Incidental Mutation 'R6081:Rnaset2b'
| ID |
482931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnaset2b
|
| Ensembl Gene |
ENSMUSG00000094724 |
| Gene Name |
ribonuclease T2B |
| Synonyms |
|
| MMRRC Submission |
044240-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6081 (G1)
|
| Quality Score |
185.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
7246259-7265592 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 7256193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089119]
[ENSMUST00000089119]
[ENSMUST00000179728]
[ENSMUST00000179728]
[ENSMUST00000231550]
[ENSMUST00000232245]
[ENSMUST00000232245]
[ENSMUST00000232304]
[ENSMUST00000232304]
|
| AlphaFold |
C0HKG5
C0HKG6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089119
|
| SMART Domains |
Protein: ENSMUSP00000086519
Gene: ENSMUSG00000094724
| 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 null
Transcript: ENSMUST00000089119
|
| SMART Domains |
Protein: ENSMUSP00000086519
Gene: ENSMUSG00000094724
| 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 null
Transcript: ENSMUST00000179728
|
| SMART Domains |
Protein: ENSMUSP00000137303
Gene: ENSMUSG00000094724
| 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 null
Transcript: ENSMUST00000179728
|
| SMART Domains |
Protein: ENSMUSP00000137303
Gene: ENSMUSG00000094724
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232106
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232245
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232245
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232304
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232304
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,887,097 (GRCm39) |
M33K |
probably damaging |
Het |
| 4930556J24Rik |
T |
C |
11: 3,888,140 (GRCm39) |
Q82R |
unknown |
Het |
| Adcy9 |
T |
C |
16: 4,112,545 (GRCm39) |
D714G |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ahctf1 |
G |
T |
1: 179,609,237 (GRCm39) |
A639E |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Anxa5 |
C |
T |
3: 36,519,436 (GRCm39) |
D18N |
probably damaging |
Het |
| Apc |
C |
T |
18: 34,423,164 (GRCm39) |
P299L |
possibly damaging |
Het |
| Btnl4 |
C |
A |
17: 34,693,210 (GRCm39) |
W68C |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,281,021 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
G |
T |
19: 31,060,523 (GRCm39) |
V20L |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,119,633 (GRCm39) |
V1703E |
probably damaging |
Het |
| Dhx32 |
A |
G |
7: 133,323,941 (GRCm39) |
F535S |
probably damaging |
Het |
| Diras2 |
T |
C |
13: 52,662,181 (GRCm39) |
D42G |
probably damaging |
Het |
| Dppa3 |
T |
A |
6: 122,606,931 (GRCm39) |
D140E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,391,086 (GRCm39) |
T205I |
probably benign |
Het |
| Gzme |
T |
G |
14: 56,355,764 (GRCm39) |
T183P |
possibly damaging |
Het |
| H2-T23 |
T |
A |
17: 36,342,707 (GRCm39) |
I144F |
possibly damaging |
Het |
| Hlx |
T |
C |
1: 184,459,894 (GRCm39) |
S415G |
probably benign |
Het |
| Krtap5-3 |
G |
A |
7: 141,755,223 (GRCm39) |
C20Y |
unknown |
Het |
| Mcm8 |
G |
T |
2: 132,670,003 (GRCm39) |
R359L |
probably benign |
Het |
| Mroh2b |
G |
C |
15: 4,973,859 (GRCm39) |
E1126Q |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,398,560 (GRCm39) |
R674H |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Samd12 |
T |
C |
15: 53,583,074 (GRCm39) |
K87E |
probably benign |
Het |
| Sec16b |
T |
C |
1: 157,388,324 (GRCm39) |
S564P |
probably benign |
Het |
| Speer4a1 |
A |
T |
5: 26,239,960 (GRCm39) |
C263* |
probably null |
Het |
| Susd1 |
C |
A |
4: 59,411,359 (GRCm39) |
C158F |
possibly damaging |
Het |
| Vmn2r6 |
C |
T |
3: 64,463,953 (GRCm39) |
V294M |
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 |
|
|
R1209:Rnaset2b
|
UTSW |
17 |
7,246,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- GCTTCATGCAGGATAAGCAC -3'
(R):5'- ATCTGTAACCTGCTGGAGAGAG -3'
Sequencing Primer
(F):5'- GCTTCATGCAGGATAAGCACAAAATC -3'
(R):5'- TAACCTGCTGGAGAGAGGTGTC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation