Incidental Mutation 'R4060:Rnf146'
| ID |
315823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf146
|
| Ensembl Gene |
ENSMUSG00000038876 |
| Gene Name |
ring finger protein 146 |
| Synonyms |
2610509H23Rik, Iduna |
| MMRRC Submission |
041618-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.427)
|
| Stock # |
R4060 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
29220172-29238438 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29223363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 174
(I174M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124814
(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: I174M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037224
Gene: ENSMUSG00000038876
AA Change: I174M
| 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: I174M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124288
Gene: ENSMUSG00000038876
AA Change: I174M
| 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: I174M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124215
Gene: ENSMUSG00000038876
AA Change: I174M
| 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: I174M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124814
Gene: ENSMUSG00000038876
AA Change: I174M
| 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: I174M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124772
Gene: ENSMUSG00000038876
AA Change: I174M
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215840
|
| Meta Mutation Damage Score |
0.3701 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
| Abca8b |
A |
T |
11: 109,848,027 (GRCm39) |
M756K |
probably benign |
Het |
| Cd44 |
T |
C |
2: 102,731,687 (GRCm39) |
D2G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,556,224 (GRCm39) |
I681V |
probably benign |
Het |
| Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,047,664 (GRCm39) |
I488M |
possibly damaging |
Het |
| Cntn2 |
T |
A |
1: 132,453,634 (GRCm39) |
L346F |
probably damaging |
Het |
| Creb3l2 |
T |
C |
6: 37,311,484 (GRCm39) |
H435R |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,675,932 (GRCm39) |
|
probably benign |
Het |
| Fam162a |
C |
T |
16: 35,864,451 (GRCm39) |
R38K |
probably benign |
Het |
| Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
| Foxo1 |
A |
G |
3: 52,252,583 (GRCm39) |
R249G |
probably damaging |
Het |
| Grm6 |
A |
G |
11: 50,744,051 (GRCm39) |
E174G |
probably damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
| Hypk |
A |
G |
2: 121,284,160 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
T |
C |
2: 62,429,143 (GRCm39) |
T932A |
possibly damaging |
Het |
| Igfbp1 |
C |
A |
11: 7,148,091 (GRCm39) |
P45T |
probably damaging |
Het |
| Ik |
A |
G |
18: 36,881,943 (GRCm39) |
K142E |
probably damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,792,348 (GRCm39) |
L27P |
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
| Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
| Or13a20 |
T |
C |
7: 140,232,033 (GRCm39) |
I47T |
probably damaging |
Het |
| Or1j14 |
A |
G |
2: 36,417,426 (GRCm39) |
M1V |
probably null |
Het |
| Or7g19 |
T |
C |
9: 18,856,346 (GRCm39) |
V134A |
probably benign |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,639,217 (GRCm39) |
E581G |
probably damaging |
Het |
| Serpinb9g |
G |
A |
13: 33,679,089 (GRCm39) |
V320I |
probably benign |
Het |
| Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
| Slc23a3 |
T |
G |
1: 75,109,964 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
T |
G |
2: 84,871,978 (GRCm39) |
Y401D |
probably damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,957,148 (GRCm39) |
W261R |
probably damaging |
Het |
| Tas2r144 |
T |
C |
6: 42,192,563 (GRCm39) |
V101A |
possibly damaging |
Het |
| Tead1 |
T |
A |
7: 112,475,269 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
A |
G |
17: 3,479,255 (GRCm39) |
S663G |
probably benign |
Het |
| Trbv20 |
T |
G |
6: 41,165,195 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
T |
C |
6: 128,011,135 (GRCm39) |
I19M |
probably benign |
Het |
| Ttbk2 |
T |
A |
2: 120,579,465 (GRCm39) |
E552D |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGAGTCTTCCAAAGAAATGCCTG -3'
(R):5'- TGGCAGTATGATGAGCGCAC -3'
Sequencing Primer
(F):5'- TACAGGGCTGGTTAACTGACC -3'
(R):5'- CAGTATGATGAGCGCACTAGTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation