Incidental Mutation 'IGL01986:Ccdc38'
| ID |
181922 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc38
|
| Ensembl Gene |
ENSMUSG00000036168 |
| Gene Name |
coiled-coil domain containing 38 |
| Synonyms |
4933417K05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
IGL01986
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
93376494-93420189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93415705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 415
(N415Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020203]
[ENSMUST00000092215]
[ENSMUST00000132214]
|
| AlphaFold |
Q8CDN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020203
|
| SMART Domains |
Protein: ENSMUSP00000020203
Gene: ENSMUSG00000020018
| Domain | Start | End | E-Value | Type |
|---|
|
Sm
|
9 |
74 |
6.54e-25 |
SMART |
|
low complexity region
|
76 |
86 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092215
AA Change: N454Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000089860
Gene: ENSMUSG00000036168
AA Change: N454Y
| 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 |
probably damaging
Transcript: ENSMUST00000132214
AA Change: N415Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
T |
2: 152,282,956 (GRCm39) |
I245F |
possibly damaging |
Het |
| Abca3 |
G |
A |
17: 24,627,088 (GRCm39) |
G1263D |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,779,265 (GRCm39) |
S1442T |
probably damaging |
Het |
| Arl15 |
C |
A |
13: 114,058,902 (GRCm39) |
S56R |
possibly damaging |
Het |
| Ccny |
G |
A |
18: 9,377,817 (GRCm39) |
R81C |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,006,457 (GRCm39) |
S939R |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,522,591 (GRCm39) |
T2693A |
possibly damaging |
Het |
| Fancm |
C |
T |
12: 65,173,429 (GRCm39) |
Q1914* |
probably null |
Het |
| Fcsk |
T |
C |
8: 111,609,889 (GRCm39) |
T1042A |
probably benign |
Het |
| Gm18856 |
G |
A |
13: 14,139,413 (GRCm39) |
|
probably benign |
Het |
| Gramd1a |
A |
T |
7: 30,833,434 (GRCm39) |
L610Q |
possibly damaging |
Het |
| Hsd17b4 |
C |
A |
18: 50,293,193 (GRCm39) |
|
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,787,834 (GRCm39) |
S663P |
probably benign |
Het |
| Insr |
C |
T |
8: 3,208,817 (GRCm39) |
V1215I |
probably damaging |
Het |
| Kdr |
A |
G |
5: 76,113,519 (GRCm39) |
V783A |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,640,016 (GRCm39) |
D75G |
probably damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,365,533 (GRCm39) |
S53P |
probably damaging |
Het |
| Lrrc41 |
T |
A |
4: 115,946,519 (GRCm39) |
F411L |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,950,212 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
G |
5: 129,673,692 (GRCm39) |
H257R |
probably damaging |
Het |
| Nkiras1 |
G |
A |
14: 18,280,071 (GRCm38) |
R154Q |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,880 (GRCm39) |
I163V |
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,957 (GRCm39) |
K307R |
probably damaging |
Het |
| Or4p21 |
C |
T |
2: 88,276,839 (GRCm39) |
V148I |
probably benign |
Het |
| Or8s16 |
T |
C |
15: 98,210,660 (GRCm39) |
Y257C |
probably damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,577,625 (GRCm39) |
R60H |
probably damaging |
Het |
| Polk |
T |
C |
13: 96,620,331 (GRCm39) |
D623G |
probably benign |
Het |
| Rlf |
A |
T |
4: 121,005,303 (GRCm39) |
C1226S |
probably damaging |
Het |
| Rpa2 |
C |
T |
4: 132,499,191 (GRCm39) |
P87S |
probably benign |
Het |
| Rpa2 |
C |
T |
4: 132,499,192 (GRCm39) |
P87L |
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,682,506 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
T |
3: 72,852,545 (GRCm39) |
M529K |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,460,237 (GRCm39) |
M3375T |
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,934,259 (GRCm39) |
L83Q |
probably damaging |
Het |
| Tec |
A |
T |
5: 72,939,348 (GRCm39) |
Y222* |
probably null |
Het |
| Tfap2d |
C |
T |
1: 19,189,383 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
G |
A |
9: 121,302,033 (GRCm39) |
A930T |
probably benign |
Het |
| Ugt2b34 |
G |
T |
5: 87,049,111 (GRCm39) |
H305N |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,473 (GRCm39) |
N295S |
probably benign |
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 |
|
|
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 |
|
R2377:Ccdc38
|
UTSW |
10 |
93,409,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation