Incidental Mutation 'R4365:Ccdc153'
| ID |
325707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc153
|
| Ensembl Gene |
ENSMUSG00000070306 |
| Gene Name |
coiled-coil domain containing 153 |
| Synonyms |
|
| MMRRC Submission |
041113-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4365 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44151961-44158240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44154889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 71
(A71T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034618]
[ENSMUST00000092426]
[ENSMUST00000213891]
[ENSMUST00000215554]
[ENSMUST00000215711]
[ENSMUST00000216632]
[ENSMUST00000217221]
[ENSMUST00000217510]
|
| AlphaFold |
P0C7Q1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034618
|
| SMART Domains |
Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
PDZ
|
58 |
130 |
2.04e-15 |
SMART |
|
PDZ
|
165 |
235 |
2.93e-7 |
SMART |
|
PDZ
|
271 |
346 |
2.47e-14 |
SMART |
|
PDZ
|
403 |
475 |
1.4e-13 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092426
AA Change: A93T
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090082
Gene: ENSMUSG00000070306
AA Change: A93T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
coiled coil region
|
26 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213891
AA Change: A93T
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215554
AA Change: A38T
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215711
AA Change: A56T
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216047
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216632
AA Change: A71T
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217221
AA Change: A71T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217510
AA Change: A93T
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216995
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
A |
T |
12: 8,066,083 (GRCm39) |
I4318F |
possibly damaging |
Het |
| Btrc |
G |
A |
19: 45,501,919 (GRCm39) |
D213N |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,953,717 (GRCm39) |
I964F |
possibly damaging |
Het |
| Cacna1f |
G |
T |
X: 7,476,213 (GRCm39) |
A123S |
probably damaging |
Het |
| Celsr3 |
C |
A |
9: 108,707,046 (GRCm39) |
D1176E |
possibly damaging |
Het |
| Cfap46 |
A |
C |
7: 139,230,868 (GRCm39) |
V920G |
probably damaging |
Het |
| Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
| Dnajb12 |
T |
C |
10: 59,715,588 (GRCm39) |
F30S |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,406 (GRCm39) |
R401G |
probably benign |
Het |
| F5 |
A |
G |
1: 164,012,519 (GRCm39) |
T478A |
probably damaging |
Het |
| Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
| Il1rl2 |
G |
T |
1: 40,390,951 (GRCm39) |
R298L |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,699,108 (GRCm39) |
S307R |
probably damaging |
Het |
| Lrit2 |
T |
A |
14: 36,794,076 (GRCm39) |
L380Q |
probably damaging |
Het |
| Ncan |
A |
G |
8: 70,567,861 (GRCm39) |
S84P |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,250,771 (GRCm39) |
I304V |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,772 (GRCm39) |
D16G |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,186,377 (GRCm39) |
D397G |
probably benign |
Het |
| Obsl1 |
A |
C |
1: 75,464,693 (GRCm39) |
L1576R |
possibly damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,313 (GRCm39) |
I71F |
probably benign |
Het |
| Or5v1 |
T |
C |
17: 37,810,270 (GRCm39) |
S243P |
probably damaging |
Het |
| Or6c212 |
A |
G |
10: 129,559,281 (GRCm39) |
I44T |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,685,726 (GRCm39) |
E731G |
probably damaging |
Het |
| Rag1 |
T |
A |
2: 101,473,288 (GRCm39) |
K618M |
probably damaging |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,590,744 (GRCm39) |
K36E |
probably benign |
Het |
| S100a9 |
T |
C |
3: 90,600,081 (GRCm39) |
H105R |
unknown |
Het |
| Spindoc |
T |
C |
19: 7,351,219 (GRCm39) |
D246G |
possibly damaging |
Het |
| St8sia4 |
A |
T |
1: 95,519,517 (GRCm39) |
Y324N |
possibly damaging |
Het |
| Tlr11 |
T |
A |
14: 50,598,926 (GRCm39) |
I304N |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,955,694 (GRCm39) |
T1090A |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,871,379 (GRCm39) |
N7D |
probably damaging |
Het |
|
| Other mutations in Ccdc153 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01745:Ccdc153
|
APN |
9 |
44,154,408 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02800:Ccdc153
|
APN |
9 |
44,157,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1378:Ccdc153
|
UTSW |
9 |
44,154,958 (GRCm39) |
missense |
probably null |
1.00 |
|
R2228:Ccdc153
|
UTSW |
9 |
44,154,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Ccdc153
|
UTSW |
9 |
44,157,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4726:Ccdc153
|
UTSW |
9 |
44,154,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4876:Ccdc153
|
UTSW |
9 |
44,152,305 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R5318:Ccdc153
|
UTSW |
9 |
44,157,062 (GRCm39) |
nonsense |
probably null |
|
|
R6416:Ccdc153
|
UTSW |
9 |
44,157,077 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9464:Ccdc153
|
UTSW |
9 |
44,157,011 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9472:Ccdc153
|
UTSW |
9 |
44,154,923 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTTTGGGAGTAAGTGGG -3'
(R):5'- GCCAACAGACTGTAGACATCTAG -3'
Sequencing Primer
(F):5'- CCCCCTAAACAGATATGGGGG -3'
(R):5'- CTGTAGACATCTAGAGGAGAGCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation