Incidental Mutation 'R3404:Rnf146'
| ID |
259287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf146
|
| Ensembl Gene |
ENSMUSG00000038876 |
| Gene Name |
ring finger protein 146 |
| Synonyms |
2610509H23Rik, Iduna |
| MMRRC Submission |
040622-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
R3404 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
29220172-29238438 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29223424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 154
(V154A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000037548
AA Change: V154A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037224
Gene: ENSMUSG00000038876
AA Change: V154A
| 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 |
possibly damaging
Transcript: ENSMUST00000160144
AA Change: V154A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124288
Gene: ENSMUSG00000038876
AA Change: V154A
| 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 |
possibly damaging
Transcript: ENSMUST00000160372
AA Change: V154A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124215
Gene: ENSMUSG00000038876
AA Change: V154A
| 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: V154A
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124814
Gene: ENSMUSG00000038876
AA Change: V154A
| 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 |
possibly damaging
Transcript: ENSMUST00000162335
AA Change: V154A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124772
Gene: ENSMUSG00000038876
AA Change: V154A
| 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 |
possibly damaging
Transcript: ENSMUST00000214896
AA Change: V154A
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215840
|
| Meta Mutation Damage Score |
0.1374 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.8%
|
| Validation Efficiency |
98% (41/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
C |
T |
15: 64,571,449 (GRCm39) |
V1065M |
probably damaging |
Het |
| Alg12 |
A |
T |
15: 88,698,782 (GRCm39) |
I181N |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,682,252 (GRCm39) |
K1220* |
probably null |
Het |
| Apc |
A |
G |
18: 34,446,655 (GRCm39) |
T1150A |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,963,774 (GRCm39) |
S770N |
probably benign |
Het |
| Bcorl1 |
T |
A |
X: 47,459,884 (GRCm39) |
M1139K |
probably benign |
Het |
| Bdkrb2 |
T |
C |
12: 105,558,755 (GRCm39) |
V332A |
possibly damaging |
Het |
| Bnc2 |
G |
T |
4: 84,464,478 (GRCm39) |
N20K |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 86,034,089 (GRCm39) |
N544I |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,151,771 (GRCm39) |
V162A |
probably benign |
Het |
| Dnai1 |
A |
T |
4: 41,603,246 (GRCm39) |
E176D |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,343,968 (GRCm39) |
Q1771* |
probably null |
Het |
| Fezf1 |
A |
T |
6: 23,247,283 (GRCm39) |
V264D |
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,563,964 (GRCm39) |
|
probably benign |
Het |
| Hemk1 |
G |
A |
9: 107,214,415 (GRCm39) |
Q6* |
probably null |
Het |
| Hspa13 |
C |
A |
16: 75,554,914 (GRCm39) |
E391* |
probably null |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,058 (GRCm39) |
T106S |
possibly damaging |
Het |
| Immp2l |
T |
A |
12: 41,160,846 (GRCm39) |
L48* |
probably null |
Het |
| Itgam |
A |
G |
7: 127,669,875 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,213,103 (GRCm39) |
V486D |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,309,204 (GRCm39) |
T416S |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,437,550 (GRCm39) |
C2104F |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,322,286 (GRCm39) |
D49G |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,695,687 (GRCm39) |
A24T |
unknown |
Het |
| Pzp |
G |
A |
6: 128,490,769 (GRCm39) |
T398M |
probably damaging |
Het |
| Rbfox3 |
T |
A |
11: 118,387,283 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Senp7 |
T |
A |
16: 56,008,640 (GRCm39) |
W1007R |
probably damaging |
Het |
| Snx31 |
C |
T |
15: 36,525,799 (GRCm39) |
C300Y |
probably benign |
Het |
| Ticrr |
G |
C |
7: 79,344,539 (GRCm39) |
S1468T |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,228,875 (GRCm39) |
E327G |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,946,157 (GRCm39) |
E149G |
probably damaging |
Het |
| Ube4a |
A |
G |
9: 44,840,985 (GRCm39) |
S979P |
probably damaging |
Het |
| Uvssa |
G |
T |
5: 33,547,162 (GRCm39) |
G243C |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,926,200 (GRCm39) |
S3834P |
probably damaging |
Het |
| Zfp609 |
A |
T |
9: 65,608,454 (GRCm39) |
M1142K |
possibly damaging |
Het |
| Zfp729b |
T |
G |
13: 67,739,283 (GRCm39) |
H994P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGGCACTGCAAGCTGAAC -3'
(R):5'- AGCCAACCTTGTTGTCACC -3'
Sequencing Primer
(F):5'- CTGAACAGAAGCTCCAGTCTGTG -3'
(R):5'- TTGTCACCAGAAGAACTTAAGGCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation