Incidental Mutation 'R8028:Ccdc121'
| ID |
628856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc121
|
| Ensembl Gene |
ENSMUSG00000029138 |
| Gene Name |
coiled-coil domain containing 121 |
| Synonyms |
4930548H24Rik |
| MMRRC Submission |
067467-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R8028 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31643205-31645820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 31645266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 340
(V340F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031020]
|
| AlphaFold |
Q9D496 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031020
AA Change: V340F
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031020
Gene: ENSMUSG00000029138
AA Change: V340F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
151 |
195 |
N/A |
INTRINSIC |
|
Pfam:DUF4515
|
202 |
407 |
2e-77 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 96.4%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,626,671 (GRCm39) |
R1500Q |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,885,216 (GRCm39) |
V664M |
probably benign |
Het |
| Arhgef11 |
T |
C |
3: 87,642,859 (GRCm39) |
V1464A |
probably benign |
Het |
| Ccdc158 |
G |
T |
5: 92,782,110 (GRCm39) |
H836Q |
probably damaging |
Het |
| Clcn2 |
T |
A |
16: 20,527,512 (GRCm39) |
Y584F |
possibly damaging |
Het |
| Csn1s2b |
G |
T |
5: 87,966,951 (GRCm39) |
M84I |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gimap4 |
A |
T |
6: 48,667,684 (GRCm39) |
R146S |
probably damaging |
Het |
| Gm20671 |
T |
C |
5: 32,952,958 (GRCm39) |
N184S |
possibly damaging |
Het |
| Gpr179 |
T |
C |
11: 97,228,627 (GRCm39) |
E1176G |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,988,801 (GRCm39) |
S589P |
probably benign |
Het |
| Kcna7 |
T |
A |
7: 45,058,947 (GRCm39) |
C411* |
probably null |
Het |
| Kel |
C |
T |
6: 41,675,958 (GRCm39) |
S244N |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,204,145 (GRCm39) |
S498T |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,897,812 (GRCm39) |
T846I |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,194,502 (GRCm39) |
V1571A |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,269,472 (GRCm39) |
T47A |
probably benign |
Het |
| Parl |
T |
C |
16: 20,098,801 (GRCm39) |
K353E |
probably benign |
Het |
| Pcdhb17 |
G |
A |
18: 37,620,502 (GRCm39) |
S764N |
probably benign |
Het |
| Poglut1 |
A |
G |
16: 38,355,095 (GRCm39) |
S244P |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,881,678 (GRCm39) |
H1281Y |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACCGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sardh |
C |
T |
2: 27,120,467 (GRCm39) |
M438I |
probably damaging |
Het |
| Slc14a1 |
T |
C |
18: 78,159,727 (GRCm39) |
I55M |
probably benign |
Het |
| Slc22a12 |
T |
A |
19: 6,588,469 (GRCm39) |
T350S |
probably benign |
Het |
| Srrt |
CACCTTCTCCCCAGAACCCCACACCTTACCTG |
C |
5: 137,300,760 (GRCm39) |
|
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stk38l |
T |
C |
6: 146,674,881 (GRCm39) |
F382S |
probably damaging |
Het |
| Swt1 |
G |
T |
1: 151,260,248 (GRCm39) |
T717K |
probably benign |
Het |
| Tmem230 |
A |
G |
2: 132,085,985 (GRCm39) |
L59P |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,273,912 (GRCm39) |
Y53F |
probably benign |
Het |
| Zscan12 |
C |
T |
13: 21,553,022 (GRCm39) |
S282L |
probably benign |
Het |
|
| Other mutations in Ccdc121 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Ccdc121
|
APN |
5 |
31,644,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02009:Ccdc121
|
APN |
5 |
31,644,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4304:Ccdc121
|
UTSW |
5 |
31,644,717 (GRCm39) |
small deletion |
probably benign |
|
|
FR4340:Ccdc121
|
UTSW |
5 |
31,644,717 (GRCm39) |
small deletion |
probably benign |
|
|
FR4342:Ccdc121
|
UTSW |
5 |
31,644,717 (GRCm39) |
small deletion |
probably benign |
|
|
FR4589:Ccdc121
|
UTSW |
5 |
31,644,717 (GRCm39) |
small deletion |
probably benign |
|
|
LCD18:Ccdc121
|
UTSW |
5 |
31,644,717 (GRCm39) |
small deletion |
probably benign |
|
|
PIT4486001:Ccdc121
|
UTSW |
5 |
31,645,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0650:Ccdc121
|
UTSW |
5 |
31,643,312 (GRCm39) |
unclassified |
probably benign |
|
|
R1366:Ccdc121
|
UTSW |
5 |
31,644,861 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2050:Ccdc121
|
UTSW |
5 |
31,643,402 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2070:Ccdc121
|
UTSW |
5 |
31,644,727 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2862:Ccdc121
|
UTSW |
5 |
31,643,255 (GRCm39) |
unclassified |
probably benign |
|
|
R3965:Ccdc121
|
UTSW |
5 |
31,645,335 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4299:Ccdc121
|
UTSW |
5 |
31,644,870 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4634:Ccdc121
|
UTSW |
5 |
31,645,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4635:Ccdc121
|
UTSW |
5 |
31,645,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4637:Ccdc121
|
UTSW |
5 |
31,645,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4887:Ccdc121
|
UTSW |
5 |
31,643,596 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5587:Ccdc121
|
UTSW |
5 |
31,643,428 (GRCm39) |
missense |
probably benign |
|
|
R5897:Ccdc121
|
UTSW |
5 |
31,643,308 (GRCm39) |
unclassified |
probably benign |
|
|
R6181:Ccdc121
|
UTSW |
5 |
31,645,399 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6183:Ccdc121
|
UTSW |
5 |
31,645,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8231:Ccdc121
|
UTSW |
5 |
31,643,551 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9535:Ccdc121
|
UTSW |
5 |
31,644,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9655:Ccdc121
|
UTSW |
5 |
31,644,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF006:Ccdc121
|
UTSW |
5 |
31,644,894 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGCAGTCCCAGTTGGAG -3'
(R):5'- AGCCGCTCTTTACACATCTCAAG -3'
Sequencing Primer
(F):5'- CAGTTTCAGTCAATGGAGCAC -3'
(R):5'- ACACATCTCAAGCTTCCTCTTTATAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation