Incidental Mutation 'R1086:Rnh1'
| ID |
85029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnh1
|
| Ensembl Gene |
ENSMUSG00000038650 |
| Gene Name |
ribonuclease/angiogenin inhibitor 1 |
| Synonyms |
RNH |
| MMRRC Submission |
039172-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R1086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140740239-140752764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 140743282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 231
(Q231P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106033]
[ENSMUST00000167493]
[ENSMUST00000209378]
[ENSMUST00000210314]
[ENSMUST00000210979]
|
| AlphaFold |
Q91VI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106033
AA Change: Q195P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101651
Gene: ENSMUSG00000038650
AA Change: Q195P
| 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: Q195P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133061
Gene: ENSMUSG00000038650
AA Change: Q195P
| 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: Q195P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210314
AA Change: Q231P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210979
|
| Meta Mutation Damage Score |
0.0753 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,334,220 (GRCm39) |
|
probably benign |
Het |
| Agbl4 |
G |
C |
4: 110,335,791 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
T |
C |
15: 95,847,843 (GRCm39) |
|
probably null |
Het |
| B3gnt8 |
C |
G |
7: 25,327,736 (GRCm39) |
N55K |
probably damaging |
Het |
| Brox |
A |
G |
1: 183,064,052 (GRCm39) |
Y252H |
probably damaging |
Het |
| Cfap100 |
T |
A |
6: 90,380,890 (GRCm39) |
K605* |
probably null |
Het |
| Chd7 |
A |
G |
4: 8,866,458 (GRCm39) |
T877A |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,559,151 (GRCm39) |
I2371F |
probably damaging |
Het |
| Cwc22 |
T |
A |
2: 77,754,824 (GRCm39) |
|
probably benign |
Het |
| Cyp2s1 |
A |
T |
7: 25,505,422 (GRCm39) |
D347E |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,185,769 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
G |
A |
1: 86,917,871 (GRCm39) |
D493N |
probably benign |
Het |
| Got1l1 |
A |
G |
8: 27,688,007 (GRCm39) |
W341R |
probably damaging |
Het |
| Gps2 |
A |
G |
11: 69,806,050 (GRCm39) |
|
probably benign |
Het |
| Haus1 |
A |
C |
18: 77,854,553 (GRCm39) |
|
probably benign |
Het |
| Itgam |
T |
C |
7: 127,679,436 (GRCm39) |
S193P |
probably damaging |
Het |
| Itpr2 |
C |
A |
6: 146,251,543 (GRCm39) |
A1034S |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,699,476 (GRCm39) |
R270G |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,703 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,552,876 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,862,813 (GRCm39) |
M1387K |
probably damaging |
Het |
| Nwd2 |
C |
T |
5: 63,963,917 (GRCm39) |
S1167L |
probably damaging |
Het |
| Or5h19 |
T |
A |
16: 58,856,626 (GRCm39) |
H158L |
probably damaging |
Het |
| Pfkm |
T |
C |
15: 98,029,546 (GRCm39) |
V719A |
probably benign |
Het |
| Ppfia3 |
C |
G |
7: 45,011,182 (GRCm39) |
G16A |
probably damaging |
Het |
| Ppp2r3d |
G |
A |
9: 101,031,021 (GRCm39) |
T245I |
possibly damaging |
Het |
| Ptprd |
T |
C |
4: 76,051,495 (GRCm39) |
T256A |
probably damaging |
Het |
| Ptprg |
C |
T |
14: 11,952,706 (GRCm38) |
|
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,359,458 (GRCm39) |
V7A |
probably damaging |
Het |
| Rwdd2b |
C |
T |
16: 87,233,446 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
T |
C |
7: 46,338,883 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
G |
A |
18: 31,783,673 (GRCm39) |
|
probably benign |
Het |
| Serpina1d |
T |
G |
12: 103,730,046 (GRCm39) |
M379L |
probably benign |
Het |
| Skor2 |
A |
C |
18: 76,946,994 (GRCm39) |
S239R |
unknown |
Het |
| Slc16a13 |
A |
G |
11: 70,109,850 (GRCm39) |
L217P |
probably damaging |
Het |
| Slc18b1 |
T |
C |
10: 23,679,693 (GRCm39) |
M74T |
probably benign |
Het |
| Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,227 (GRCm39) |
E1637D |
possibly damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tg |
A |
C |
15: 66,555,911 (GRCm39) |
I868L |
probably benign |
Het |
| Ttll5 |
G |
A |
12: 85,937,853 (GRCm39) |
V395I |
possibly damaging |
Het |
| Uba6 |
C |
A |
5: 86,275,578 (GRCm39) |
C739F |
probably benign |
Het |
| Unc5d |
A |
C |
8: 29,365,658 (GRCm39) |
V109G |
possibly damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,013,000 (GRCm39) |
K507N |
probably 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 |
|
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 |
|
R5581:Rnh1
|
UTSW |
7 |
140,743,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TTTGGAGGCCACAACATCGCAC -3'
(R):5'- AGCCTGGCAGCTCTAGGTATTCAC -3'
Sequencing Primer
(F):5'- GCACAGATCCTTGCAGTTGG -3'
(R):5'- GGTATTCACTGTGCCTGAATAACC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation