Incidental Mutation 'R8231:Ccdc121'
| ID |
637138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc121
|
| Ensembl Gene |
ENSMUSG00000029138 |
| Gene Name |
coiled-coil domain containing 121 |
| Synonyms |
4930548H24Rik |
| MMRRC Submission |
067663-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R8231 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31643205-31645820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31643551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 94
(C94S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031020]
[ENSMUST00000076264]
[ENSMUST00000202244]
|
| AlphaFold |
Q9D496 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031020
AA Change: C94S
PolyPhen 2
Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031020
Gene: ENSMUSG00000029138
AA Change: C94S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
151 |
195 |
N/A |
INTRINSIC |
|
Pfam:DUF4515
|
202 |
407 |
2e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076264
|
| SMART Domains |
Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
106 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
172 |
197 |
2e-8 |
BLAST |
|
ZnF_C2H2
|
200 |
223 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
254 |
276 |
2.63e2 |
SMART |
|
ZnF_C2H2
|
290 |
313 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
7.37e1 |
SMART |
|
ZnF_C2H2
|
442 |
465 |
3.11e-2 |
SMART |
|
low complexity region
|
485 |
511 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202244
|
| SMART Domains |
Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
106 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
172 |
197 |
1e-8 |
BLAST |
|
ZnF_C2H2
|
200 |
223 |
1.6e-3 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
3.2e-1 |
SMART |
|
ZnF_C2H2
|
386 |
409 |
1.4e-4 |
SMART |
|
low complexity region
|
429 |
455 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
C |
T |
17: 85,000,213 (GRCm39) |
R258C |
probably damaging |
Het |
| Acsf2 |
C |
G |
11: 94,452,188 (GRCm39) |
E451D |
probably benign |
Het |
| Adam34 |
A |
T |
8: 44,104,659 (GRCm39) |
S329T |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,925,599 (GRCm39) |
I535T |
probably damaging |
Het |
| Atp6v0d2 |
A |
G |
4: 19,881,451 (GRCm39) |
F214S |
probably damaging |
Het |
| Btg4 |
A |
G |
9: 51,027,868 (GRCm39) |
T13A |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,248,511 (GRCm39) |
Y1687H |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,747,939 (GRCm39) |
S271T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,831,427 (GRCm39) |
T1596A |
probably damaging |
Het |
| Cyp2a4 |
G |
A |
7: 26,012,362 (GRCm39) |
D382N |
probably benign |
Het |
| Dbh |
C |
T |
2: 27,060,555 (GRCm39) |
R244C |
probably benign |
Het |
| Dennd11 |
A |
T |
6: 40,395,546 (GRCm39) |
H187Q |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,966,689 (GRCm39) |
K426R |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,752,950 (GRCm39) |
M428K |
possibly damaging |
Het |
| Duox2 |
A |
T |
2: 122,120,044 (GRCm39) |
M822K |
possibly damaging |
Het |
| Golga5 |
T |
C |
12: 102,438,558 (GRCm39) |
V91A |
probably benign |
Het |
| Gpatch2l |
T |
C |
12: 86,290,963 (GRCm39) |
S49P |
probably damaging |
Het |
| Ints7 |
T |
A |
1: 191,328,465 (GRCm39) |
L246* |
probably null |
Het |
| Kntc1 |
A |
G |
5: 123,920,959 (GRCm39) |
T926A |
possibly damaging |
Het |
| Kyat1 |
T |
C |
2: 30,081,978 (GRCm39) |
T54A |
probably benign |
Het |
| Megf6 |
C |
G |
4: 154,336,975 (GRCm39) |
C359W |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,307,572 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
A |
2: 52,125,491 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
A |
T |
1: 81,169,846 (GRCm39) |
Q201L |
probably benign |
Het |
| Pibf1 |
T |
G |
14: 99,423,997 (GRCm39) |
H523Q |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,232,836 (GRCm39) |
S133P |
|
Het |
| Pnma8b |
T |
C |
7: 16,680,515 (GRCm39) |
C500R |
probably benign |
Het |
| Ptpra |
A |
G |
2: 130,379,523 (GRCm39) |
N359S |
probably damaging |
Het |
| Rce1 |
A |
T |
19: 4,675,078 (GRCm39) |
I112N |
probably damaging |
Het |
| Rmdn1 |
T |
C |
4: 19,586,853 (GRCm39) |
Y104H |
probably benign |
Het |
| Snx22 |
A |
T |
9: 65,975,480 (GRCm39) |
D96E |
probably benign |
Het |
| Sox5 |
G |
T |
6: 143,974,014 (GRCm39) |
Q245K |
probably damaging |
Het |
| Stat6 |
A |
G |
10: 127,482,842 (GRCm39) |
D21G |
possibly damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,065,045 (GRCm39) |
Y180C |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,933,026 (GRCm39) |
T2058A |
probably damaging |
Het |
| Thbs4 |
A |
T |
13: 92,911,352 (GRCm39) |
V277E |
probably benign |
Het |
| Tmem255b |
A |
G |
8: 13,504,225 (GRCm39) |
D139G |
probably damaging |
Het |
| Ttc27 |
C |
A |
17: 75,024,959 (GRCm39) |
T18K |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,237,348 (GRCm39) |
F337L |
probably damaging |
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 |
|
R8028:Ccdc121
|
UTSW |
5 |
31,645,266 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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'- GACTCCCAAATGCAGTGTGAC -3'
(R):5'- CTGGTGATTTCAAGTCTTCATGC -3'
Sequencing Primer
(F):5'- GTGACTGCATTTCACAGGAC -3'
(R):5'- AAGTCTTCATGCCACGTGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation