Incidental Mutation 'R8371:Ccdc178'
| ID |
646422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc178
|
| Ensembl Gene |
ENSMUSG00000024306 |
| Gene Name |
coiled coil domain containing 178 |
| Synonyms |
4921528I01Rik |
| MMRRC Submission |
067740-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8371 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
21943954-22304453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21944561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 866
(D866G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025160]
[ENSMUST00000115837]
|
| AlphaFold |
Q8CDV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025160
AA Change: D866G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: D866G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
157 |
204 |
N/A |
INTRINSIC |
|
coiled coil region
|
226 |
266 |
N/A |
INTRINSIC |
|
coiled coil region
|
292 |
404 |
N/A |
INTRINSIC |
|
coiled coil region
|
514 |
541 |
N/A |
INTRINSIC |
|
coiled coil region
|
570 |
631 |
N/A |
INTRINSIC |
|
coiled coil region
|
665 |
705 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
732 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115837
AA Change: D866G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: D866G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
157 |
204 |
N/A |
INTRINSIC |
|
coiled coil region
|
226 |
266 |
N/A |
INTRINSIC |
|
coiled coil region
|
292 |
404 |
N/A |
INTRINSIC |
|
coiled coil region
|
514 |
541 |
N/A |
INTRINSIC |
|
coiled coil region
|
570 |
631 |
N/A |
INTRINSIC |
|
coiled coil region
|
665 |
705 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
732 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
T |
11: 109,945,473 (GRCm39) |
Q1050K |
probably benign |
Het |
| B4galt5 |
A |
G |
2: 167,151,145 (GRCm39) |
M121T |
probably damaging |
Het |
| Birc2 |
A |
G |
9: 7,849,427 (GRCm39) |
L549P |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,610,036 (GRCm39) |
N368S |
possibly damaging |
Het |
| Cbr1 |
A |
G |
16: 93,406,779 (GRCm39) |
E165G |
probably damaging |
Het |
| Cd40 |
G |
A |
2: 164,908,458 (GRCm39) |
G178E |
probably damaging |
Het |
| Cers1 |
T |
A |
8: 70,782,223 (GRCm39) |
L349H |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,470,275 (GRCm39) |
K445R |
probably benign |
Het |
| Clca3a2 |
G |
T |
3: 144,513,114 (GRCm39) |
S477* |
probably null |
Het |
| Clec4a1 |
T |
A |
6: 122,910,882 (GRCm39) |
*246R |
probably null |
Het |
| CN725425 |
T |
C |
15: 91,124,973 (GRCm39) |
I171T |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,377,414 (GRCm39) |
M1280T |
probably benign |
Het |
| Csf1r |
A |
T |
18: 61,250,663 (GRCm39) |
Q458L |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,805,438 (GRCm39) |
V193E |
possibly damaging |
Het |
| Cys1 |
A |
G |
12: 24,718,694 (GRCm39) |
I53T |
probably benign |
Het |
| Dhrs3 |
A |
C |
4: 144,645,953 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
T |
C |
17: 80,582,919 (GRCm39) |
R229G |
probably benign |
Het |
| Dhx9 |
T |
C |
1: 153,331,961 (GRCm39) |
N1336D |
unknown |
Het |
| Dmgdh |
T |
A |
13: 93,845,238 (GRCm39) |
H410Q |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,031,781 (GRCm39) |
M2225K |
probably benign |
Het |
| Eif4g3 |
T |
G |
4: 137,824,156 (GRCm39) |
Y80D |
probably damaging |
Het |
| Ephx4 |
A |
T |
5: 107,561,384 (GRCm39) |
I164F |
possibly damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fhl4 |
G |
A |
10: 84,934,637 (GRCm39) |
A48V |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,437,173 (GRCm39) |
L1048S |
unknown |
Het |
| Gemin5 |
T |
C |
11: 58,017,384 (GRCm39) |
M1212V |
probably benign |
Het |
| Gm9195 |
C |
T |
14: 72,697,899 (GRCm39) |
V1294I |
probably benign |
Het |
| Gpr55 |
A |
T |
1: 85,868,849 (GRCm39) |
V244E |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,202,787 (GRCm39) |
F429Y |
probably damaging |
Het |
| Jade2 |
T |
A |
11: 51,715,959 (GRCm39) |
E415D |
probably benign |
Het |
| Kcnj4 |
T |
A |
15: 79,369,342 (GRCm39) |
I213F |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
| Krt82 |
T |
C |
15: 101,453,546 (GRCm39) |
E280G |
probably benign |
Het |
| Lemd1 |
C |
A |
1: 132,156,687 (GRCm39) |
Q40K |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,124,444 (GRCm39) |
L423P |
possibly damaging |
Het |
| Lrp8 |
A |
G |
4: 107,726,268 (GRCm39) |
Y773C |
probably damaging |
Het |
| Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
| Mroh8 |
A |
T |
2: 157,094,896 (GRCm39) |
Y363* |
probably null |
Het |
| Or2n1c |
G |
A |
17: 38,519,189 (GRCm39) |
A18T |
probably benign |
Het |
| Or51a25 |
C |
A |
7: 102,372,790 (GRCm39) |
K302N |
probably damaging |
Het |
| Or5p61 |
G |
A |
7: 107,758,435 (GRCm39) |
T215I |
probably benign |
Het |
| Pcdha2 |
T |
C |
18: 37,073,316 (GRCm39) |
Y316H |
possibly damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,920 (GRCm39) |
C704* |
probably null |
Het |
| Pik3c2g |
G |
A |
6: 139,881,782 (GRCm39) |
V923M |
unknown |
Het |
| Rhd |
A |
G |
4: 134,603,694 (GRCm39) |
S72G |
probably benign |
Het |
| Rhot1 |
T |
C |
11: 80,134,292 (GRCm39) |
L295P |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,268,458 (GRCm39) |
E139G |
possibly damaging |
Het |
| Scnn1a |
T |
G |
6: 125,320,806 (GRCm39) |
Y620D |
possibly damaging |
Het |
| Serpinb12 |
A |
T |
1: 106,884,135 (GRCm39) |
I294L |
probably benign |
Het |
| Serpinb3d |
T |
C |
1: 107,008,469 (GRCm39) |
D132G |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,502,541 (GRCm39) |
D254V |
probably damaging |
Het |
| Srrm1 |
A |
T |
4: 135,052,532 (GRCm39) |
I614N |
unknown |
Het |
| Stt3b |
A |
G |
9: 115,095,243 (GRCm39) |
Y263H |
probably damaging |
Het |
| Taf7 |
T |
A |
18: 37,776,552 (GRCm39) |
K5I |
probably damaging |
Het |
| Tbck |
C |
A |
3: 132,458,285 (GRCm39) |
H638Q |
possibly damaging |
Het |
| Tnfsf9 |
A |
C |
17: 57,412,541 (GRCm39) |
D37A |
probably benign |
Het |
| Trim71 |
C |
A |
9: 114,344,857 (GRCm39) |
V354F |
probably benign |
Het |
| Tspoap1 |
T |
G |
11: 87,669,127 (GRCm39) |
C1467G |
probably benign |
Het |
| Xirp1 |
C |
T |
9: 119,848,499 (GRCm39) |
R128Q |
possibly damaging |
Het |
| Zc3h12d |
GCCC |
GCC |
10: 7,715,735 (GRCm39) |
|
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,301,549 (GRCm39) |
D2145G |
probably damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,117,168 (GRCm39) |
T220A |
probably benign |
Het |
|
| Other mutations in Ccdc178 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Ccdc178
|
APN |
18 |
21,977,968 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00743:Ccdc178
|
APN |
18 |
22,278,501 (GRCm39) |
splice site |
probably benign |
|
|
IGL00906:Ccdc178
|
APN |
18 |
22,268,225 (GRCm39) |
nonsense |
probably null |
|
|
IGL01352:Ccdc178
|
APN |
18 |
22,152,031 (GRCm39) |
splice site |
probably benign |
|
|
IGL01553:Ccdc178
|
APN |
18 |
22,048,063 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01607:Ccdc178
|
APN |
18 |
22,200,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01733:Ccdc178
|
APN |
18 |
22,157,869 (GRCm39) |
splice site |
probably benign |
|
|
IGL01795:Ccdc178
|
APN |
18 |
22,152,175 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01996:Ccdc178
|
APN |
18 |
22,230,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02939:Ccdc178
|
APN |
18 |
22,253,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03213:Ccdc178
|
APN |
18 |
22,253,748 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03253:Ccdc178
|
APN |
18 |
21,978,068 (GRCm39) |
nonsense |
probably null |
|
|
IGL03331:Ccdc178
|
APN |
18 |
21,944,640 (GRCm39) |
splice site |
probably null |
|
|
PIT4520001:Ccdc178
|
UTSW |
18 |
22,200,470 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0121:Ccdc178
|
UTSW |
18 |
21,978,081 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0153:Ccdc178
|
UTSW |
18 |
22,283,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0364:Ccdc178
|
UTSW |
18 |
22,048,119 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0604:Ccdc178
|
UTSW |
18 |
22,200,500 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0709:Ccdc178
|
UTSW |
18 |
22,200,719 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0961:Ccdc178
|
UTSW |
18 |
22,152,098 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1029:Ccdc178
|
UTSW |
18 |
22,230,782 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1456:Ccdc178
|
UTSW |
18 |
22,283,481 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1481:Ccdc178
|
UTSW |
18 |
22,238,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1596:Ccdc178
|
UTSW |
18 |
22,153,930 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1739:Ccdc178
|
UTSW |
18 |
22,230,780 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1838:Ccdc178
|
UTSW |
18 |
22,200,695 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2214:Ccdc178
|
UTSW |
18 |
22,048,047 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2401:Ccdc178
|
UTSW |
18 |
22,264,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2679:Ccdc178
|
UTSW |
18 |
21,944,613 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3051:Ccdc178
|
UTSW |
18 |
22,268,188 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3150:Ccdc178
|
UTSW |
18 |
22,200,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3151:Ccdc178
|
UTSW |
18 |
21,944,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3177:Ccdc178
|
UTSW |
18 |
22,200,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3277:Ccdc178
|
UTSW |
18 |
22,200,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3903:Ccdc178
|
UTSW |
18 |
22,156,152 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4184:Ccdc178
|
UTSW |
18 |
22,157,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4258:Ccdc178
|
UTSW |
18 |
22,150,392 (GRCm39) |
splice site |
probably null |
|
|
R4319:Ccdc178
|
UTSW |
18 |
22,166,600 (GRCm39) |
nonsense |
probably null |
|
|
R4321:Ccdc178
|
UTSW |
18 |
22,166,600 (GRCm39) |
nonsense |
probably null |
|
|
R4323:Ccdc178
|
UTSW |
18 |
22,166,600 (GRCm39) |
nonsense |
probably null |
|
|
R4509:Ccdc178
|
UTSW |
18 |
22,200,449 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4672:Ccdc178
|
UTSW |
18 |
22,283,501 (GRCm39) |
nonsense |
probably null |
|
|
R5078:Ccdc178
|
UTSW |
18 |
22,200,685 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5099:Ccdc178
|
UTSW |
18 |
22,238,648 (GRCm39) |
missense |
probably benign |
|
|
R5679:Ccdc178
|
UTSW |
18 |
22,200,486 (GRCm39) |
missense |
probably benign |
|
|
R5683:Ccdc178
|
UTSW |
18 |
22,263,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6120:Ccdc178
|
UTSW |
18 |
22,230,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6318:Ccdc178
|
UTSW |
18 |
22,253,591 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6717:Ccdc178
|
UTSW |
18 |
22,153,946 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6853:Ccdc178
|
UTSW |
18 |
22,242,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6980:Ccdc178
|
UTSW |
18 |
22,238,620 (GRCm39) |
missense |
probably benign |
|
|
R7019:Ccdc178
|
UTSW |
18 |
22,283,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7246:Ccdc178
|
UTSW |
18 |
22,242,811 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7322:Ccdc178
|
UTSW |
18 |
22,238,606 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7340:Ccdc178
|
UTSW |
18 |
22,150,518 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7371:Ccdc178
|
UTSW |
18 |
22,263,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8003:Ccdc178
|
UTSW |
18 |
21,977,944 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8670:Ccdc178
|
UTSW |
18 |
22,230,719 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8695:Ccdc178
|
UTSW |
18 |
22,157,809 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8885:Ccdc178
|
UTSW |
18 |
22,200,721 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9504:Ccdc178
|
UTSW |
18 |
22,238,708 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9518:Ccdc178
|
UTSW |
18 |
22,278,516 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0063:Ccdc178
|
UTSW |
18 |
21,977,969 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Ccdc178
|
UTSW |
18 |
22,242,788 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAGCTGAAATTAGATCGTTCC -3'
(R):5'- ACAAGTTTTCCACATGTATGGC -3'
Sequencing Primer
(F):5'- AATTAGATCGTTCCTGACAGCGG -3'
(R):5'- CCACATGTATGGCTTCAGGATG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation