Incidental Mutation 'R3151:Ccdc178'
ID |
264433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc178
|
Ensembl Gene |
ENSMUSG00000024306 |
Gene Name |
coiled coil domain containing 178 |
Synonyms |
4921528I01Rik |
MMRRC Submission |
040603-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3151 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
21943954-22304453 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 21944618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 847
(M847K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025160]
[ENSMUST00000115837]
|
AlphaFold |
Q8CDV0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025160
AA Change: M847K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000025160 Gene: ENSMUSG00000024306 AA Change: M847K
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 |
probably benign
Transcript: ENSMUST00000115837
AA Change: M847K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000111503 Gene: ENSMUSG00000024306 AA Change: M847K
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 |
|
Meta Mutation Damage Score |
0.1318 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
G |
8: 25,271,647 (GRCm39) |
Y587H |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,987,308 (GRCm39) |
V2864A |
probably benign |
Het |
Ano2 |
G |
A |
6: 125,990,280 (GRCm39) |
|
probably null |
Het |
Arl5c |
A |
G |
11: 97,883,159 (GRCm39) |
I147T |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,274,378 (GRCm39) |
F369I |
probably damaging |
Het |
Atg4a-ps |
A |
G |
3: 103,553,228 (GRCm39) |
F38L |
probably benign |
Het |
B230217C12Rik |
TGTGTCG |
TG |
11: 97,733,014 (GRCm39) |
|
probably null |
Het |
Cacna1s |
A |
T |
1: 136,033,532 (GRCm39) |
Y1003F |
probably damaging |
Het |
Clca4b |
T |
C |
3: 144,621,272 (GRCm39) |
K601E |
probably benign |
Het |
Cnih4 |
A |
G |
1: 180,981,292 (GRCm39) |
|
probably benign |
Het |
Cnpy3 |
A |
T |
17: 47,058,452 (GRCm39) |
V57E |
probably damaging |
Het |
Creb3l1 |
T |
A |
2: 91,832,378 (GRCm39) |
E48V |
probably damaging |
Het |
Dus3l |
T |
A |
17: 57,075,899 (GRCm39) |
F482I |
probably benign |
Het |
Dync1i2 |
A |
G |
2: 71,064,060 (GRCm39) |
|
probably benign |
Het |
Echdc1 |
A |
G |
10: 29,198,360 (GRCm39) |
T102A |
possibly damaging |
Het |
Elf1 |
G |
A |
14: 79,804,755 (GRCm39) |
|
probably null |
Het |
Elp1 |
T |
C |
4: 56,770,985 (GRCm39) |
Y986C |
probably benign |
Het |
Ep400 |
G |
T |
5: 110,851,435 (GRCm39) |
T1349N |
unknown |
Het |
Eps15 |
T |
A |
4: 109,223,419 (GRCm39) |
D458E |
probably benign |
Het |
F2rl2 |
G |
A |
13: 95,837,638 (GRCm39) |
V228I |
probably benign |
Het |
Fads3 |
T |
G |
19: 10,035,262 (GRCm39) |
S438A |
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,816,665 (GRCm39) |
C2376S |
probably damaging |
Het |
Fndc3b |
A |
G |
3: 27,473,652 (GRCm39) |
S1138P |
possibly damaging |
Het |
Ggt5 |
T |
C |
10: 75,445,076 (GRCm39) |
I361T |
probably benign |
Het |
Gpr158 |
C |
T |
2: 21,581,771 (GRCm39) |
R417W |
possibly damaging |
Het |
Gria1 |
A |
G |
11: 57,174,388 (GRCm39) |
I626V |
probably damaging |
Het |
Gys2 |
T |
C |
6: 142,402,059 (GRCm39) |
E260G |
probably benign |
Het |
Ido2 |
T |
A |
8: 25,023,776 (GRCm39) |
Y354F |
possibly damaging |
Het |
Igkv6-23 |
A |
G |
6: 70,237,543 (GRCm39) |
L66P |
probably benign |
Het |
Kremen1 |
T |
C |
11: 5,145,012 (GRCm39) |
K455E |
probably damaging |
Het |
Krtap19-9b |
T |
C |
16: 88,729,096 (GRCm39) |
S2G |
unknown |
Het |
Magea1 |
A |
T |
X: 153,872,093 (GRCm39) |
M211K |
probably benign |
Het |
Mtx2 |
G |
A |
2: 74,677,634 (GRCm39) |
|
probably null |
Het |
Nlrp14 |
G |
A |
7: 106,781,759 (GRCm39) |
V319I |
probably benign |
Het |
Nphs1 |
A |
T |
7: 30,159,665 (GRCm39) |
T33S |
probably benign |
Het |
Or12j2 |
A |
T |
7: 139,916,243 (GRCm39) |
H156L |
probably benign |
Het |
Or2t6 |
T |
A |
14: 14,175,203 (GRCm38) |
N293I |
probably damaging |
Het |
Or3a1c |
A |
T |
11: 74,046,466 (GRCm39) |
H162L |
probably damaging |
Het |
P2rx7 |
A |
G |
5: 122,819,329 (GRCm39) |
T584A |
probably benign |
Het |
Pclo |
A |
G |
5: 14,571,692 (GRCm39) |
Q359R |
probably damaging |
Het |
Phtf2 |
T |
C |
5: 20,970,802 (GRCm39) |
E147G |
probably damaging |
Het |
Ptges2 |
G |
A |
2: 32,286,488 (GRCm39) |
A68T |
probably benign |
Het |
Rab33b |
A |
T |
3: 51,401,069 (GRCm39) |
N181I |
possibly damaging |
Het |
Rnf213 |
A |
T |
11: 119,359,718 (GRCm39) |
R4370S |
probably benign |
Het |
Rpf1 |
G |
A |
3: 146,213,390 (GRCm39) |
R254W |
probably damaging |
Het |
Serpinb7 |
A |
T |
1: 107,363,081 (GRCm39) |
R82* |
probably null |
Het |
Setbp1 |
A |
G |
18: 78,900,650 (GRCm39) |
S1006P |
probably damaging |
Het |
Spata31d1a |
T |
C |
13: 59,849,180 (GRCm39) |
S983G |
probably benign |
Het |
Ssr2 |
T |
C |
3: 88,487,323 (GRCm39) |
I46T |
probably damaging |
Het |
Ssx2ip |
G |
A |
3: 146,124,138 (GRCm39) |
G51D |
probably benign |
Het |
Synj1 |
A |
T |
16: 90,757,514 (GRCm39) |
L878H |
probably damaging |
Het |
Th |
G |
A |
7: 142,447,812 (GRCm39) |
Q329* |
probably null |
Het |
Tln2 |
C |
T |
9: 67,237,829 (GRCm39) |
|
probably null |
Het |
Trio |
A |
G |
15: 27,805,862 (GRCm39) |
L542P |
probably damaging |
Het |
Trp53bp2 |
A |
G |
1: 182,256,525 (GRCm39) |
T32A |
probably damaging |
Het |
Vmn1r40 |
A |
T |
6: 89,691,548 (GRCm39) |
T122S |
probably benign |
Het |
Vmn2r121 |
C |
T |
X: 123,040,849 (GRCm39) |
C494Y |
probably benign |
Het |
Vmn2r51 |
A |
T |
7: 9,833,968 (GRCm39) |
Y357N |
probably damaging |
Het |
Vmn2r55 |
G |
T |
7: 12,404,634 (GRCm39) |
S256R |
probably benign |
Het |
Vps8 |
A |
G |
16: 21,261,123 (GRCm39) |
T88A |
probably benign |
Het |
Zfp977 |
A |
C |
7: 42,229,870 (GRCm39) |
N218K |
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 |
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 |
|
R8371:Ccdc178
|
UTSW |
18 |
21,944,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
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'- GTCCATGGAAGTGTGAAATGGC -3'
(R):5'- AGTGATGCACTTCCCTTGTC -3'
Sequencing Primer
(F):5'- TGGCAAACAGGTGAATGTCCAATTAC -3'
(R):5'- GTCTCATCCACGGTCTACTTAAG -3'
|
Posted On |
2015-02-05 |