Incidental Mutation 'R4712:Rngtt'
| ID |
353307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rngtt
|
| Ensembl Gene |
ENSMUSG00000028274 |
| Gene Name |
RNA guanylyltransferase and 5'-phosphatase |
| Synonyms |
mouse capping enzyme |
| MMRRC Submission |
041981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R4712 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
33310311-33502614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33379394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 432
(E432G)
|
| 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: E432G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029942
Gene: ENSMUSG00000028274
AA Change: E432G
| 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: E432G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103788
Gene: ENSMUSG00000028274
AA Change: E432G
| 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 |
|
| Meta Mutation Damage Score |
0.0758 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
G |
T |
15: 83,111,810 (GRCm39) |
N324K |
probably damaging |
Het |
| Ahcyl1 |
A |
G |
3: 107,574,547 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,641,382 (GRCm39) |
N343K |
probably benign |
Het |
| Batf2 |
C |
A |
19: 6,221,357 (GRCm39) |
Q56K |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,036,274 (GRCm39) |
V691D |
probably damaging |
Het |
| Chst10 |
T |
C |
1: 38,904,922 (GRCm39) |
Y257C |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,228,051 (GRCm39) |
L290Q |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,407,416 (GRCm39) |
T456S |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,001,995 (GRCm39) |
|
probably null |
Het |
| Efhb |
T |
C |
17: 53,758,697 (GRCm39) |
K313R |
probably damaging |
Het |
| Eprs1 |
T |
A |
1: 185,160,305 (GRCm39) |
N1500K |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,183,236 (GRCm39) |
T1748A |
probably benign |
Het |
| Gfra2 |
T |
A |
14: 71,163,377 (GRCm39) |
L87H |
probably damaging |
Het |
| Gfral |
T |
A |
9: 76,100,727 (GRCm39) |
Y237F |
possibly damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,974 (GRCm39) |
N361D |
probably benign |
Het |
| Gsdmc |
G |
T |
15: 63,651,386 (GRCm39) |
T272N |
probably benign |
Het |
| Hspe1 |
T |
A |
1: 55,128,269 (GRCm39) |
S21R |
probably benign |
Het |
| Kctd16 |
G |
T |
18: 40,390,233 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,868,958 (GRCm39) |
I483N |
probably damaging |
Het |
| Kif4-ps |
T |
C |
12: 101,112,534 (GRCm39) |
|
noncoding transcript |
Het |
| Lpp |
T |
C |
16: 24,580,407 (GRCm39) |
V166A |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,336,895 (GRCm39) |
D1292E |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,250,575 (GRCm39) |
Y401H |
probably damaging |
Het |
| Msh2 |
T |
G |
17: 87,985,813 (GRCm39) |
|
probably benign |
Het |
| Myef2 |
A |
T |
2: 124,930,757 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,235,660 (GRCm39) |
Q598L |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,764 (GRCm39) |
V125A |
probably benign |
Het |
| Or1n1 |
A |
T |
2: 36,750,381 (GRCm39) |
|
probably null |
Het |
| Or2b4 |
T |
A |
17: 38,116,591 (GRCm39) |
L185* |
probably null |
Het |
| Or9k7 |
G |
A |
10: 130,046,291 (GRCm39) |
T236I |
possibly damaging |
Het |
| Pcdh9 |
C |
A |
14: 94,126,067 (GRCm39) |
L34F |
probably damaging |
Het |
| Pcdha3 |
A |
T |
18: 37,079,560 (GRCm39) |
I101F |
probably damaging |
Het |
| Pced1b |
A |
G |
15: 97,282,675 (GRCm39) |
E238G |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,258,994 (GRCm39) |
N1131K |
probably damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,060 (GRCm39) |
S99R |
probably damaging |
Het |
| Qng1 |
G |
A |
13: 58,529,617 (GRCm39) |
R332C |
probably benign |
Het |
| Rbp3 |
T |
C |
14: 33,682,615 (GRCm39) |
S1116P |
probably damaging |
Het |
| Rhobtb2 |
T |
C |
14: 70,037,160 (GRCm39) |
D88G |
probably damaging |
Het |
| Sh3rf1 |
A |
G |
8: 61,814,793 (GRCm39) |
T451A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Siva1 |
T |
A |
12: 112,613,336 (GRCm39) |
D61E |
probably benign |
Het |
| Skor1 |
A |
C |
9: 63,046,855 (GRCm39) |
|
probably null |
Het |
| Slc20a1 |
A |
G |
2: 129,041,611 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
A |
G |
4: 150,252,926 (GRCm39) |
E522G |
probably benign |
Het |
| Tmprss7 |
A |
T |
16: 45,511,123 (GRCm39) |
I85N |
probably damaging |
Het |
| Tpx2 |
T |
A |
2: 152,726,958 (GRCm39) |
D408E |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 121,073,436 (GRCm39) |
I551N |
probably benign |
Het |
| Zfat |
A |
T |
15: 67,982,324 (GRCm39) |
|
probably null |
Het |
| Zfp101 |
C |
A |
17: 33,613,457 (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 |
|
|
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'- CAGCAAAGATGAAGTCACACATTAG -3'
(R):5'- TGGTACACCAAACTACAAGAGG -3'
Sequencing Primer
(F):5'- TGAAGTCACACATTAGGACCCAAGG -3'
(R):5'- CCAAACTACAAGAGGAAATAAGCAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation