Incidental Mutation 'R8380:Ccdc121rt3'
| ID |
646903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc121rt3
|
| Ensembl Gene |
ENSMUSG00000051503 |
| Gene Name |
coiled-coil domain containing 121, retrogene 3 |
| Synonyms |
Gm6583 |
| MMRRC Submission |
067747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R8380 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
112501667-112503899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112503191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 171
(D171G)
|
| 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 benign
Transcript: ENSMUST00000051117
AA Change: D171G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000049839
Gene: ENSMUSG00000051503
AA Change: D171G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
C |
T |
14: 66,275,006 (GRCm39) |
V576I |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,995,219 (GRCm39) |
V5501A |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,250,467 (GRCm39) |
T426A |
probably benign |
Het |
| Armc7 |
G |
T |
11: 115,366,726 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
A |
G |
8: 69,556,042 (GRCm39) |
E239G |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cenpc1 |
C |
A |
5: 86,194,275 (GRCm39) |
A164S |
probably benign |
Het |
| Cep131 |
T |
A |
11: 119,967,854 (GRCm39) |
R134W |
probably damaging |
Het |
| Chek1 |
T |
A |
9: 36,623,408 (GRCm39) |
N422I |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,531,651 (GRCm39) |
E718G |
probably damaging |
Het |
| Cyp2c70 |
C |
T |
19: 40,175,669 (GRCm39) |
C13Y |
probably benign |
Het |
| Dhx40 |
G |
A |
11: 86,697,411 (GRCm39) |
T52M |
probably damaging |
Het |
| Dnhd1 |
G |
T |
7: 105,327,073 (GRCm39) |
R674L |
probably benign |
Het |
| Lrrc36 |
T |
A |
8: 106,153,460 (GRCm39) |
V90E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,087,823 (GRCm39) |
Y5459H |
probably benign |
Het |
| Nt5c2 |
A |
T |
19: 46,877,489 (GRCm39) |
M484K |
probably damaging |
Het |
| Or10c1 |
T |
A |
17: 37,522,232 (GRCm39) |
N171Y |
possibly damaging |
Het |
| Or10q1b |
T |
C |
19: 13,682,608 (GRCm39) |
I139T |
probably benign |
Het |
| Or11g26 |
T |
C |
14: 50,753,297 (GRCm39) |
V212A |
probably benign |
Het |
| Papss1 |
C |
T |
3: 131,337,456 (GRCm39) |
P539L |
probably damaging |
Het |
| Pdlim3 |
A |
T |
8: 46,370,572 (GRCm39) |
M243L |
probably benign |
Het |
| Pls1 |
G |
A |
9: 95,657,438 (GRCm39) |
H303Y |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,135,619 (GRCm39) |
T328A |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Scaf4 |
A |
G |
16: 90,057,133 (GRCm39) |
S73P |
unknown |
Het |
| Snrpa |
G |
T |
7: 26,886,713 (GRCm39) |
Q261K |
possibly damaging |
Het |
| Top1 |
A |
G |
2: 160,559,315 (GRCm39) |
N613D |
probably benign |
Het |
| Vill |
A |
G |
9: 118,886,917 (GRCm39) |
T21A |
probably benign |
Het |
| Wdr1 |
C |
G |
5: 38,697,864 (GRCm39) |
D234H |
possibly 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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCTCACACTGCTGGATGTAG -3'
(R):5'- GCAGCTGCTCTTCAATGGTC -3'
Sequencing Primer
(F):5'- ACTGCTGGATGTAGTCTTTCCACAG -3'
(R):5'- GCTCTTCAATGGTCAGCATCATCAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation