Incidental Mutation 'R4449:Rngtt'
| ID |
328870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rngtt
|
| Ensembl Gene |
ENSMUSG00000028274 |
| Gene Name |
RNA guanylyltransferase and 5'-phosphatase |
| Synonyms |
mouse capping enzyme |
| MMRRC Submission |
041710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R4449 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
33310311-33502614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33330865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 156
(F156S)
|
| 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: F156S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029942
Gene: ENSMUSG00000028274
AA Change: F156S
| 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: F156S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103788
Gene: ENSMUSG00000028274
AA Change: F156S
| 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: ENSMUST00000130138
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155397
|
| Meta Mutation Damage Score |
0.9647 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap3 |
A |
T |
15: 83,218,759 (GRCm39) |
Y105N |
probably damaging |
Het |
| Arid3b |
T |
A |
9: 57,705,404 (GRCm39) |
K266* |
probably null |
Het |
| Bend3 |
A |
G |
10: 43,388,079 (GRCm39) |
E824G |
possibly damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
| Cadm1 |
T |
A |
9: 47,725,286 (GRCm39) |
|
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,441,735 (GRCm39) |
A22V |
possibly damaging |
Het |
| Cntrob |
C |
A |
11: 69,196,375 (GRCm39) |
D687Y |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,857,185 (GRCm39) |
|
probably benign |
Het |
| Ddc |
T |
C |
11: 11,785,802 (GRCm39) |
D295G |
probably damaging |
Het |
| Fut10 |
T |
A |
8: 31,726,285 (GRCm39) |
Y347N |
probably damaging |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Helz |
T |
C |
11: 107,494,989 (GRCm39) |
V321A |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,421,709 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
T |
A |
4: 59,617,692 (GRCm39) |
I353K |
possibly damaging |
Het |
| Igkv3-2 |
G |
A |
6: 70,675,825 (GRCm39) |
A45T |
probably benign |
Het |
| Kcnh6 |
A |
G |
11: 105,909,762 (GRCm39) |
Y429C |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,268,174 (GRCm39) |
N132K |
probably damaging |
Het |
| Mlycd |
T |
A |
8: 120,137,144 (GRCm39) |
Y455N |
probably damaging |
Het |
| Myl7 |
C |
T |
11: 5,847,354 (GRCm39) |
D115N |
probably damaging |
Het |
| Or52s1 |
A |
T |
7: 102,861,687 (GRCm39) |
I196F |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,877,827 (GRCm39) |
T461A |
probably damaging |
Het |
| Pi4kb |
C |
T |
3: 94,892,046 (GRCm39) |
S254L |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,107,535 (GRCm39) |
V257A |
probably benign |
Het |
| Prpf40b |
A |
G |
15: 99,212,544 (GRCm39) |
D596G |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,781,844 (GRCm39) |
|
probably benign |
Het |
| Shisa6 |
T |
C |
11: 66,416,244 (GRCm39) |
T183A |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,127,206 (GRCm39) |
V287E |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
A |
T |
13: 24,040,715 (GRCm39) |
S392C |
probably damaging |
Het |
| Snx14 |
T |
C |
9: 88,305,052 (GRCm39) |
I81V |
probably benign |
Het |
| Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,797,234 (GRCm39) |
D99E |
probably benign |
Het |
| Trim34b |
T |
C |
7: 103,984,935 (GRCm39) |
C318R |
probably benign |
Het |
| Ttc39a |
T |
C |
4: 109,299,500 (GRCm39) |
I449T |
possibly damaging |
Het |
| Twsg1 |
A |
C |
17: 66,233,305 (GRCm39) |
V215G |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,776,862 (GRCm39) |
V293A |
possibly damaging |
Het |
| Unk |
G |
A |
11: 115,944,460 (GRCm39) |
G404S |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,498,828 (GRCm39) |
|
probably null |
Het |
| Vps13b |
T |
C |
15: 35,876,939 (GRCm39) |
V2864A |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,818,040 (GRCm39) |
R1492W |
probably damaging |
Het |
| Zcchc3 |
G |
C |
2: 152,256,642 (GRCm39) |
P19R |
probably benign |
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 |
|
|
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'- CATATGTTACAACTTACCATGGGCATG -3'
(R):5'- TGCACTTGACCCTGGTTCTG -3'
Sequencing Primer
(F):5'- ACAACTTACCATGGGCATGTGTTTG -3'
(R):5'- TGACCCTGGTTCTGAGTCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation