Incidental Mutation 'IGL01677:Rtcb'
| ID |
103668 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rtcb
|
| Ensembl Gene |
ENSMUSG00000001783 |
| Gene Name |
RNA 2',3'-cyclic phosphate and 5'-OH ligase |
| Synonyms |
HSPC117, D10Wsu52e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL01677
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
85774501-85793657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85779793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 292
(Q292H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001834]
|
| AlphaFold |
Q99LF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001834
AA Change: Q292H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001834
Gene: ENSMUSG00000001783
AA Change: Q292H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RtcB
|
61 |
505 |
3.3e-143 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139413
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156605
|
| Coding Region Coverage |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
T |
A |
18: 38,129,700 (GRCm39) |
M154L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,607,853 (GRCm39) |
D131G |
probably damaging |
Het |
| Cdc45 |
G |
A |
16: 18,605,750 (GRCm39) |
T429I |
probably benign |
Het |
| Cnga3 |
C |
T |
1: 37,283,999 (GRCm39) |
R101* |
probably null |
Het |
| Cp |
T |
C |
3: 20,020,598 (GRCm39) |
I197T |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,479 (GRCm39) |
D77G |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,367,928 (GRCm39) |
W2771L |
probably damaging |
Het |
| Fas |
G |
A |
19: 34,296,218 (GRCm39) |
V177I |
probably benign |
Het |
| Gde1 |
A |
G |
7: 118,293,710 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
T |
C |
9: 44,293,309 (GRCm39) |
S223P |
probably benign |
Het |
| Klre1 |
G |
T |
6: 129,559,006 (GRCm39) |
G75C |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,086,143 (GRCm39) |
C1461R |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 32,017,158 (GRCm39) |
|
probably benign |
Het |
| Mrpl18 |
A |
T |
17: 13,130,575 (GRCm39) |
I178N |
probably damaging |
Het |
| Nckap1 |
T |
C |
2: 80,360,641 (GRCm39) |
T503A |
probably benign |
Het |
| Or2n1 |
T |
C |
17: 38,486,766 (GRCm39) |
S264P |
probably damaging |
Het |
| Or52n5 |
T |
C |
7: 104,587,852 (GRCm39) |
S40P |
probably benign |
Het |
| Or52u1 |
T |
C |
7: 104,237,352 (GRCm39) |
S114P |
probably damaging |
Het |
| Or7g28 |
T |
C |
9: 19,272,441 (GRCm39) |
D70G |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,461,782 (GRCm39) |
T593I |
probably damaging |
Het |
| Phtf1 |
T |
A |
3: 103,906,099 (GRCm39) |
S594T |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,810,099 (GRCm39) |
D78E |
probably benign |
Het |
| Proz |
T |
C |
8: 13,115,238 (GRCm39) |
|
probably benign |
Het |
| Septin11 |
A |
T |
5: 93,296,392 (GRCm39) |
T95S |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,020,069 (GRCm39) |
|
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,906,708 (GRCm39) |
I394N |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,956,036 (GRCm39) |
H334R |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,252,201 (GRCm39) |
I466T |
probably benign |
Het |
| Susd2 |
A |
T |
10: 75,475,265 (GRCm39) |
V515E |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,389,945 (GRCm39) |
R778G |
probably benign |
Het |
| Ubfd1 |
T |
A |
7: 121,670,922 (GRCm39) |
|
probably benign |
Het |
| Utrn |
G |
A |
10: 12,619,901 (GRCm39) |
T248M |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,201,823 (GRCm39) |
D227A |
possibly damaging |
Het |
|
| Other mutations in Rtcb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6485:Rtcb
|
UTSW |
10 |
85,793,508 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation