Incidental Mutation 'R2434:Rnasel'
| ID |
250510 |
| 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 |
040395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R2434 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
153625172-153639967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 153630396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 304
(V304A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086209]
[ENSMUST00000182538]
[ENSMUST00000182722]
[ENSMUST00000183241]
|
| AlphaFold |
Q05921 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086209
AA Change: V304A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000083385
Gene: ENSMUSG00000066800
AA Change: V304A
| 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 damaging
Transcript: ENSMUST00000182722
AA Change: V304A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138247
Gene: ENSMUSG00000066800
AA Change: V304A
| 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 damaging
Transcript: ENSMUST00000183241
AA Change: V304A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138752
Gene: ENSMUSG00000066800
AA Change: V304A
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,357 (GRCm39) |
Q493R |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,837,948 (GRCm39) |
V785A |
probably damaging |
Het |
| Capsl |
A |
T |
15: 9,462,795 (GRCm39) |
H145L |
probably damaging |
Het |
| Carns1 |
A |
C |
19: 4,215,448 (GRCm39) |
C911W |
probably damaging |
Het |
| Celsr2 |
A |
C |
3: 108,311,795 (GRCm39) |
F1351V |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,393,714 (GRCm39) |
I432V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,236,004 (GRCm39) |
I386N |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,644,074 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,752,488 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,005 (GRCm39) |
Y375H |
probably damaging |
Het |
| Fip1l1 |
C |
A |
5: 74,707,485 (GRCm39) |
T196K |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,744,439 (GRCm39) |
N484K |
probably benign |
Het |
| Foxred1 |
G |
T |
9: 35,116,954 (GRCm39) |
D345E |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,100 (GRCm39) |
N295K |
probably damaging |
Het |
| Gipc2 |
T |
A |
3: 151,843,317 (GRCm39) |
I107L |
probably benign |
Het |
| Kcnn1 |
GTCCTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTCCTC |
8: 71,307,810 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
A |
10: 115,423,311 (GRCm39) |
I30L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,554,881 (GRCm39) |
V2589E |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,392,113 (GRCm39) |
N699I |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,552 (GRCm39) |
|
probably null |
Het |
| Or11l3 |
A |
G |
11: 58,515,937 (GRCm39) |
Y312H |
possibly damaging |
Het |
| Serinc4 |
C |
T |
2: 121,286,186 (GRCm39) |
R134H |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,784,054 (GRCm39) |
Y103N |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,258,548 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
T |
A |
6: 91,712,193 (GRCm39) |
S241T |
probably benign |
Het |
| Son |
G |
T |
16: 91,451,575 (GRCm39) |
K107N |
probably damaging |
Het |
| St3gal6 |
T |
C |
16: 58,291,015 (GRCm39) |
T329A |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,805,183 (GRCm39) |
P265L |
possibly damaging |
Het |
| Tmem199 |
G |
A |
11: 78,400,570 (GRCm39) |
T119I |
probably damaging |
Het |
| Ttc14 |
A |
G |
3: 33,855,227 (GRCm39) |
D125G |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,524 (GRCm39) |
M193L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,696,881 (GRCm39) |
Y646C |
probably 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 |
|
R2895:Rnasel
|
UTSW |
1 |
153,636,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4107:Rnasel
|
UTSW |
1 |
153,630,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CAATCCTGATTCAGCACGGG -3'
(R):5'- GAAGATCTTGAGTTTGCCAATCATG -3'
Sequencing Primer
(F):5'- GCACGGGGCTGATGTTAAC -3'
(R):5'- CCAATCATGGGTCGAGTCATACTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation