Incidental Mutation 'R5798:Ccdc169'
| ID |
447306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc169
|
| Ensembl Gene |
ENSMUSG00000048655 |
| Gene Name |
coiled-coil domain containing 169 |
| Synonyms |
A730037C10Rik |
| MMRRC Submission |
043210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R5798 (G1)
|
| Quality Score |
218 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
55044760-55080356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55047545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 12
(V12A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044116]
[ENSMUST00000052904]
[ENSMUST00000061099]
[ENSMUST00000107971]
[ENSMUST00000118118]
[ENSMUST00000118963]
[ENSMUST00000153009]
[ENSMUST00000159904]
[ENSMUST00000161120]
|
| AlphaFold |
Q8BXX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044116
|
| SMART Domains |
Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
| Domain | Start | End | E-Value | Type |
|---|
|
MIT
|
16 |
94 |
4.64e-18 |
SMART |
|
SCOP:d1bw0a_
|
158 |
254 |
8e-4 |
SMART |
|
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
426 |
N/A |
INTRINSIC |
|
Pfam:Senescence
|
431 |
616 |
9.7e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052904
|
| SMART Domains |
Protein: ENSMUSP00000049698
Gene: ENSMUSG00000048655
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4600
|
1 |
100 |
2e-38 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061099
AA Change: V12A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000054771
Gene: ENSMUSG00000048655
AA Change: V12A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4600
|
54 |
181 |
1.8e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107971
|
| SMART Domains |
Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
| Domain | Start | End | E-Value | Type |
|---|
|
MIT
|
16 |
94 |
4.64e-18 |
SMART |
|
SCOP:d1bw0a_
|
158 |
254 |
9e-4 |
SMART |
|
low complexity region
|
351 |
369 |
N/A |
INTRINSIC |
|
Pfam:Senescence
|
373 |
560 |
3.2e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118118
|
| SMART Domains |
Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
| Domain | Start | End | E-Value | Type |
|---|
|
MIT
|
16 |
94 |
4.64e-18 |
SMART |
|
SCOP:d1bw0a_
|
158 |
254 |
8e-4 |
SMART |
|
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
426 |
N/A |
INTRINSIC |
|
Pfam:Senescence
|
430 |
617 |
3.8e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118963
AA Change: V12A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112414
Gene: ENSMUSG00000048655
AA Change: V12A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4600
|
53 |
182 |
1.2e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153009
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159904
|
| SMART Domains |
Protein: ENSMUSP00000123900
Gene: ENSMUSG00000048655
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4600
|
1 |
79 |
1.1e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161120
|
| SMART Domains |
Protein: ENSMUSP00000125131
Gene: ENSMUSG00000048655
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4600
|
1 |
79 |
1.1e-32 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,616,929 (GRCm39) |
Y1226* |
probably null |
Het |
| Ankle2 |
A |
G |
5: 110,399,401 (GRCm39) |
Y587C |
probably damaging |
Het |
| Ankrd52 |
T |
A |
10: 128,223,479 (GRCm39) |
M697K |
probably benign |
Het |
| Arhgef40 |
G |
T |
14: 52,234,489 (GRCm39) |
A931S |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,532,884 (GRCm39) |
|
probably null |
Het |
| Ces3b |
T |
A |
8: 105,815,072 (GRCm39) |
C284S |
probably damaging |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
A |
T |
1: 87,079,205 (GRCm39) |
M491K |
probably damaging |
Het |
| Gnaz |
C |
T |
10: 74,850,703 (GRCm39) |
R243W |
probably damaging |
Het |
| Homer1 |
C |
A |
13: 93,538,603 (GRCm39) |
R311S |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,191,480 (GRCm39) |
D1118G |
probably benign |
Het |
| Or14j10 |
A |
G |
17: 37,934,881 (GRCm39) |
V215A |
probably benign |
Het |
| Or52e7 |
A |
C |
7: 104,685,344 (GRCm39) |
K313T |
probably benign |
Het |
| Pecam1 |
C |
T |
11: 106,586,658 (GRCm39) |
E185K |
possibly damaging |
Het |
| Rfx2 |
A |
T |
17: 57,111,362 (GRCm39) |
V70E |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,717,942 (GRCm39) |
T1474M |
probably damaging |
Het |
| Slc39a12 |
G |
A |
2: 14,454,637 (GRCm39) |
A516T |
probably damaging |
Het |
| Tanc2 |
TGCAGCAGCAGCAGCAGCAGCAGC |
TGCAGCAGCAGCAGCAGCAGC |
11: 105,812,681 (GRCm39) |
|
probably benign |
Het |
| Timd2 |
T |
C |
11: 46,568,064 (GRCm39) |
I243M |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,692,545 (GRCm39) |
S104T |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,446,892 (GRCm39) |
N420S |
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,316,513 (GRCm39) |
I353T |
probably benign |
Het |
|
| Other mutations in Ccdc169 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Ccdc169
|
APN |
3 |
55,078,739 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01662:Ccdc169
|
APN |
3 |
55,070,732 (GRCm39) |
splice site |
probably null |
|
|
IGL02223:Ccdc169
|
APN |
3 |
55,049,721 (GRCm39) |
missense |
probably benign |
|
|
IGL02272:Ccdc169
|
APN |
3 |
55,058,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02329:Ccdc169
|
APN |
3 |
55,078,702 (GRCm39) |
missense |
probably benign |
|
|
R4603:Ccdc169
|
UTSW |
3 |
55,058,226 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5347:Ccdc169
|
UTSW |
3 |
55,049,740 (GRCm39) |
splice site |
probably benign |
|
|
R5951:Ccdc169
|
UTSW |
3 |
55,047,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6562:Ccdc169
|
UTSW |
3 |
55,058,235 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7599:Ccdc169
|
UTSW |
3 |
55,047,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8766:Ccdc169
|
UTSW |
3 |
55,058,245 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8777:Ccdc169
|
UTSW |
3 |
55,058,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8777-TAIL:Ccdc169
|
UTSW |
3 |
55,058,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8919:Ccdc169
|
UTSW |
3 |
55,058,368 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0011:Ccdc169
|
UTSW |
3 |
55,064,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTGTAGACATGAGCAAC -3'
(R):5'- GCACGACAACTCTTGTATTCCC -3'
Sequencing Primer
(F):5'- TGTAGACATGAGCAACACCCTATG -3'
(R):5'- GTAACTCCAATTCCAGGGGATCTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation