Incidental Mutation 'R5040:Ccdc154'
ID |
393193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc154
|
Ensembl Gene |
ENSMUSG00000059562 |
Gene Name |
coiled-coil domain containing 154 |
Synonyms |
ntl, LOC207209 |
MMRRC Submission |
042630-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R5040 (G1)
|
Quality Score |
211 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25381435-25390887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25383566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 208
(T208S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040729]
[ENSMUST00000073277]
[ENSMUST00000160961]
[ENSMUST00000182292]
[ENSMUST00000182621]
[ENSMUST00000183178]
|
AlphaFold |
Q6RUT8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040729
|
SMART Domains |
Protein: ENSMUSP00000035964 Gene: ENSMUSG00000036636
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
183 |
594 |
1.5e-96 |
PFAM |
CBS
|
632 |
687 |
8.38e-4 |
SMART |
CBS
|
742 |
790 |
1.77e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073277
AA Change: T208S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000073002 Gene: ENSMUSG00000059562 AA Change: T208S
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 |
noncoding transcript
Transcript: ENSMUST00000159426
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160961
|
SMART Domains |
Protein: ENSMUSP00000124194 Gene: ENSMUSG00000036636
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
low complexity region
|
40 |
54 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
163 |
574 |
1.5e-93 |
PFAM |
CBS
|
612 |
667 |
8.38e-4 |
SMART |
CBS
|
722 |
770 |
1.77e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182292
AA Change: T208S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000138191 Gene: ENSMUSG00000059562 AA Change: T208S
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: T208S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000138090 Gene: ENSMUSG00000059562 AA Change: T208S
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,669,578 (GRCm39) |
Q159R |
probably benign |
Het |
Ap2a1 |
T |
C |
7: 44,555,228 (GRCm39) |
I446V |
possibly damaging |
Het |
Areg |
A |
T |
5: 91,292,198 (GRCm39) |
H166L |
possibly damaging |
Het |
Arhgap15 |
T |
C |
2: 43,734,825 (GRCm39) |
|
probably null |
Het |
Arhgef17 |
T |
C |
7: 100,526,032 (GRCm39) |
D874G |
probably benign |
Het |
Cast |
T |
C |
13: 74,872,932 (GRCm39) |
T452A |
probably damaging |
Het |
Chst11 |
T |
A |
10: 83,026,780 (GRCm39) |
L69Q |
probably benign |
Het |
Clec2d |
G |
A |
6: 129,161,793 (GRCm39) |
R142K |
probably damaging |
Het |
Dis3l2 |
A |
T |
1: 86,785,059 (GRCm39) |
I303F |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 6,992,625 (GRCm39) |
Y3979H |
probably benign |
Het |
Ehmt1 |
A |
T |
2: 24,774,316 (GRCm39) |
C162S |
probably benign |
Het |
Eif4g3 |
G |
T |
4: 137,824,200 (GRCm39) |
M239I |
probably damaging |
Het |
Eif5 |
A |
G |
12: 111,506,284 (GRCm39) |
D41G |
probably damaging |
Het |
Elapor1 |
T |
A |
3: 108,382,317 (GRCm39) |
D284V |
probably damaging |
Het |
Fat1 |
C |
T |
8: 45,476,417 (GRCm39) |
A1821V |
probably damaging |
Het |
Fry |
G |
A |
5: 150,312,319 (GRCm39) |
A745T |
probably damaging |
Het |
Galnt9 |
T |
C |
5: 110,765,771 (GRCm39) |
L491P |
probably damaging |
Het |
Gata3 |
A |
G |
2: 9,863,326 (GRCm39) |
L396P |
probably damaging |
Het |
Gyg1 |
A |
G |
3: 20,176,823 (GRCm39) |
|
probably benign |
Het |
Hhip |
C |
A |
8: 80,724,235 (GRCm39) |
V336L |
probably benign |
Het |
Hipk2 |
G |
A |
6: 38,707,816 (GRCm39) |
P660S |
possibly damaging |
Het |
Hnrnpul1 |
G |
A |
7: 25,442,414 (GRCm39) |
T276I |
possibly damaging |
Het |
Ifnl2 |
G |
T |
7: 28,208,511 (GRCm39) |
R147S |
possibly damaging |
Het |
Ilvbl |
A |
G |
10: 78,419,152 (GRCm39) |
D467G |
probably damaging |
Het |
Kcnh1 |
A |
T |
1: 192,187,783 (GRCm39) |
H748L |
probably benign |
Het |
Lyg1 |
A |
C |
1: 37,989,892 (GRCm39) |
|
probably benign |
Het |
Mak |
A |
G |
13: 41,183,574 (GRCm39) |
Y544H |
possibly damaging |
Het |
Med1 |
A |
G |
11: 98,046,230 (GRCm39) |
|
probably benign |
Het |
Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
Myom3 |
T |
C |
4: 135,516,970 (GRCm39) |
S847P |
probably damaging |
Het |
Nprl2 |
T |
G |
9: 107,419,599 (GRCm39) |
C9G |
probably null |
Het |
Or5b125-ps1 |
T |
A |
19: 13,056,307 (GRCm39) |
|
noncoding transcript |
Het |
Pcmtd1 |
T |
C |
1: 7,190,599 (GRCm39) |
Y23H |
probably damaging |
Het |
Pkd1 |
C |
A |
17: 24,790,234 (GRCm39) |
H972Q |
probably benign |
Het |
Rbm26 |
A |
G |
14: 105,358,452 (GRCm39) |
I929T |
probably benign |
Het |
Scrn2 |
A |
G |
11: 96,921,709 (GRCm39) |
T60A |
probably damaging |
Het |
Setdb2 |
A |
T |
14: 59,653,156 (GRCm39) |
I398N |
probably damaging |
Het |
Setx |
A |
G |
2: 29,029,350 (GRCm39) |
E206G |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,859,915 (GRCm39) |
|
probably null |
Het |
Sh3bp4 |
C |
T |
1: 89,071,962 (GRCm39) |
S270L |
probably damaging |
Het |
Stac3 |
T |
C |
10: 127,343,993 (GRCm39) |
I297T |
probably damaging |
Het |
Styxl2 |
G |
A |
1: 165,927,914 (GRCm39) |
T566I |
probably benign |
Het |
Supv3l1 |
A |
T |
10: 62,282,844 (GRCm39) |
V139E |
possibly damaging |
Het |
Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
Tamalin |
G |
A |
15: 101,126,923 (GRCm39) |
V134I |
probably damaging |
Het |
Tcp10c |
T |
A |
17: 13,588,453 (GRCm39) |
M344K |
possibly damaging |
Het |
Tcstv7a |
C |
T |
13: 120,290,025 (GRCm39) |
W57* |
probably null |
Het |
Tmc1 |
A |
G |
19: 20,801,394 (GRCm39) |
V502A |
possibly damaging |
Het |
Tmco4 |
G |
T |
4: 138,747,477 (GRCm39) |
G242V |
probably damaging |
Het |
Trp53bp2 |
G |
A |
1: 182,272,271 (GRCm39) |
R460H |
probably damaging |
Het |
Virma |
T |
A |
4: 11,528,746 (GRCm39) |
C1328S |
probably benign |
Het |
Zfp366 |
A |
G |
13: 99,364,875 (GRCm39) |
D12G |
probably damaging |
Het |
Zfp457 |
C |
T |
13: 67,440,899 (GRCm39) |
A463T |
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 |
|
R0256:Ccdc154
|
UTSW |
17 |
25,389,606 (GRCm39) |
missense |
probably benign |
0.19 |
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 |
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'- ATTTCCATGTGTCACCTGGG -3'
(R):5'- GGCAACCATATCAGACAGGG -3'
Sequencing Primer
(F):5'- CACCTGGGTGGATTGTGTACTCC -3'
(R):5'- GTGAGCCTATCCTTGTACCCTGAAG -3'
|
Posted On |
2016-06-15 |