Incidental Mutation 'R4508:Rnh1'
| ID |
331071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnh1
|
| Ensembl Gene |
ENSMUSG00000038650 |
| Gene Name |
ribonuclease/angiogenin inhibitor 1 |
| Synonyms |
RNH |
| MMRRC Submission |
041757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R4508 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140740239-140752764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140744456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 73
(Q73R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106033]
[ENSMUST00000167493]
[ENSMUST00000209378]
[ENSMUST00000210314]
[ENSMUST00000210979]
|
| AlphaFold |
Q91VI7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106033
AA Change: Q73R
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101651
Gene: ENSMUSG00000038650
AA Change: Q73R
| 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: Q73R
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133061
Gene: ENSMUSG00000038650
AA Change: Q73R
| 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: ENSMUST00000209378
AA Change: Q73R
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210314
AA Change: Q109R
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210979
AA Change: Q73R
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1452 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
100% (50/50) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
G |
2: 150,746,275 (GRCm39) |
|
probably benign |
Het |
| Amer3 |
A |
G |
1: 34,627,380 (GRCm39) |
R540G |
probably benign |
Het |
| Ank |
C |
T |
15: 27,565,063 (GRCm39) |
R255W |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,728,200 (GRCm39) |
I629L |
probably damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,387 (GRCm39) |
N194Y |
probably damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,095 (GRCm39) |
T253A |
possibly damaging |
Het |
| Ccdc40 |
C |
A |
11: 119,133,335 (GRCm39) |
D534E |
probably damaging |
Het |
| Chrna2 |
C |
A |
14: 66,383,902 (GRCm39) |
N106K |
probably damaging |
Het |
| Clec2f |
C |
A |
6: 128,997,474 (GRCm39) |
|
noncoding transcript |
Het |
| Cnnm2 |
G |
A |
19: 46,865,709 (GRCm39) |
D766N |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,906,943 (GRCm39) |
|
probably null |
Het |
| Ddc |
C |
T |
11: 11,769,393 (GRCm39) |
|
probably null |
Het |
| Doc2g |
G |
A |
19: 4,054,036 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,481 (GRCm39) |
T1334A |
unknown |
Het |
| Epdr1 |
T |
C |
13: 19,778,659 (GRCm39) |
I44V |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 62,989,679 (GRCm39) |
I209N |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,323,764 (GRCm39) |
V163A |
probably benign |
Het |
| Get1 |
T |
A |
16: 95,946,899 (GRCm39) |
|
probably benign |
Het |
| Gldc |
G |
T |
19: 30,120,807 (GRCm39) |
Q375K |
probably damaging |
Het |
| Hc |
A |
C |
2: 34,903,077 (GRCm39) |
V1058G |
possibly damaging |
Het |
| Hydin |
T |
A |
8: 111,245,886 (GRCm39) |
S2200T |
possibly damaging |
Het |
| Kcnc1 |
C |
T |
7: 46,077,712 (GRCm39) |
P505S |
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,834,048 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
A |
G |
11: 100,333,002 (GRCm39) |
E49G |
possibly damaging |
Het |
| Lhx5 |
T |
C |
5: 120,573,499 (GRCm39) |
S161P |
probably damaging |
Het |
| Lilra6 |
G |
T |
7: 3,915,028 (GRCm39) |
Y455* |
probably null |
Het |
| Lzts1 |
C |
T |
8: 69,588,270 (GRCm39) |
R562H |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,356 (GRCm39) |
|
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,251,317 (GRCm39) |
Q74* |
probably null |
Het |
| Or4f56 |
A |
C |
2: 111,703,947 (GRCm39) |
D84E |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,138 (GRCm39) |
V30E |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,633,385 (GRCm39) |
|
probably null |
Het |
| Ptpre |
T |
C |
7: 135,270,832 (GRCm39) |
L329P |
probably damaging |
Het |
| Scly |
G |
A |
1: 91,236,047 (GRCm39) |
V100I |
possibly damaging |
Het |
| Sos2 |
A |
T |
12: 69,682,435 (GRCm39) |
L261* |
probably null |
Het |
| Sp1 |
A |
C |
15: 102,317,747 (GRCm39) |
Q422P |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,800,741 (GRCm39) |
F468Y |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,172 (GRCm39) |
Y2662C |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tmprss2 |
C |
A |
16: 97,371,627 (GRCm39) |
G281C |
probably damaging |
Het |
| Tmprss6 |
A |
T |
15: 78,343,978 (GRCm39) |
Y183N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,580,684 (GRCm39) |
L23403Q |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,296,084 (GRCm39) |
N5D |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,709,819 (GRCm39) |
D1922G |
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 |
|
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'- ATGTCCTGGCTAAAGCTGCG -3'
(R):5'- AATTCCTCGGCTCTGGATGG -3'
Sequencing Primer
(F):5'- TGCGGTGCCTATCACTACAAG -3'
(R):5'- CCAGCTGTTTTGTGAGACTGAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation