Incidental Mutation 'IGL02082:Rnase10'
| ID |
283400 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnase10
|
| Ensembl Gene |
ENSMUSG00000021872 |
| Gene Name |
ribonuclease, RNase A family, 10 (non-active) |
| Synonyms |
4930474F22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51245208-51248215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51246856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 41
(E41V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022424]
[ENSMUST00000164632]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022424
AA Change: E78V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022424
Gene: ENSMUSG00000021872
AA Change: E78V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
|
Pfam:RnaseA
|
132 |
244 |
2.2e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164632
AA Change: E41V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131065
Gene: ENSMUSG00000021872
AA Change: E41V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
61 |
N/A |
INTRINSIC |
|
Pfam:RnaseA
|
91 |
208 |
1.4e-21 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous disruption of this gene leads to decreased bone mineral density, alterations in B cell, T cell and NK cell number, and abnormal circulating glucose, creatinine, chloride and serum albumin levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9b |
A |
C |
18: 80,935,145 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
C |
1: 146,627,600 (GRCm39) |
C278R |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,917,320 (GRCm39) |
S47G |
unknown |
Het |
| Clec16a |
T |
C |
16: 10,432,432 (GRCm39) |
L484P |
probably damaging |
Het |
| Cnksr1 |
C |
A |
4: 133,963,363 (GRCm39) |
G71C |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,428,317 (GRCm39) |
N246I |
possibly damaging |
Het |
| Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
| Focad |
C |
T |
4: 88,148,815 (GRCm39) |
Q511* |
probably null |
Het |
| Gpr63 |
A |
G |
4: 25,008,564 (GRCm39) |
|
probably benign |
Het |
| Iah1 |
C |
A |
12: 21,367,405 (GRCm39) |
S37* |
probably null |
Het |
| Inpp4a |
T |
A |
1: 37,405,708 (GRCm39) |
|
probably benign |
Het |
| Mcm2 |
A |
T |
6: 88,865,218 (GRCm39) |
Y486* |
probably null |
Het |
| Mtmr10 |
A |
G |
7: 63,983,238 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
G |
3: 55,875,588 (GRCm39) |
L1694S |
possibly damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,590,159 (GRCm39) |
S4P |
probably benign |
Het |
| Slc17a6 |
G |
T |
7: 51,318,777 (GRCm39) |
R473L |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,970,198 (GRCm39) |
T2A |
probably benign |
Het |
| Tbc1d9b |
A |
G |
11: 50,054,709 (GRCm39) |
D951G |
probably benign |
Het |
| Tk1 |
C |
A |
11: 117,716,553 (GRCm39) |
|
probably null |
Het |
| Trim46 |
C |
A |
3: 89,146,307 (GRCm39) |
A395S |
probably benign |
Het |
| Vmn1r113 |
C |
T |
7: 20,521,672 (GRCm39) |
H155Y |
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,499 (GRCm39) |
M238T |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
|
| Other mutations in Rnase10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Rnase10
|
APN |
14 |
51,247,238 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01534:Rnase10
|
APN |
14 |
51,245,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02661:Rnase10
|
APN |
14 |
51,247,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1254:Rnase10
|
UTSW |
14 |
51,247,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1989:Rnase10
|
UTSW |
14 |
51,247,095 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3878:Rnase10
|
UTSW |
14 |
51,246,889 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5405:Rnase10
|
UTSW |
14 |
51,247,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Rnase10
|
UTSW |
14 |
51,246,735 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6107:Rnase10
|
UTSW |
14 |
51,246,751 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6994:Rnase10
|
UTSW |
14 |
51,247,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Rnase10
|
UTSW |
14 |
51,247,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Rnase10
|
UTSW |
14 |
51,247,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7848:Rnase10
|
UTSW |
14 |
51,246,970 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Posted On |
2015-04-16 |
Incidental Mutation