Incidental Mutation 'IGL03356:Ccdc175'
| ID |
419967 |
| 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 # |
IGL03356
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
72148074-72231803 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 72186667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021494]
[ENSMUST00000021494]
|
| AlphaFold |
E9PVB3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021494
|
| SMART Domains |
Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
| 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 null
Transcript: ENSMUST00000021494
|
| SMART Domains |
Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
C |
15: 60,791,737 (GRCm39) |
M233R |
probably benign |
Het |
| Aadat |
T |
C |
8: 60,984,725 (GRCm39) |
M256T |
probably damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,410 (GRCm39) |
N889S |
probably benign |
Het |
| Camkk2 |
A |
T |
5: 122,881,937 (GRCm39) |
I235N |
probably damaging |
Het |
| Card6 |
C |
T |
15: 5,129,723 (GRCm39) |
A558T |
probably benign |
Het |
| Crot |
A |
G |
5: 9,038,295 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
A |
G |
19: 39,628,405 (GRCm39) |
S180P |
probably damaging |
Het |
| Ddx55 |
A |
G |
5: 124,692,816 (GRCm39) |
N81S |
possibly damaging |
Het |
| Dennd3 |
C |
T |
15: 73,440,482 (GRCm39) |
T1171M |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,543,093 (GRCm39) |
D2359G |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,953,069 (GRCm39) |
N248K |
probably benign |
Het |
| Ganc |
T |
C |
2: 120,265,769 (GRCm39) |
I439T |
probably benign |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,443 (GRCm39) |
I158T |
possibly damaging |
Het |
| Grm3 |
T |
C |
5: 9,562,206 (GRCm39) |
D548G |
possibly damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,514 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,966,217 (GRCm39) |
|
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 120,992,389 (GRCm39) |
E113G |
probably damaging |
Het |
| Hspa4 |
C |
A |
11: 53,160,627 (GRCm39) |
R483L |
probably damaging |
Het |
| Ik |
C |
A |
18: 36,889,657 (GRCm39) |
S490R |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,072,035 (GRCm39) |
V86M |
possibly damaging |
Het |
| Mfsd4b1 |
A |
C |
10: 39,878,827 (GRCm39) |
F357V |
probably damaging |
Het |
| Ndufa9 |
A |
G |
6: 126,821,813 (GRCm39) |
V54A |
possibly damaging |
Het |
| Nfe2l2 |
A |
G |
2: 75,509,544 (GRCm39) |
I92T |
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,043,908 (GRCm39) |
S75P |
probably damaging |
Het |
| Oca2 |
T |
G |
7: 56,185,716 (GRCm39) |
M814R |
probably benign |
Het |
| Phlpp2 |
A |
G |
8: 110,662,249 (GRCm39) |
T879A |
probably benign |
Het |
| Potefam3e |
A |
G |
8: 19,799,463 (GRCm39) |
I304V |
probably benign |
Het |
| Rpe65 |
A |
T |
3: 159,321,214 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Satb2 |
T |
C |
1: 56,930,333 (GRCm39) |
K230R |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,270,342 (GRCm39) |
T297A |
probably benign |
Het |
| Slpi |
T |
C |
2: 164,198,129 (GRCm39) |
T22A |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,784,280 (GRCm39) |
F286S |
probably damaging |
Het |
| Tektl1 |
A |
G |
10: 78,582,966 (GRCm39) |
C473R |
possibly damaging |
Het |
| Tigd2 |
T |
A |
6: 59,188,690 (GRCm39) |
I519K |
probably benign |
Het |
| Tyr |
G |
T |
7: 87,141,922 (GRCm39) |
L136I |
possibly damaging |
Het |
| Vmn1r34 |
A |
T |
6: 66,613,970 (GRCm39) |
M256K |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,194,517 (GRCm39) |
C1258* |
probably null |
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 |
|
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 |
Incidental Mutation