Incidental Mutation 'IGL03156:Rnh1'
| ID |
411274 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnh1
|
| Ensembl Gene |
ENSMUSG00000038650 |
| Gene Name |
ribonuclease/angiogenin inhibitor 1 |
| Synonyms |
RNH |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL03156
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140740239-140752764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140743096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 268
(N268S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106033]
[ENSMUST00000167493]
[ENSMUST00000209378]
[ENSMUST00000210314]
[ENSMUST00000210979]
|
| AlphaFold |
Q91VI7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106033
AA Change: N232S
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101651
Gene: ENSMUSG00000038650
AA Change: N232S
| 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 |
possibly damaging
Transcript: ENSMUST00000167493
AA Change: N232S
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133061
Gene: ENSMUSG00000038650
AA Change: N232S
| 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
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210314
AA Change: N268S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210979
|
| Coding Region Coverage |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,023,074 (GRCm39) |
I70T |
possibly damaging |
Het |
| Acot11 |
A |
G |
4: 106,611,333 (GRCm39) |
Y365H |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,544 (GRCm39) |
V947A |
probably benign |
Het |
| Ccdc159 |
G |
T |
9: 21,840,771 (GRCm39) |
V113L |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,733,788 (GRCm39) |
D3035G |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,719,672 (GRCm39) |
I433F |
probably damaging |
Het |
| Cntn5 |
T |
C |
9: 9,673,882 (GRCm39) |
Y740C |
probably damaging |
Het |
| Dennd5a |
C |
A |
7: 109,518,462 (GRCm39) |
|
probably benign |
Het |
| Des |
G |
A |
1: 75,339,640 (GRCm39) |
E333K |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,644,983 (GRCm39) |
R1018G |
probably damaging |
Het |
| Eif2b2 |
G |
T |
12: 85,266,495 (GRCm39) |
A54S |
probably damaging |
Het |
| Gm7276 |
C |
T |
18: 77,273,299 (GRCm39) |
|
probably benign |
Het |
| Hsbp1l1 |
A |
G |
18: 80,278,734 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
G |
A |
13: 49,856,655 (GRCm39) |
G303S |
possibly damaging |
Het |
| Il18r1 |
A |
G |
1: 40,537,528 (GRCm39) |
E431G |
possibly damaging |
Het |
| Lrrc14b |
A |
G |
13: 74,512,023 (GRCm39) |
V19A |
probably benign |
Het |
| Map1lc3a |
T |
A |
2: 155,118,929 (GRCm39) |
I31N |
probably damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,083,114 (GRCm39) |
I102K |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,945,722 (GRCm39) |
Y4163C |
probably damaging |
Het |
| Or5p6 |
T |
A |
7: 107,631,558 (GRCm39) |
|
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,070 (GRCm39) |
T632A |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,030,757 (GRCm39) |
D12G |
possibly damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,174,595 (GRCm39) |
L71P |
possibly damaging |
Het |
| Ptgs2 |
T |
G |
1: 149,981,228 (GRCm39) |
F504V |
probably damaging |
Het |
| Rimbp2 |
T |
G |
5: 128,848,821 (GRCm39) |
R908S |
probably damaging |
Het |
| Sap30l |
T |
C |
11: 57,696,994 (GRCm39) |
|
probably null |
Het |
| Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,158 (GRCm39) |
Y158C |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,148,286 (GRCm39) |
D148E |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,379,451 (GRCm39) |
D232G |
probably benign |
Het |
| Zan |
T |
A |
5: 137,462,201 (GRCm39) |
T993S |
unknown |
Het |
| Zfp236 |
G |
A |
18: 82,698,827 (GRCm39) |
L85F |
probably damaging |
Het |
| Zfp352 |
G |
A |
4: 90,112,324 (GRCm39) |
D155N |
possibly damaging |
Het |
| Zfp867 |
T |
C |
11: 59,355,834 (GRCm39) |
|
probably benign |
Het |
| Zmiz2 |
T |
C |
11: 6,349,536 (GRCm39) |
F399L |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation