Incidental Mutation 'IGL03309:Rngtt'
| ID |
416496 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rngtt
|
| Ensembl Gene |
ENSMUSG00000028274 |
| Gene Name |
RNA guanylyltransferase and 5'-phosphatase |
| Synonyms |
mouse capping enzyme |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
IGL03309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
33310311-33502614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 33339091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 299
(R299S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029942]
[ENSMUST00000108153]
|
| AlphaFold |
O55236 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE RNA TRIPHOSPHATASE DOMAIN OF MOUSE MRNA CAPPING ENZYME [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE OXIDIZED RNA TRIPHOSPHATASE DOMAIN OF MOUSE MRNA CAPPING ENZYME [X-RAY DIFFRACTION]
Crystal structure of mammalian capping enzyme (Mce1) and Pol II CTD complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029942
AA Change: R299S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029942
Gene: ENSMUSG00000028274
AA Change: R299S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPc
|
46 |
179 |
4.7e-12 |
PFAM |
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
Pfam:mRNA_cap_enzyme
|
272 |
460 |
1.8e-73 |
PFAM |
|
Pfam:mRNA_cap_C
|
463 |
550 |
3.7e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108153
AA Change: R299S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103788
Gene: ENSMUSG00000028274
AA Change: R299S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPc
|
47 |
179 |
2.2e-13 |
PFAM |
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
Pfam:mRNA_cap_enzyme
|
272 |
460 |
2e-80 |
PFAM |
|
Pfam:mRNA_cap_C
|
464 |
559 |
1.9e-22 |
PFAM |
|
low complexity region
|
577 |
590 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155397
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,303 (GRCm39) |
T334A |
possibly damaging |
Het |
| Armc9 |
A |
G |
1: 86,202,155 (GRCm39) |
E771G |
possibly damaging |
Het |
| Cd207 |
G |
T |
6: 83,654,735 (GRCm39) |
T16K |
possibly damaging |
Het |
| Cd44 |
C |
T |
2: 102,644,522 (GRCm39) |
E421K |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,862,331 (GRCm39) |
Y584H |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,379,241 (GRCm39) |
|
probably null |
Het |
| Clpx |
T |
G |
9: 65,229,974 (GRCm39) |
L474R |
probably damaging |
Het |
| Cntd1 |
T |
C |
11: 101,175,590 (GRCm39) |
V143A |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,381,035 (GRCm39) |
V877A |
probably damaging |
Het |
| Dlx6 |
G |
T |
6: 6,867,289 (GRCm39) |
M158I |
possibly damaging |
Het |
| Fank1 |
A |
G |
7: 133,463,902 (GRCm39) |
T33A |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,038,637 (GRCm39) |
L828P |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,431,609 (GRCm39) |
S426T |
probably benign |
Het |
| Gabrg3 |
G |
T |
7: 56,632,433 (GRCm39) |
Q172K |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,908,141 (GRCm39) |
|
probably benign |
Het |
| Hypk |
T |
A |
2: 121,288,673 (GRCm39) |
L113* |
probably null |
Het |
| Hypk |
G |
T |
2: 121,288,674 (GRCm39) |
L113F |
probably damaging |
Het |
| Ipo5 |
G |
A |
14: 121,157,416 (GRCm39) |
V85I |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,986,579 (GRCm39) |
Y575* |
probably null |
Het |
| Morf4l1 |
T |
A |
9: 89,985,798 (GRCm39) |
E60V |
probably benign |
Het |
| Or52ac1 |
A |
G |
7: 104,246,248 (GRCm39) |
F47L |
probably benign |
Het |
| Or6c6 |
A |
T |
10: 129,187,178 (GRCm39) |
T249S |
probably benign |
Het |
| Parp4 |
A |
T |
14: 56,825,265 (GRCm39) |
T130S |
probably benign |
Het |
| Prkd1 |
A |
G |
12: 50,435,207 (GRCm39) |
Y507H |
probably damaging |
Het |
| Psme2b |
A |
C |
11: 48,836,626 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
T |
C |
1: 91,096,562 (GRCm39) |
|
probably null |
Het |
| Ros1 |
A |
G |
10: 51,994,357 (GRCm39) |
S1308P |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,954,998 (GRCm39) |
K398E |
possibly damaging |
Het |
| Scube3 |
C |
T |
17: 28,383,331 (GRCm39) |
R374* |
probably null |
Het |
| Srcap |
A |
G |
7: 127,129,965 (GRCm39) |
T616A |
probably damaging |
Het |
| Stk3 |
G |
A |
15: 35,099,697 (GRCm39) |
|
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,731,898 (GRCm39) |
D69V |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rngtt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01865:Rngtt
|
APN |
4 |
33,325,157 (GRCm39) |
splice site |
probably benign |
|
|
IGL01945:Rngtt
|
APN |
4 |
33,339,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Rngtt
|
APN |
4 |
33,320,517 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02505:Rngtt
|
APN |
4 |
33,337,936 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02679:Rngtt
|
APN |
4 |
33,356,098 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0013:Rngtt
|
UTSW |
4 |
33,379,409 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0626:Rngtt
|
UTSW |
4 |
33,329,598 (GRCm39) |
splice site |
probably null |
|
|
R0633:Rngtt
|
UTSW |
4 |
33,368,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1645:Rngtt
|
UTSW |
4 |
33,362,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Rngtt
|
UTSW |
4 |
33,368,660 (GRCm39) |
missense |
probably benign |
|
|
R1700:Rngtt
|
UTSW |
4 |
33,330,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Rngtt
|
UTSW |
4 |
33,329,634 (GRCm39) |
splice site |
probably null |
|
|
R1809:Rngtt
|
UTSW |
4 |
33,443,614 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1929:Rngtt
|
UTSW |
4 |
33,500,302 (GRCm39) |
nonsense |
probably null |
|
|
R2271:Rngtt
|
UTSW |
4 |
33,500,302 (GRCm39) |
nonsense |
probably null |
|
|
R2844:Rngtt
|
UTSW |
4 |
33,368,678 (GRCm39) |
missense |
probably benign |
|
|
R3773:Rngtt
|
UTSW |
4 |
33,330,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4445:Rngtt
|
UTSW |
4 |
33,499,035 (GRCm39) |
missense |
probably benign |
|
|
R4449:Rngtt
|
UTSW |
4 |
33,330,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Rngtt
|
UTSW |
4 |
33,339,032 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4511:Rngtt
|
UTSW |
4 |
33,339,032 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4578:Rngtt
|
UTSW |
4 |
33,339,050 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4610:Rngtt
|
UTSW |
4 |
33,339,133 (GRCm39) |
intron |
probably benign |
|
|
R4712:Rngtt
|
UTSW |
4 |
33,379,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4888:Rngtt
|
UTSW |
4 |
33,500,335 (GRCm39) |
missense |
unknown |
|
|
R4911:Rngtt
|
UTSW |
4 |
33,500,292 (GRCm39) |
splice site |
probably null |
|
|
R5248:Rngtt
|
UTSW |
4 |
33,325,110 (GRCm39) |
nonsense |
probably null |
|
|
R6429:Rngtt
|
UTSW |
4 |
33,320,606 (GRCm39) |
nonsense |
probably null |
|
|
R6571:Rngtt
|
UTSW |
4 |
33,379,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Rngtt
|
UTSW |
4 |
33,356,176 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7298:Rngtt
|
UTSW |
4 |
33,362,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7379:Rngtt
|
UTSW |
4 |
33,498,981 (GRCm39) |
nonsense |
probably null |
|
|
R8163:Rngtt
|
UTSW |
4 |
33,325,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8717:Rngtt
|
UTSW |
4 |
33,368,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9136:Rngtt
|
UTSW |
4 |
33,404,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Rngtt
|
UTSW |
4 |
33,320,613 (GRCm39) |
nonsense |
probably null |
|
|
R9749:Rngtt
|
UTSW |
4 |
33,368,618 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2016-08-02 |
Incidental Mutation