Incidental Mutation 'R0898:Ccdc154'
| ID |
83767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc154
|
| Ensembl Gene |
ENSMUSG00000059562 |
| Gene Name |
coiled-coil domain containing 154 |
| Synonyms |
ntl, LOC207209 |
| MMRRC Submission |
039058-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R0898 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25381435-25390887 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 25383055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000073002
Gene: ENSMUSG00000059562
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138191
Gene: ENSMUSG00000059562
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138090
Gene: ENSMUSG00000059562
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor1 |
T |
A |
1: 134,351,814 (GRCm39) |
|
probably null |
Het |
| Apmap |
A |
G |
2: 150,427,669 (GRCm39) |
|
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,667,221 (GRCm39) |
N442S |
probably benign |
Het |
| Bpifb5 |
C |
T |
2: 154,075,254 (GRCm39) |
A394V |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,025,964 (GRCm39) |
T346A |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,373,153 (GRCm39) |
|
probably benign |
Het |
| Cpm |
A |
C |
10: 117,512,011 (GRCm39) |
|
probably benign |
Het |
| Crlf2 |
G |
C |
5: 109,705,004 (GRCm39) |
P67R |
probably damaging |
Het |
| Ddx59 |
T |
C |
1: 136,344,679 (GRCm39) |
Y117H |
probably damaging |
Het |
| Fam241b |
A |
G |
10: 61,944,773 (GRCm39) |
F98L |
probably damaging |
Het |
| Fmn2 |
G |
A |
1: 174,331,026 (GRCm39) |
G472E |
unknown |
Het |
| Gcdh |
T |
C |
8: 85,620,189 (GRCm39) |
H41R |
possibly damaging |
Het |
| Gm7713 |
A |
C |
15: 59,866,290 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb1 |
T |
C |
4: 131,962,093 (GRCm39) |
T189A |
probably benign |
Het |
| Iqck |
G |
A |
7: 118,570,664 (GRCm39) |
C272Y |
probably damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
| Map3k1 |
T |
C |
13: 111,904,490 (GRCm39) |
|
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,510,496 (GRCm39) |
I169V |
probably benign |
Het |
| Or14j8 |
T |
C |
17: 38,263,127 (GRCm39) |
T263A |
probably benign |
Het |
| Or8c20 |
G |
A |
9: 38,260,738 (GRCm39) |
V120M |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,026,111 (GRCm39) |
I569V |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,229,063 (GRCm39) |
T1096S |
possibly damaging |
Het |
| Plscr4 |
A |
C |
9: 92,366,806 (GRCm39) |
D140A |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,479,332 (GRCm39) |
D1331G |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,248,864 (GRCm39) |
T498A |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,013,001 (GRCm39) |
L372I |
possibly damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,246,880 (GRCm39) |
N120S |
probably benign |
Het |
| Sbf2 |
C |
T |
7: 109,970,859 (GRCm39) |
V846I |
possibly damaging |
Het |
| Slc16a7 |
A |
G |
10: 125,069,370 (GRCm39) |
I102T |
possibly damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,254,349 (GRCm39) |
T506A |
probably damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,744,075 (GRCm39) |
T462A |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,224 (GRCm39) |
Y395C |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,923,480 (GRCm39) |
T266A |
probably damaging |
Het |
| Tanc1 |
C |
T |
2: 59,621,132 (GRCm39) |
T317I |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,889,719 (GRCm39) |
S71P |
probably damaging |
Het |
| Tpgs2 |
G |
A |
18: 25,282,207 (GRCm39) |
P115S |
probably damaging |
Het |
| Trmt10a |
C |
T |
3: 137,855,279 (GRCm39) |
P139L |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,143,051 (GRCm39) |
S400G |
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 |
|
|
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'- ACAGATTGAACCTGCCTAGCCCTC -3'
(R):5'- GCATTCATGTTACAGGATGCTCCCC -3'
Sequencing Primer
(F):5'- agagagagagaaagagagagagag -3'
(R):5'- GAAGACCTCAGCCTTGCTCTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation