Incidental Mutation 'R6704:Ccdc152'
| ID |
528874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc152
|
| Ensembl Gene |
ENSMUSG00000091119 |
| Gene Name |
coiled-coil domain containing 152 |
| Synonyms |
ENSMUSG00000071814 |
| MMRRC Submission |
044822-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R6704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
3309552-3333008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3310195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 227
(I227F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082424]
[ENSMUST00000159158]
[ENSMUST00000159216]
[ENSMUST00000160787]
[ENSMUST00000160930]
[ENSMUST00000165386]
[ENSMUST00000226261]
[ENSMUST00000228405]
|
| AlphaFold |
E9PX14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082424
|
| SMART Domains |
Protein: ENSMUSP00000081004
Gene: ENSMUSG00000064373
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:SelP_N
|
22 |
248 |
5.4e-119 |
PFAM |
|
Pfam:SelP_C
|
249 |
380 |
2.6e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159158
|
| SMART Domains |
Protein: ENSMUSP00000125632
Gene: ENSMUSG00000064373
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:SelP_N
|
22 |
124 |
5.4e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159216
|
| SMART Domains |
Protein: ENSMUSP00000124305
Gene: ENSMUSG00000064373
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:SelP_N
|
23 |
268 |
9.3e-108 |
PFAM |
|
Pfam:SelP_C
|
249 |
380 |
4.9e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160787
|
| SMART Domains |
Protein: ENSMUSP00000124852
Gene: ENSMUSG00000064373
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:SelP_N
|
22 |
139 |
1.6e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160930
|
| SMART Domains |
Protein: ENSMUSP00000125505
Gene: ENSMUSG00000064373
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:SelP_N
|
22 |
177 |
1.9e-96 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165386
AA Change: I227F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129305
Gene: ENSMUSG00000091119
AA Change: I227F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
76 |
186 |
N/A |
INTRINSIC |
|
coiled coil region
|
211 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226261
AA Change: I227F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228405
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
T |
C |
12: 8,060,379 (GRCm39) |
S2921P |
probably damaging |
Het |
| Asxl3 |
G |
A |
18: 22,650,362 (GRCm39) |
A784T |
probably benign |
Het |
| Atm |
T |
C |
9: 53,370,153 (GRCm39) |
I2320V |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,587,357 (GRCm39) |
V675A |
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,386,892 (GRCm39) |
Y235H |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,889,652 (GRCm39) |
D705G |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermn |
T |
C |
2: 57,938,046 (GRCm39) |
D189G |
possibly damaging |
Het |
| Evx2 |
C |
A |
2: 74,486,499 (GRCm39) |
A297S |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,477,410 (GRCm39) |
F2152S |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,990,642 (GRCm39) |
V1018A |
unknown |
Het |
| Hyou1 |
T |
C |
9: 44,292,431 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
G |
A |
14: 24,052,882 (GRCm39) |
Q187* |
probably null |
Het |
| Macf1 |
C |
T |
4: 123,304,555 (GRCm39) |
|
probably benign |
Het |
| Mcam |
T |
A |
9: 44,048,217 (GRCm39) |
D124E |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,986,761 (GRCm39) |
|
probably benign |
Het |
| Mlxipl |
A |
T |
5: 135,166,094 (GRCm39) |
|
probably null |
Het |
| Myt1 |
A |
G |
2: 181,453,005 (GRCm39) |
M1V |
probably null |
Het |
| Nlrc3 |
C |
T |
16: 3,782,945 (GRCm39) |
V155I |
probably damaging |
Het |
| Nlrp2 |
A |
C |
7: 5,328,040 (GRCm39) |
L671* |
probably null |
Het |
| Omd |
A |
G |
13: 49,743,349 (GRCm39) |
D133G |
probably damaging |
Het |
| Or5h19 |
T |
C |
16: 58,856,225 (GRCm39) |
R292G |
probably damaging |
Het |
| Or9r7 |
T |
A |
10: 129,962,024 (GRCm39) |
K301* |
probably null |
Het |
| Pappa |
G |
A |
4: 65,123,161 (GRCm39) |
C832Y |
probably damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,736,515 (GRCm39) |
V174E |
possibly damaging |
Het |
| Pfkl |
C |
T |
10: 77,832,200 (GRCm39) |
G297D |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,511,910 (GRCm39) |
L882P |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,627,931 (GRCm39) |
T131A |
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,589,745 (GRCm39) |
N152S |
probably damaging |
Het |
| Ruvbl1 |
T |
A |
6: 88,456,187 (GRCm39) |
M147K |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,479,856 (GRCm39) |
I277N |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,545,255 (GRCm39) |
V337A |
probably damaging |
Het |
| Tmem131 |
A |
G |
1: 36,835,261 (GRCm39) |
V1620A |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,282,259 (GRCm39) |
E248G |
possibly damaging |
Het |
| Ugt2b36 |
C |
A |
5: 87,239,990 (GRCm39) |
V132F |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,621,035 (GRCm39) |
E212G |
probably damaging |
Het |
| Zc2hc1c |
A |
T |
12: 85,337,258 (GRCm39) |
Q305L |
possibly damaging |
Het |
|
| Other mutations in Ccdc152 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01466:Ccdc152
|
APN |
15 |
3,323,329 (GRCm39) |
splice site |
probably benign |
|
|
IGL01543:Ccdc152
|
APN |
15 |
3,327,606 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0622:Ccdc152
|
UTSW |
15 |
3,327,660 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1605:Ccdc152
|
UTSW |
15 |
3,327,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2875:Ccdc152
|
UTSW |
15 |
3,327,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2876:Ccdc152
|
UTSW |
15 |
3,327,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:Ccdc152
|
UTSW |
15 |
3,330,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5114:Ccdc152
|
UTSW |
15 |
3,312,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5732:Ccdc152
|
UTSW |
15 |
3,321,860 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6336:Ccdc152
|
UTSW |
15 |
3,330,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Ccdc152
|
UTSW |
15 |
3,310,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Ccdc152
|
UTSW |
15 |
3,327,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9061:Ccdc152
|
UTSW |
15 |
3,330,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGTGGCTACAGTACACACTTATC -3'
(R):5'- AAATGAGAGGGCAGGCCTTTC -3'
Sequencing Primer
(F):5'- ATTGTTCAGCATGCTCACATTG -3'
(R):5'- CAGGCCTTTCAGAGTAAGCTAGTC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation