Incidental Mutation 'IGL00228:Rtca'
| ID |
2457 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
116282612-116301852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116298110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 100
(C100R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000348]
[ENSMUST00000140677]
[ENSMUST00000143425]
[ENSMUST00000153005]
|
| AlphaFold |
Q9D7H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000348
AA Change: C100R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000000348
Gene: ENSMUSG00000000339
AA Change: C100R
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
G |
A |
13: 104,566,298 (GRCm39) |
G731D |
possibly damaging |
Het |
| Adgre4 |
C |
T |
17: 56,109,135 (GRCm39) |
L381F |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,960,804 (GRCm39) |
T1538A |
probably benign |
Het |
| C1qtnf6 |
T |
C |
15: 78,409,094 (GRCm39) |
Y251C |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,672,855 (GRCm39) |
N941S |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,152 (GRCm39) |
I37V |
probably benign |
Het |
| Crtc1 |
T |
C |
8: 70,892,172 (GRCm39) |
K13E |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,461,508 (GRCm39) |
L673P |
probably damaging |
Het |
| Cyp4f18 |
C |
T |
8: 72,743,771 (GRCm39) |
V395I |
probably damaging |
Het |
| Def8 |
A |
G |
8: 124,186,389 (GRCm39) |
D400G |
possibly damaging |
Het |
| Dvl1 |
A |
G |
4: 155,938,155 (GRCm39) |
D101G |
possibly damaging |
Het |
| Fbxw20 |
T |
A |
9: 109,063,770 (GRCm39) |
M1L |
probably damaging |
Het |
| Gad2 |
C |
T |
2: 22,575,398 (GRCm39) |
H501Y |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,851,248 (GRCm39) |
P499L |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kyat3 |
G |
A |
3: 142,432,018 (GRCm39) |
V249I |
probably damaging |
Het |
| Med28 |
A |
G |
5: 45,680,812 (GRCm39) |
E92G |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,072,469 (GRCm39) |
L587* |
probably null |
Het |
| Nup155 |
T |
C |
15: 8,150,939 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
T |
C |
19: 8,740,106 (GRCm39) |
I91T |
possibly damaging |
Het |
| Or8g50 |
T |
C |
9: 39,648,795 (GRCm39) |
I228T |
probably damaging |
Het |
| Orc5 |
T |
A |
5: 22,728,537 (GRCm39) |
T305S |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,710 (GRCm39) |
|
probably null |
Het |
| Septin14 |
G |
T |
5: 129,760,715 (GRCm39) |
H377N |
probably benign |
Het |
| Shcbp1l |
A |
T |
1: 153,311,553 (GRCm39) |
N258I |
possibly damaging |
Het |
| Shisa4 |
A |
C |
1: 135,301,023 (GRCm39) |
S82R |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,029,814 (GRCm39) |
V167M |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Spata18 |
G |
A |
5: 73,815,097 (GRCm39) |
E69K |
possibly damaging |
Het |
| Srsf2 |
A |
C |
11: 116,743,096 (GRCm39) |
|
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,597,066 (GRCm39) |
V335E |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,517,216 (GRCm39) |
V1399I |
probably benign |
Het |
| Topbp1 |
C |
T |
9: 103,222,142 (GRCm39) |
R1338C |
probably benign |
Het |
| Ugt1a5 |
A |
G |
1: 88,094,162 (GRCm39) |
E130G |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,181,526 (GRCm39) |
S219T |
probably damaging |
Het |
| Zbtb38 |
C |
A |
9: 96,569,547 (GRCm39) |
R512S |
probably damaging |
Het |
| Zfp574 |
T |
C |
7: 24,781,015 (GRCm39) |
V679A |
probably benign |
Het |
|
| Other mutations in Rtca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2011-12-09 |
Incidental Mutation