Incidental Mutation 'R6485:Rtcb'
ID |
517308 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rtcb
|
Ensembl Gene |
ENSMUSG00000001783 |
Gene Name |
RNA 2',3'-cyclic phosphate and 5'-OH ligase |
Synonyms |
HSPC117, D10Wsu52e |
MMRRC Submission |
044617-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R6485 (G1)
|
Quality Score |
163.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
85774501-85793657 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85793508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 22
(I22V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001834
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001834]
[ENSMUST00000061699]
|
AlphaFold |
Q99LF4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001834
AA Change: I22V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000001834 Gene: ENSMUSG00000001783 AA Change: I22V
Domain | Start | End | E-Value | Type |
Pfam:RtcB
|
61 |
505 |
3.3e-143 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000061699
|
SMART Domains |
Protein: ENSMUSP00000063107 Gene: ENSMUSG00000050108
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
BPI1
|
33 |
257 |
8.89e-23 |
SMART |
BPI2
|
272 |
474 |
2.29e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218274
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice lacking expression in B cells show impaired immunoglobin secretion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
C |
A |
7: 120,026,390 (GRCm39) |
Y117* |
probably null |
Het |
Acot5 |
A |
T |
12: 84,122,258 (GRCm39) |
R281W |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,241,852 (GRCm39) |
T719A |
probably benign |
Het |
Arhgap33 |
T |
C |
7: 30,223,429 (GRCm39) |
T867A |
probably benign |
Het |
Bcl2a1c |
T |
C |
9: 114,159,278 (GRCm39) |
Y19H |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,974,459 (GRCm39) |
I2285T |
possibly damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,559,655 (GRCm39) |
Y755C |
probably damaging |
Het |
Cdc27 |
T |
C |
11: 104,396,474 (GRCm39) |
T816A |
probably benign |
Het |
Clasrp |
C |
A |
7: 19,320,294 (GRCm39) |
|
probably benign |
Het |
Col6a4 |
A |
G |
9: 105,954,069 (GRCm39) |
|
probably null |
Het |
Cpd |
T |
C |
11: 76,699,533 (GRCm39) |
|
probably null |
Het |
Crispld2 |
A |
G |
8: 120,756,048 (GRCm39) |
D339G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,333,610 (GRCm39) |
D7046G |
probably damaging |
Het |
Erbin |
G |
T |
13: 104,004,621 (GRCm39) |
Q136K |
probably damaging |
Het |
Exph5 |
G |
A |
9: 53,287,991 (GRCm39) |
E1691K |
possibly damaging |
Het |
Fads6 |
A |
G |
11: 115,176,264 (GRCm39) |
F187S |
probably benign |
Het |
Foxg1 |
A |
T |
12: 49,431,863 (GRCm39) |
I199F |
probably damaging |
Het |
Garem1 |
T |
C |
18: 21,262,894 (GRCm39) |
D640G |
probably benign |
Het |
Gba2 |
A |
C |
4: 43,574,118 (GRCm39) |
Y112D |
probably damaging |
Het |
Gcfc2 |
T |
C |
6: 81,916,528 (GRCm39) |
I323T |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gria4 |
T |
A |
9: 4,464,249 (GRCm39) |
Y571F |
probably damaging |
Het |
Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
Lonrf1 |
A |
G |
8: 36,696,288 (GRCm39) |
|
probably null |
Het |
Mrgprb5 |
T |
C |
7: 47,818,525 (GRCm39) |
N70S |
probably damaging |
Het |
Muc2 |
T |
A |
7: 141,300,473 (GRCm39) |
|
probably benign |
Het |
Nol4 |
T |
C |
18: 22,903,850 (GRCm39) |
D375G |
probably damaging |
Het |
Or2b2 |
A |
G |
13: 21,887,600 (GRCm39) |
Q143R |
probably benign |
Het |
Pcnt |
G |
T |
10: 76,225,164 (GRCm39) |
S1780* |
probably null |
Het |
Pdgfra |
A |
T |
5: 75,335,735 (GRCm39) |
|
probably null |
Het |
Pgd |
A |
T |
4: 149,240,876 (GRCm39) |
|
probably null |
Het |
Pla2g6 |
T |
C |
15: 79,191,572 (GRCm39) |
I279V |
probably benign |
Het |
Ptpn21 |
A |
T |
12: 98,665,131 (GRCm39) |
C297* |
probably null |
Het |
Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
Slc25a30 |
G |
T |
14: 76,012,447 (GRCm39) |
A67E |
probably damaging |
Het |
Stk11ip |
T |
C |
1: 75,506,612 (GRCm39) |
V605A |
possibly damaging |
Het |
Ush1c |
A |
T |
7: 45,858,534 (GRCm39) |
S585T |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,657,414 (GRCm39) |
D1785G |
probably damaging |
Het |
Zic5 |
T |
A |
14: 122,697,052 (GRCm39) |
Y521F |
unknown |
Het |
|
Other mutations in Rtcb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01677:Rtcb
|
APN |
10 |
85,779,793 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02836:Rtcb
|
APN |
10 |
85,779,806 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0023:Rtcb
|
UTSW |
10 |
85,785,315 (GRCm39) |
unclassified |
probably benign |
|
R0023:Rtcb
|
UTSW |
10 |
85,785,315 (GRCm39) |
unclassified |
probably benign |
|
R0046:Rtcb
|
UTSW |
10 |
85,793,520 (GRCm39) |
missense |
probably benign |
0.05 |
R0046:Rtcb
|
UTSW |
10 |
85,793,520 (GRCm39) |
missense |
probably benign |
0.05 |
R0589:Rtcb
|
UTSW |
10 |
85,787,315 (GRCm39) |
missense |
probably damaging |
0.97 |
R1718:Rtcb
|
UTSW |
10 |
85,777,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R1792:Rtcb
|
UTSW |
10 |
85,778,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R2011:Rtcb
|
UTSW |
10 |
85,777,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R2371:Rtcb
|
UTSW |
10 |
85,779,697 (GRCm39) |
missense |
probably benign |
0.00 |
R3786:Rtcb
|
UTSW |
10 |
85,778,458 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4272:Rtcb
|
UTSW |
10 |
85,793,483 (GRCm39) |
missense |
probably damaging |
0.99 |
R4926:Rtcb
|
UTSW |
10 |
85,791,600 (GRCm39) |
missense |
probably benign |
0.00 |
R6272:Rtcb
|
UTSW |
10 |
85,791,638 (GRCm39) |
missense |
probably damaging |
0.98 |
R6711:Rtcb
|
UTSW |
10 |
85,774,963 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7487:Rtcb
|
UTSW |
10 |
85,789,333 (GRCm39) |
missense |
probably benign |
0.02 |
R7748:Rtcb
|
UTSW |
10 |
85,777,832 (GRCm39) |
missense |
probably benign |
0.00 |
R8405:Rtcb
|
UTSW |
10 |
85,793,534 (GRCm39) |
missense |
probably benign |
0.00 |
R8422:Rtcb
|
UTSW |
10 |
85,779,168 (GRCm39) |
missense |
probably benign |
|
R9254:Rtcb
|
UTSW |
10 |
85,779,071 (GRCm39) |
critical splice donor site |
probably null |
|
R9259:Rtcb
|
UTSW |
10 |
85,774,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R9379:Rtcb
|
UTSW |
10 |
85,779,071 (GRCm39) |
critical splice donor site |
probably null |
|
R9749:Rtcb
|
UTSW |
10 |
85,785,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGAACACCGTGTCTGATGG -3'
(R):5'- GAAGAGTTTTGAGCCTCGGC -3'
Sequencing Primer
(F):5'- CTGATGGTGCGTGGGGAAAAC -3'
(R):5'- ATCTTCCCTCCTGGAGCGG -3'
|
Posted On |
2018-05-21 |