Incidental Mutation 'R5749:Ccdc163'
| ID |
445910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc163
|
| Ensembl Gene |
ENSMUSG00000028689 |
| Gene Name |
coiled-coil domain containing 163 |
| Synonyms |
4933430J04Rik, 0610037D15Rik |
| MMRRC Submission |
043200-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
116565537-116572881 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 116571309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 44
(C44*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030452]
[ENSMUST00000106462]
[ENSMUST00000106463]
[ENSMUST00000106464]
[ENSMUST00000125671]
[ENSMUST00000138305]
[ENSMUST00000155391]
[ENSMUST00000135499]
[ENSMUST00000130828]
|
| AlphaFold |
A2AGD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030452
|
| SMART Domains |
Protein: ENSMUSP00000030452
Gene: ENSMUSG00000028689
| 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 null
Transcript: ENSMUST00000106462
AA Change: C158*
|
| SMART Domains |
Protein: ENSMUSP00000102070
Gene: ENSMUSG00000028689
AA Change: C158*
| 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 null
Transcript: ENSMUST00000106463
AA Change: C275*
|
| SMART Domains |
Protein: ENSMUSP00000102071
Gene: ENSMUSG00000028689
AA Change: C275*
| 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 null
Transcript: ENSMUST00000106464
AA Change: C275*
|
| SMART Domains |
Protein: ENSMUSP00000102072
Gene: ENSMUSG00000028689
AA Change: C275*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000120954
Gene: ENSMUSG00000028689
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126197
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156206
AA Change: C44*
|
| SMART Domains |
Protein: ENSMUSP00000123645
Gene: ENSMUSG00000028689
AA Change: C44*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134192
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138305
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155391
|
| SMART Domains |
Protein: ENSMUSP00000120050
Gene: ENSMUSG00000028689
| 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: ENSMUST00000135499
|
| SMART Domains |
Protein: ENSMUSP00000114263
Gene: ENSMUSG00000028689
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130828
|
| SMART Domains |
Protein: ENSMUSP00000120572
Gene: ENSMUSG00000028689
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
169 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
G |
A |
11: 54,214,881 (GRCm39) |
|
probably null |
Het |
| Ankrd12 |
T |
C |
17: 66,293,091 (GRCm39) |
S781G |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,782,799 (GRCm39) |
S523P |
probably benign |
Het |
| Ccdc83 |
T |
C |
7: 89,873,156 (GRCm39) |
T400A |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,216,965 (GRCm39) |
S426P |
possibly damaging |
Het |
| Cyp2b19 |
T |
C |
7: 26,462,844 (GRCm39) |
I242T |
possibly damaging |
Het |
| Efnb2 |
A |
C |
8: 8,689,347 (GRCm39) |
C92G |
probably damaging |
Het |
| Fam90a1a |
T |
A |
8: 22,453,057 (GRCm39) |
S137R |
possibly damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fem1b |
A |
G |
9: 62,704,288 (GRCm39) |
L324P |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,302,849 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,045,983 (GRCm39) |
|
probably null |
Het |
| Ifi209 |
A |
C |
1: 173,464,893 (GRCm39) |
I8L |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,266,889 (GRCm39) |
E182G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,703,743 (GRCm39) |
L87H |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,790,210 (GRCm39) |
I160T |
probably benign |
Het |
| Lbp |
T |
A |
2: 158,161,673 (GRCm39) |
V52D |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,764,347 (GRCm39) |
V318A |
possibly damaging |
Het |
| Myo16 |
C |
T |
8: 10,463,245 (GRCm39) |
S604L |
probably benign |
Het |
| Or10ag52 |
C |
T |
2: 87,043,287 (GRCm39) |
T17I |
probably benign |
Het |
| Or10g1 |
T |
A |
14: 52,647,961 (GRCm39) |
M123L |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,589 (GRCm39) |
V28A |
probably benign |
Het |
| Or6c38 |
A |
T |
10: 128,928,966 (GRCm39) |
N292K |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,007,525 (GRCm39) |
D346G |
probably damaging |
Het |
| Ppara |
A |
T |
15: 85,673,229 (GRCm39) |
D140V |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
| Prss36 |
T |
A |
7: 127,532,814 (GRCm39) |
I192F |
probably damaging |
Het |
| Psg25 |
T |
C |
7: 18,258,776 (GRCm39) |
E300G |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,738,424 (GRCm39) |
F26L |
possibly damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,073,101 (GRCm39) |
T796S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,267 (GRCm39) |
H3508R |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,081,529 (GRCm39) |
D1282V |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,310 (GRCm39) |
E59G |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,401,177 (GRCm39) |
H1040Q |
probably benign |
Het |
| Usp10 |
G |
A |
8: 120,667,872 (GRCm39) |
E58K |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,232 (GRCm39) |
T512A |
probably benign |
Het |
| Vmn2r52 |
C |
T |
7: 9,892,959 (GRCm39) |
D727N |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,655,979 (GRCm39) |
K346* |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,546 (GRCm39) |
F2I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,332,780 (GRCm39) |
S69P |
probably benign |
Het |
| Zftraf1 |
A |
C |
15: 76,542,844 (GRCm39) |
|
probably null |
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 |
|
R6529:Ccdc163
|
UTSW |
4 |
116,566,121 (GRCm39) |
splice site |
probably null |
|
|
R6651:Ccdc163
|
UTSW |
4 |
116,566,261 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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'- TCCTGGCCTCAGAACAGAAG -3'
(R):5'- ATGCCCCAACTACAATTAAGTGG -3'
Sequencing Primer
(F):5'- CCTCAGAACAGAAGGTTTTATGCTGG -3'
(R):5'- TCTGGGTTACATAGCAAGCC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation