Incidental Mutation 'R3897:Rnf144a'
| ID |
309021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf144a
|
| Ensembl Gene |
ENSMUSG00000020642 |
| Gene Name |
ring finger protein 144A |
| Synonyms |
UIP4, Rnf144 |
| MMRRC Submission |
040808-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
26356796-26465296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26360712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 275
(V275A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020971]
[ENSMUST00000062149]
|
| AlphaFold |
Q925F3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020971
AA Change: V275A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020971
Gene: ENSMUSG00000020642
AA Change: V275A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
20 |
68 |
2.17e-1 |
SMART |
|
IBR
|
91 |
156 |
6.4e-19 |
SMART |
|
IBR
|
168 |
232 |
9.16e-1 |
SMART |
|
RING
|
185 |
280 |
1.58e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062149
AA Change: V275A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056073
Gene: ENSMUSG00000020642
AA Change: V275A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
20 |
68 |
2.17e-1 |
SMART |
|
IBR
|
91 |
156 |
6.4e-19 |
SMART |
|
IBR
|
168 |
232 |
9.16e-1 |
SMART |
|
RING
|
185 |
280 |
1.58e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223137
|
| Meta Mutation Damage Score |
0.2247 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,254,245 (GRCm39) |
H184R |
probably benign |
Het |
| Ap1g1 |
A |
G |
8: 110,581,631 (GRCm39) |
D633G |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,093,084 (GRCm39) |
R999H |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,273,988 (GRCm39) |
S341P |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,233,189 (GRCm39) |
E633G |
possibly damaging |
Het |
| Colgalt1 |
G |
A |
8: 72,072,306 (GRCm39) |
M275I |
probably damaging |
Het |
| Commd7 |
T |
C |
2: 153,464,710 (GRCm39) |
T23A |
probably benign |
Het |
| Cts3 |
A |
G |
13: 61,712,800 (GRCm39) |
Y307H |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,587,989 (GRCm39) |
P89Q |
probably damaging |
Het |
| Ecm1 |
A |
G |
3: 95,643,298 (GRCm39) |
L334P |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,214,939 (GRCm39) |
V674I |
possibly damaging |
Het |
| Gosr2 |
A |
G |
11: 103,588,472 (GRCm39) |
Y5H |
possibly damaging |
Het |
| Gria4 |
T |
A |
9: 4,513,260 (GRCm39) |
D283V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Iqcm |
C |
T |
8: 76,480,028 (GRCm39) |
R329C |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,703,955 (GRCm39) |
C233R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,581,011 (GRCm39) |
C391R |
probably damaging |
Het |
| Man2b1 |
G |
T |
8: 85,823,577 (GRCm39) |
|
probably benign |
Het |
| Mgat4f |
A |
G |
1: 134,318,176 (GRCm39) |
D316G |
possibly damaging |
Het |
| Nisch |
A |
G |
14: 30,912,957 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
G |
19: 6,569,287 (GRCm39) |
D1394E |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,153 (GRCm39) |
E102G |
probably benign |
Het |
| Or4k77 |
T |
C |
2: 111,199,106 (GRCm39) |
L43P |
possibly damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,888,056 (GRCm39) |
D165G |
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,896,817 (GRCm39) |
|
probably null |
Het |
| Psd |
A |
C |
19: 46,313,024 (GRCm39) |
N115K |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,118,739 (GRCm39) |
F356L |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,087 (GRCm39) |
V364A |
probably benign |
Het |
| Tmem203 |
T |
C |
2: 25,145,935 (GRCm39) |
F85S |
probably benign |
Het |
| Tra2a |
T |
C |
6: 49,222,476 (GRCm39) |
|
probably benign |
Het |
| Ttc21b |
C |
T |
2: 66,065,413 (GRCm39) |
E454K |
probably benign |
Het |
|
| Other mutations in Rnf144a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Rnf144a
|
APN |
12 |
26,377,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02709:Rnf144a
|
APN |
12 |
26,371,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Rnf144a
|
UTSW |
12 |
26,389,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4087:Rnf144a
|
UTSW |
12 |
26,377,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4504:Rnf144a
|
UTSW |
12 |
26,377,302 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5985:Rnf144a
|
UTSW |
12 |
26,367,779 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6392:Rnf144a
|
UTSW |
12 |
26,360,779 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7827:Rnf144a
|
UTSW |
12 |
26,389,439 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
R8431:Rnf144a
|
UTSW |
12 |
26,377,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Rnf144a
|
UTSW |
12 |
26,370,972 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8832:Rnf144a
|
UTSW |
12 |
26,370,948 (GRCm39) |
unclassified |
probably benign |
|
|
R8861:Rnf144a
|
UTSW |
12 |
26,389,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Rnf144a
|
UTSW |
12 |
26,377,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9789:Rnf144a
|
UTSW |
12 |
26,377,574 (GRCm39) |
missense |
probably benign |
0.23 |
|
RF018:Rnf144a
|
UTSW |
12 |
26,364,013 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF036:Rnf144a
|
UTSW |
12 |
26,364,012 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF036:Rnf144a
|
UTSW |
12 |
26,364,007 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF043:Rnf144a
|
UTSW |
12 |
26,364,013 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF048:Rnf144a
|
UTSW |
12 |
26,364,010 (GRCm39) |
critical splice donor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAATCTCTGCAGCAAGC -3'
(R):5'- AAAGATGGGCCCATGGATGC -3'
Sequencing Primer
(F):5'- CCGGACACTGAAGCTCAATGG -3'
(R):5'- ATGGATGCATGCGTGACTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation