Incidental Mutation 'R2844:Rngtt'
| ID |
251416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rngtt
|
| Ensembl Gene |
ENSMUSG00000028274 |
| Gene Name |
RNA guanylyltransferase and 5'-phosphatase |
| Synonyms |
mouse capping enzyme |
| MMRRC Submission |
040437-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R2844 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
33310311-33502614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33368678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 404
(T404A)
|
| 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 benign
Transcript: ENSMUST00000029942
AA Change: T404A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029942
Gene: ENSMUSG00000028274
AA Change: T404A
| 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 benign
Transcript: ENSMUST00000108153
AA Change: T404A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103788
Gene: ENSMUSG00000028274
AA Change: T404A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
G |
A |
3: 59,843,830 (GRCm39) |
V175I |
probably benign |
Het |
| Abcb1a |
A |
T |
5: 8,736,164 (GRCm39) |
I186F |
probably benign |
Het |
| Afg3l1 |
T |
C |
8: 124,221,678 (GRCm39) |
|
probably benign |
Het |
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Ccdc50 |
A |
G |
16: 27,225,479 (GRCm39) |
E64G |
probably damaging |
Het |
| Celsr3 |
G |
T |
9: 108,706,507 (GRCm39) |
G997W |
probably damaging |
Het |
| Chd8 |
C |
T |
14: 52,441,952 (GRCm39) |
E2138K |
possibly damaging |
Het |
| Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
| Dnaaf11 |
A |
G |
15: 66,319,525 (GRCm39) |
|
probably benign |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Fzr1 |
G |
T |
10: 81,205,252 (GRCm39) |
T159K |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gna13 |
T |
C |
11: 109,253,951 (GRCm39) |
I51T |
probably damaging |
Het |
| Gorab |
A |
G |
1: 163,224,375 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Ints6 |
A |
G |
14: 62,942,275 (GRCm39) |
V486A |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,779,709 (GRCm39) |
K331R |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Med14 |
A |
T |
X: 12,550,235 (GRCm39) |
H684Q |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,645,357 (GRCm39) |
L755P |
probably damaging |
Het |
| Pex14 |
A |
T |
4: 149,047,968 (GRCm39) |
I203N |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,168,657 (GRCm39) |
E691G |
probably damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Pnoc |
A |
T |
14: 65,642,284 (GRCm39) |
F160I |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
| Ppil6 |
A |
T |
10: 41,377,689 (GRCm39) |
|
probably benign |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,795,173 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,784,186 (GRCm39) |
|
probably benign |
Het |
| Rnase11 |
A |
G |
14: 51,287,227 (GRCm39) |
L109S |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
| Sema5b |
A |
G |
16: 35,480,301 (GRCm39) |
N656S |
probably damaging |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Thbs1 |
C |
T |
2: 117,948,109 (GRCm39) |
T423I |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,206,419 (GRCm39) |
Y243* |
probably null |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zfp648 |
A |
T |
1: 154,080,881 (GRCm39) |
K347* |
probably null |
Het |
| Zfp84 |
T |
G |
7: 29,474,758 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCACTAGACATCTCCAAGGATTG -3'
(R):5'- TGCTGAAGAAGAGACCCTGG -3'
Sequencing Primer
(F):5'- GACTATAGCATAGAGTACTGCAACC -3'
(R):5'- CTGAAGAAGAGACCCTGGGTGTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation