Incidental Mutation 'R3762:Rnf121'
ID |
270558 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf121
|
Ensembl Gene |
ENSMUSG00000070426 |
Gene Name |
ring finger protein 121 |
Synonyms |
4930544L10Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.623)
|
Stock # |
R3762 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
101668344-101714676 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 101673244 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 223
(T223M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086453
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089052]
[ENSMUST00000096639]
[ENSMUST00000106953]
|
AlphaFold |
Q8R1Z9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089052
AA Change: T223M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000086453 Gene: ENSMUSG00000070426 AA Change: T223M
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 |
probably damaging
Transcript: ENSMUST00000096639
AA Change: T246M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000094396 Gene: ENSMUSG00000070426 AA Change: T246M
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: T229M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102566 Gene: ENSMUSG00000070426 AA Change: T229M
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 benign
Transcript: ENSMUST00000131104
|
SMART Domains |
Protein: ENSMUSP00000123134 Gene: ENSMUSG00000070426
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: ENSMUST00000149976
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap35 |
A |
T |
7: 16,299,000 (GRCm39) |
S22T |
probably damaging |
Het |
Atp2b1 |
T |
C |
10: 98,845,351 (GRCm39) |
I718T |
probably damaging |
Het |
Cad |
T |
A |
5: 31,232,890 (GRCm39) |
|
probably null |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Defa41 |
C |
T |
8: 21,691,753 (GRCm39) |
S45F |
probably damaging |
Het |
Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
Dnah17 |
T |
A |
11: 117,995,352 (GRCm39) |
M999L |
probably benign |
Het |
Dpysl4 |
A |
G |
7: 138,676,672 (GRCm39) |
E374G |
probably damaging |
Het |
Gatad2a |
T |
C |
8: 70,368,930 (GRCm39) |
|
probably null |
Het |
Gm826 |
C |
A |
2: 160,155,423 (GRCm39) |
|
probably benign |
Het |
H2-M10.1 |
T |
A |
17: 36,636,216 (GRCm39) |
H117L |
probably damaging |
Het |
Klhl9 |
A |
T |
4: 88,639,830 (GRCm39) |
V137D |
possibly damaging |
Het |
Limch1 |
A |
G |
5: 67,186,183 (GRCm39) |
Y828C |
probably damaging |
Het |
Med1 |
T |
C |
11: 98,046,341 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
A |
T |
7: 141,361,212 (GRCm39) |
T1507S |
possibly damaging |
Het |
Pak6 |
A |
T |
2: 118,526,958 (GRCm39) |
Q651L |
probably damaging |
Het |
Plscr2 |
T |
A |
9: 92,173,133 (GRCm39) |
V90D |
probably damaging |
Het |
Rbbp4 |
G |
A |
4: 129,228,344 (GRCm39) |
T2I |
probably damaging |
Het |
Rsph6a |
A |
G |
7: 18,789,256 (GRCm39) |
K196R |
probably damaging |
Het |
Tex47 |
A |
T |
5: 7,355,529 (GRCm39) |
I237L |
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vmn1r30 |
C |
A |
6: 58,412,278 (GRCm39) |
V185L |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,032,411 (GRCm39) |
E728D |
probably damaging |
Het |
Vmn2r14 |
A |
T |
5: 109,368,033 (GRCm39) |
Y320N |
probably benign |
Het |
Zc3h14 |
T |
A |
12: 98,724,902 (GRCm39) |
F188Y |
probably damaging |
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 |
|
IGL01651:Rnf121
|
APN |
7 |
101,691,862 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTTCTATGGCCTGGCAGTC -3'
(R):5'- GTATCTTCCTAGGGAGACAGATGCTC -3'
Sequencing Primer
(F):5'- TATGGCCTGGCAGTCCATAAC -3'
(R):5'- GAGACAGATGCTCACAGGTTTTC -3'
|
Posted On |
2015-03-18 |