Incidental Mutation 'R2371:Rtcb'
| ID |
247534 |
| 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 |
040351-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R2371 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
85774501-85793657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85779697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 324
(M324I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001834]
|
| AlphaFold |
Q99LF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001834
AA Change: M324I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000001834
Gene: ENSMUSG00000001783
AA Change: M324I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RtcB
|
61 |
505 |
3.3e-143 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156605
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.0%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,431,893 (GRCm39) |
E1105V |
probably benign |
Het |
| Colec10 |
A |
G |
15: 54,325,796 (GRCm39) |
I209V |
possibly damaging |
Het |
| Cttnbp2 |
T |
G |
6: 18,380,603 (GRCm39) |
S1422R |
possibly damaging |
Het |
| Dcst1 |
C |
G |
3: 89,265,949 (GRCm39) |
V179L |
possibly damaging |
Het |
| Fbxw9 |
T |
C |
8: 85,788,658 (GRCm39) |
Y165H |
probably benign |
Het |
| Fgl2 |
A |
T |
5: 21,580,816 (GRCm39) |
Y386F |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,482,691 (GRCm39) |
Y183C |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,068,926 (GRCm39) |
L245P |
probably damaging |
Het |
| Hormad1 |
T |
A |
3: 95,482,910 (GRCm39) |
I132K |
probably benign |
Het |
| Itga8 |
A |
T |
2: 12,258,277 (GRCm39) |
D262E |
probably damaging |
Het |
| Jhy |
G |
A |
9: 40,828,778 (GRCm39) |
T376I |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,107,323 (GRCm39) |
L1592P |
probably damaging |
Het |
| Kif3b |
T |
C |
2: 153,164,743 (GRCm39) |
I587T |
possibly damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,866,697 (GRCm39) |
Y1015H |
probably damaging |
Het |
| Lvrn |
T |
G |
18: 47,011,230 (GRCm39) |
|
probably null |
Het |
| Mapkbp1 |
C |
A |
2: 119,841,261 (GRCm39) |
Q83K |
probably damaging |
Het |
| Or2g25 |
T |
C |
17: 37,971,044 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
| Pigc |
T |
C |
1: 161,798,579 (GRCm39) |
V187A |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,039,991 (GRCm39) |
H333Q |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,100,513 (GRCm39) |
F215L |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,837,125 (GRCm39) |
I125V |
possibly damaging |
Het |
| Shroom3 |
A |
G |
5: 92,928,729 (GRCm39) |
K95E |
probably damaging |
Het |
| Wrnip1 |
C |
T |
13: 32,986,410 (GRCm39) |
P64S |
probably benign |
Het |
| Zbtb24 |
C |
T |
10: 41,327,264 (GRCm39) |
A50V |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACCAGTGCTTGCGACAG -3'
(R):5'- CCTGGTCTGACGTATGGTTC -3'
Sequencing Primer
(F):5'- TGCAGACAATTCTTGCCGAG -3'
(R):5'- ACGTATGGTTCTGTTGCAGATGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation