Incidental Mutation 'R8791:Rnh1'
| ID |
670945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnh1
|
| Ensembl Gene |
ENSMUSG00000038650 |
| Gene Name |
ribonuclease/angiogenin inhibitor 1 |
| Synonyms |
RNH |
| MMRRC Submission |
068609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R8791 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140740239-140752764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140742346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 404
(R404H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026568]
[ENSMUST00000106033]
[ENSMUST00000167493]
[ENSMUST00000209378]
[ENSMUST00000210314]
[ENSMUST00000210979]
|
| AlphaFold |
Q91VI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026568
|
| SMART Domains |
Protein: ENSMUSP00000026568
Gene: ENSMUSG00000025495
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
90 |
N/A |
INTRINSIC |
|
Pfam:PSS
|
98 |
378 |
1.8e-113 |
PFAM |
|
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106033
AA Change: R368H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101651
Gene: ENSMUSG00000038650
AA Change: R368H
| 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 damaging
Transcript: ENSMUST00000167493
AA Change: R368H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133061
Gene: ENSMUSG00000038650
AA Change: R368H
| 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 benign
Transcript: ENSMUST00000210314
AA Change: R404H
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210979
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
G |
T |
2: 103,823,022 (GRCm39) |
T87K |
possibly damaging |
Het |
| Adar |
G |
A |
3: 89,643,445 (GRCm39) |
R442Q |
probably benign |
Het |
| Agtr1b |
T |
A |
3: 20,370,280 (GRCm39) |
S109C |
probably damaging |
Het |
| Akr1c6 |
T |
A |
13: 4,499,373 (GRCm39) |
Y248N |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,438,597 (GRCm39) |
V932E |
probably benign |
Het |
| Apba3 |
T |
A |
10: 81,105,104 (GRCm39) |
S126T |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,466,061 (GRCm39) |
S1942T |
possibly damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,596,552 (GRCm39) |
C20Y |
probably damaging |
Het |
| Cd63 |
C |
A |
10: 128,748,071 (GRCm39) |
N156K |
probably benign |
Het |
| Clvs1 |
A |
G |
4: 9,429,807 (GRCm39) |
E270G |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,216,744 (GRCm39) |
Y654C |
probably damaging |
Het |
| Dgki |
A |
T |
6: 36,996,875 (GRCm39) |
D574E |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,517,056 (GRCm39) |
S63G |
probably damaging |
Het |
| Exoc1 |
C |
T |
5: 76,683,412 (GRCm39) |
R46C |
probably damaging |
Het |
| Fcgr4 |
C |
A |
1: 170,847,477 (GRCm39) |
A25D |
probably damaging |
Het |
| Fgf4 |
T |
C |
7: 144,415,408 (GRCm39) |
V56A |
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,714,043 (GRCm39) |
I267V |
probably benign |
Het |
| Gm20939 |
A |
C |
17: 95,184,648 (GRCm39) |
H432P |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,242,739 (GRCm39) |
L35Q |
probably damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Ildr1 |
T |
C |
16: 36,528,762 (GRCm39) |
I69T |
probably damaging |
Het |
| Lrfn1 |
A |
G |
7: 28,159,344 (GRCm39) |
D421G |
probably benign |
Het |
| Mmp15 |
C |
T |
8: 96,096,288 (GRCm39) |
Q360* |
probably null |
Het |
| Nfatc2 |
T |
C |
2: 168,378,214 (GRCm39) |
K484E |
probably damaging |
Het |
| Nkpd1 |
G |
C |
7: 19,258,095 (GRCm39) |
V625L |
probably benign |
Het |
| Nlrp4a |
C |
A |
7: 26,143,561 (GRCm39) |
|
probably benign |
Het |
| Nme9 |
T |
A |
9: 99,350,301 (GRCm39) |
I178N |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,788,356 (GRCm39) |
T352I |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,686,990 (GRCm39) |
I723V |
probably damaging |
Het |
| Or5p50 |
C |
T |
7: 107,422,557 (GRCm39) |
V40M |
possibly damaging |
Het |
| Pias3 |
C |
A |
3: 96,612,201 (GRCm39) |
Q553K |
probably benign |
Het |
| Pnp2 |
T |
G |
14: 51,200,873 (GRCm39) |
H119Q |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,459,295 (GRCm39) |
D156E |
probably benign |
Het |
| Rint1 |
T |
C |
5: 24,005,594 (GRCm39) |
V92A |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,993 (GRCm39) |
M1K |
probably null |
Het |
| Slc4a8 |
T |
C |
15: 100,705,134 (GRCm39) |
V832A |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,537,678 (GRCm39) |
C167S |
probably benign |
Het |
| Spart |
A |
G |
3: 55,029,100 (GRCm39) |
D297G |
probably benign |
Het |
| Spata13 |
C |
T |
14: 60,929,275 (GRCm39) |
R278C |
probably damaging |
Het |
| Tmc1 |
T |
C |
19: 20,767,209 (GRCm39) |
T716A |
probably benign |
Het |
| Tpi1 |
A |
G |
6: 124,789,483 (GRCm39) |
V164A |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,002 (GRCm39) |
S345G |
probably benign |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,687 (GRCm39) |
L327Q |
probably damaging |
Het |
| Washc4 |
C |
T |
10: 83,386,748 (GRCm39) |
T124I |
probably benign |
Het |
| Wdr76 |
C |
T |
2: 121,357,484 (GRCm39) |
T180I |
probably benign |
Het |
| Zcchc8 |
T |
C |
5: 123,845,362 (GRCm39) |
N333D |
probably benign |
Het |
| Zfp516 |
T |
C |
18: 82,975,460 (GRCm39) |
S553P |
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 |
|
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 |
|
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'- TCTACATCTAGCTCACTGACCAGG -3'
(R):5'- GAAGGGCTCCTTGGAAGAACTG -3'
Sequencing Primer
(F):5'- CTGACCAGGATACACAAGAGTACTG -3'
(R):5'- GGAAGAACTGGTTCCAGCCTTTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation