Incidental Mutation 'R2377:Ccdc38'
| ID |
248322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc38
|
| Ensembl Gene |
ENSMUSG00000036168 |
| Gene Name |
coiled-coil domain containing 38 |
| Synonyms |
4933417K05Rik |
| MMRRC Submission |
040354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R2377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
93376494-93420189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93409897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 239
(P239S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092215]
[ENSMUST00000132214]
|
| AlphaFold |
Q8CDN8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092215
AA Change: P339S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089860
Gene: ENSMUSG00000036168
AA Change: P339S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4200
|
112 |
230 |
4.4e-28 |
PFAM |
|
low complexity region
|
280 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
333 |
N/A |
INTRINSIC |
|
coiled coil region
|
388 |
412 |
N/A |
INTRINSIC |
|
coiled coil region
|
479 |
522 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128786
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132214
AA Change: P239S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,285,787 (GRCm39) |
D1304G |
probably damaging |
Het |
| Adamts10 |
C |
A |
17: 33,747,866 (GRCm39) |
H101N |
probably damaging |
Het |
| Apaf1 |
T |
A |
10: 90,915,755 (GRCm39) |
K44N |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,971,421 (GRCm39) |
N471K |
possibly damaging |
Het |
| Blvrb |
T |
A |
7: 27,159,024 (GRCm39) |
I94N |
probably damaging |
Het |
| Chst4 |
T |
A |
8: 110,756,804 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Col5a1 |
T |
C |
2: 27,818,189 (GRCm39) |
F138S |
unknown |
Het |
| Dhx32 |
G |
T |
7: 133,326,207 (GRCm39) |
H407N |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,773,090 (GRCm39) |
P388S |
probably damaging |
Het |
| Fbxo10 |
A |
C |
4: 45,044,719 (GRCm39) |
Y639D |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,806,593 (GRCm39) |
T971A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,764,855 (GRCm39) |
A1099T |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,795,318 (GRCm39) |
L317F |
probably damaging |
Het |
| Ice1 |
G |
A |
13: 70,750,899 (GRCm39) |
A1729V |
probably damaging |
Het |
| Mcc |
C |
G |
18: 44,652,616 (GRCm39) |
K269N |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,274,002 (GRCm39) |
C83* |
probably null |
Het |
| Msl1 |
A |
G |
11: 98,694,789 (GRCm39) |
R273G |
probably damaging |
Het |
| Msl3l2 |
T |
C |
10: 55,991,659 (GRCm39) |
I128T |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,698,714 (GRCm39) |
D109V |
possibly damaging |
Het |
| Or14j5 |
A |
G |
17: 38,161,498 (GRCm39) |
N5S |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,083,255 (GRCm39) |
F26L |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,774,988 (GRCm39) |
L271Q |
probably damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,217 (GRCm39) |
Y309F |
possibly damaging |
Het |
| Pcmtd2 |
A |
G |
2: 181,497,072 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,949,810 (GRCm39) |
|
probably null |
Het |
| Ptk2b |
T |
A |
14: 66,409,997 (GRCm39) |
I452F |
possibly damaging |
Het |
| Rad21 |
A |
G |
15: 51,831,834 (GRCm39) |
F416L |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,368,793 (GRCm39) |
I244N |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Tnpo3 |
A |
C |
6: 29,579,618 (GRCm39) |
N258K |
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,272,229 (GRCm39) |
D789G |
possibly damaging |
Het |
| Vmn1r226 |
T |
G |
17: 20,907,992 (GRCm39) |
L75V |
probably benign |
Het |
| Zfp729b |
A |
C |
13: 67,739,820 (GRCm39) |
V815G |
possibly damaging |
Het |
|
| Other mutations in Ccdc38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Ccdc38
|
APN |
10 |
93,405,797 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01986:Ccdc38
|
APN |
10 |
93,415,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02396:Ccdc38
|
APN |
10 |
93,409,994 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02568:Ccdc38
|
APN |
10 |
93,415,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU23:Ccdc38
|
UTSW |
10 |
93,405,797 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0004:Ccdc38
|
UTSW |
10 |
93,409,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Ccdc38
|
UTSW |
10 |
93,401,774 (GRCm39) |
nonsense |
probably null |
|
|
R0371:Ccdc38
|
UTSW |
10 |
93,398,674 (GRCm39) |
nonsense |
probably null |
|
|
R1374:Ccdc38
|
UTSW |
10 |
93,418,296 (GRCm39) |
splice site |
probably benign |
|
|
R1388:Ccdc38
|
UTSW |
10 |
93,417,702 (GRCm39) |
splice site |
probably benign |
|
|
R1546:Ccdc38
|
UTSW |
10 |
93,401,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2419:Ccdc38
|
UTSW |
10 |
93,384,837 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3949:Ccdc38
|
UTSW |
10 |
93,386,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5592:Ccdc38
|
UTSW |
10 |
93,386,064 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5652:Ccdc38
|
UTSW |
10 |
93,391,448 (GRCm39) |
splice site |
probably null |
|
|
R5857:Ccdc38
|
UTSW |
10 |
93,398,695 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5918:Ccdc38
|
UTSW |
10 |
93,406,748 (GRCm39) |
nonsense |
probably null |
|
|
R5919:Ccdc38
|
UTSW |
10 |
93,414,700 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6057:Ccdc38
|
UTSW |
10 |
93,417,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6293:Ccdc38
|
UTSW |
10 |
93,398,659 (GRCm39) |
nonsense |
probably null |
|
|
R7511:Ccdc38
|
UTSW |
10 |
93,398,662 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8006:Ccdc38
|
UTSW |
10 |
93,391,448 (GRCm39) |
splice site |
probably null |
|
|
R8206:Ccdc38
|
UTSW |
10 |
93,399,146 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8313:Ccdc38
|
UTSW |
10 |
93,399,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8904:Ccdc38
|
UTSW |
10 |
93,411,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9061:Ccdc38
|
UTSW |
10 |
93,401,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ccdc38
|
UTSW |
10 |
93,398,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCAGACCTTGTGACATC -3'
(R):5'- CCATCATGAGTGGTTGGATATGGTC -3'
Sequencing Primer
(F):5'- ACCTTGTGACATCTGCAGAG -3'
(R):5'- CTCTGCTTAGTGACTGTTGAATAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation