Incidental Mutation 'R5581:Rnh1'
| ID |
438464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnh1
|
| Ensembl Gene |
ENSMUSG00000038650 |
| Gene Name |
ribonuclease/angiogenin inhibitor 1 |
| Synonyms |
RNH |
| MMRRC Submission |
043135-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R5581 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140740239-140752764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140743294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 191
(D191G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106033]
[ENSMUST00000167493]
[ENSMUST00000209378]
[ENSMUST00000210314]
[ENSMUST00000210979]
|
| AlphaFold |
Q91VI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106033
AA Change: D191G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000101651
Gene: ENSMUSG00000038650
AA Change: D191G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LRR
|
22 |
49 |
3e-7 |
BLAST |
|
LRR
|
50 |
77 |
2.95e-3 |
SMART |
|
LRR
|
79 |
106 |
1.95e-3 |
SMART |
|
LRR_RI
|
107 |
134 |
1.36e-7 |
SMART |
|
LRR
|
136 |
163 |
7.15e-2 |
SMART |
|
LRR
|
164 |
191 |
2.65e-5 |
SMART |
|
LRR
|
193 |
220 |
4.24e-1 |
SMART |
|
LRR
|
221 |
248 |
4.94e-5 |
SMART |
|
LRR
|
250 |
277 |
2.34e-6 |
SMART |
|
LRR
|
278 |
305 |
1.15e-5 |
SMART |
|
LRR
|
307 |
334 |
8e0 |
SMART |
|
LRR
|
335 |
362 |
4.75e-7 |
SMART |
|
LRR
|
364 |
391 |
1.12e-3 |
SMART |
|
LRR
|
392 |
419 |
6.17e-6 |
SMART |
|
low complexity region
|
437 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167493
AA Change: D191G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000133061
Gene: ENSMUSG00000038650
AA Change: D191G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LRR
|
22 |
49 |
3e-7 |
BLAST |
|
LRR
|
50 |
77 |
2.95e-3 |
SMART |
|
LRR
|
79 |
106 |
1.95e-3 |
SMART |
|
LRR_RI
|
107 |
134 |
1.36e-7 |
SMART |
|
LRR
|
136 |
163 |
7.15e-2 |
SMART |
|
LRR
|
164 |
191 |
2.65e-5 |
SMART |
|
LRR
|
193 |
220 |
4.24e-1 |
SMART |
|
LRR
|
221 |
248 |
4.94e-5 |
SMART |
|
LRR
|
250 |
277 |
2.34e-6 |
SMART |
|
LRR
|
278 |
305 |
1.15e-5 |
SMART |
|
LRR
|
307 |
334 |
8e0 |
SMART |
|
LRR
|
335 |
362 |
4.75e-7 |
SMART |
|
LRR
|
364 |
391 |
1.12e-3 |
SMART |
|
LRR
|
392 |
419 |
6.17e-6 |
SMART |
|
low complexity region
|
437 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209378
AA Change: D191G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210314
AA Change: D227G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210979
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appbp2 |
G |
C |
11: 85,100,921 (GRCm39) |
R173G |
possibly damaging |
Het |
| Bcl11a |
A |
G |
11: 24,113,932 (GRCm39) |
K425R |
probably damaging |
Het |
| Casr |
A |
G |
16: 36,315,106 (GRCm39) |
M911T |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,415,377 (GRCm39) |
A1205V |
probably benign |
Het |
| Chfr |
T |
C |
5: 110,301,148 (GRCm39) |
|
probably null |
Het |
| Dixdc1 |
A |
G |
9: 50,580,780 (GRCm39) |
L638P |
probably damaging |
Het |
| Filip1 |
C |
T |
9: 79,727,042 (GRCm39) |
V526M |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,828,472 (GRCm39) |
D6756E |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Lvrn |
A |
G |
18: 47,023,932 (GRCm39) |
T760A |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,216,411 (GRCm39) |
M1256L |
probably benign |
Het |
| Ndufb11b |
T |
C |
15: 81,865,037 (GRCm39) |
S93P |
probably damaging |
Het |
| Or8g17 |
T |
A |
9: 38,929,998 (GRCm39) |
I280F |
probably damaging |
Het |
| Pdia5 |
T |
C |
16: 35,269,812 (GRCm39) |
R166G |
probably benign |
Het |
| Plcz1 |
A |
G |
6: 139,968,851 (GRCm39) |
Y196H |
probably damaging |
Het |
| Ptpn12 |
T |
A |
5: 21,220,724 (GRCm39) |
E135D |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,605,102 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
G |
12: 75,991,859 (GRCm39) |
D1941E |
probably benign |
Het |
| Thsd4 |
C |
A |
9: 59,879,741 (GRCm39) |
A639S |
possibly damaging |
Het |
|
| Other mutations in Rnh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Rnh1
|
APN |
7 |
140,746,644 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01016:Rnh1
|
APN |
7 |
140,744,409 (GRCm39) |
splice site |
probably benign |
|
|
IGL03156:Rnh1
|
APN |
7 |
140,743,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Rnh1
|
UTSW |
7 |
140,744,109 (GRCm39) |
splice site |
probably null |
|
|
R0456:Rnh1
|
UTSW |
7 |
140,742,461 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1086:Rnh1
|
UTSW |
7 |
140,743,282 (GRCm39) |
missense |
probably benign |
|
|
R1223:Rnh1
|
UTSW |
7 |
140,743,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Rnh1
|
UTSW |
7 |
140,743,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1771:Rnh1
|
UTSW |
7 |
140,744,519 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4508:Rnh1
|
UTSW |
7 |
140,744,456 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5348:Rnh1
|
UTSW |
7 |
140,743,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6752:Rnh1
|
UTSW |
7 |
140,743,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6932:Rnh1
|
UTSW |
7 |
140,743,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Rnh1
|
UTSW |
7 |
140,740,725 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8152:Rnh1
|
UTSW |
7 |
140,740,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Rnh1
|
UTSW |
7 |
140,748,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8791:Rnh1
|
UTSW |
7 |
140,742,346 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9018:Rnh1
|
UTSW |
7 |
140,748,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9248:Rnh1
|
UTSW |
7 |
140,740,714 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTTGCTGCTCAAGTCCAG -3'
(R):5'- CCCTGATACTGCACTTCTAGAC -3'
Sequencing Primer
(F):5'- TCAAGTCCAGTTCCTGTAGCGAAG -3'
(R):5'- GATACTGCACTTCTAGACCTATCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation