Incidental Mutation 'IGL01985:Ccdc175'
| ID |
181851 |
| 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: 0.052)
|
| Stock # |
IGL01985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
72148074-72231803 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 72175052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 540
(Y540*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021494]
|
| AlphaFold |
E9PVB3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021494
AA Change: Y540*
|
| SMART Domains |
Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
AA Change: Y540*
| 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 |
noncoding transcript
Transcript: ENSMUST00000179978
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
G |
A |
4: 144,442,024 (GRCm39) |
Q76* |
probably null |
Het |
| Cass4 |
A |
C |
2: 172,269,126 (GRCm39) |
S403R |
probably damaging |
Het |
| Cep164 |
C |
T |
9: 45,690,904 (GRCm39) |
E1266K |
probably damaging |
Het |
| Clec12b |
T |
A |
6: 129,359,334 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,814,482 (GRCm39) |
K510R |
unknown |
Het |
| Crisp4 |
G |
A |
1: 18,204,289 (GRCm39) |
P101S |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,884,074 (GRCm39) |
L614P |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,603,303 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,911,614 (GRCm39) |
F589L |
probably benign |
Het |
| Dvl2 |
T |
A |
11: 69,899,119 (GRCm39) |
V459E |
probably damaging |
Het |
| E2f6 |
T |
C |
12: 16,869,064 (GRCm39) |
|
probably null |
Het |
| Exph5 |
T |
C |
9: 53,287,869 (GRCm39) |
L1650P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,535,324 (GRCm39) |
Y691C |
probably damaging |
Het |
| Fshb |
T |
C |
2: 106,889,173 (GRCm39) |
T44A |
probably benign |
Het |
| Gm28044 |
T |
A |
13: 67,495,958 (GRCm39) |
K28* |
probably null |
Het |
| Il12b |
G |
A |
11: 44,298,881 (GRCm39) |
W112* |
probably null |
Het |
| Ino80 |
T |
C |
2: 119,263,802 (GRCm39) |
T621A |
probably damaging |
Het |
| Irx5 |
T |
A |
8: 93,086,155 (GRCm39) |
|
probably benign |
Het |
| Jmy |
T |
C |
13: 93,596,144 (GRCm39) |
H495R |
possibly damaging |
Het |
| Kif21a |
A |
T |
15: 90,875,970 (GRCm39) |
V321D |
probably damaging |
Het |
| Lrrc10 |
T |
A |
10: 116,881,921 (GRCm39) |
D198E |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,818,103 (GRCm39) |
E651G |
probably benign |
Het |
| Mtarc1 |
A |
G |
1: 184,519,931 (GRCm39) |
V230A |
probably damaging |
Het |
| Mylk4 |
T |
A |
13: 32,901,564 (GRCm39) |
I475L |
possibly damaging |
Het |
| Myom3 |
G |
A |
4: 135,493,013 (GRCm39) |
|
probably null |
Het |
| Or5ac19 |
A |
T |
16: 59,089,442 (GRCm39) |
V196E |
probably benign |
Het |
| Pah |
G |
A |
10: 87,414,844 (GRCm39) |
V399M |
probably damaging |
Het |
| Pik3r4 |
G |
A |
9: 105,540,244 (GRCm39) |
E711K |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,570,296 (GRCm39) |
K38E |
probably damaging |
Het |
| Ror1 |
G |
A |
4: 100,283,161 (GRCm39) |
V409M |
possibly damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,111,853 (GRCm39) |
V140D |
probably benign |
Het |
| Srebf2 |
G |
T |
15: 82,076,560 (GRCm39) |
A737S |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,663,721 (GRCm39) |
T303A |
unknown |
Het |
| Tmem74 |
A |
T |
15: 43,730,476 (GRCm39) |
I189N |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,746,607 (GRCm39) |
D1242G |
possibly damaging |
Het |
| U2surp |
A |
T |
9: 95,372,279 (GRCm39) |
F293L |
probably damaging |
Het |
| Uchl5 |
G |
A |
1: 143,661,864 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,402,565 (GRCm39) |
C2472S |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,700,940 (GRCm39) |
R1028W |
probably damaging |
Het |
| Vmn2r10 |
A |
G |
5: 109,154,125 (GRCm39) |
S60P |
probably benign |
Het |
| Vmn2r31 |
G |
T |
7: 7,397,510 (GRCm39) |
D249E |
probably benign |
Het |
| Vnn1 |
C |
T |
10: 23,776,642 (GRCm39) |
T331I |
probably benign |
Het |
| Zmym6 |
G |
T |
4: 126,994,541 (GRCm39) |
V232F |
probably damaging |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation