Incidental Mutation 'R0256:Ccdc154'
| ID |
34759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc154
|
| Ensembl Gene |
ENSMUSG00000059562 |
| Gene Name |
coiled-coil domain containing 154 |
| Synonyms |
ntl, LOC207209 |
| MMRRC Submission |
038487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R0256 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25381435-25390887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25389606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 490
(A490V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073277]
[ENSMUST00000182292]
[ENSMUST00000182621]
[ENSMUST00000183178]
[ENSMUST00000224277]
|
| AlphaFold |
Q6RUT8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073277
AA Change: A499V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073002
Gene: ENSMUSG00000059562
AA Change: A499V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
|
Pfam:DUF4631
|
48 |
578 |
1.4e-263 |
PFAM |
|
low complexity region
|
631 |
642 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182292
AA Change: A490V
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138191
Gene: ENSMUSG00000059562
AA Change: A490V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
|
Pfam:DUF4631
|
47 |
571 |
1.3e-250 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182621
AA Change: A492V
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138090
Gene: ENSMUSG00000059562
AA Change: A492V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
|
Pfam:DUF4631
|
47 |
573 |
2.9e-252 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183178
|
| SMART Domains |
Protein: ENSMUSP00000138659
Gene: ENSMUSG00000059562
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224277
|
| Meta Mutation Damage Score |
0.1105 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.6%
- 10x: 95.8%
- 20x: 92.8%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
T |
10: 29,098,252 (GRCm39) |
L186F |
probably damaging |
Het |
| Abce1 |
A |
C |
8: 80,412,572 (GRCm39) |
|
probably null |
Het |
| Acvrl1 |
A |
T |
15: 101,035,002 (GRCm39) |
N254Y |
probably damaging |
Het |
| Apip |
T |
A |
2: 102,918,916 (GRCm39) |
M72K |
possibly damaging |
Het |
| Arg1 |
A |
G |
10: 24,792,356 (GRCm39) |
Y188H |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,274,027 (GRCm39) |
N354Y |
probably damaging |
Het |
| Arrdc5 |
A |
G |
17: 56,601,382 (GRCm39) |
F248L |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,302,576 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
G |
T |
3: 36,971,922 (GRCm39) |
V552L |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,053,868 (GRCm39) |
|
probably benign |
Het |
| Chmp2b |
G |
T |
16: 65,337,078 (GRCm39) |
T193K |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,436,640 (GRCm39) |
N814K |
probably damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,916,098 (GRCm39) |
L576P |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,213,624 (GRCm39) |
H104R |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,439,436 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
T |
A |
11: 99,683,542 (GRCm39) |
T193S |
unknown |
Het |
| Gm15217 |
A |
T |
14: 46,617,853 (GRCm39) |
|
probably benign |
Het |
| Hic2 |
A |
G |
16: 17,075,377 (GRCm39) |
I69V |
probably benign |
Het |
| Ivl |
T |
C |
3: 92,479,150 (GRCm39) |
D305G |
probably damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,725,472 (GRCm39) |
T323A |
probably damaging |
Het |
| Krt7 |
C |
T |
15: 101,321,190 (GRCm39) |
Q336* |
probably null |
Het |
| Krt73 |
T |
G |
15: 101,710,371 (GRCm39) |
D121A |
probably damaging |
Het |
| Mok |
T |
C |
12: 110,774,539 (GRCm39) |
D216G |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,175,539 (GRCm39) |
C44R |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,395,132 (GRCm39) |
Y46C |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,396,995 (GRCm39) |
F223L |
unknown |
Het |
| Noct |
A |
G |
3: 51,157,895 (GRCm39) |
D411G |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5j1 |
T |
C |
2: 86,879,400 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,906 (GRCm39) |
D173V |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,393,062 (GRCm39) |
H36R |
probably damaging |
Het |
| Plscr3 |
A |
G |
11: 69,740,880 (GRCm39) |
K239E |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,780,330 (GRCm39) |
D445G |
probably benign |
Het |
| Ramp1 |
A |
T |
1: 91,124,641 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,266,942 (GRCm39) |
H214Q |
probably benign |
Het |
| Selenbp2 |
A |
T |
3: 94,607,008 (GRCm39) |
H156L |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,721,314 (GRCm39) |
T284A |
probably benign |
Het |
| Slc35a1 |
T |
C |
4: 34,668,962 (GRCm39) |
T284A |
probably benign |
Het |
| Smco2 |
A |
T |
6: 146,763,244 (GRCm39) |
I184F |
probably damaging |
Het |
| Son |
A |
G |
16: 91,453,472 (GRCm39) |
M740V |
possibly damaging |
Het |
| Stil |
T |
A |
4: 114,880,882 (GRCm39) |
N475K |
possibly damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,839 (GRCm39) |
D122G |
probably damaging |
Het |
| Tnks |
A |
G |
8: 35,328,701 (GRCm39) |
M623T |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,617,317 (GRCm39) |
V235A |
probably benign |
Het |
| Zfp423 |
A |
T |
8: 88,500,262 (GRCm39) |
C1053* |
probably null |
Het |
| Zfp648 |
T |
A |
1: 154,081,414 (GRCm39) |
D524E |
probably benign |
Het |
|
| Other mutations in Ccdc154 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02117:Ccdc154
|
APN |
17 |
25,386,792 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02427:Ccdc154
|
APN |
17 |
25,390,731 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03188:Ccdc154
|
APN |
17 |
25,383,067 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0328:Ccdc154
|
UTSW |
17 |
25,390,779 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0583:Ccdc154
|
UTSW |
17 |
25,387,398 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0671:Ccdc154
|
UTSW |
17 |
25,386,259 (GRCm39) |
splice site |
probably benign |
|
|
R0898:Ccdc154
|
UTSW |
17 |
25,383,055 (GRCm39) |
splice site |
probably benign |
|
|
R1758:Ccdc154
|
UTSW |
17 |
25,382,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2165:Ccdc154
|
UTSW |
17 |
25,389,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Ccdc154
|
UTSW |
17 |
25,389,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Ccdc154
|
UTSW |
17 |
25,382,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4853:Ccdc154
|
UTSW |
17 |
25,389,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:Ccdc154
|
UTSW |
17 |
25,389,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Ccdc154
|
UTSW |
17 |
25,389,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Ccdc154
|
UTSW |
17 |
25,383,566 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5153:Ccdc154
|
UTSW |
17 |
25,387,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5179:Ccdc154
|
UTSW |
17 |
25,390,137 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5709:Ccdc154
|
UTSW |
17 |
25,389,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5852:Ccdc154
|
UTSW |
17 |
25,382,183 (GRCm39) |
missense |
probably benign |
|
|
R5886:Ccdc154
|
UTSW |
17 |
25,390,792 (GRCm39) |
missense |
probably benign |
|
|
R6191:Ccdc154
|
UTSW |
17 |
25,386,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Ccdc154
|
UTSW |
17 |
25,382,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7888:Ccdc154
|
UTSW |
17 |
25,383,578 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7896:Ccdc154
|
UTSW |
17 |
25,390,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8331:Ccdc154
|
UTSW |
17 |
25,386,927 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8334:Ccdc154
|
UTSW |
17 |
25,390,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8845:Ccdc154
|
UTSW |
17 |
25,390,138 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8880:Ccdc154
|
UTSW |
17 |
25,389,129 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9040:Ccdc154
|
UTSW |
17 |
25,382,793 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9153:Ccdc154
|
UTSW |
17 |
25,382,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9262:Ccdc154
|
UTSW |
17 |
25,389,160 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9564:Ccdc154
|
UTSW |
17 |
25,387,381 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9621:Ccdc154
|
UTSW |
17 |
25,386,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9654:Ccdc154
|
UTSW |
17 |
25,386,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACCCTGGGCTCCTACATATTC -3'
(R):5'- AGCTCTTGTCGCACAGTCTCAACC -3'
Sequencing Primer
(F):5'- gctgtcttcagacgcacc -3'
(R):5'- CCCAAGGAAGAGGCTGTCAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation