Incidental Mutation 'IGL00161:Rnase10'
ID |
968 |
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 # |
IGL00161
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
51245208-51248215 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 51247238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 168
(D168E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131065
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022424]
[ENSMUST00000164632]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022424
AA Change: D205E
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000022424 Gene: ENSMUSG00000021872 AA Change: D205E
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 |
possibly damaging
Transcript: ENSMUST00000164632
AA Change: D168E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000131065 Gene: ENSMUSG00000021872 AA Change: D168E
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
A |
7: 75,375,719 (GRCm39) |
V1932E |
probably damaging |
Het |
Alg3 |
A |
G |
16: 20,426,608 (GRCm39) |
V211A |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,992,309 (GRCm39) |
T1148A |
probably benign |
Het |
Dmbt1 |
G |
T |
7: 130,711,357 (GRCm39) |
D1538Y |
probably damaging |
Het |
Fbxl20 |
C |
T |
11: 97,981,500 (GRCm39) |
G396D |
possibly damaging |
Het |
Gsto2 |
A |
G |
19: 47,863,406 (GRCm39) |
D94G |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,932,877 (GRCm39) |
I882V |
probably benign |
Het |
Ltbp1 |
C |
T |
17: 75,617,147 (GRCm39) |
|
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
A |
C |
11: 71,072,007 (GRCm39) |
|
probably benign |
Het |
Notch3 |
A |
T |
17: 32,377,088 (GRCm39) |
C272* |
probably null |
Het |
Or4c123 |
A |
G |
2: 89,126,799 (GRCm39) |
C272R |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,096,388 (GRCm39) |
K305E |
possibly damaging |
Het |
Pard3 |
A |
G |
8: 128,086,299 (GRCm39) |
|
probably benign |
Het |
Pcsk4 |
A |
G |
10: 80,158,657 (GRCm39) |
Y532H |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,879,353 (GRCm39) |
|
probably null |
Het |
Potefam3e |
T |
C |
8: 19,799,499 (GRCm39) |
|
probably benign |
Het |
Prex1 |
A |
G |
2: 166,480,321 (GRCm39) |
Y140H |
probably damaging |
Het |
Ptpdc1 |
C |
T |
13: 48,740,534 (GRCm39) |
R238Q |
possibly damaging |
Het |
Rdx |
A |
G |
9: 51,997,646 (GRCm39) |
D540G |
probably damaging |
Het |
Slc30a5 |
A |
C |
13: 100,943,174 (GRCm39) |
D561E |
probably damaging |
Het |
Spag1 |
C |
T |
15: 36,195,562 (GRCm39) |
R252* |
probably null |
Het |
Spata31g1 |
A |
T |
4: 42,973,982 (GRCm39) |
H1105L |
probably benign |
Het |
Stox1 |
T |
C |
10: 62,503,692 (GRCm39) |
E121G |
probably damaging |
Het |
Synm |
T |
C |
7: 67,384,663 (GRCm39) |
M558V |
probably benign |
Het |
Tenm2 |
C |
T |
11: 36,097,726 (GRCm39) |
|
probably benign |
Het |
Vmn1r64 |
T |
C |
7: 5,886,827 (GRCm39) |
T239A |
probably damaging |
Het |
|
Other mutations in Rnase10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01534:Rnase10
|
APN |
14 |
51,245,436 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02082:Rnase10
|
APN |
14 |
51,246,856 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2011-07-12 |