Incidental Mutation 'IGL01464:Ccdc121rt3'
| ID |
88065 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc121rt3
|
| Ensembl Gene |
ENSMUSG00000051503 |
| Gene Name |
coiled-coil domain containing 121, retrogene 3 |
| Synonyms |
Gm6583 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01464
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
112501667-112503899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112503399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 102
(S102P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035279]
[ENSMUST00000051117]
[ENSMUST00000112359]
|
| AlphaFold |
E9Q8Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035279
|
| SMART Domains |
Protein: ENSMUSP00000047920
Gene: ENSMUSG00000042328
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051117
AA Change: S102P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049839
Gene: ENSMUSG00000051503
AA Change: S102P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
|
coiled coil region
|
159 |
193 |
N/A |
INTRINSIC |
|
Pfam:DUF4515
|
199 |
404 |
1.2e-79 |
PFAM |
|
low complexity region
|
406 |
422 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112359
|
| SMART Domains |
Protein: ENSMUSP00000107978
Gene: ENSMUSG00000042328
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133708
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
C |
A |
1: 165,374,156 (GRCm39) |
H748Q |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,819,822 (GRCm39) |
V329A |
possibly damaging |
Het |
| Ankk1 |
T |
C |
9: 49,327,272 (GRCm39) |
T636A |
probably benign |
Het |
| Apoh |
A |
T |
11: 108,286,716 (GRCm39) |
I47F |
probably damaging |
Het |
| Atg9a |
A |
G |
1: 75,167,010 (GRCm39) |
S14P |
probably damaging |
Het |
| Calb1 |
T |
A |
4: 15,881,485 (GRCm39) |
|
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,315 (GRCm39) |
S51G |
probably benign |
Het |
| Ctsll3 |
C |
T |
13: 60,948,134 (GRCm39) |
G181D |
probably damaging |
Het |
| Elmod2 |
G |
A |
8: 84,043,421 (GRCm39) |
|
probably benign |
Het |
| Ephx3 |
A |
G |
17: 32,407,219 (GRCm39) |
S240P |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,764,827 (GRCm39) |
I435M |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,363,688 (GRCm39) |
D770G |
possibly damaging |
Het |
| Kmt2c |
G |
A |
5: 25,557,242 (GRCm39) |
T1155I |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,302,783 (GRCm39) |
D2982G |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,569,251 (GRCm39) |
V1157I |
unknown |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,796,580 (GRCm39) |
N976K |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,081,257 (GRCm39) |
F1153S |
probably damaging |
Het |
| Pnrc1 |
T |
C |
4: 33,246,395 (GRCm39) |
Y188C |
probably benign |
Het |
| Polr3a |
A |
C |
14: 24,520,749 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,787 (GRCm39) |
T512A |
possibly damaging |
Het |
| Rhbdf2 |
C |
T |
11: 116,491,734 (GRCm39) |
G574S |
probably benign |
Het |
| Rnf123 |
T |
C |
9: 107,929,501 (GRCm39) |
D1217G |
probably damaging |
Het |
| Slc19a2 |
T |
C |
1: 164,088,430 (GRCm39) |
S92P |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 178,043,425 (GRCm39) |
I139N |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,327,864 (GRCm39) |
N486S |
probably null |
Het |
| Xpo1 |
T |
A |
11: 23,217,703 (GRCm39) |
H56Q |
probably damaging |
Het |
| Zbtb44 |
T |
A |
9: 30,965,580 (GRCm39) |
L330H |
probably damaging |
Het |
|
| Other mutations in Ccdc121rt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Ccdc121rt3
|
APN |
5 |
112,502,994 (GRCm39) |
nonsense |
probably null |
|
|
IGL01615:Ccdc121rt3
|
APN |
5 |
112,503,696 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0508:Ccdc121rt3
|
UTSW |
5 |
112,502,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Ccdc121rt3
|
UTSW |
5 |
112,502,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1466:Ccdc121rt3
|
UTSW |
5 |
112,502,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1473:Ccdc121rt3
|
UTSW |
5 |
112,502,415 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1474:Ccdc121rt3
|
UTSW |
5 |
112,503,642 (GRCm39) |
missense |
probably benign |
|
|
R1584:Ccdc121rt3
|
UTSW |
5 |
112,502,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2032:Ccdc121rt3
|
UTSW |
5 |
112,502,978 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2422:Ccdc121rt3
|
UTSW |
5 |
112,502,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Ccdc121rt3
|
UTSW |
5 |
112,503,165 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4796:Ccdc121rt3
|
UTSW |
5 |
112,503,165 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5306:Ccdc121rt3
|
UTSW |
5 |
112,502,910 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5997:Ccdc121rt3
|
UTSW |
5 |
112,502,874 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6915:Ccdc121rt3
|
UTSW |
5 |
112,502,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7022:Ccdc121rt3
|
UTSW |
5 |
112,503,395 (GRCm39) |
missense |
probably benign |
|
|
R7702:Ccdc121rt3
|
UTSW |
5 |
112,503,063 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7721:Ccdc121rt3
|
UTSW |
5 |
112,503,383 (GRCm39) |
missense |
probably benign |
|
|
R8037:Ccdc121rt3
|
UTSW |
5 |
112,502,882 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8114:Ccdc121rt3
|
UTSW |
5 |
112,503,563 (GRCm39) |
missense |
probably benign |
|
|
R8380:Ccdc121rt3
|
UTSW |
5 |
112,503,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8914:Ccdc121rt3
|
UTSW |
5 |
112,503,087 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9067:Ccdc121rt3
|
UTSW |
5 |
112,502,706 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9140:Ccdc121rt3
|
UTSW |
5 |
112,502,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9322:Ccdc121rt3
|
UTSW |
5 |
112,503,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9690:Ccdc121rt3
|
UTSW |
5 |
112,503,300 (GRCm39) |
missense |
probably benign |
|
|
R9786:Ccdc121rt3
|
UTSW |
5 |
112,502,939 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ccdc121rt3
|
UTSW |
5 |
112,502,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-11-18 |
Incidental Mutation