Incidental Mutation 'IGL02793:Rtca'
| ID |
359848 |
| 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: 0.149)
|
| Stock # |
IGL02793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
116282612-116301852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116286726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 302
(F302S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000348]
[ENSMUST00000140677]
[ENSMUST00000153005]
|
| AlphaFold |
Q9D7H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000348
AA Change: F302S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000348
Gene: ENSMUSG00000000339
AA Change: F302S
| 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 |
noncoding transcript
Transcript: ENSMUST00000124486
|
| 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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180969
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,122,293 (GRCm39) |
I397V |
possibly damaging |
Het |
| Bco2 |
A |
T |
9: 50,455,834 (GRCm39) |
V173E |
probably damaging |
Het |
| Bdnf |
T |
C |
2: 109,554,196 (GRCm39) |
V150A |
probably damaging |
Het |
| Cdh15 |
T |
A |
8: 123,587,721 (GRCm39) |
V215E |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,432,144 (GRCm39) |
I1003N |
possibly damaging |
Het |
| Daam2 |
A |
C |
17: 49,771,056 (GRCm39) |
I887S |
probably damaging |
Het |
| Dnajb13 |
C |
T |
7: 100,156,648 (GRCm39) |
D143N |
probably damaging |
Het |
| Fabp3-ps1 |
T |
A |
10: 86,567,943 (GRCm39) |
|
probably benign |
Het |
| Gid4 |
G |
A |
11: 60,323,256 (GRCm39) |
R116Q |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,564,821 (GRCm39) |
E34G |
probably damaging |
Het |
| Hyal6 |
A |
T |
6: 24,734,378 (GRCm39) |
K104* |
probably null |
Het |
| Il1b |
A |
G |
2: 129,209,171 (GRCm39) |
I153T |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,962,072 (GRCm39) |
M1499V |
probably damaging |
Het |
| Kntc1 |
C |
A |
5: 123,916,340 (GRCm39) |
|
probably null |
Het |
| Lmbr1 |
A |
G |
5: 29,497,186 (GRCm39) |
S72P |
probably damaging |
Het |
| Lrrc2 |
T |
C |
9: 110,808,695 (GRCm39) |
|
probably null |
Het |
| Map2k5 |
T |
C |
9: 63,164,321 (GRCm39) |
I328V |
probably benign |
Het |
| Mphosph9 |
T |
A |
5: 124,421,800 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
C |
T |
1: 59,175,993 (GRCm39) |
|
probably null |
Het |
| Ndrg3 |
A |
G |
2: 156,791,952 (GRCm39) |
|
probably null |
Het |
| Ndufa10 |
A |
C |
1: 92,397,639 (GRCm39) |
Y136D |
probably damaging |
Het |
| Or10ak9 |
A |
T |
4: 118,726,794 (GRCm39) |
D271V |
probably damaging |
Het |
| Or2b7 |
T |
A |
13: 21,740,172 (GRCm39) |
S7C |
probably damaging |
Het |
| Or4a72 |
T |
C |
2: 89,405,896 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or8g34 |
A |
G |
9: 39,372,802 (GRCm39) |
E22G |
probably benign |
Het |
| Rab18 |
T |
C |
18: 6,788,474 (GRCm39) |
|
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,493,365 (GRCm39) |
I264T |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,163,293 (GRCm39) |
V393A |
possibly damaging |
Het |
| Rrp12 |
A |
G |
19: 41,860,005 (GRCm39) |
L1025P |
probably damaging |
Het |
| Slc9b1 |
T |
A |
3: 135,080,167 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,464,828 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
T |
A |
2: 84,871,264 (GRCm39) |
I257N |
probably damaging |
Het |
| Sval2 |
A |
C |
6: 41,838,795 (GRCm39) |
Y11S |
probably benign |
Het |
| Tcl1b2 |
T |
C |
12: 105,120,358 (GRCm39) |
*118Q |
probably null |
Het |
| Thsd7b |
A |
G |
1: 129,879,130 (GRCm39) |
Y989C |
probably damaging |
Het |
| Tlr4 |
A |
C |
4: 66,757,681 (GRCm39) |
H158P |
probably damaging |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,852 (GRCm39) |
T256A |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,207,576 (GRCm39) |
E927G |
probably damaging |
Het |
| Yap1 |
T |
C |
9: 7,973,907 (GRCm39) |
N178S |
probably benign |
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 |
|
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 |
2015-12-18 |
Incidental Mutation