Incidental Mutation 'R3083:Rtca'
| ID |
264062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtca
|
| Ensembl Gene |
ENSMUSG00000000339 |
| Gene Name |
RNA 3'-terminal phosphate cyclase |
| Synonyms |
Rtcd1, 2310009A18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R3083 (G1)
|
| Quality Score |
106 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116282612-116301852 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to A
at 116301674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000348]
[ENSMUST00000140677]
[ENSMUST00000143425]
[ENSMUST00000153005]
|
| AlphaFold |
Q9D7H3 |
| Predicted Effect |
probably benign
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,576 (GRCm39) |
V341A |
possibly damaging |
Het |
| Armc2 |
T |
C |
10: 41,842,726 (GRCm39) |
D359G |
probably damaging |
Het |
| Cdh6 |
T |
C |
15: 13,044,838 (GRCm39) |
D428G |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,813,363 (GRCm39) |
N1441D |
probably benign |
Het |
| Fbln1 |
T |
G |
15: 85,149,454 (GRCm39) |
I617S |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm15446 |
A |
G |
5: 110,091,158 (GRCm39) |
N470S |
possibly damaging |
Het |
| Grin3a |
G |
A |
4: 49,665,243 (GRCm39) |
R1131W |
probably benign |
Het |
| H2bc27 |
A |
G |
11: 58,839,802 (GRCm39) |
K13E |
probably benign |
Het |
| Incenp |
T |
A |
19: 9,861,143 (GRCm39) |
M480L |
unknown |
Het |
| Lrp1b |
A |
T |
2: 40,490,336 (GRCm39) |
M275K |
probably damaging |
Het |
| Lrrc14b |
C |
T |
13: 74,511,337 (GRCm39) |
D248N |
possibly damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,129,588 (GRCm39) |
F885S |
probably benign |
Het |
| Or12d2 |
T |
C |
17: 37,625,086 (GRCm39) |
N63S |
probably damaging |
Het |
| Or4c122 |
A |
C |
2: 89,079,345 (GRCm39) |
V231G |
probably damaging |
Het |
| Or8b52 |
A |
G |
9: 38,576,912 (GRCm39) |
V76A |
probably damaging |
Het |
| Plcl2 |
T |
A |
17: 50,994,772 (GRCm39) |
N1080K |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,936,466 (GRCm39) |
S10T |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,129,981 (GRCm39) |
F1278S |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,955,928 (GRCm39) |
D948G |
probably benign |
Het |
| Smu1 |
T |
C |
4: 40,745,567 (GRCm39) |
D251G |
probably damaging |
Het |
| Ssh3 |
C |
T |
19: 4,312,587 (GRCm39) |
R586H |
probably benign |
Het |
| Tomm40l |
A |
T |
1: 171,048,780 (GRCm39) |
L78H |
probably damaging |
Het |
| Vmn2r4 |
A |
G |
3: 64,296,788 (GRCm39) |
S666P |
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 |
|
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 |
|
R6763:Rtca
|
UTSW |
3 |
116,301,398 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- AGGCCGCACTCTTAATTGCC -3'
(R):5'- TTTGGGTACACAGTCGCACAAC -3'
Sequencing Primer
(F):5'- TGGAGACCCTGAGGATCTG -3'
(R):5'- CTCTCTGAGCGCTGGGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation