Incidental Mutation 'R4107:Rnasel'
| ID |
321409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnasel
|
| Ensembl Gene |
ENSMUSG00000066800 |
| Gene Name |
ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent) |
| Synonyms |
2-5A-dependent RNAase, E230029I04Rik |
| MMRRC Submission |
040986-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R4107 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
153625172-153639967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 153630542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 353
(T353A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086209]
[ENSMUST00000182538]
[ENSMUST00000182722]
[ENSMUST00000183241]
|
| AlphaFold |
Q05921 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086209
AA Change: T353A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000083385
Gene: ENSMUSG00000066800
AA Change: T353A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
24 |
53 |
6.07e0 |
SMART |
|
ANK
|
58 |
87 |
6.65e-6 |
SMART |
|
ANK
|
91 |
120 |
2.73e-2 |
SMART |
|
ANK
|
124 |
153 |
2.13e-4 |
SMART |
|
ANK
|
167 |
197 |
6.36e-3 |
SMART |
|
ANK
|
201 |
234 |
1.06e1 |
SMART |
|
ANK
|
238 |
268 |
4.13e-2 |
SMART |
|
ANK
|
272 |
301 |
7.3e-3 |
SMART |
|
Pfam:Pkinase
|
365 |
521 |
4.9e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
365 |
523 |
6.1e-14 |
PFAM |
|
Pfam:Kdo
|
451 |
546 |
8e-8 |
PFAM |
|
PUG
|
656 |
707 |
2.33e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182131
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182538
|
| SMART Domains |
Protein: ENSMUSP00000138734
Gene: ENSMUSG00000066800
| Domain | Start | End | E-Value | Type |
|---|
|
PUG
|
148 |
199 |
2.33e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182722
AA Change: T353A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138247
Gene: ENSMUSG00000066800
AA Change: T353A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
24 |
53 |
6.07e0 |
SMART |
|
ANK
|
58 |
87 |
6.65e-6 |
SMART |
|
ANK
|
91 |
120 |
2.73e-2 |
SMART |
|
ANK
|
124 |
153 |
2.13e-4 |
SMART |
|
ANK
|
167 |
197 |
6.36e-3 |
SMART |
|
ANK
|
201 |
234 |
1.06e1 |
SMART |
|
ANK
|
238 |
268 |
4.13e-2 |
SMART |
|
ANK
|
272 |
301 |
7.3e-3 |
SMART |
|
Pfam:Pkinase_Tyr
|
364 |
523 |
2.4e-13 |
PFAM |
|
Pfam:Pkinase
|
365 |
520 |
2.1e-18 |
PFAM |
|
Pfam:Kdo
|
452 |
546 |
9.3e-7 |
PFAM |
|
Pfam:Ribonuc_2-5A
|
589 |
651 |
2.9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183241
AA Change: T353A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000138752
Gene: ENSMUSG00000066800
AA Change: T353A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
24 |
53 |
6.07e0 |
SMART |
|
ANK
|
58 |
87 |
6.65e-6 |
SMART |
|
ANK
|
91 |
120 |
2.73e-2 |
SMART |
|
ANK
|
124 |
153 |
2.13e-4 |
SMART |
|
ANK
|
167 |
197 |
6.36e-3 |
SMART |
|
ANK
|
201 |
234 |
1.06e1 |
SMART |
|
ANK
|
238 |
268 |
4.13e-2 |
SMART |
|
ANK
|
272 |
301 |
7.3e-3 |
SMART |
|
Pfam:Pkinase_Tyr
|
364 |
523 |
2.6e-13 |
PFAM |
|
Pfam:Pkinase
|
365 |
517 |
2.4e-18 |
PFAM |
|
Pfam:Kdo
|
452 |
546 |
9.7e-7 |
PFAM |
|
Pfam:Ribonuc_2-5A
|
589 |
674 |
1.7e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187415
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have an enlarged spleen and increased succeptibility to viral infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
| Acox3 |
T |
C |
5: 35,758,896 (GRCm39) |
F369S |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,293,720 (GRCm39) |
V504M |
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,879,628 (GRCm39) |
L480P |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cox5b-ps |
T |
C |
13: 21,685,507 (GRCm39) |
T28A |
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
| Enc1 |
C |
A |
13: 97,381,646 (GRCm39) |
A52E |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,064,670 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
T |
G |
2: 79,475,175 (GRCm39) |
L378R |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,503,918 (GRCm39) |
S3797P |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,900,661 (GRCm39) |
I253N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mta3 |
A |
G |
17: 84,070,343 (GRCm39) |
D16G |
probably benign |
Het |
| Nlrp4f |
C |
A |
13: 65,330,879 (GRCm39) |
C838F |
probably benign |
Het |
| Or5aq7 |
T |
A |
2: 86,937,999 (GRCm39) |
H244L |
probably damaging |
Het |
| Pou4f3 |
A |
G |
18: 42,528,987 (GRCm39) |
K310R |
probably damaging |
Het |
| Reln |
C |
A |
5: 22,239,582 (GRCm39) |
C895F |
probably damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,186,424 (GRCm39) |
L320P |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Stbd1 |
A |
G |
5: 92,753,139 (GRCm39) |
R210G |
probably benign |
Het |
| Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Trim68 |
G |
T |
7: 102,327,658 (GRCm39) |
H432N |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,569,485 (GRCm39) |
Q18809R |
probably damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,153 (GRCm39) |
I203T |
possibly damaging |
Het |
| Zfp407 |
T |
A |
18: 84,361,132 (GRCm39) |
T1721S |
possibly damaging |
Het |
|
| Other mutations in Rnasel |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Rnasel
|
APN |
1 |
153,634,130 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02662:Rnasel
|
APN |
1 |
153,629,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03215:Rnasel
|
APN |
1 |
153,634,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Rnasel
|
UTSW |
1 |
153,636,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Rnasel
|
UTSW |
1 |
153,636,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0028:Rnasel
|
UTSW |
1 |
153,630,465 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0116:Rnasel
|
UTSW |
1 |
153,630,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0981:Rnasel
|
UTSW |
1 |
153,635,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1523:Rnasel
|
UTSW |
1 |
153,631,759 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1538:Rnasel
|
UTSW |
1 |
153,636,540 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1646:Rnasel
|
UTSW |
1 |
153,630,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Rnasel
|
UTSW |
1 |
153,630,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1843:Rnasel
|
UTSW |
1 |
153,630,420 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2158:Rnasel
|
UTSW |
1 |
153,630,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2434:Rnasel
|
UTSW |
1 |
153,630,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2895:Rnasel
|
UTSW |
1 |
153,636,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Rnasel
|
UTSW |
1 |
153,629,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5015:Rnasel
|
UTSW |
1 |
153,629,843 (GRCm39) |
nonsense |
probably null |
|
|
R5540:Rnasel
|
UTSW |
1 |
153,630,890 (GRCm39) |
nonsense |
probably null |
|
|
R5688:Rnasel
|
UTSW |
1 |
153,629,452 (GRCm39) |
start gained |
probably benign |
|
|
R5955:Rnasel
|
UTSW |
1 |
153,630,146 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6131:Rnasel
|
UTSW |
1 |
153,630,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Rnasel
|
UTSW |
1 |
153,630,138 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6395:Rnasel
|
UTSW |
1 |
153,637,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6483:Rnasel
|
UTSW |
1 |
153,630,432 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7470:Rnasel
|
UTSW |
1 |
153,629,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7538:Rnasel
|
UTSW |
1 |
153,630,306 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8310:Rnasel
|
UTSW |
1 |
153,630,734 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8804:Rnasel
|
UTSW |
1 |
153,629,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8813:Rnasel
|
UTSW |
1 |
153,629,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Rnasel
|
UTSW |
1 |
153,630,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9239:Rnasel
|
UTSW |
1 |
153,630,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Rnasel
|
UTSW |
1 |
153,630,673 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTGCTAATTGCTGTTGATAAAC -3'
(R):5'- TCCCGCAGACAAGAGACTTC -3'
Sequencing Primer
(F):5'- CCAGTTGCTTCTTGAAAAGGGAGC -3'
(R):5'- AGAGACTTCCTTACATCCACGTGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation