Incidental Mutation 'R4271:Ccdc88c'
| ID |
322183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc88c
|
| Ensembl Gene |
ENSMUSG00000021182 |
| Gene Name |
coiled-coil domain containing 88C |
| Synonyms |
Daple, 0610010D24Rik |
| MMRRC Submission |
041076-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4271 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
100877782-100995315 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100913478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 516
(Q516K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068411]
[ENSMUST00000085096]
[ENSMUST00000223235]
|
| AlphaFold |
Q6VGS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068411
AA Change: Q516K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182
AA Change: Q516K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
7 |
586 |
5.9e-37 |
PFAM |
|
low complexity region
|
601 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
634 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
668 |
719 |
3e-8 |
BLAST |
|
low complexity region
|
724 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
866 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
948 |
1007 |
6e-15 |
BLAST |
|
coiled coil region
|
1035 |
1085 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1110 |
N/A |
INTRINSIC |
|
coiled coil region
|
1129 |
1252 |
N/A |
INTRINSIC |
|
coiled coil region
|
1312 |
1384 |
N/A |
INTRINSIC |
|
low complexity region
|
1430 |
1439 |
N/A |
INTRINSIC |
|
low complexity region
|
1510 |
1524 |
N/A |
INTRINSIC |
|
low complexity region
|
1562 |
1583 |
N/A |
INTRINSIC |
|
low complexity region
|
1698 |
1709 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1721 |
1778 |
6.97e-6 |
PROSPERO |
|
low complexity region
|
1788 |
1808 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1934 |
1989 |
6.97e-6 |
PROSPERO |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085096
AA Change: Q523K
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182
AA Change: Q523K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
13 |
597 |
2.5e-41 |
PFAM |
|
low complexity region
|
608 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
641 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
675 |
726 |
3e-8 |
BLAST |
|
low complexity region
|
731 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
834 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
873 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
955 |
1014 |
5e-15 |
BLAST |
|
coiled coil region
|
1042 |
1092 |
N/A |
INTRINSIC |
|
low complexity region
|
1102 |
1117 |
N/A |
INTRINSIC |
|
coiled coil region
|
1136 |
1259 |
N/A |
INTRINSIC |
|
coiled coil region
|
1319 |
1391 |
N/A |
INTRINSIC |
|
low complexity region
|
1437 |
1446 |
N/A |
INTRINSIC |
|
low complexity region
|
1517 |
1531 |
N/A |
INTRINSIC |
|
low complexity region
|
1569 |
1590 |
N/A |
INTRINSIC |
|
low complexity region
|
1705 |
1716 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1728 |
1785 |
6.57e-6 |
PROSPERO |
|
low complexity region
|
1795 |
1815 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1941 |
1996 |
6.57e-6 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221309
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223235
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
A |
G |
2: 103,856,549 (GRCm39) |
|
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,073,934 (GRCm39) |
|
probably null |
Het |
| Actr6 |
T |
A |
10: 89,553,101 (GRCm39) |
R252S |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
| B430203G13Rik |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
12: 17,974,358 (GRCm39) |
|
noncoding transcript |
Het |
| C1galt1 |
T |
C |
6: 7,866,607 (GRCm39) |
F151S |
probably damaging |
Het |
| C1qtnf6 |
G |
A |
15: 78,409,466 (GRCm39) |
T127I |
probably benign |
Het |
| Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
| Cecr2 |
C |
T |
6: 120,739,436 (GRCm39) |
H1360Y |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,470,793 (GRCm39) |
E484G |
probably benign |
Het |
| Chml |
G |
A |
1: 175,515,360 (GRCm39) |
T187M |
probably benign |
Het |
| Chpt1 |
C |
T |
10: 88,317,214 (GRCm39) |
|
probably benign |
Het |
| Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,478,904 (GRCm39) |
V1483L |
possibly damaging |
Het |
| Cyfip1 |
A |
T |
7: 55,528,849 (GRCm39) |
M244L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,335,783 (GRCm39) |
I59T |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,154,856 (GRCm39) |
F414L |
probably damaging |
Het |
| Gm1110 |
A |
T |
9: 26,806,944 (GRCm39) |
|
probably null |
Het |
| Gsap |
T |
C |
5: 21,431,348 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,510 (GRCm39) |
Y111C |
probably damaging |
Het |
| Hectd4 |
AGCGGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGGCGG |
5: 121,358,567 (GRCm39) |
|
probably benign |
Het |
| Kif12 |
T |
C |
4: 63,088,983 (GRCm39) |
Q146R |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
| Klhl15 |
AG |
A |
X: 93,296,718 (GRCm39) |
|
probably null |
Het |
| Lims1 |
T |
C |
10: 58,246,026 (GRCm39) |
|
probably null |
Het |
| Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,433,614 (GRCm39) |
D242G |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,871,038 (GRCm39) |
L340Q |
probably damaging |
Het |
| Or4n4b |
A |
T |
14: 50,535,908 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5p80 |
T |
A |
7: 108,229,560 (GRCm39) |
Y120* |
probably null |
Het |
| Osbpl5 |
G |
T |
7: 143,249,339 (GRCm39) |
Y543* |
probably null |
Het |
| Polr1a |
G |
A |
6: 71,930,006 (GRCm39) |
E898K |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,570,825 (GRCm39) |
A1165V |
probably benign |
Het |
| Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,942,408 (GRCm39) |
D306G |
probably damaging |
Het |
| Slco4a1 |
A |
G |
2: 180,116,003 (GRCm39) |
D713G |
possibly damaging |
Het |
| Smarca2 |
T |
A |
19: 26,698,349 (GRCm39) |
|
probably null |
Het |
| Spem2 |
T |
C |
11: 69,708,251 (GRCm39) |
Y238C |
probably damaging |
Het |
| Srpk2 |
T |
A |
5: 23,753,513 (GRCm39) |
H80L |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,162 (GRCm39) |
L365P |
probably damaging |
Het |
| Tsnax |
T |
C |
8: 125,759,468 (GRCm39) |
L243P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,731,979 (GRCm39) |
|
probably benign |
Het |
| V1rd19 |
A |
G |
7: 23,702,839 (GRCm39) |
T102A |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,463,940 (GRCm39) |
I783M |
probably damaging |
Het |
| Zeb1 |
C |
A |
18: 5,758,985 (GRCm39) |
Q148K |
probably damaging |
Het |
|
| Other mutations in Ccdc88c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01112:Ccdc88c
|
APN |
12 |
100,883,062 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02016:Ccdc88c
|
APN |
12 |
100,907,466 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02031:Ccdc88c
|
APN |
12 |
100,899,570 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02133:Ccdc88c
|
APN |
12 |
100,906,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02427:Ccdc88c
|
APN |
12 |
100,887,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02494:Ccdc88c
|
APN |
12 |
100,911,734 (GRCm39) |
missense |
probably benign |
|
|
IGL02496:Ccdc88c
|
APN |
12 |
100,919,552 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02549:Ccdc88c
|
APN |
12 |
100,895,191 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02618:Ccdc88c
|
APN |
12 |
100,879,812 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02626:Ccdc88c
|
APN |
12 |
100,934,059 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03142:Ccdc88c
|
APN |
12 |
100,913,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Ccdc88c
|
UTSW |
12 |
100,911,749 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB020:Ccdc88c
|
UTSW |
12 |
100,911,749 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0127:Ccdc88c
|
UTSW |
12 |
100,901,999 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0533:Ccdc88c
|
UTSW |
12 |
100,920,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Ccdc88c
|
UTSW |
12 |
100,913,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0866:Ccdc88c
|
UTSW |
12 |
100,879,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1230:Ccdc88c
|
UTSW |
12 |
100,914,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1434:Ccdc88c
|
UTSW |
12 |
100,905,425 (GRCm39) |
splice site |
probably benign |
|
|
R1614:Ccdc88c
|
UTSW |
12 |
100,879,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1644:Ccdc88c
|
UTSW |
12 |
100,879,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1712:Ccdc88c
|
UTSW |
12 |
100,905,284 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2107:Ccdc88c
|
UTSW |
12 |
100,887,808 (GRCm39) |
missense |
probably benign |
|
|
R3612:Ccdc88c
|
UTSW |
12 |
100,905,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3724:Ccdc88c
|
UTSW |
12 |
100,896,783 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3737:Ccdc88c
|
UTSW |
12 |
100,896,783 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3743:Ccdc88c
|
UTSW |
12 |
100,914,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Ccdc88c
|
UTSW |
12 |
100,932,359 (GRCm39) |
unclassified |
probably benign |
|
|
R3776:Ccdc88c
|
UTSW |
12 |
100,913,438 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3917:Ccdc88c
|
UTSW |
12 |
100,907,366 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4034:Ccdc88c
|
UTSW |
12 |
100,896,783 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4035:Ccdc88c
|
UTSW |
12 |
100,896,783 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4110:Ccdc88c
|
UTSW |
12 |
100,911,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4113:Ccdc88c
|
UTSW |
12 |
100,911,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4270:Ccdc88c
|
UTSW |
12 |
100,913,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4520:Ccdc88c
|
UTSW |
12 |
100,879,591 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4521:Ccdc88c
|
UTSW |
12 |
100,879,591 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4522:Ccdc88c
|
UTSW |
12 |
100,879,591 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4523:Ccdc88c
|
UTSW |
12 |
100,879,591 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4524:Ccdc88c
|
UTSW |
12 |
100,879,591 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4717:Ccdc88c
|
UTSW |
12 |
100,882,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4821:Ccdc88c
|
UTSW |
12 |
100,904,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4823:Ccdc88c
|
UTSW |
12 |
100,896,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Ccdc88c
|
UTSW |
12 |
100,920,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Ccdc88c
|
UTSW |
12 |
100,911,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Ccdc88c
|
UTSW |
12 |
100,879,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5903:Ccdc88c
|
UTSW |
12 |
100,896,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5999:Ccdc88c
|
UTSW |
12 |
100,934,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6131:Ccdc88c
|
UTSW |
12 |
100,907,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Ccdc88c
|
UTSW |
12 |
100,919,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6971:Ccdc88c
|
UTSW |
12 |
100,920,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Ccdc88c
|
UTSW |
12 |
100,883,111 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7031:Ccdc88c
|
UTSW |
12 |
100,911,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7240:Ccdc88c
|
UTSW |
12 |
100,911,198 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7366:Ccdc88c
|
UTSW |
12 |
100,911,209 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7604:Ccdc88c
|
UTSW |
12 |
100,896,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7674:Ccdc88c
|
UTSW |
12 |
100,911,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7795:Ccdc88c
|
UTSW |
12 |
100,889,570 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7933:Ccdc88c
|
UTSW |
12 |
100,911,749 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7990:Ccdc88c
|
UTSW |
12 |
100,934,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8339:Ccdc88c
|
UTSW |
12 |
100,907,399 (GRCm39) |
nonsense |
probably null |
|
|
R8734:Ccdc88c
|
UTSW |
12 |
100,906,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8778:Ccdc88c
|
UTSW |
12 |
100,911,483 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8925:Ccdc88c
|
UTSW |
12 |
100,932,676 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8927:Ccdc88c
|
UTSW |
12 |
100,932,676 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9014:Ccdc88c
|
UTSW |
12 |
100,879,323 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9204:Ccdc88c
|
UTSW |
12 |
100,904,322 (GRCm39) |
missense |
unknown |
|
|
R9257:Ccdc88c
|
UTSW |
12 |
100,889,474 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9326:Ccdc88c
|
UTSW |
12 |
100,995,109 (GRCm39) |
start gained |
probably benign |
|
|
R9424:Ccdc88c
|
UTSW |
12 |
100,911,749 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9439:Ccdc88c
|
UTSW |
12 |
100,884,597 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9539:Ccdc88c
|
UTSW |
12 |
100,901,993 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9576:Ccdc88c
|
UTSW |
12 |
100,911,749 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Ccdc88c
|
UTSW |
12 |
100,912,029 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Ccdc88c
|
UTSW |
12 |
100,911,414 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Ccdc88c
|
UTSW |
12 |
100,889,591 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTCAGAACAATCAGAGCTG -3'
(R):5'- ATTGCTGCAGAGAGACACTG -3'
Sequencing Primer
(F):5'- AGAGCTGTCTGGGGACACTAC -3'
(R):5'- GTCTGTCTGAACACAGCT -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation