Incidental Mutation 'IGL00904:Ccdc121rt3'
ID |
27385 |
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 # |
IGL00904
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
112501667-112503899 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 112502994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 237
(R237*)
|
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 |
probably null
Transcript: ENSMUST00000051117
AA Change: R237*
|
SMART Domains |
Protein: ENSMUSP00000049839 Gene: ENSMUSG00000051503 AA Change: R237*
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
G |
T |
6: 86,923,135 (GRCm39) |
G236C |
probably damaging |
Het |
Abi1 |
C |
T |
2: 22,831,942 (GRCm39) |
R404Q |
possibly damaging |
Het |
Atp8b3 |
C |
T |
10: 80,364,598 (GRCm39) |
G532R |
probably damaging |
Het |
Bysl |
C |
T |
17: 47,912,796 (GRCm39) |
M331I |
probably benign |
Het |
Cndp1 |
A |
G |
18: 84,629,790 (GRCm39) |
S468P |
probably benign |
Het |
Esd |
A |
G |
14: 74,987,128 (GRCm39) |
*266W |
probably null |
Het |
F5 |
T |
C |
1: 164,021,578 (GRCm39) |
V1351A |
probably benign |
Het |
Fchsd2 |
A |
G |
7: 100,920,829 (GRCm39) |
D454G |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,975,195 (GRCm39) |
M1415L |
probably benign |
Het |
Ghr |
T |
A |
15: 3,357,602 (GRCm39) |
Y222F |
probably benign |
Het |
Gtf3c2 |
C |
T |
5: 31,330,202 (GRCm39) |
S299N |
probably damaging |
Het |
Ice1 |
C |
T |
13: 70,750,408 (GRCm39) |
D93N |
probably damaging |
Het |
Ints7 |
T |
A |
1: 191,328,276 (GRCm39) |
|
probably null |
Het |
Kif18a |
A |
G |
2: 109,122,471 (GRCm39) |
D182G |
probably damaging |
Het |
Mcm9 |
A |
T |
10: 53,499,017 (GRCm39) |
H308Q |
possibly damaging |
Het |
Mesp2 |
A |
G |
7: 79,462,401 (GRCm39) |
D319G |
probably benign |
Het |
Mrpl55 |
T |
A |
11: 59,096,499 (GRCm39) |
S84T |
probably benign |
Het |
Mybpc3 |
T |
C |
2: 90,950,374 (GRCm39) |
V123A |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,406,944 (GRCm39) |
|
probably benign |
Het |
Nfia |
C |
T |
4: 97,953,623 (GRCm39) |
P325S |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,794,535 (GRCm39) |
|
probably null |
Het |
Npepps |
A |
C |
11: 97,149,132 (GRCm39) |
V130G |
probably damaging |
Het |
Or7c70 |
A |
T |
10: 78,683,597 (GRCm39) |
S51T |
probably damaging |
Het |
Pja2 |
G |
T |
17: 64,590,526 (GRCm39) |
T669K |
probably damaging |
Het |
Rnf112 |
G |
T |
11: 61,343,610 (GRCm39) |
D98E |
probably damaging |
Het |
Rsl1d1 |
G |
A |
16: 11,017,558 (GRCm39) |
T136I |
probably damaging |
Het |
Samsn1 |
A |
T |
16: 75,706,008 (GRCm39) |
|
probably benign |
Het |
Slc6a9 |
T |
C |
4: 117,721,814 (GRCm39) |
L280P |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,097,398 (GRCm39) |
N1382D |
probably benign |
Het |
Vmn2r100 |
T |
G |
17: 19,746,262 (GRCm39) |
C474G |
probably damaging |
Het |
Vmn2r74 |
C |
T |
7: 85,606,788 (GRCm39) |
R186H |
probably benign |
Het |
Wdr7 |
T |
C |
18: 63,929,302 (GRCm39) |
I1046T |
probably benign |
Het |
|
Other mutations in Ccdc121rt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01464:Ccdc121rt3
|
APN |
5 |
112,503,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
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 |
2013-04-17 |