Incidental Mutation 'R7379:Rngtt'
| ID |
572566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rngtt
|
| Ensembl Gene |
ENSMUSG00000028274 |
| Gene Name |
RNA guanylyltransferase and 5'-phosphatase |
| Synonyms |
mouse capping enzyme |
| MMRRC Submission |
045461-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R7379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
33310311-33502614 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 33498981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 513
(K513*)
|
| 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 null
Transcript: ENSMUST00000029942
AA Change: K513*
|
| SMART Domains |
Protein: ENSMUSP00000029942
Gene: ENSMUSG00000028274
AA Change: K513*
| 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 null
Transcript: ENSMUST00000108153
AA Change: K513*
|
| SMART Domains |
Protein: ENSMUSP00000103788
Gene: ENSMUSG00000028274
AA Change: K513*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
G |
A |
17: 66,292,242 (GRCm39) |
R1064* |
probably null |
Het |
| Ccdc149 |
A |
G |
5: 52,562,408 (GRCm39) |
I206T |
probably damaging |
Het |
| Ctu1 |
AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG |
AGGACCGGGCAGGAGCCACCTGTGTATCGCAG |
7: 43,326,490 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,414,183 (GRCm39) |
T361A |
probably damaging |
Het |
| Cyp4a14 |
A |
T |
4: 115,350,907 (GRCm39) |
|
probably null |
Het |
| Cyp7b1 |
A |
G |
3: 18,151,538 (GRCm39) |
V225A |
probably benign |
Het |
| Esf1 |
A |
G |
2: 139,996,854 (GRCm39) |
I503T |
probably benign |
Het |
| Flrt2 |
G |
A |
12: 95,747,329 (GRCm39) |
V556I |
possibly damaging |
Het |
| Gaa |
T |
C |
11: 119,174,525 (GRCm39) |
S791P |
probably benign |
Het |
| H2-T22 |
A |
G |
17: 36,353,232 (GRCm39) |
|
probably null |
Het |
| Hexb |
A |
G |
13: 97,317,672 (GRCm39) |
S342P |
probably damaging |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ift57 |
A |
G |
16: 49,581,357 (GRCm39) |
E341G |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,194 (GRCm39) |
I240K |
probably benign |
Het |
| Kit |
A |
T |
5: 75,808,412 (GRCm39) |
S719C |
probably damaging |
Het |
| Klf1 |
T |
A |
8: 85,629,846 (GRCm39) |
Y224N |
possibly damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,709 (GRCm39) |
E387G |
probably damaging |
Het |
| L3mbtl1 |
T |
A |
2: 162,802,899 (GRCm39) |
D347E |
probably damaging |
Het |
| Map1s |
A |
G |
8: 71,366,219 (GRCm39) |
T375A |
possibly damaging |
Het |
| Mturn |
A |
G |
6: 54,666,069 (GRCm39) |
T81A |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,024,446 (GRCm39) |
E506G |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,369,479 (GRCm39) |
F512S |
probably damaging |
Het |
| Or10g1 |
T |
C |
14: 52,647,718 (GRCm39) |
T204A |
probably benign |
Het |
| Or12e13 |
T |
A |
2: 87,664,123 (GRCm39) |
C247S |
probably damaging |
Het |
| Or4c12b |
T |
A |
2: 89,647,033 (GRCm39) |
V115E |
probably benign |
Het |
| Or9s14 |
G |
T |
1: 92,536,189 (GRCm39) |
C210F |
possibly damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,880,619 (GRCm39) |
N127D |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,502,983 (GRCm39) |
I1148V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,212,430 (GRCm39) |
D1007G |
probably benign |
Het |
| Prdm16 |
T |
A |
4: 154,613,316 (GRCm39) |
E37V |
probably damaging |
Het |
| Prss45 |
C |
A |
9: 110,668,261 (GRCm39) |
N151K |
possibly damaging |
Het |
| Serpinb10 |
T |
C |
1: 107,460,117 (GRCm39) |
|
probably benign |
Het |
| Shc1 |
T |
C |
3: 89,334,129 (GRCm39) |
V402A |
probably benign |
Het |
| Slc25a38 |
T |
A |
9: 119,949,902 (GRCm39) |
L227Q |
probably benign |
Het |
| Slc6a13 |
A |
T |
6: 121,313,798 (GRCm39) |
K514* |
probably null |
Het |
| Sorcs3 |
T |
C |
19: 48,760,705 (GRCm39) |
V911A |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,657,651 (GRCm39) |
I1290N |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,089,292 (GRCm39) |
K657E |
possibly damaging |
Het |
| Stpg4 |
T |
A |
17: 87,735,068 (GRCm39) |
|
probably null |
Het |
| Stx2 |
A |
G |
5: 129,064,863 (GRCm39) |
V278A |
possibly damaging |
Het |
| Thoc1 |
A |
T |
18: 9,992,902 (GRCm39) |
N558I |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,750,568 (GRCm39) |
T1343A |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,040,939 (GRCm39) |
D1806E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,037 (GRCm39) |
M787I |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,873,566 (GRCm39) |
S248P |
|
Het |
| Zeb2 |
G |
T |
2: 44,891,829 (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 |
|
IGL03309:Rngtt
|
APN |
4 |
33,339,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGTGCACCATATCTTCAGG -3'
(R):5'- TCCAGGCCTGACTACCTAAC -3'
Sequencing Primer
(F):5'- GCACCATATCTTCAGGCTTGATTAG -3'
(R):5'- TGACTACCTAACCCATTATTCAGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation