Incidental Mutation 'R8813:Rnasel'
| ID |
672535 |
| 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 |
068648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R8813 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
153625172-153639967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 153629641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 52
(N52K)
|
| 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: N52K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083385
Gene: ENSMUSG00000066800
AA Change: N52K
| 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 |
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: N52K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138247
Gene: ENSMUSG00000066800
AA Change: N52K
| 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: N52K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138752
Gene: ENSMUSG00000066800
AA Change: N52K
| 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 |
|
| Meta Mutation Damage Score |
0.4824 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
96% (48/50) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
T |
C |
2: 122,482,622 (GRCm39) |
L62P |
probably damaging |
Het |
| Amotl2 |
T |
G |
9: 102,607,291 (GRCm39) |
S700A |
probably damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,549,942 (GRCm39) |
S1259P |
possibly damaging |
Het |
| Cenpj |
C |
T |
14: 56,790,355 (GRCm39) |
E565K |
probably damaging |
Het |
| Clmp |
C |
T |
9: 40,692,549 (GRCm39) |
R273* |
probably null |
Het |
| Cops7b |
A |
T |
1: 86,528,846 (GRCm39) |
Q191L |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,002,054 (GRCm39) |
F312L |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,843,266 (GRCm39) |
C169Y |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,956,498 (GRCm39) |
N724I |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,090,406 (GRCm39) |
V2831A |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,229,719 (GRCm39) |
G118W |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,104,937 (GRCm39) |
T1884K |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,947,697 (GRCm39) |
E193G |
possibly damaging |
Het |
| Efnb2 |
T |
A |
8: 8,670,731 (GRCm39) |
S290C |
probably damaging |
Het |
| Eif1ad6 |
A |
G |
12: 87,668,593 (GRCm39) |
D75G |
probably damaging |
Het |
| Eif2ak4 |
C |
A |
2: 118,278,806 (GRCm39) |
T990K |
probably damaging |
Het |
| Erich3 |
A |
G |
3: 154,468,827 (GRCm39) |
D1093G |
unknown |
Het |
| H2-DMa |
T |
C |
17: 34,354,734 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,295,216 (GRCm39) |
D36N |
probably benign |
Het |
| Kcnk13 |
G |
T |
12: 100,027,647 (GRCm39) |
G241W |
probably damaging |
Het |
| Kdm6b |
GGGTGGTGGTGGTGGTGG |
GGGTGGTGGTGGTGGTGGTGG |
11: 69,297,655 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
TGG |
TGGGGG |
11: 69,297,658 (GRCm39) |
|
probably benign |
Het |
| Klk1b5 |
G |
T |
7: 43,496,549 (GRCm39) |
M160I |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,358,073 (GRCm39) |
Y98C |
probably damaging |
Het |
| Marcksl1 |
C |
T |
4: 129,408,999 (GRCm39) |
P193S |
probably benign |
Het |
| Nup133 |
AAGAGA |
AAGA |
8: 124,638,627 (GRCm39) |
900 |
probably null |
Het |
| Nxf7 |
G |
A |
X: 134,484,515 (GRCm39) |
R513C |
possibly damaging |
Het |
| Or13a19 |
C |
A |
7: 139,902,793 (GRCm39) |
Y60* |
probably null |
Het |
| Or4a73 |
A |
T |
2: 89,420,730 (GRCm39) |
M243K |
probably benign |
Het |
| Or52e5 |
T |
A |
7: 104,719,518 (GRCm39) |
Y281* |
probably null |
Het |
| Or7g32 |
T |
G |
9: 19,389,477 (GRCm39) |
D23A |
possibly damaging |
Het |
| Or7g34 |
A |
T |
9: 19,477,895 (GRCm39) |
Y262N |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,540,242 (GRCm39) |
M965L |
probably benign |
Het |
| Parp12 |
A |
G |
6: 39,073,508 (GRCm39) |
F439S |
probably damaging |
Het |
| Pde1a |
G |
A |
2: 79,959,261 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,380,913 (GRCm39) |
N370I |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,532,812 (GRCm39) |
N1268D |
unknown |
Het |
| Pter |
T |
C |
2: 12,985,114 (GRCm39) |
V148A |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,500,027 (GRCm39) |
M540T |
probably damaging |
Het |
| Rragd |
A |
T |
4: 33,012,953 (GRCm39) |
I317F |
possibly damaging |
Het |
| Sla |
G |
T |
15: 66,664,127 (GRCm39) |
S81R |
probably benign |
Het |
| T |
A |
G |
17: 8,653,532 (GRCm39) |
E57G |
probably benign |
Het |
| Tanc1 |
T |
A |
2: 59,630,265 (GRCm39) |
F748L |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,938,136 (GRCm39) |
W3073R |
probably damaging |
Het |
| Trim33 |
A |
G |
3: 103,254,052 (GRCm39) |
T967A |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
| Trpm1 |
T |
A |
7: 63,851,756 (GRCm39) |
M158K |
possibly damaging |
Het |
| Vmn1r205 |
A |
G |
13: 22,776,424 (GRCm39) |
L226P |
probably benign |
Het |
| Vmn1r56 |
C |
T |
7: 5,198,733 (GRCm39) |
V295M |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,778,566 (GRCm39) |
D208G |
probably damaging |
Het |
| Zfp11 |
T |
C |
5: 129,735,278 (GRCm39) |
D61G |
probably benign |
Het |
| Zscan4e |
C |
A |
7: 11,041,540 (GRCm39) |
E139* |
probably null |
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 |
|
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 |
|
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'- ACGTGTGCATTTCCCAAGG -3'
(R):5'- CACACTCATTGACGTCTGCAC -3'
Sequencing Primer
(F):5'- TTCCCAAGGAAAAGGCATTGAG -3'
(R):5'- TTGACGTCTGCACCACAAGAGAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation