Incidental Mutation 'R2317:Ccdc102a'
| ID |
245524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc102a
|
| Ensembl Gene |
ENSMUSG00000063605 |
| Gene Name |
coiled-coil domain containing 102A |
| Synonyms |
LOC234582 |
| MMRRC Submission |
040312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R2317 (G1)
|
| Quality Score |
173 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95629497-95644726 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95634957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 327
(D327G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077955]
|
| AlphaFold |
Q3TMW1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077955
AA Change: D327G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077107
Gene: ENSMUSG00000063605
AA Change: D327G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
87 |
N/A |
INTRINSIC |
|
coiled coil region
|
101 |
160 |
N/A |
INTRINSIC |
|
Pfam:Myosin_tail_1
|
311 |
508 |
8e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1) |
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 170,953,700 (GRCm39) |
D134G |
possibly damaging |
Het |
| Cript |
T |
C |
17: 87,335,139 (GRCm39) |
L19P |
probably benign |
Het |
| Cwf19l1 |
A |
C |
19: 44,120,597 (GRCm39) |
L39V |
possibly damaging |
Het |
| Eif2b4 |
T |
C |
5: 31,348,920 (GRCm39) |
|
probably null |
Het |
| Esp16 |
A |
G |
17: 39,850,738 (GRCm39) |
N39S |
probably benign |
Het |
| Fbxo30 |
A |
G |
10: 11,166,078 (GRCm39) |
N267D |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,208,607 (GRCm39) |
|
probably null |
Het |
| Gp1ba |
A |
G |
11: 70,531,473 (GRCm39) |
|
probably benign |
Het |
| Klf12 |
C |
T |
14: 100,179,503 (GRCm39) |
R279Q |
probably benign |
Het |
| Lats1 |
C |
T |
10: 7,567,540 (GRCm39) |
Q104* |
probably null |
Het |
| Myrfl |
A |
G |
10: 116,675,289 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,325,189 (GRCm39) |
I963T |
probably damaging |
Het |
| Neurod6 |
A |
G |
6: 55,655,906 (GRCm39) |
Y244H |
probably damaging |
Het |
| Nodal |
T |
C |
10: 61,254,212 (GRCm39) |
M45T |
possibly damaging |
Het |
| Nuggc |
A |
G |
14: 65,861,591 (GRCm39) |
E479G |
possibly damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,501,842 (GRCm39) |
D467G |
probably benign |
Het |
| Pnmt |
C |
A |
11: 98,277,677 (GRCm39) |
Q74K |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,961,235 (GRCm39) |
T267I |
probably damaging |
Het |
| Slc35e3 |
A |
G |
10: 117,580,804 (GRCm39) |
S167P |
probably damaging |
Het |
| Sprr2f |
C |
A |
3: 92,273,390 (GRCm39) |
P63H |
unknown |
Het |
| Stt3a |
T |
C |
9: 36,659,371 (GRCm39) |
I323V |
probably benign |
Het |
| Tedc2 |
A |
G |
17: 24,435,358 (GRCm39) |
S344P |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,245,514 (GRCm39) |
D3722G |
probably damaging |
Het |
| Zfp35 |
T |
C |
18: 24,136,555 (GRCm39) |
Y300H |
probably damaging |
Het |
| Zfp959 |
A |
G |
17: 56,204,326 (GRCm39) |
D121G |
possibly damaging |
Het |
|
| Other mutations in Ccdc102a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Ccdc102a
|
APN |
8 |
95,638,266 (GRCm39) |
splice site |
probably null |
|
|
IGL01921:Ccdc102a
|
APN |
8 |
95,640,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02961:Ccdc102a
|
APN |
8 |
95,629,978 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0413:Ccdc102a
|
UTSW |
8 |
95,629,914 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0423:Ccdc102a
|
UTSW |
8 |
95,632,554 (GRCm39) |
splice site |
probably benign |
|
|
R0437:Ccdc102a
|
UTSW |
8 |
95,640,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Ccdc102a
|
UTSW |
8 |
95,632,714 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1468:Ccdc102a
|
UTSW |
8 |
95,632,714 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1540:Ccdc102a
|
UTSW |
8 |
95,634,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1893:Ccdc102a
|
UTSW |
8 |
95,640,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4280:Ccdc102a
|
UTSW |
8 |
95,634,444 (GRCm39) |
nonsense |
probably null |
|
|
R6115:Ccdc102a
|
UTSW |
8 |
95,629,999 (GRCm39) |
missense |
probably benign |
|
|
R6331:Ccdc102a
|
UTSW |
8 |
95,638,144 (GRCm39) |
missense |
probably benign |
|
|
R6650:Ccdc102a
|
UTSW |
8 |
95,639,892 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7019:Ccdc102a
|
UTSW |
8 |
95,636,431 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7302:Ccdc102a
|
UTSW |
8 |
95,640,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Ccdc102a
|
UTSW |
8 |
95,629,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7949:Ccdc102a
|
UTSW |
8 |
95,631,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7995:Ccdc102a
|
UTSW |
8 |
95,634,495 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8166:Ccdc102a
|
UTSW |
8 |
95,639,944 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8537:Ccdc102a
|
UTSW |
8 |
95,632,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9179:Ccdc102a
|
UTSW |
8 |
95,639,748 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9297:Ccdc102a
|
UTSW |
8 |
95,638,120 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9599:Ccdc102a
|
UTSW |
8 |
95,639,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCTATAATTATGCCGGGC -3'
(R):5'- TCGAGGCACCAAGAACTCTC -3'
Sequencing Primer
(F):5'- AAAGGGGGTGCCTCCTG -3'
(R):5'- GAACTCTCAGAGGAGCCTACTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation