Incidental Mutation 'R1209:Rnaset2b'
| ID |
100623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnaset2b
|
| Ensembl Gene |
ENSMUSG00000094724 |
| Gene Name |
ribonuclease T2B |
| Synonyms |
|
| MMRRC Submission |
039278-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1209 (G1)
|
| Quality Score |
116 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
7246259-7265592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 7246475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 27
(C27S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089119]
[ENSMUST00000179728]
[ENSMUST00000231550]
[ENSMUST00000232245]
[ENSMUST00000232304]
|
| AlphaFold |
C0HKG5
C0HKG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089119
AA Change: C27S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000086519
Gene: ENSMUSG00000094724
AA Change: C27S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Ribonuclease_T2
|
39 |
219 |
3.1e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179728
AA Change: C27S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137303
Gene: ENSMUSG00000094724
AA Change: C27S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Ribonuclease_T2
|
41 |
217 |
9.3e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231550
AA Change: C27S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232245
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232304
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.2%
- 20x: 85.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,839,629 (GRCm39) |
D180G |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,338,878 (GRCm39) |
|
probably null |
Het |
| Banp |
G |
A |
8: 122,702,656 (GRCm39) |
V30I |
possibly damaging |
Het |
| Btn2a2 |
C |
T |
13: 23,664,736 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cdhr1 |
C |
T |
14: 36,804,899 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
T |
C |
16: 44,242,780 (GRCm39) |
I728T |
possibly damaging |
Het |
| Fbn2 |
A |
G |
18: 58,203,088 (GRCm39) |
M1212T |
probably benign |
Het |
| Fmo3 |
C |
T |
1: 162,791,597 (GRCm39) |
D227N |
probably benign |
Het |
| Klk1b5 |
G |
T |
7: 43,496,422 (GRCm39) |
R118L |
probably damaging |
Het |
| Krtap4-1 |
A |
G |
11: 99,518,983 (GRCm39) |
V9A |
unknown |
Het |
| Muc5b |
A |
G |
7: 141,411,647 (GRCm39) |
N1531S |
unknown |
Het |
| Mypn |
A |
G |
10: 62,954,278 (GRCm39) |
S1234P |
probably damaging |
Het |
| Nme5 |
A |
G |
18: 34,702,949 (GRCm39) |
L113S |
probably damaging |
Het |
| Oprk1 |
T |
C |
1: 5,672,484 (GRCm39) |
V207A |
probably benign |
Het |
| Or13a20 |
A |
G |
7: 140,231,927 (GRCm39) |
T12A |
probably benign |
Het |
| Or4f52 |
T |
C |
2: 111,061,958 (GRCm39) |
Y60C |
probably damaging |
Het |
| Otop2 |
A |
G |
11: 115,215,469 (GRCm39) |
E130G |
possibly damaging |
Het |
| Pard6a |
A |
G |
8: 106,429,023 (GRCm39) |
K78R |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,840,809 (GRCm39) |
L1637H |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Speer4a1 |
T |
C |
5: 26,240,123 (GRCm39) |
|
probably null |
Het |
| Srsf4 |
A |
G |
4: 131,628,370 (GRCm39) |
|
probably benign |
Het |
| Syt11 |
G |
A |
3: 88,655,147 (GRCm39) |
R79C |
probably damaging |
Het |
| Tbx3 |
T |
C |
5: 119,819,018 (GRCm39) |
V531A |
probably benign |
Het |
| Tmem132d |
T |
A |
5: 127,861,934 (GRCm39) |
D729V |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
|
| Other mutations in Rnaset2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02428:Rnaset2b
|
APN |
17 |
7,248,568 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1238:Rnaset2b
|
UTSW |
17 |
7,256,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Rnaset2b
|
UTSW |
17 |
7,248,506 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1987:Rnaset2b
|
UTSW |
17 |
7,263,876 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4488:Rnaset2b
|
UTSW |
17 |
7,265,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Rnaset2b
|
UTSW |
17 |
7,259,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6081:Rnaset2b
|
UTSW |
17 |
7,256,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6362:Rnaset2b
|
UTSW |
17 |
7,259,093 (GRCm39) |
missense |
probably benign |
|
|
R7312:Rnaset2b
|
UTSW |
17 |
7,265,427 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7319:Rnaset2b
|
UTSW |
17 |
7,259,166 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7535:Rnaset2b
|
UTSW |
17 |
7,259,138 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8482:Rnaset2b
|
UTSW |
17 |
7,263,908 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9655:Rnaset2b
|
UTSW |
17 |
7,259,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Rnaset2b
|
UTSW |
17 |
7,259,185 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1177:Rnaset2b
|
UTSW |
17 |
7,252,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGTGTCTGTCAGGTCCGAAG -3'
(R):5'- CCCGTTGTTCCAGAGAGAACCAAG -3'
Sequencing Primer
(F):5'- ACTGATCCCTTCGGAAGGC -3'
(R):5'- CAGAGAGAACCAAGGGGCG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation