Incidental Mutation 'R4306:Rnf144b'
ID |
324041 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf144b
|
Ensembl Gene |
ENSMUSG00000038068 |
Gene Name |
ring finger protein 144B |
Synonyms |
Ibrdc2, E130105P19Rik |
MMRRC Submission |
041092-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4306 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
47276196-47401470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47396418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 252
(N252D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068891]
[ENSMUST00000110111]
|
AlphaFold |
Q8BKD6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068891
AA Change: N252D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071017 Gene: ENSMUSG00000038068 AA Change: N252D
Domain | Start | End | E-Value | Type |
RING
|
30 |
78 |
2.24e0 |
SMART |
IBR
|
101 |
166 |
2.16e-16 |
SMART |
IBR
|
172 |
238 |
1.3e0 |
SMART |
RING
|
191 |
283 |
6.17e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110111
AA Change: N252D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105738 Gene: ENSMUSG00000038068 AA Change: N252D
Domain | Start | End | E-Value | Type |
RING
|
30 |
78 |
2.24e0 |
SMART |
IBR
|
101 |
166 |
2.16e-16 |
SMART |
IBR
|
172 |
238 |
1.3e0 |
SMART |
RING
|
191 |
283 |
6.17e-2 |
SMART |
|
Meta Mutation Damage Score |
0.2344 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
97% (33/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
Chrdl2 |
A |
G |
7: 99,671,229 (GRCm39) |
T116A |
probably damaging |
Het |
Chst12 |
T |
C |
5: 140,510,401 (GRCm39) |
F343L |
probably damaging |
Het |
Cpeb2 |
T |
A |
5: 43,392,578 (GRCm39) |
|
probably benign |
Het |
Cyp27b1 |
A |
G |
10: 126,886,957 (GRCm39) |
D391G |
probably benign |
Het |
Dll3 |
T |
C |
7: 28,001,082 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
A |
1: 46,260,932 (GRCm39) |
I2030N |
probably damaging |
Het |
Fap |
C |
T |
2: 62,361,051 (GRCm39) |
|
probably null |
Het |
Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
Fzd7 |
T |
C |
1: 59,523,566 (GRCm39) |
V483A |
probably damaging |
Het |
Gpm6a |
T |
C |
8: 55,500,428 (GRCm39) |
|
probably null |
Het |
Gprc6a |
T |
C |
10: 51,492,735 (GRCm39) |
H539R |
probably damaging |
Het |
Irs1 |
C |
T |
1: 82,265,685 (GRCm39) |
A844T |
probably benign |
Het |
Myo1a |
T |
G |
10: 127,549,950 (GRCm39) |
S477A |
probably benign |
Het |
Naga |
C |
T |
15: 82,221,095 (GRCm39) |
W67* |
probably null |
Het |
Or51ah3 |
G |
C |
7: 103,210,380 (GRCm39) |
R232T |
possibly damaging |
Het |
Or51ah3 |
A |
T |
7: 103,210,379 (GRCm39) |
R232* |
probably null |
Het |
Osbpl1a |
T |
C |
18: 12,952,652 (GRCm39) |
E87G |
probably benign |
Het |
Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
Rb1 |
G |
A |
14: 73,500,135 (GRCm39) |
T504I |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,460,125 (GRCm39) |
N1385K |
possibly damaging |
Het |
Spaca7b |
T |
A |
8: 11,728,590 (GRCm39) |
N27I |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,731,954 (GRCm39) |
I88V |
probably benign |
Het |
Trip11 |
A |
G |
12: 101,853,198 (GRCm39) |
F465L |
probably benign |
Het |
Usp31 |
G |
A |
7: 121,306,152 (GRCm39) |
P109S |
possibly damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
Vmn2r71 |
G |
T |
7: 85,273,360 (GRCm39) |
D725Y |
probably damaging |
Het |
Zfp459 |
T |
C |
13: 67,561,307 (GRCm39) |
K47R |
probably damaging |
Het |
|
Other mutations in Rnf144b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00814:Rnf144b
|
APN |
13 |
47,373,964 (GRCm39) |
splice site |
probably benign |
|
IGL00987:Rnf144b
|
APN |
13 |
47,360,969 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02712:Rnf144b
|
APN |
13 |
47,393,255 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03002:Rnf144b
|
APN |
13 |
47,396,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R0418:Rnf144b
|
UTSW |
13 |
47,397,966 (GRCm39) |
missense |
probably benign |
0.00 |
R0464:Rnf144b
|
UTSW |
13 |
47,396,363 (GRCm39) |
nonsense |
probably null |
|
R0652:Rnf144b
|
UTSW |
13 |
47,373,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R0932:Rnf144b
|
UTSW |
13 |
47,374,001 (GRCm39) |
missense |
probably null |
0.44 |
R1472:Rnf144b
|
UTSW |
13 |
47,396,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R2341:Rnf144b
|
UTSW |
13 |
47,373,976 (GRCm39) |
missense |
probably benign |
0.05 |
R4308:Rnf144b
|
UTSW |
13 |
47,396,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R4523:Rnf144b
|
UTSW |
13 |
47,361,013 (GRCm39) |
missense |
probably benign |
0.08 |
R5591:Rnf144b
|
UTSW |
13 |
47,396,430 (GRCm39) |
critical splice donor site |
probably null |
|
R7323:Rnf144b
|
UTSW |
13 |
47,393,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R7887:Rnf144b
|
UTSW |
13 |
47,393,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R8676:Rnf144b
|
UTSW |
13 |
47,382,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R9159:Rnf144b
|
UTSW |
13 |
47,396,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R9708:Rnf144b
|
UTSW |
13 |
47,397,912 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Rnf144b
|
UTSW |
13 |
47,390,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCCCCTGTCAGGATTCCTAG -3'
(R):5'- TGGTCACCCTAACGTTCTGC -3'
Sequencing Primer
(F):5'- TCCTAGAGGAAGTCACTGATAGCATC -3'
(R):5'- AACGTTCTGCTCTCTGGTG -3'
|
Posted On |
2015-06-24 |