Incidental Mutation 'R6651:Ccdc163'
| ID |
527774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc163
|
| Ensembl Gene |
ENSMUSG00000028689 |
| Gene Name |
coiled-coil domain containing 163 |
| Synonyms |
4933430J04Rik, 0610037D15Rik |
| MMRRC Submission |
044772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6651 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116565537-116572881 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116566261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 16
(S16R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030452]
[ENSMUST00000030453]
[ENSMUST00000106462]
[ENSMUST00000106463]
[ENSMUST00000106464]
[ENSMUST00000125671]
[ENSMUST00000135499]
[ENSMUST00000130828]
[ENSMUST00000155391]
[ENSMUST00000138305]
|
| AlphaFold |
A2AGD7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000030452
AA Change: V5D
|
| SMART Domains |
Protein: ENSMUSP00000030452
Gene: ENSMUSG00000028689
AA Change: V5D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
112 |
144 |
N/A |
INTRINSIC |
|
coiled coil region
|
165 |
196 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030453
|
| SMART Domains |
Protein: ENSMUSP00000030453
Gene: ENSMUSG00000028690
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMACHC
|
20 |
234 |
9.5e-102 |
PFAM |
|
low complexity region
|
243 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106462
|
| SMART Domains |
Protein: ENSMUSP00000102070
Gene: ENSMUSG00000028689
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
74 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106463
AA Change: S16R
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102071
Gene: ENSMUSG00000028689
AA Change: S16R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
coiled coil region
|
138 |
170 |
N/A |
INTRINSIC |
|
coiled coil region
|
191 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106464
AA Change: S16R
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102072
Gene: ENSMUSG00000028689
AA Change: S16R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
coiled coil region
|
138 |
170 |
N/A |
INTRINSIC |
|
coiled coil region
|
191 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124628
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125671
AA Change: S16R
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120954
Gene: ENSMUSG00000028689
AA Change: S16R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135499
AA Change: S16R
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114263
Gene: ENSMUSG00000028689
AA Change: S16R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130828
AA Change: S16R
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120572
Gene: ENSMUSG00000028689
AA Change: S16R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155391
AA Change: S16R
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120050
Gene: ENSMUSG00000028689
AA Change: S16R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134192
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156206
|
| SMART Domains |
Protein: ENSMUSP00000123645
Gene: ENSMUSG00000028689
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
C |
7: 43,147,496 (GRCm39) |
S198A |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,833,448 (GRCm39) |
I29N |
probably damaging |
Het |
| Ankrd61 |
A |
T |
5: 143,830,438 (GRCm39) |
I33N |
probably damaging |
Het |
| Arl6ip1 |
C |
T |
7: 117,728,708 (GRCm39) |
R7H |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,011,470 (GRCm39) |
D946E |
probably benign |
Het |
| Cc2d2b |
A |
T |
19: 40,766,573 (GRCm39) |
Q114L |
probably damaging |
Het |
| Chil6 |
C |
T |
3: 106,311,576 (GRCm39) |
C68Y |
probably damaging |
Het |
| Cngb3 |
G |
T |
4: 19,375,231 (GRCm39) |
R287L |
probably benign |
Het |
| Crem |
C |
T |
18: 3,325,428 (GRCm39) |
R16H |
probably benign |
Het |
| Cyp4f16 |
C |
T |
17: 32,763,118 (GRCm39) |
R188C |
probably benign |
Het |
| Dap |
A |
G |
15: 31,273,353 (GRCm39) |
D46G |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,650,776 (GRCm39) |
Y687H |
probably damaging |
Het |
| Fzd4 |
A |
T |
7: 89,054,010 (GRCm39) |
D39V |
possibly damaging |
Het |
| Ggta1 |
G |
