Incidental Mutation 'R0981:Rnasel'
| ID |
97112 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R0981 (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 G
at 153635345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 608
(C608G)
|
| 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: C608G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000083385
Gene: ENSMUSG00000066800
AA Change: C608G
| 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
AA Change: C100G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138734
Gene: ENSMUSG00000066800
AA Change: C100G
| Domain | Start | End | E-Value | Type |
|---|
|
PUG
|
148 |
199 |
2.33e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182722
AA Change: C608G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000138247
Gene: ENSMUSG00000066800
AA Change: C608G
| 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: C608G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138752
Gene: ENSMUSG00000066800
AA Change: C608G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.4%
- 20x: 89.6%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,831,257 (GRCm39) |
C942S |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,051 (GRCm39) |
N984S |
possibly damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,315,961 (GRCm39) |
S960P |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,851,491 (GRCm39) |
N66K |
probably damaging |
Het |
| Cckar |
C |
T |
5: 53,863,632 (GRCm39) |
G39R |
probably damaging |
Het |
| Cimap1a |
A |
G |
7: 140,428,208 (GRCm39) |
M7V |
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Cpb1 |
C |
A |
3: 20,329,654 (GRCm39) |
R24L |
probably benign |
Het |
| Dlg5 |
T |
G |
14: 24,204,699 (GRCm39) |
R1258S |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,054,914 (GRCm39) |
Q148R |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,784,535 (GRCm39) |
Y198* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,588 (GRCm39) |
|
probably null |
Het |
| Glis1 |
A |
G |
4: 107,472,239 (GRCm39) |
E272G |
probably damaging |
Het |
| Gm13741 |
T |
C |
2: 87,486,578 (GRCm39) |
N229S |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,763,922 (GRCm39) |
I392F |
probably damaging |
Het |
| H2-M2 |
T |
C |
17: 37,793,521 (GRCm39) |
T162A |
probably benign |
Het |
| Hk2 |
G |
A |
6: 82,720,949 (GRCm39) |
R190W |
probably damaging |
Het |
| Irf1 |
T |
C |
11: 53,664,548 (GRCm39) |
*52R |
probably null |
Het |
| Lman2l |
T |
A |
1: 36,484,314 (GRCm39) |
M1L |
unknown |
Het |
| Mgat1 |
C |
T |
11: 49,151,882 (GRCm39) |
R122C |
probably damaging |
Het |
| Mtrf1 |
T |
C |
14: 79,639,030 (GRCm39) |
L54S |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,178,873 (GRCm39) |
L676F |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,226,174 (GRCm39) |
I786T |
probably damaging |
Het |
| Or5p64 |
AGGT |
A |
7: 107,855,228 (GRCm39) |
|
probably benign |
Het |
| Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
| Pfn1 |
G |
A |
11: 70,542,964 (GRCm39) |
R137C |
probably benign |
Het |
| Pgbd5 |
G |
A |
8: 125,111,032 (GRCm39) |
R129* |
probably null |
Het |
| Pibf1 |
T |
C |
14: 99,388,179 (GRCm39) |
|
probably null |
Het |
| Pkd2l1 |
A |
G |
19: 44,142,861 (GRCm39) |
|
probably null |
Het |
| Plin5 |
C |
A |
17: 56,421,020 (GRCm39) |
R215L |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,533,550 (GRCm39) |
|
probably benign |
Het |
| Slc28a2 |
T |
A |
2: 122,281,465 (GRCm39) |
V218D |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 66,016,841 (GRCm39) |
I29V |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,752,000 (GRCm39) |
W939R |
probably damaging |
Het |
| Tmem237 |
C |
A |
1: 59,157,164 (GRCm39) |
R15L |
probably damaging |
Het |
| Tmx3 |
T |
C |
18: 90,555,324 (GRCm39) |
V347A |
probably benign |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,389 (GRCm39) |
T122A |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,869,049 (GRCm39) |
N326K |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,475,528 (GRCm39) |
L642P |
probably benign |
Het |
| Zfp808 |
C |
A |
13: 62,319,487 (GRCm39) |
H239N |
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 |
|
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 |
|
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'- AGCAGGCCCACGCTTTTCTC -3'
(R):5'- GTTCACTTCCTGGTAGCAGCAACA -3'
Sequencing Primer
(F):5'- tgtttttgtttttgttgttgttgttg -3'
(R):5'- AGAAGCTAAGTGTGCCTACC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation