Incidental Mutation 'IGL00814:Rnf144b'
| ID |
13836 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf144b
|
| Ensembl Gene |
ENSMUSG00000038068 |
| Gene Name |
ring finger protein 144B |
| Synonyms |
Ibrdc2, E130105P19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00814
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
47276196-47401470 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 47373964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068891]
[ENSMUST00000110111]
|
| AlphaFold |
Q8BKD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068891
|
| SMART Domains |
Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068
| 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 benign
Transcript: ENSMUST00000110111
|
| SMART Domains |
Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cops6 |
G |
T |
5: 138,161,640 (GRCm39) |
R58L |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,470,894 (GRCm39) |
M262K |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Gria4 |
A |
T |
9: 4,472,202 (GRCm39) |
M429K |
probably damaging |
Het |
| Hipk2 |
G |
A |
6: 38,795,484 (GRCm39) |
R262W |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,844,389 (GRCm39) |
I143K |
possibly damaging |
Het |
| Mbtd1 |
T |
A |
11: 93,834,666 (GRCm39) |
S615T |
possibly damaging |
Het |
| Nlrp9c |
C |
T |
7: 26,084,175 (GRCm39) |
S468N |
probably benign |
Het |
| Nt5c2 |
A |
T |
19: 46,886,087 (GRCm39) |
D212E |
probably benign |
Het |
| Or52e19 |
A |
T |
7: 102,959,014 (GRCm39) |
I29L |
probably benign |
Het |
| Pck2 |
T |
C |
14: 55,785,756 (GRCm39) |
|
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,516,721 (GRCm39) |
Q230R |
probably damaging |
Het |
| Pomk |
T |
C |
8: 26,473,624 (GRCm39) |
T110A |
probably benign |
Het |
| Psg23 |
C |
T |
7: 18,348,608 (GRCm39) |
W66* |
probably null |
Het |
| Sppl2c |
G |
A |
11: 104,077,805 (GRCm39) |
G202S |
possibly damaging |
Het |
| Thnsl2 |
A |
C |
6: 71,116,867 (GRCm39) |
L95R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,637,511 (GRCm39) |
V12248A |
probably benign |
Het |
|
| Other mutations in Rnf144b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4306:Rnf144b
|
UTSW |
13 |
47,396,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation