Incidental Mutation 'IGL01651:Rnf121'
| ID |
102831 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf121
|
| Ensembl Gene |
ENSMUSG00000070426 |
| Gene Name |
ring finger protein 121 |
| Synonyms |
4930544L10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.615)
|
| Stock # |
IGL01651
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101668344-101714676 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101691862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089052]
[ENSMUST00000096639]
[ENSMUST00000106953]
[ENSMUST00000130074]
|
| AlphaFold |
Q8R1Z9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089052
AA Change: S2P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086453
Gene: ENSMUSG00000070426
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
56 |
73 |
N/A |
INTRINSIC |
|
transmembrane domain
|
78 |
97 |
N/A |
INTRINSIC |
|
transmembrane domain
|
117 |
139 |
N/A |
INTRINSIC |
|
transmembrane domain
|
152 |
169 |
N/A |
INTRINSIC |
|
RING
|
203 |
252 |
9.83e-4 |
SMART |
|
transmembrane domain
|
279 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096639
AA Change: S25P
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000094396
Gene: ENSMUSG00000070426
AA Change: S25P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
transmembrane domain
|
79 |
96 |
N/A |
INTRINSIC |
|
transmembrane domain
|
101 |
120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
140 |
162 |
N/A |
INTRINSIC |
|
transmembrane domain
|
175 |
192 |
N/A |
INTRINSIC |
|
RING
|
226 |
275 |
9.83e-4 |
SMART |
|
transmembrane domain
|
302 |
324 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106953
AA Change: S8P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102566
Gene: ENSMUSG00000070426
AA Change: S8P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
79 |
N/A |
INTRINSIC |
|
transmembrane domain
|
84 |
103 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
transmembrane domain
|
158 |
175 |
N/A |
INTRINSIC |
|
RING
|
209 |
258 |
9.83e-4 |
SMART |
|
transmembrane domain
|
285 |
307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130074
AA Change: S2P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120705
Gene: ENSMUSG00000070426
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131104
AA Change: S21P
|
| SMART Domains |
Protein: ENSMUSP00000123134
Gene: ENSMUSG00000070426
AA Change: S21P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
93 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156119
|
| Coding Region Coverage |
|
| 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, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Several alternatively spliced transcript variants have been noted for this gene, however, not all are likely to encode viable protein products. [provided by RefSeq, Sep 2008]
|
| Allele List at MGI |
All alleles(13) : Gene trapped(13) |
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
T |
C |
2: 181,136,531 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,633,458 (GRCm39) |
V2980E |
probably benign |
Het |
| Anxa7 |
A |
G |
14: 20,506,569 (GRCm39) |
L457P |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,784,856 (GRCm39) |
D310G |
probably damaging |
Het |
| Btbd9 |
T |
C |
17: 30,439,391 (GRCm39) |
S599G |
unknown |
Het |
| Col25a1 |
G |
A |
3: 130,360,134 (GRCm39) |
M487I |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,138,855 (GRCm39) |
F885I |
probably benign |
Het |
| Foxi3 |
T |
C |
6: 70,933,975 (GRCm39) |
V154A |
probably damaging |
Het |
| Golga3 |
A |
C |
5: 110,340,771 (GRCm39) |
|
probably null |
Het |
| Igdcc4 |
T |
C |
9: 65,031,394 (GRCm39) |
V491A |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,564,628 (GRCm39) |
D877V |
possibly damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,351,123 (GRCm39) |
D162G |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,608,727 (GRCm39) |
|
probably null |
Het |
| Ndufv2 |
T |
C |
17: 66,396,466 (GRCm39) |
N47S |
possibly damaging |
Het |
| Npepl1 |
T |
A |
2: 173,956,181 (GRCm39) |
|
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,907 (GRCm39) |
D199V |
probably damaging |
Het |
| Otud7b |
C |
T |
3: 96,060,807 (GRCm39) |
Q441* |
probably null |
Het |
| Pard3b |
A |
C |
1: 62,518,963 (GRCm39) |
|
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,494,495 (GRCm39) |
E143G |
probably damaging |
Het |
| Pphln1 |
C |
A |
15: 93,386,864 (GRCm39) |
Q321K |
probably damaging |
Het |
| Slc25a42 |
G |
A |
8: 70,639,250 (GRCm39) |
R276C |
possibly damaging |
Het |
| Smgc |
T |
C |
15: 91,743,986 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
C |
T |
1: 156,129,397 (GRCm39) |
M104I |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,027,632 (GRCm39) |
N457K |
probably benign |
Het |
| Zfp474 |
T |
C |
18: 52,771,655 (GRCm39) |
S103P |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,728,348 (GRCm39) |
N127S |
probably benign |
Het |
|
| Other mutations in Rnf121 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Rnf121
|
APN |
7 |
101,714,322 (GRCm39) |
unclassified |
probably benign |
|
|
3-1:Rnf121
|
UTSW |
7 |
101,688,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Rnf121
|
UTSW |
7 |
101,684,553 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0385:Rnf121
|
UTSW |
7 |
101,678,324 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1464:Rnf121
|
UTSW |
7 |
101,680,782 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1464:Rnf121
|
UTSW |
7 |
101,680,782 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3762:Rnf121
|
UTSW |
7 |
101,673,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:Rnf121
|
UTSW |
7 |
101,673,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4852:Rnf121
|
UTSW |
7 |
101,672,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Rnf121
|
UTSW |
7 |
101,672,555 (GRCm39) |
missense |
probably null |
0.99 |
|
R5784:Rnf121
|
UTSW |
7 |
101,684,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6767:Rnf121
|
UTSW |
7 |
101,672,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6975:Rnf121
|
UTSW |
7 |
101,673,218 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8263:Rnf121
|
UTSW |
7 |
101,684,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8747:Rnf121
|
UTSW |
7 |
101,678,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Rnf121
|
UTSW |
7 |
101,678,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation