Incidental Mutation 'R0785:Ccdc121rt2'
| ID |
76815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc121rt2
|
| Ensembl Gene |
ENSMUSG00000072722 |
| Gene Name |
coiled-coil domain containing 121, retrogene 2 |
| Synonyms |
Gm6588 |
| MMRRC Submission |
038965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R0785 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
112597292-112599604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112598434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 327
(D327G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075387]
[ENSMUST00000079491]
[ENSMUST00000100882]
[ENSMUST00000197425]
[ENSMUST00000212480]
[ENSMUST00000212758]
|
| AlphaFold |
E9Q3K0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075387
|
| SMART Domains |
Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
|
CUB
|
221 |
329 |
3.62e-8 |
SMART |
|
CCP
|
333 |
388 |
1.01e-11 |
SMART |
|
CUB
|
392 |
502 |
3.75e-15 |
SMART |
|
CCP
|
507 |
564 |
1.41e-10 |
SMART |
|
CUB
|
568 |
679 |
4.87e-23 |
SMART |
|
CCP
|
685 |
740 |
4.95e-15 |
SMART |
|
CCP
|
746 |
805 |
3.07e-11 |
SMART |
|
CCP
|
813 |
870 |
8.04e-15 |
SMART |
|
low complexity region
|
880 |
891 |
N/A |
INTRINSIC |
|
transmembrane domain
|
895 |
917 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079491
|
| SMART Domains |
Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
|
CUB
|
221 |
329 |
3.62e-8 |
SMART |
|
CCP
|
333 |
388 |
1.01e-11 |
SMART |
|
CUB
|
392 |
502 |
3.75e-15 |
SMART |
|
CCP
|
507 |
564 |
1.41e-10 |
SMART |
|
CUB
|
568 |
679 |
4.87e-23 |
SMART |
|
CCP
|
685 |
740 |
4.95e-15 |
SMART |
|
CCP
|
746 |
805 |
3.07e-11 |
SMART |
|
CCP
|
813 |
870 |
8.04e-15 |
SMART |
|
low complexity region
|
878 |
892 |
N/A |
INTRINSIC |
|
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100882
AA Change: D327G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000098441
Gene: ENSMUSG00000072722
AA Change: D327G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
159 |
180 |
N/A |
INTRINSIC |
|
Pfam:DUF4515
|
194 |
399 |
9.5e-82 |
PFAM |
|
low complexity region
|
403 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197425
|
| SMART Domains |
Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
|
CUB
|
221 |
329 |
3.62e-8 |
SMART |
|
CCP
|
333 |
388 |
1.01e-11 |
SMART |
|
CUB
|
392 |
502 |
3.75e-15 |
SMART |
|
CCP
|
507 |
564 |
1.41e-10 |
SMART |
|
CUB
|
568 |
679 |
4.87e-23 |
SMART |
|
CCP
|
685 |
740 |
4.95e-15 |
SMART |
|
CCP
|
746 |
805 |
3.07e-11 |
SMART |
|
low complexity region
|
815 |
826 |
N/A |
INTRINSIC |
|
transmembrane domain
|
830 |
852 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212480
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212758
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.1%
- 20x: 87.1%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
| Adam10 |
A |
G |
9: 70,675,170 (GRCm39) |
E593G |
possibly damaging |
Het |
| Adh6a |
T |
C |
3: 138,034,829 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
T |
A |
12: 52,933,405 (GRCm39) |
I299N |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,013,483 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,977,359 (GRCm39) |
N1318K |
probably benign |
Het |
| Eif2b2 |
C |
A |
12: 85,268,335 (GRCm39) |
T170K |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,242,239 (GRCm39) |
H138Q |
probably damaging |
Het |
| Ern2 |
A |
T |
7: 121,770,884 (GRCm39) |
|
probably null |
Het |
| Fkbp11 |
T |
C |
15: 98,624,430 (GRCm39) |
K108R |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,719,152 (GRCm39) |
K353E |
possibly damaging |
Het |
| Hipk1 |
G |
T |
3: 103,661,641 (GRCm39) |
|
probably null |
Het |
| Itga4 |
A |
G |
2: 79,119,649 (GRCm39) |
D485G |
possibly damaging |
Het |
| Krt1c |
C |
A |
15: 101,726,356 (GRCm39) |
G61C |
unknown |
Het |
| Med12l |
T |
A |
3: 59,168,253 (GRCm39) |
L1561Q |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,254,908 (GRCm39) |
|
probably null |
Het |
| Myorg |
A |
G |
4: 41,497,539 (GRCm39) |
V697A |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,593 (GRCm39) |
R1137Q |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,070,081 (GRCm39) |
H251Q |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,646,566 (GRCm39) |
D1366G |
possibly damaging |
Het |
| Or2b7 |
A |
G |
13: 21,739,958 (GRCm39) |
V78A |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,336,750 (GRCm39) |
|
probably null |
Het |
| Pde6c |
A |
C |
19: 38,121,628 (GRCm39) |
M79L |
probably benign |
Het |
| Pld5 |
C |
T |
1: 175,803,018 (GRCm39) |
|
probably benign |
Het |
| Polr1g |
G |
C |
7: 19,091,210 (GRCm39) |
S299C |
probably benign |
Het |
| Rps6kc1 |
A |
G |
1: 190,541,142 (GRCm39) |
V387A |
probably damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,890 (GRCm39) |
D79G |
probably benign |
Het |
| Tmem243 |
A |
T |
5: 9,168,488 (GRCm39) |
K90I |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,192,289 (GRCm39) |
H260R |
probably damaging |
Het |
| Trappc1 |
A |
G |
11: 69,215,636 (GRCm39) |
|
probably benign |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Zfp300 |
T |
C |
X: 20,949,164 (GRCm39) |
Y200C |
possibly damaging |
Het |
|
| Other mutations in Ccdc121rt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02323:Ccdc121rt2
|
APN |
5 |
112,597,600 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1938:Ccdc121rt2
|
UTSW |
5 |
112,597,667 (GRCm39) |
nonsense |
probably null |
|
|
R2047:Ccdc121rt2
|
UTSW |
5 |
112,598,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4116:Ccdc121rt2
|
UTSW |
5 |
112,598,377 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4608:Ccdc121rt2
|
UTSW |
5 |
112,597,764 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4841:Ccdc121rt2
|
UTSW |
5 |
112,598,106 (GRCm39) |
nonsense |
probably null |
|
|
R4842:Ccdc121rt2
|
UTSW |
5 |
112,598,106 (GRCm39) |
nonsense |
probably null |
|
|
R6301:Ccdc121rt2
|
UTSW |
5 |
112,598,334 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6418:Ccdc121rt2
|
UTSW |
5 |
112,598,019 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7395:Ccdc121rt2
|
UTSW |
5 |
112,598,035 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7799:Ccdc121rt2
|
UTSW |
5 |
112,597,698 (GRCm39) |
missense |
not run |
|
|
R7991:Ccdc121rt2
|
UTSW |
5 |
112,598,791 (GRCm39) |
missense |
probably benign |
|
|
R8188:Ccdc121rt2
|
UTSW |
5 |
112,597,993 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8343:Ccdc121rt2
|
UTSW |
5 |
112,598,653 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8773:Ccdc121rt2
|
UTSW |
5 |
112,597,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8966:Ccdc121rt2
|
UTSW |
5 |
112,598,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9089:Ccdc121rt2
|
UTSW |
5 |
112,598,757 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF013:Ccdc121rt2
|
UTSW |
5 |
112,597,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Ccdc121rt2
|
UTSW |
5 |
112,598,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Ccdc121rt2
|
UTSW |
5 |
112,597,741 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ccdc121rt2
|
UTSW |
5 |
112,598,827 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Ccdc121rt2
|
UTSW |
5 |
112,597,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGAAGCTGAAGGCTCTGGCTC -3'
(R):5'- TTTCTGCCTGGCACCCAGTAGATG -3'
Sequencing Primer
(F):5'- AAGGCTCTGGCTCCCATC -3'
(R):5'- ACCCAGTAGATGGTCCAGTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation