Incidental Mutation 'R4556:Rnf25'
| ID |
341854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf25
|
| Ensembl Gene |
ENSMUSG00000026171 |
| Gene Name |
ring finger protein 25 |
| Synonyms |
AO7, 0610009H16Rik |
| MMRRC Submission |
041597-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4556 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74632907-74640556 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74638264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 26
(I26N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027357]
[ENSMUST00000087183]
[ENSMUST00000087186]
[ENSMUST00000113694]
[ENSMUST00000113721]
[ENSMUST00000127938]
[ENSMUST00000135140]
[ENSMUST00000148456]
[ENSMUST00000132081]
[ENSMUST00000154874]
[ENSMUST00000189830]
|
| AlphaFold |
Q9QZR0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027357
AA Change: I26N
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027357
Gene: ENSMUSG00000026171
AA Change: I26N
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
18 |
127 |
4.66e-31 |
SMART |
|
RING
|
134 |
198 |
2.87e-5 |
SMART |
|
low complexity region
|
368 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087183
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
254 |
5.24e-100 |
SMART |
|
low complexity region
|
405 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
705 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
836 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
900 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
956 |
969 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1009 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1030 |
N/A |
INTRINSIC |
|
Pfam:HEAT_2
|
1112 |
1218 |
7.8e-11 |
PFAM |
|
Pfam:HEAT_2
|
1158 |
1259 |
3e-11 |
PFAM |
|
Pfam:HEAT_EZ
|
1207 |
1261 |
4.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087186
|
| SMART Domains |
Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
254 |
5.24e-100 |
SMART |
|
low complexity region
|
405 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
841 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
881 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
902 |
N/A |
INTRINSIC |
|
Pfam:HEAT_2
|
984 |
1090 |
2.9e-10 |
PFAM |
|
Pfam:HEAT_2
|
1026 |
1131 |
9.6e-11 |
PFAM |
|
Pfam:HEAT_EZ
|
1039 |
1092 |
2.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113694
|
| SMART Domains |
Protein: ENSMUSP00000109324
Gene: ENSMUSG00000033276
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
4 |
145 |
1.6e-46 |
PFAM |
|
Pfam:Pkinase_Tyr
|
4 |
145 |
3.3e-29 |
PFAM |
|
Pfam:YrbL-PhoP_reg
|
17 |
143 |
7.1e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113721
AA Change: I26N
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109350
Gene: ENSMUSG00000026171
AA Change: I26N
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
18 |
127 |
4.66e-31 |
SMART |
|
RING
|
134 |
197 |
3.53e-5 |
SMART |
|
low complexity region
|
367 |
377 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127938
|
| SMART Domains |
Protein: ENSMUSP00000116973
Gene: ENSMUSG00000026171
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
87 |
2.87e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128491
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135140
AA Change: I26N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000136078
AA Change: I31N
|
| SMART Domains |
Protein: ENSMUSP00000117692
Gene: ENSMUSG00000026171
AA Change: I31N
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
24 |
123 |
1.97e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148456
|
| SMART Domains |
Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
254 |
5.24e-100 |
SMART |
|
low complexity region
|
405 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
705 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
836 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
912 |
N/A |
INTRINSIC |
|
low complexity region
|
954 |
967 |
N/A |
INTRINSIC |
|
low complexity region
|
992 |
1007 |
N/A |
INTRINSIC |
|
low complexity region
|
1012 |
1028 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132081
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154874
|
| SMART Domains |
Protein: ENSMUSP00000120646
Gene: ENSMUSG00000026171
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
1 |
94 |
6.36e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189830
|
| SMART Domains |
Protein: ENSMUSP00000140912
Gene: ENSMUSG00000033276
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
56 |
8.1e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,157,549 (GRCm39) |
S1601P |
probably damaging |
Het |
| Erc2 |
A |
C |
14: 28,024,861 (GRCm39) |
D580A |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Fbxo42 |
T |
A |
4: 140,926,321 (GRCm39) |
H334Q |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,782 (GRCm39) |
R24G |
probably benign |
Het |
| Lama3 |
G |
T |
18: 12,612,816 (GRCm39) |
R1200L |
possibly damaging |
Het |
| Lxn |
T |
A |
3: 67,365,953 (GRCm39) |
I182F |
possibly damaging |
Het |
| Mbd5 |
G |
A |
2: 49,169,406 (GRCm39) |
G1526R |
probably damaging |
Het |
| Mcub |
G |
A |
3: 129,709,384 (GRCm39) |
Q310* |
probably null |
Het |
| Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
| Nktr |
A |
G |
9: 121,570,189 (GRCm39) |
T90A |
probably damaging |
Het |
| Nr1h5 |
G |
A |
3: 102,853,457 (GRCm39) |
A350V |
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or7e174 |
T |
C |
9: 20,012,619 (GRCm39) |
L188P |
possibly damaging |
Het |
| Pros1 |
A |
G |
16: 62,721,036 (GRCm39) |
K197R |
possibly damaging |
Het |
| Rmnd5b |
G |
T |
11: 51,517,732 (GRCm39) |
|
probably null |
Het |
| Scn4a |
T |
C |
11: 106,211,272 (GRCm39) |
I1582V |
probably benign |
Het |
| Sh2d3c |
A |
G |
2: 32,643,021 (GRCm39) |
T583A |
possibly damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,426 (GRCm39) |
Y587C |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,221,773 (GRCm39) |
S488G |
probably benign |
Het |
| Smim22 |
T |
A |
16: 4,825,730 (GRCm39) |
F38L |
possibly damaging |
Het |
| Stab2 |
T |
G |
10: 86,803,543 (GRCm39) |
E335D |
possibly damaging |
Het |
| Tas2r102 |
T |
C |
6: 132,739,878 (GRCm39) |
F262S |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,060,762 (GRCm39) |
F107S |
probably damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,034,953 (GRCm39) |
V66E |
possibly damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,804 (GRCm39) |
S67P |
possibly damaging |
Het |
| Xrcc4 |
A |
T |
13: 90,140,623 (GRCm39) |
H195Q |
probably benign |
Het |
|
| Other mutations in Rnf25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02542:Rnf25
|
APN |
1 |
74,633,260 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03268:Rnf25
|
APN |
1 |
74,638,217 (GRCm39) |
unclassified |
probably benign |
|
|
R1570:Rnf25
|
UTSW |
1 |
74,634,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Rnf25
|
UTSW |
1 |
74,637,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Rnf25
|
UTSW |
1 |
74,633,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2939:Rnf25
|
UTSW |
1 |
74,635,047 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2940:Rnf25
|
UTSW |
1 |
74,635,047 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4770:Rnf25
|
UTSW |
1 |
74,633,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Rnf25
|
UTSW |
1 |
74,634,803 (GRCm39) |
missense |
probably benign |
|
|
R5394:Rnf25
|
UTSW |
1 |
74,634,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6319:Rnf25
|
UTSW |
1 |
74,634,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Rnf25
|
UTSW |
1 |
74,634,403 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8039:Rnf25
|
UTSW |
1 |
74,633,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACGCTGGACTTGTTTC -3'
(R):5'- TGGCCAGTCAACTACTTGAAG -3'
Sequencing Primer
(F):5'- CACGCTGGACTTGTTTCTCTGTG -3'
(R):5'- GCAATGGTGACTCAGTCT -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation