Incidental Mutation 'IGL01081:Rnf146'
| ID |
52069 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf146
|
| Ensembl Gene |
ENSMUSG00000038876 |
| Gene Name |
ring finger protein 146 |
| Synonyms |
2610509H23Rik, Iduna |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.427)
|
| Stock # |
IGL01081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
29220172-29238438 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29223856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 10
(D10G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020034]
[ENSMUST00000037548]
[ENSMUST00000160144]
[ENSMUST00000160372]
[ENSMUST00000160399]
[ENSMUST00000161508]
[ENSMUST00000161605]
[ENSMUST00000162335]
[ENSMUST00000214896]
|
| AlphaFold |
Q9CZW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020034
|
| SMART Domains |
Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
74 |
307 |
4.8e-39 |
PFAM |
|
Pfam:ECH_2
|
79 |
321 |
4.5e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037548
AA Change: D10G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037224
Gene: ENSMUSG00000038876
AA Change: D10G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
38 |
75 |
1.79e-6 |
SMART |
|
WWE
|
102 |
177 |
4.93e-35 |
SMART |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160144
AA Change: D10G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124288
Gene: ENSMUSG00000038876
AA Change: D10G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
38 |
75 |
1.79e-6 |
SMART |
|
WWE
|
102 |
177 |
4.93e-35 |
SMART |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160372
AA Change: D10G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124215
Gene: ENSMUSG00000038876
AA Change: D10G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
38 |
75 |
1.79e-6 |
SMART |
|
WWE
|
102 |
177 |
4.93e-35 |
SMART |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160399
|
| SMART Domains |
Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
49 |
293 |
1.6e-42 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161508
AA Change: D10G
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124814
Gene: ENSMUSG00000038876
AA Change: D10G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
38 |
75 |
1.79e-6 |
SMART |
|
WWE
|
102 |
177 |
4.93e-35 |
SMART |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161605
|
| SMART Domains |
Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
49 |
165 |
4.4e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162335
AA Change: D10G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124772
Gene: ENSMUSG00000038876
AA Change: D10G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
38 |
75 |
1.79e-6 |
SMART |
|
WWE
|
102 |
177 |
4.93e-35 |
SMART |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178368
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214896
AA Change: D10G
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215840
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a conditional allele activated in immune cells exhibit osteopenia with enhanced osteoclastogenesis. Mice homozygous for a conditional allele activated in osteoblast exhibit ostepenia with impaired osteoblast numbers, increased adipogenesis and impaired glucose tolerance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad8 |
A |
G |
9: 26,901,890 (GRCm39) |
L158P |
probably damaging |
Het |
| Aco1 |
A |
G |
4: 40,197,576 (GRCm39) |
Q860R |
probably benign |
Het |
| Actl11 |
A |
T |
9: 107,806,181 (GRCm39) |
Q168L |
possibly damaging |
Het |
| Adam26b |
T |
C |
8: 43,972,975 (GRCm39) |
I676V |
probably benign |
Het |
| Aldoart2 |
A |
C |
12: 55,612,920 (GRCm39) |
I282L |
probably benign |
Het |
| Capns1 |
G |
T |
7: 29,889,565 (GRCm39) |
S211R |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,245,983 (GRCm39) |
V1158A |
probably damaging |
Het |
| Cryl1 |
C |
T |
14: 57,523,821 (GRCm39) |
|
probably null |
Het |
| Cxcr5 |
A |
G |
9: 44,425,607 (GRCm39) |
|
probably benign |
Het |
| Dcaf13 |
A |
G |
15: 38,982,201 (GRCm39) |
K56E |
probably damaging |
Het |
| Dlx6 |
T |
G |
6: 6,867,068 (GRCm39) |
S85A |
probably damaging |
Het |
| Dsg2 |
C |
T |
18: 20,722,999 (GRCm39) |
|
probably benign |
Het |
| Dync1li1 |
T |
A |
9: 114,549,665 (GRCm39) |
S412T |
possibly damaging |
Het |
| Ebf3 |
C |
A |
7: 136,827,625 (GRCm39) |
|
probably benign |
Het |
| Fads3 |
T |
C |
19: 10,030,366 (GRCm39) |
I168T |
probably benign |
Het |
| Gm10295 |
G |
A |
7: 71,000,296 (GRCm39) |
P95S |
unknown |
Het |
| Gm43638 |
T |
C |
5: 87,634,455 (GRCm39) |
T51A |
probably damaging |
Het |
| Gm5114 |
G |
A |
7: 39,060,071 (GRCm39) |
|
probably benign |
Het |
| Gucy2c |
G |
A |
6: 136,679,737 (GRCm39) |
T974M |
probably damaging |
Het |
| Ighv1-19-1 |
T |
C |
12: 114,672,258 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
A |
T |
9: 21,191,723 (GRCm39) |
L173Q |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,531,338 (GRCm39) |
D210G |
probably benign |
Het |
| Morc2a |
T |
A |
11: 3,638,149 (GRCm39) |
N958K |
probably damaging |
Het |
| Msl3l2 |
G |
A |
10: 55,992,021 (GRCm39) |
A249T |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,254 (GRCm39) |
E287G |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,257,519 (GRCm39) |
N290I |
possibly damaging |
Het |
| Or2b28 |
T |
G |
13: 21,531,185 (GRCm39) |
L29R |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,688,484 (GRCm39) |
T205A |
probably benign |
Het |
| Or5al6 |
C |
T |
2: 85,976,955 (GRCm39) |
G41D |
probably benign |
Het |
| Pcsk7 |
A |
G |
9: 45,840,005 (GRCm39) |
D731G |
probably benign |
Het |
| Plppr5 |
T |
A |
3: 117,480,298 (GRCm39) |
|
probably benign |
Het |
| Podxl |
T |
C |
6: 31,505,639 (GRCm39) |
T135A |
possibly damaging |
Het |
| Pole |
T |
G |
5: 110,485,106 (GRCm39) |
C407G |
possibly damaging |
Het |
| Prl |
C |
A |
13: 27,249,024 (GRCm39) |
N224K |
possibly damaging |
Het |
| Prnp |
A |
T |
2: 131,778,340 (GRCm39) |
|
probably benign |
Het |
| Proser2 |
A |
G |
2: 6,105,149 (GRCm39) |
*472R |
probably null |
Het |
| Rhag |
T |
C |
17: 41,122,178 (GRCm39) |
S38P |
possibly damaging |
Het |
| Rps3a1 |
T |
C |
3: 86,049,085 (GRCm39) |
D29G |
probably benign |
Het |
| Sv2a |
A |
T |
3: 96,097,012 (GRCm39) |
I446F |
probably benign |
Het |
| Tbc1d30 |
C |
A |
10: 121,103,319 (GRCm39) |
R571L |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,443,646 (GRCm39) |
|
probably null |
Het |
| Tnfaip1 |
G |
A |
11: 78,419,129 (GRCm39) |
P156S |
probably damaging |
Het |
| Vmn1r226 |
T |
C |
17: 20,908,166 (GRCm39) |
S133P |
probably damaging |
Het |
| Wnt9b |
C |
T |
11: 103,622,836 (GRCm39) |
R189K |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,983,726 (GRCm39) |
H564R |
probably benign |
Het |
| Zfp442 |
C |
A |
2: 150,251,267 (GRCm39) |
E211* |
probably null |
Het |
|
| Other mutations in Rnf146 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02151:Rnf146
|
APN |
10 |
29,223,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Rnf146
|
UTSW |
10 |
29,223,092 (GRCm39) |
nonsense |
probably null |
|
|
R1757:Rnf146
|
UTSW |
10 |
29,223,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1844:Rnf146
|
UTSW |
10 |
29,223,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1923:Rnf146
|
UTSW |
10 |
29,223,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Rnf146
|
UTSW |
10 |
29,223,424 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4060:Rnf146
|
UTSW |
10 |
29,223,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Rnf146
|
UTSW |
10 |
29,223,800 (GRCm39) |
missense |
probably benign |
|
|
R6742:Rnf146
|
UTSW |
10 |
29,223,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Rnf146
|
UTSW |
10 |
29,223,640 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8126:Rnf146
|
UTSW |
10 |
29,223,372 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8899:Rnf146
|
UTSW |
10 |
29,223,754 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9037:Rnf146
|
UTSW |
10 |
29,223,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9128:Rnf146
|
UTSW |
10 |
29,223,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Rnf146
|
UTSW |
10 |
29,223,784 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1088:Rnf146
|
UTSW |
10 |
29,223,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation