (GRCm39) |
Y170N |
possibly damaging |
Het |
Or3a1b |
G |
A |
11: 74,012,529 (GRCm39) |
R138Q |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,844,379 (GRCm39) |
F10L |
probably damaging |
Het |
Or51b6b |
A |
T |
7: 103,309,851 (GRCm39) |
V202D |
possibly damaging |
Het |
Or52u1 |
A |
T |
7: 104,237,940 (GRCm39) |
R310W |
probably benign |
Het |
Or5o1 |
T |
A |
X: 48,815,939 (GRCm39) |
N291Y |
probably damaging |
Het |
Or5w15 |
T |
C |
2: 87,568,506 (GRCm39) |
Q54R |
probably benign |
Het |
Or8g32 |
A |
C |
9: 39,305,981 (GRCm39) |
K295T |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,784,793 (GRCm39) |
T1997I |
probably benign |
Het |
Poln |
A |
G |
5: 34,274,206 (GRCm39) |
S377P |
probably benign |
Het |
Rab22a |
T |
A |
2: 173,503,265 (GRCm39) |
V26E |
probably damaging |
Het |
Rhbdl3 |
T |
C |
11: 80,244,439 (GRCm39) |
V382A |
possibly damaging |
Het |
Slitrk3 |
G |
T |
3: 72,957,723 (GRCm39) |
Q350K |
probably benign |
Het |
Sult1d1 |
A |
T |
5: 87,707,738 (GRCm39) |
Y127* |
probably null |
Het |
Vmn1r73 |
A |
T |
7: 11,490,527 (GRCm39) |
Y115F |
probably benign |
Het |
Zfp128 |
T |
A |
7: 12,624,314 (GRCm39) |
D227E |
probably benign |
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 |
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 |
R1166:Ccdc175
|
UTSW |
12 |
72,152,706 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2016-08-02 |