T |
2: 35,292,306 (GRCm39) |
H334N |
probably benign |
Het |
| Golga3 |
C |
T |
5: 110,365,996 (GRCm39) |
R1254* |
probably null |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,881,350 (GRCm39) |
W377* |
probably null |
Het |
| Hfm1 |
T |
C |
5: 106,995,553 (GRCm39) |
D1286G |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,613,768 (GRCm39) |
R425G |
probably damaging |
Het |
| Hivep3 |
G |
A |
4: 119,980,146 (GRCm39) |
R1728H |
probably damaging |
Het |
| Hyal1 |
A |
G |
9: 107,456,570 (GRCm39) |
Y419C |
probably damaging |
Het |
| Ighv8-12 |
A |
T |
12: 115,611,644 (GRCm39) |
D84E |
possibly damaging |
Het |
| Itln1 |
A |
G |
1: 171,345,940 (GRCm39) |
F271L |
possibly damaging |
Het |
| Klra7 |
C |
A |
6: 130,206,908 (GRCm39) |
L64F |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,740,108 (GRCm39) |
C1878* |
probably null |
Het |
| Mia2 |
C |
A |
12: 59,201,148 (GRCm39) |
Q825K |
possibly damaging |
Het |
| Mmp12 |
C |
A |
9: 7,355,345 (GRCm39) |
P294Q |
possibly damaging |
Het |
| Nedd4 |
A |
G |
9: 72,638,553 (GRCm39) |
N480S |
possibly damaging |
Het |
| Or4c12b |
A |
T |
2: 89,647,240 (GRCm39) |
E190V |
probably benign |
Het |
| Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
| Pax6 |
T |
A |
2: 105,516,175 (GRCm39) |
M151K |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,269,437 (GRCm39) |
Y508C |
probably benign |
Het |
| Ptpn20 |
T |
C |
14: 33,354,897 (GRCm39) |
F324S |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,310,160 (GRCm39) |
|
probably null |
Het |
| Rerg |
A |
G |
6: 137,033,384 (GRCm39) |
V97A |
probably damaging |
Het |
| Rffl |
C |
A |
11: 82,703,605 (GRCm39) |
C106F |
probably damaging |
Het |
| Scaper |
T |
G |
9: 55,765,788 (GRCm39) |
N499T |
probably benign |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Slc36a4 |
A |
G |
9: 15,634,874 (GRCm39) |
S139G |
probably benign |
Het |
| Slco2b1 |
T |
A |
7: 99,316,376 (GRCm39) |
M385L |
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,977,372 (GRCm39) |
T70A |
probably benign |
Het |
| Spats2l |
A |
T |
1: 57,985,336 (GRCm39) |
K463M |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,893,044 (GRCm39) |
I715V |
probably benign |
Het |
| Tmem234 |
T |
A |
4: 129,501,264 (GRCm39) |
M113K |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,488 (GRCm39) |
I821V |
probably null |
Het |
| Vmn2r116 |
A |
T |
17: 23,607,805 (GRCm39) |
K458* |
probably null |
Het |
| Vmn2r76 |
T |
A |
7: 85,878,059 (GRCm39) |
N446I |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,622 (GRCm39) |
Y345N |
probably damaging |
Het |
|
| Other mutations in Ccdc163 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Ccdc163
|
APN |
4 |
116,567,487 (GRCm39) |
splice site |
probably null |
|
|
IGL01389:Ccdc163
|
APN |
4 |
116,568,503 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02862:Ccdc163
|
APN |
4 |
116,569,910 (GRCm39) |
splice site |
probably null |
|
|
R0780:Ccdc163
|
UTSW |
4 |
116,569,604 (GRCm39) |
missense |
probably benign |
|
|
R2035:Ccdc163
|
UTSW |
4 |
116,568,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Ccdc163
|
UTSW |
4 |
116,599,058 (GRCm39) |
synonymous |
silent |
|
|
R3105:Ccdc163
|
UTSW |
4 |
116,566,697 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4728:Ccdc163
|
UTSW |
4 |
116,566,209 (GRCm39) |
unclassified |
probably benign |
|
|
R4925:Ccdc163
|
UTSW |
4 |
116,568,528 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5749:Ccdc163
|
UTSW |
4 |
116,571,309 (GRCm39) |
nonsense |
probably null |
|
|
R6529:Ccdc163
|
UTSW |
4 |
116,566,121 (GRCm39) |
splice site |
probably null |
|
|
R8306:Ccdc163
|
UTSW |
4 |
116,567,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8700:Ccdc163
|
UTSW |
4 |
116,571,348 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8840:Ccdc163
|
UTSW |
4 |
116,567,483 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9723:Ccdc163
|
UTSW |
4 |
116,569,595 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGCACTGTTTCTGTAGCC -3'
(R):5'- AACTGTGAGCTGTACAGGCAG -3'
Sequencing Primer
(F):5'- TCTGTAGCCCTAATATATTCCCAC -3'
(R):5'- TCGAAAGGGATACAAACTCTGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation