Incidental Mutation 'R3105:Ccdc163'
| ID |
263003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc163
|
| Ensembl Gene |
ENSMUSG00000028689 |
| Gene Name |
coiled-coil domain containing 163 |
| Synonyms |
4933430J04Rik, 0610037D15Rik |
| MMRRC Submission |
040579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116565537-116572881 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 116566697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 58
(Q58K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030452]
[ENSMUST00000030453]
[ENSMUST00000106462]
[ENSMUST00000106463]
[ENSMUST00000106464]
[ENSMUST00000125671]
[ENSMUST00000130828]
[ENSMUST00000135499]
[ENSMUST00000155391]
[ENSMUST00000138305]
|
| AlphaFold |
A2AGD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030452
AA Change: Q33K
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030452
Gene: ENSMUSG00000028689
AA Change: Q33K
| 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: Q59K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102071
Gene: ENSMUSG00000028689
AA Change: Q59K
| 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: Q59K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102072
Gene: ENSMUSG00000028689
AA Change: Q59K
| 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: Q59K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120954
Gene: ENSMUSG00000028689
AA Change: Q59K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130828
AA Change: Q58K
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120572
Gene: ENSMUSG00000028689
AA Change: Q58K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135499
AA Change: Q72K
|
| SMART Domains |
Protein: ENSMUSP00000114263
Gene: ENSMUSG00000028689
AA Change: Q72K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155391
AA Change: Q58K
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120050
Gene: ENSMUSG00000028689
AA Change: Q58K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134192
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138305
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
T |
C |
1: 75,151,687 (GRCm39) |
|
probably benign |
Het |
| Abhd13 |
T |
C |
8: 10,037,931 (GRCm39) |
V176A |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,483,281 (GRCm39) |
S242R |
possibly damaging |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Ccdc191 |
T |
C |
16: 43,751,573 (GRCm39) |
F301S |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,622,432 (GRCm39) |
N544K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,744,024 (GRCm39) |
R515G |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,394,091 (GRCm39) |
T321S |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,040,018 (GRCm39) |
C138* |
probably null |
Het |
| Dnaja2 |
G |
A |
8: 86,281,857 (GRCm39) |
T7M |
probably damaging |
Het |
| Ezh1 |
A |
C |
11: 101,086,468 (GRCm39) |
C575W |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,698,754 (GRCm39) |
Q463H |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,034,628 (GRCm39) |
D142G |
probably benign |
Het |
| Gm8730 |
T |
C |
8: 103,591,895 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Hnf4g |
T |
G |
3: 3,717,916 (GRCm39) |
S388R |
probably benign |
Het |
| Il1rap |
A |
G |
16: 26,541,502 (GRCm39) |
E581G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,331,394 (GRCm39) |
Y1585H |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,958,636 (GRCm39) |
V483A |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,472,756 (GRCm39) |
|
probably null |
Het |
| Or4a78 |
T |
C |
2: 89,497,302 (GRCm39) |
I309M |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,154,286 (GRCm39) |
T225A |
probably benign |
Het |
| Otof |
A |
G |
5: 30,539,145 (GRCm39) |
Y1090H |
probably benign |
Het |
| Pgr |
T |
A |
9: 8,958,397 (GRCm39) |
F801L |
probably benign |
Het |
| Pomk |
A |
C |
8: 26,472,942 (GRCm39) |
L337R |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,096,520 (GRCm39) |
S675T |
probably damaging |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
| Sars1 |
C |
T |
3: 108,336,621 (GRCm39) |
R302H |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,962,806 (GRCm39) |
E24G |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,328,433 (GRCm39) |
P1194L |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,539,753 (GRCm39) |
C847Y |
probably damaging |
Het |
| Slc22a29 |
T |
C |
19: 8,147,337 (GRCm39) |
T342A |
probably benign |
Het |
| Spaca1 |
G |
A |
4: 34,028,468 (GRCm39) |
T283M |
probably damaging |
Het |
| Stradb |
C |
A |
1: 59,031,450 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Taf6l |
C |
T |
19: 8,756,219 (GRCm39) |
S208N |
probably damaging |
Het |
| Tkfc |
G |
T |
19: 10,574,357 (GRCm39) |
C198* |
probably null |
Het |
| Tm4sf4 |
C |
T |
3: 57,345,043 (GRCm39) |
R150C |
possibly damaging |
Het |
| Tmem212 |
T |
C |
3: 27,939,019 (GRCm39) |
S156G |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,801,124 (GRCm39) |
T204A |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,840,872 (GRCm39) |
L445F |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,592,331 (GRCm39) |
V310I |
probably damaging |
Het |
| Vmn1r205 |
T |
C |
13: 22,777,109 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
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'- TTTCAGTGCCTGCCTGTACAG -3'
(R):5'- AGAATGCTTCAGCGCCTCAG -3'
Sequencing Primer
(F):5'- GTACAGCTCACAGTTCTGTACAAATC -3'
(R):5'- AACCCAGACATTCCTTTCTAAGTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation