Incidental Mutation 'R6763:Rtca'
| ID |
531771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtca
|
| Ensembl Gene |
ENSMUSG00000000339 |
| Gene Name |
RNA 3'-terminal phosphate cyclase |
| Synonyms |
Rtcd1, 2310009A18Rik |
| MMRRC Submission |
044879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R6763 (G1)
|
| Quality Score |
150.008 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116282612-116301852 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 116301398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000348]
[ENSMUST00000140677]
[ENSMUST00000143425]
[ENSMUST00000153005]
|
| AlphaFold |
Q9D7H3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000348
|
| SMART Domains |
Protein: ENSMUSP00000000348
Gene: ENSMUSG00000000339
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RTC
|
12 |
338 |
4.3e-89 |
PFAM |
|
Pfam:RTC_insert
|
185 |
287 |
4.5e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140677
|
| SMART Domains |
Protein: ENSMUSP00000117610
Gene: ENSMUSG00000000339
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RTC
|
8 |
51 |
3.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143425
|
| SMART Domains |
Protein: ENSMUSP00000121357
Gene: ENSMUSG00000000339
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RTC
|
8 |
102 |
9.8e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153005
|
| SMART Domains |
Protein: ENSMUSP00000119463
Gene: ENSMUSG00000000339
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RTC
|
1 |
133 |
1.1e-27 |
PFAM |
|
Pfam:RTC_insert
|
78 |
142 |
2e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA 3'-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3'-phosphate of RNA substrates to a 2',3'-cyclic phosphodiester. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit incomplete prenatal lethality and enhanced retinal ganglion cell axon regeneration after optic nerve crush injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
A |
15: 102,248,457 (GRCm39) |
R286L |
probably null |
Het |
| Actrt2 |
A |
G |
4: 154,751,836 (GRCm39) |
V100A |
probably damaging |
Het |
| Adra1b |
A |
G |
11: 43,666,833 (GRCm39) |
L468P |
possibly damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,776,022 (GRCm39) |
E1457G |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,398,255 (GRCm39) |
M974L |
possibly damaging |
Het |
| Atp8a2 |
T |
A |
14: 60,245,857 (GRCm39) |
I612F |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,582,564 (GRCm39) |
L284P |
probably damaging |
Het |
| Cand2 |
T |
A |
6: 115,776,930 (GRCm39) |
M1106K |
probably benign |
Het |
| Ccbe1 |
A |
T |
18: 66,194,459 (GRCm39) |
F376I |
possibly damaging |
Het |
| Ceacam14 |
A |
G |
7: 17,549,268 (GRCm39) |
T220A |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,704,549 (GRCm39) |
D344G |
probably damaging |
Het |
| Chaf1b |
A |
G |
16: 93,688,393 (GRCm39) |
K163E |
probably damaging |
Het |
| Clec2d |
C |
A |
6: 129,161,107 (GRCm39) |
T68K |
probably benign |
Het |
| Cwc27 |
T |
C |
13: 104,947,809 (GRCm39) |
T19A |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,668,050 (GRCm39) |
Y1519F |
possibly damaging |
Het |
| E130308A19Rik |
A |
T |
4: 59,752,288 (GRCm39) |
K467M |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,944,208 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,231 (GRCm39) |
Y629C |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,053,868 (GRCm39) |
N470D |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,110,615 (GRCm39) |
I445N |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,261,570 (GRCm39) |
D1508G |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,021 (GRCm39) |
H2989R |
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,801,460 (GRCm39) |
|
probably null |
Het |
| Nln |
A |
T |
13: 104,172,163 (GRCm39) |
W638R |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,671,017 (GRCm39) |
I127V |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,165,379 (GRCm39) |
R672* |
probably null |
Het |
| Prkcb |
A |
G |
7: 122,193,887 (GRCm39) |
Y532C |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,395,279 (GRCm39) |
|
probably null |
Het |
| Rab11fip5 |
A |
G |
6: 85,319,152 (GRCm39) |
L579S |
probably benign |
Het |
| Sdccag8 |
A |
G |
1: 176,682,193 (GRCm39) |
|
probably null |
Het |
| Svil |
G |
T |
18: 5,056,437 (GRCm39) |
D524Y |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,560,636 (GRCm39) |
N788S |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,764,469 (GRCm39) |
R2140S |
probably damaging |
Het |
| Zfp518a |
A |
G |
19: 40,902,192 (GRCm39) |
K707R |
probably damaging |
Het |
|
| Other mutations in Rtca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Rtca
|
APN |
3 |
116,298,110 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02793:Rtca
|
APN |
3 |
116,286,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03028:Rtca
|
APN |
3 |
116,286,741 (GRCm39) |
unclassified |
probably benign |
|
|
R1749:Rtca
|
UTSW |
3 |
116,291,293 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1858:Rtca
|
UTSW |
3 |
116,287,764 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2127:Rtca
|
UTSW |
3 |
116,291,323 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3083:Rtca
|
UTSW |
3 |
116,301,674 (GRCm39) |
start gained |
probably benign |
|
|
R3750:Rtca
|
UTSW |
3 |
116,286,650 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5493:Rtca
|
UTSW |
3 |
116,293,280 (GRCm39) |
missense |
probably benign |
|
|
R5502:Rtca
|
UTSW |
3 |
116,282,931 (GRCm39) |
nonsense |
probably null |
|
|
R5889:Rtca
|
UTSW |
3 |
116,293,232 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6151:Rtca
|
UTSW |
3 |
116,301,476 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8184:Rtca
|
UTSW |
3 |
116,301,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8710:Rtca
|
UTSW |
3 |
116,291,303 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9180:Rtca
|
UTSW |
3 |
116,282,905 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9502:Rtca
|
UTSW |
3 |
116,301,413 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9685:Rtca
|
UTSW |
3 |
116,293,225 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1176:Rtca
|
UTSW |
3 |
116,282,952 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTTTCAAGGCGTCCTAAG -3'
(R):5'- TCCACAGCAACAGTTTCCCG -3'
Sequencing Primer
(F):5'- CTAAGGACAACTAGCGGCCTG -3'
(R):5'- AAGCGCACTATCAGGCCTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation