Incidental Mutation 'R5852:Ccdc154'
| ID |
454734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc154
|
| Ensembl Gene |
ENSMUSG00000059562 |
| Gene Name |
coiled-coil domain containing 154 |
| Synonyms |
ntl, LOC207209 |
| MMRRC Submission |
043227-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R5852 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25381435-25390887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25382183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 34
(V34A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138659
(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: V34A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073002
Gene: ENSMUSG00000059562
AA Change: V34A
| 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: V34A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138191
Gene: ENSMUSG00000059562
AA Change: V34A
| 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: V34A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138090
Gene: ENSMUSG00000059562
AA Change: V34A
| 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
AA Change: V34A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138659
Gene: ENSMUSG00000059562
AA Change: V34A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,891,139 (GRCm39) |
I453F |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,720 (GRCm39) |
W402* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,070,134 (GRCm39) |
S134P |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,397,377 (GRCm39) |
N65K |
probably damaging |
Het |
| Cntn6 |
G |
T |
6: 104,812,706 (GRCm39) |
V663F |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,536,711 (GRCm39) |
C201* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,344,955 (GRCm39) |
W2100R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,011,290 (GRCm39) |
S3634R |
probably benign |
Het |
| Entrep2 |
T |
A |
7: 64,425,579 (GRCm39) |
H171L |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,865,460 (GRCm39) |
F645L |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 120,106,738 (GRCm39) |
R382L |
probably damaging |
Het |
| Il27 |
T |
A |
7: 126,191,786 (GRCm39) |
T89S |
possibly damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Klhl23 |
T |
A |
2: 69,654,613 (GRCm39) |
I161N |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,640,152 (GRCm39) |
E1566K |
probably damaging |
Het |
| Mia3 |
A |
G |
1: 183,113,713 (GRCm39) |
V437A |
probably benign |
Het |
| Ncoa6 |
G |
T |
2: 155,247,419 (GRCm39) |
H1962N |
possibly damaging |
Het |
| Nox4 |
C |
T |
7: 86,988,172 (GRCm39) |
T361I |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,544,584 (GRCm39) |
Y1748C |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,369 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,447,632 (GRCm39) |
F2254L |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,935,518 (GRCm39) |
Y1018C |
probably damaging |
Het |
| Pnoc |
C |
T |
14: 65,648,671 (GRCm39) |
V8I |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,408 (GRCm39) |
D256G |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,161,349 (GRCm39) |
F312L |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,339 (GRCm39) |
E239G |
possibly damaging |
Het |
| Tti1 |
A |
G |
2: 157,842,593 (GRCm39) |
L812P |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,694,518 (GRCm39) |
S62P |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,346,487 (GRCm39) |
S1659P |
probably damaging |
Het |
| Zng1 |
A |
G |
19: 24,932,769 (GRCm39) |
V88A |
possibly damaging |
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 |
|
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 |
|
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'- AGAGATATGAGTCCCTGAGGTCAG -3'
(R):5'- TTGTGTCCCCTCAGACGAAC -3'
Sequencing Primer
(F):5'- GTCAGGGTGACAGCAAGC -3'
(R):5'- CCTGATTAGGGCCAGAGCAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation