Incidental Mutation 'R1358:Rnase2b'
ID |
156231 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnase2b
|
Ensembl Gene |
ENSMUSG00000059606 |
Gene Name |
ribonuclease, RNase A family, 2B (liver, eosinophil-derived neurotoxin) |
Synonyms |
Ear5, mR5, murine ribonuclease 5 |
MMRRC Submission |
039423-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R1358 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
51399717-51400475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 51400146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 76
(V76I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075074
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075648]
|
AlphaFold |
O35292 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075648
AA Change: V76I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075074 Gene: ENSMUSG00000059606 AA Change: V76I
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
RNAse_Pc
|
27 |
155 |
1.26e-48 |
SMART |
|
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.1%
- 10x: 92.2%
- 20x: 80.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 10 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
Helz2 |
G |
A |
2: 180,874,774 (GRCm39) |
R1907C |
probably damaging |
Het |
Kcnj12 |
C |
A |
11: 60,960,713 (GRCm39) |
P235H |
probably benign |
Het |
Slc52a2 |
G |
A |
15: 76,424,269 (GRCm39) |
R169H |
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
Sptb |
CTT |
CTTT |
12: 76,668,095 (GRCm39) |
|
probably null |
Het |
Sptb |
C |
T |
12: 76,668,100 (GRCm39) |
G666S |
probably damaging |
Het |
Vmn2r39 |
A |
T |
7: 9,026,687 (GRCm39) |
F438Y |
possibly damaging |
Het |
|
Other mutations in Rnase2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02089:Rnase2b
|
APN |
14 |
51,400,240 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02947:Rnase2b
|
APN |
14 |
51,400,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R1359:Rnase2b
|
UTSW |
14 |
51,400,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R1361:Rnase2b
|
UTSW |
14 |
51,400,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Rnase2b
|
UTSW |
14 |
51,400,296 (GRCm39) |
nonsense |
probably null |
|
R1466:Rnase2b
|
UTSW |
14 |
51,400,296 (GRCm39) |
nonsense |
probably null |
|
R1912:Rnase2b
|
UTSW |
14 |
51,400,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R2009:Rnase2b
|
UTSW |
14 |
51,400,347 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2307:Rnase2b
|
UTSW |
14 |
51,400,188 (GRCm39) |
missense |
probably benign |
0.00 |
R3849:Rnase2b
|
UTSW |
14 |
51,400,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R4717:Rnase2b
|
UTSW |
14 |
51,400,174 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4994:Rnase2b
|
UTSW |
14 |
51,400,208 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7167:Rnase2b
|
UTSW |
14 |
51,400,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R8919:Rnase2b
|
UTSW |
14 |
51,400,347 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9490:Rnase2b
|
UTSW |
14 |
51,400,284 (GRCm39) |
missense |
probably benign |
0.26 |
R9756:Rnase2b
|
UTSW |
14 |
51,400,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGTCTCATGCCAGCGACCAAC -3'
(R):5'- GCACTGGAGCTAAAATAGCCGATCC -3'
Sequencing Primer
(F):5'- AACCCCTTCCCAGAAGTTTG -3'
(R):5'- CTGGGGTTACAGGCAACTG -3'
|
Posted On |
2014-02-11 |