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 |
Incidental Mutation