Incidental Mutation 'R1366:Ccdc121'
ID |
156034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc121
|
Ensembl Gene |
ENSMUSG00000029138 |
Gene Name |
coiled-coil domain containing 121 |
Synonyms |
4930548H24Rik |
MMRRC Submission |
039431-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R1366 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31643205-31645820 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 31644861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 205
(C205S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031020]
|
AlphaFold |
Q9D496 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031020
AA Change: C205S
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000031020 Gene: ENSMUSG00000029138 AA Change: C205S
Domain | Start | End | E-Value | Type |
coiled coil region
|
151 |
195 |
N/A |
INTRINSIC |
Pfam:DUF4515
|
202 |
407 |
2e-77 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201177
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202441
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202605
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.8%
|
Validation Efficiency |
93% (43/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,036,651 (GRCm39) |
S297T |
probably benign |
Het |
Acsm1 |
T |
C |
7: 119,257,511 (GRCm39) |
|
probably benign |
Het |
Ankar |
T |
A |
1: 72,737,808 (GRCm39) |
N125Y |
probably damaging |
Het |
Chd1l |
T |
C |
3: 97,488,465 (GRCm39) |
D517G |
probably damaging |
Het |
Cir1 |
A |
T |
2: 73,136,757 (GRCm39) |
|
probably benign |
Het |
Cpxm1 |
G |
A |
2: 130,238,042 (GRCm39) |
R136W |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,830,390 (GRCm39) |
E761D |
probably benign |
Het |
Fam186a |
T |
A |
15: 99,841,270 (GRCm39) |
E1658V |
possibly damaging |
Het |
Fam98a |
A |
G |
17: 75,846,381 (GRCm39) |
|
probably benign |
Het |
Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
T |
C |
12: 70,934,663 (GRCm39) |
|
probably benign |
Het |
Gmpr2 |
T |
C |
14: 55,914,200 (GRCm39) |
|
probably benign |
Het |
Hck |
G |
A |
2: 152,980,215 (GRCm39) |
G348D |
probably damaging |
Het |
Ifnab |
T |
A |
4: 88,609,337 (GRCm39) |
Q43L |
possibly damaging |
Het |
Ilkap |
A |
G |
1: 91,314,937 (GRCm39) |
I142T |
possibly damaging |
Het |
Lamc3 |
T |
C |
2: 31,818,859 (GRCm39) |
S1206P |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
Mkrn1 |
T |
C |
6: 39,382,851 (GRCm39) |
T134A |
probably benign |
Het |
Mmp9 |
T |
A |
2: 164,795,262 (GRCm39) |
V628E |
probably damaging |
Het |
Msi2 |
A |
T |
11: 88,607,406 (GRCm39) |
V67D |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,969,236 (GRCm39) |
V630E |
probably damaging |
Het |
Nkain1 |
A |
G |
4: 130,537,316 (GRCm38) |
V73A |
probably damaging |
Het |
Nphp4 |
T |
A |
4: 152,587,383 (GRCm39) |
D245E |
probably damaging |
Het |
Or14j3 |
T |
C |
17: 37,900,655 (GRCm39) |
I196M |
probably benign |
Het |
Or7a41 |
T |
G |
10: 78,870,876 (GRCm39) |
M82R |
probably damaging |
Het |
Or9g8 |
G |
A |
2: 85,607,348 (GRCm39) |
C140Y |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,891,038 (GRCm39) |
|
probably benign |
Het |
Plcxd1 |
A |
C |
5: 110,250,096 (GRCm39) |
I184L |
probably damaging |
Het |
Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Scube2 |
A |
G |
7: 109,403,821 (GRCm39) |
Y890H |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,055,928 (GRCm39) |
|
probably null |
Het |
Tnfaip2 |
T |
G |
12: 111,415,756 (GRCm39) |
F485V |
probably benign |
Het |
Tpd52 |
T |
C |
3: 9,028,993 (GRCm39) |
D17G |
probably damaging |
Het |
Ube4b |
T |
C |
4: 149,419,606 (GRCm39) |
D1034G |
probably damaging |
Het |
Vmn2r118 |
G |
A |
17: 55,900,237 (GRCm39) |
Q556* |
probably null |
Het |
Zftraf1 |
T |
C |
15: 76,533,169 (GRCm39) |
R190G |
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 |
|
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 |
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'- AAAGGTTCTCCTCAGCCATCAACG -3'
(R):5'- TCCATTGACTGAAACTGCTGCTCC -3'
Sequencing Primer
(F):5'- AAATGAACTTTTCAAGTCAGAGAGGC -3'
(R):5'- TGAAACTGCTGCTCCAACTG -3'
|
Posted On |
2014-02-11 |