Incidental Mutation 'R0709:Ccdc178'
| ID |
216242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc178
|
| Ensembl Gene |
ENSMUSG00000024306 |
| Gene Name |
coiled coil domain containing 178 |
| Synonyms |
4921528I01Rik |
| MMRRC Submission |
038892-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0709 (G1)
|
| Quality Score |
70 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
21943954-22304453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22200719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 413
(Y413H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025160]
[ENSMUST00000115837]
|
| AlphaFold |
Q8CDV0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025160
AA Change: Y413H
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: Y413H
| 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 damaging
Transcript: ENSMUST00000115837
AA Change: Y413H
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: Y413H
| 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 |
0.1066 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (83/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
A |
T |
16: 14,436,358 (GRCm39) |
D137V |
probably damaging |
Het |
| Aar2 |
C |
T |
2: 156,408,930 (GRCm39) |
P378L |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,195,342 (GRCm39) |
H718Q |
possibly damaging |
Het |
| Ace |
G |
T |
11: 105,872,364 (GRCm39) |
L319F |
probably damaging |
Het |
| Angpt4 |
C |
A |
2: 151,776,434 (GRCm39) |
P321T |
possibly damaging |
Het |
| Atrip |
T |
C |
9: 108,896,171 (GRCm39) |
N282S |
probably benign |
Het |
| AW554918 |
A |
C |
18: 25,596,711 (GRCm39) |
S525R |
probably damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,414,969 (GRCm39) |
I644N |
possibly damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,863,127 (GRCm39) |
H223R |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,579,260 (GRCm39) |
V634A |
possibly damaging |
Het |
| Col7a1 |
T |
A |
9: 108,790,616 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
T |
9: 98,445,220 (GRCm39) |
|
probably benign |
Het |
| Csrnp3 |
C |
T |
2: 65,852,907 (GRCm39) |
S445L |
probably damaging |
Het |
| Cxcl13 |
G |
T |
5: 96,106,530 (GRCm39) |
C34F |
probably damaging |
Het |
| Dars2 |
T |
C |
1: 160,874,498 (GRCm39) |
E397G |
probably benign |
Het |
| Dlg5 |
C |
T |
14: 24,196,323 (GRCm39) |
V1625M |
probably damaging |
Het |
| Dnah12 |
T |
G |
14: 26,606,222 (GRCm39) |
|
probably benign |
Het |
| Eif4a1 |
C |
A |
11: 69,561,078 (GRCm39) |
A76S |
probably damaging |
Het |
| Fam162b |
T |
A |
10: 51,463,347 (GRCm39) |
I107L |
probably damaging |
Het |
| Fbxo30 |
G |
T |
10: 11,167,057 (GRCm39) |
C593F |
possibly damaging |
Het |
| Fut9 |
A |
G |
4: 25,620,359 (GRCm39) |
F152L |
probably damaging |
Het |
| Galnt2 |
G |
A |
8: 125,070,085 (GRCm39) |
G534D |
probably benign |
Het |
| Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
| Golm2 |
T |
A |
2: 121,697,906 (GRCm39) |
V74E |
probably damaging |
Het |
| Gprc5a |
T |
A |
6: 135,055,948 (GRCm39) |
S132T |
probably damaging |
Het |
| Hk3 |
G |
A |
13: 55,162,543 (GRCm39) |
R47C |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,815 (GRCm39) |
Q3351L |
unknown |
Het |
| Icam1 |
T |
A |
9: 20,930,423 (GRCm39) |
F92L |
probably damaging |
Het |
| Ifi213 |
C |
T |
1: 173,417,366 (GRCm39) |
V349I |
possibly damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,275,888 (GRCm39) |
|
probably benign |
Het |
| Irx3 |
A |
G |
8: 92,526,048 (GRCm39) |
V487A |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 33,855,924 (GRCm39) |
V204A |
probably damaging |
Het |
| Krt16 |
T |
C |
11: 100,137,280 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,492,665 (GRCm39) |
V1369I |
probably benign |
Het |
| Med13 |
T |
A |
11: 86,210,422 (GRCm39) |
K573N |
possibly damaging |
Het |
| Mnat1 |
A |
G |
12: 73,234,962 (GRCm39) |
R204G |
possibly damaging |
Het |
| Myt1l |
A |
T |
12: 29,877,732 (GRCm39) |
D461V |
unknown |
Het |
| Nek6 |
T |
A |
2: 38,447,858 (GRCm39) |
S41T |
probably damaging |
Het |
| Nudt22 |
T |
C |
19: 6,970,874 (GRCm39) |
E232G |
probably damaging |
Het |
| Numbl |
C |
A |
7: 26,973,415 (GRCm39) |
F192L |
probably damaging |
Het |
| Or4c105 |
C |
T |
2: 88,648,226 (GRCm39) |
T237I |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,899,422 (GRCm39) |
I46K |
probably damaging |
Het |
| P2rx4 |
T |
C |
5: 122,852,467 (GRCm39) |
V47A |
probably damaging |
Het |
| Phka1 |
T |
A |
X: 101,629,710 (GRCm39) |
I478F |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,536,281 (GRCm39) |
T200I |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,593,698 (GRCm39) |
|
probably null |
Het |
| Polg2 |
C |
T |
11: 106,659,239 (GRCm39) |
G425R |
probably damaging |
Het |
| Ptprm |
G |
T |
17: 67,251,327 (GRCm39) |
|
probably null |
Het |
| Reg1 |
G |
A |
6: 78,405,101 (GRCm39) |
R108H |
possibly damaging |
Het |
| Slc19a2 |
T |
A |
1: 164,084,367 (GRCm39) |
F86I |
probably damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,265,603 (GRCm39) |
L372P |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,836,985 (GRCm39) |
V28M |
possibly damaging |
Het |
| Snap29 |
A |
G |
16: 17,224,012 (GRCm39) |
N9S |
probably damaging |
Het |
| Snd1 |
C |
G |
6: 28,545,469 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
G |
A |
19: 48,475,845 (GRCm39) |
A235T |
probably benign |
Het |
| Sp100 |
T |
A |
1: 85,622,002 (GRCm39) |
N362K |
probably damaging |
Het |
| Sqor |
A |
T |
2: 122,641,775 (GRCm39) |
I32F |
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,069,040 (GRCm39) |
R189C |
probably damaging |
Het |
| Tchp |
T |
C |
5: 114,855,514 (GRCm39) |
I298T |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,637,570 (GRCm39) |
I225V |
probably benign |
Het |
| Timm50 |
A |
T |
7: 28,006,366 (GRCm39) |
V245E |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,908,328 (GRCm39) |
E1327G |
probably damaging |
Het |
| Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
| Tradd |
T |
C |
8: 105,987,276 (GRCm39) |
E10G |
possibly damaging |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,729,747 (GRCm39) |
|
probably benign |
Het |
| Ttr |
A |
T |
18: 20,803,034 (GRCm39) |
|
probably null |
Het |
| Ubp1 |
A |
G |
9: 113,773,999 (GRCm39) |
Y66C |
probably damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,897,881 (GRCm39) |
M299L |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,263,166 (GRCm39) |
N98K |
probably damaging |
Het |
| Yipf5 |
A |
G |
18: 40,340,825 (GRCm39) |
S176P |
probably benign |
Het |
| Zpbp2 |
C |
T |
11: 98,444,763 (GRCm39) |
T97I |
probably damaging |
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 |
|
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 |
|
|
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'- TGCTGGAGGGGTTTATTACAGATCACTT -3'
(R):5'- ACTCTGTTAGTCAGTGCTCACTATGGAA -3'
Sequencing Primer
(F):5'- ACAGATCACTTATTAGGACGCTAC -3'
(R):5'- GTCAGTGCTCACTATGGAAACTAC -3'
|
| Posted On |
2014-07-31 |
Incidental Mutation