Incidental Mutation 'R0022:Rnasel'
| ID |
15241 |
| 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 |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
153625172-153639967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 153636521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 634
(I634F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086209]
[ENSMUST00000182538]
[ENSMUST00000182722]
[ENSMUST00000183241]
|
| AlphaFold |
Q05921 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086209
AA Change: I634F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083385
Gene: ENSMUSG00000066800
AA Change: I634F
| 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 damaging
Transcript: ENSMUST00000182538
AA Change: I126F
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138734
Gene: ENSMUSG00000066800
AA Change: I126F
| Domain | Start | End | E-Value | Type |
|---|
|
PUG
|
148 |
199 |
2.33e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182722
AA Change: I634F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138247
Gene: ENSMUSG00000066800
AA Change: I634F
| 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: I634F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138752
Gene: ENSMUSG00000066800
AA Change: I634F
| 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 |
0.6371 |
| Coding Region Coverage |
- 1x: 82.0%
- 3x: 74.9%
- 10x: 56.1%
- 20x: 37.0%
|
| Validation Efficiency |
97% (90/93) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cd244a |
A |
G |
1: 171,401,330 (GRCm39) |
D48G |
probably benign |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,470,312 (GRCm39) |
S433T |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Csf1 |
A |
T |
3: 107,661,178 (GRCm39) |
V113E |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
G |
14: 56,404,382 (GRCm39) |
S152P |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Taar1 |
G |
T |
10: 23,796,625 (GRCm39) |
A108S |
probably benign |
Het |
| Tro |
C |
G |
X: 149,430,508 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,791,654 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2012-12-12 |
Incidental Mutation