Incidental Mutation 'R6742:Rnf146'
ID |
530494 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf146
|
Ensembl Gene |
ENSMUSG00000038876 |
Gene Name |
ring finger protein 146 |
Synonyms |
2610509H23Rik, Iduna |
MMRRC Submission |
044859-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.452)
|
Stock # |
R6742 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
29220172-29238438 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 29223528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 119
(D119E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149976
(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 benign
Transcript: ENSMUST00000037548
AA Change: D119E
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000037224 Gene: ENSMUSG00000038876 AA Change: D119E
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: ENSMUST00000160144
AA Change: D119E
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124288 Gene: ENSMUSG00000038876 AA Change: D119E
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: ENSMUST00000160372
AA Change: D119E
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124215 Gene: ENSMUSG00000038876 AA Change: D119E
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 |
probably damaging
Transcript: ENSMUST00000161508
AA Change: D119E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124814 Gene: ENSMUSG00000038876 AA Change: D119E
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 benign
Transcript: ENSMUST00000162335
AA Change: D119E
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124772 Gene: ENSMUSG00000038876 AA Change: D119E
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: ENSMUST00000214896
AA Change: D119E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215840
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178368
|
Meta Mutation Damage Score |
0.3865 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (46/46) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,654,995 (GRCm39) |
R1440G |
probably benign |
Het |
Abca13 |
T |
A |
11: 9,278,168 (GRCm39) |
L3116Q |
probably damaging |
Het |
Adgb |
G |
A |
10: 10,287,593 (GRCm39) |
H55Y |
probably damaging |
Het |
AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
Ank3 |
T |
C |
10: 69,827,412 (GRCm39) |
|
probably benign |
Het |
Ccdc127 |
G |
T |
13: 74,501,042 (GRCm39) |
G20W |
probably damaging |
Het |
Ccdc149 |
G |
A |
5: 52,562,475 (GRCm39) |
Q184* |
probably null |
Het |
Cntrob |
G |
A |
11: 69,213,749 (GRCm39) |
P14S |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,077,629 (GRCm39) |
E1288G |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,113,640 (GRCm39) |
D1350G |
possibly damaging |
Het |
Fasn |
T |
C |
11: 120,701,279 (GRCm39) |
T1990A |
probably damaging |
Het |
Itga2 |
T |
A |
13: 114,973,061 (GRCm39) |
N1166I |
possibly damaging |
Het |
Lmtk2 |
T |
A |
5: 144,085,175 (GRCm39) |
C216S |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,361,132 (GRCm39) |
D557G |
probably benign |
Het |
Lrrc32 |
T |
C |
7: 98,148,039 (GRCm39) |
V273A |
probably benign |
Het |
Nlrp4f |
C |
T |
13: 65,335,254 (GRCm39) |
|
probably null |
Het |
Ntng2 |
T |
G |
2: 29,090,940 (GRCm39) |
M360L |
probably benign |
Het |
Pik3c2b |
A |
G |
1: 133,003,559 (GRCm39) |
S504G |
probably benign |
Het |
Ppfia4 |
A |
C |
1: 134,256,909 (GRCm39) |
L104R |
probably damaging |
Het |
Raph1 |
A |
G |
1: 60,564,879 (GRCm39) |
S203P |
probably damaging |
Het |
Rbl1 |
G |
A |
2: 157,011,918 (GRCm39) |
T679I |
probably benign |
Het |
Rnase4 |
G |
T |
14: 51,342,486 (GRCm39) |
R70L |
probably benign |
Het |
Rrp1b |
A |
G |
17: 32,275,908 (GRCm39) |
H485R |
probably benign |
Het |
Rwdd4a |
T |
A |
8: 48,000,998 (GRCm39) |
|
probably null |
Het |
Scarf2 |
G |
A |
16: 17,624,351 (GRCm39) |
C552Y |
probably damaging |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Sox10 |
T |
C |
15: 79,040,676 (GRCm39) |
N127S |
probably damaging |
Het |
Speer4a1 |
A |
T |
5: 26,241,054 (GRCm39) |
|
probably null |
Het |
Tars1 |
A |
T |
15: 11,394,427 (GRCm39) |
I70N |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,408,815 (GRCm39) |
V736M |
probably damaging |
Het |
Timp3 |
G |
A |
10: 86,136,742 (GRCm39) |
V9M |
probably benign |
Het |
Tnfrsf1a |
A |
T |
6: 125,333,911 (GRCm39) |
N55Y |
probably damaging |
Het |
Trim43a |
G |
A |
9: 88,470,399 (GRCm39) |
V402I |
possibly damaging |
Het |
Tshz2 |
A |
G |
2: 169,725,677 (GRCm39) |
D91G |
probably damaging |
Het |
Ubac1 |
T |
C |
2: 25,895,418 (GRCm39) |
D345G |
possibly damaging |
Het |
Usp4 |
G |
A |
9: 108,251,438 (GRCm39) |
V538I |
possibly damaging |
Het |
Vmn2r19 |
A |
T |
6: 123,306,917 (GRCm39) |
Y475F |
possibly damaging |
Het |
Vmn2r87 |
A |
T |
10: 130,308,396 (GRCm39) |
V614E |
probably damaging |
Het |
Wfdc2 |
A |
T |
2: 164,404,706 (GRCm39) |
T21S |
probably benign |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zfp78 |
A |
G |
7: 6,381,277 (GRCm39) |
E109G |
probably damaging |
Het |
Zfp873 |
C |
A |
10: 81,894,256 (GRCm39) |
A19D |
probably damaging |
Het |
Zfp935 |
T |
A |
13: 62,602,293 (GRCm39) |
K302N |
probably damaging |
Het |
Zfpm2 |
G |
A |
15: 40,965,114 (GRCm39) |
S401N |
probably benign |
Het |
|
Other mutations in Rnf146 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01081:Rnf146
|
APN |
10 |
29,223,856 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCCTAAGTCCAGCTACTC -3'
(R):5'- CAGTCTGCCCTGTAAGCATG -3'
Sequencing Primer
(F):5'- AAGTCCAGCTACTCCCTTCTTTGG -3'
(R):5'- GCCCTGTAAGCATGTTTTCTG -3'
|
Posted On |
2018-08-01 |