Incidental Mutation 'R8520:Rnf148'
| ID |
658585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf148
|
| Ensembl Gene |
ENSMUSG00000078179 |
| Gene Name |
ring finger protein 148 |
| Synonyms |
4933432M07Rik, Greul3 |
| MMRRC Submission |
067947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R8520 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23653897-23655135 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23654169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 276
(Y276H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018122]
[ENSMUST00000063548]
[ENSMUST00000069074]
[ENSMUST00000104979]
[ENSMUST00000115354]
[ENSMUST00000115356]
[ENSMUST00000115358]
[ENSMUST00000115361]
[ENSMUST00000142913]
[ENSMUST00000163871]
[ENSMUST00000166458]
|
| AlphaFold |
G3X9R7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018122
|
| SMART Domains |
Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
DUF1041
|
801 |
902 |
1.14e-52 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063548
|
| SMART Domains |
Protein: ENSMUSP00000066906
Gene: ENSMUSG00000051956
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA
|
94 |
162 |
3.6e-11 |
PFAM |
|
RING
|
213 |
253 |
6.43e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069074
|
| SMART Domains |
Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
DUF1041
|
801 |
895 |
5.54e-51 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000104979
AA Change: Y276H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100592
Gene: ENSMUSG00000078179
AA Change: Y276H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
43 |
N/A |
INTRINSIC |
|
Pfam:PA
|
82 |
178 |
1e-13 |
PFAM |
|
RING
|
269 |
309 |
1.82e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115354
|
| SMART Domains |
Protein: ENSMUSP00000111011
Gene: ENSMUSG00000051956
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA
|
70 |
165 |
1.9e-13 |
PFAM |
|
RING
|
256 |
296 |
6.43e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115356
|
| SMART Domains |
Protein: ENSMUSP00000111013
Gene: ENSMUSG00000017978
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115358
|
| SMART Domains |
Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
DUF1041
|
801 |
902 |
1.14e-52 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115361
|
| SMART Domains |
Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
DUF1041
|
801 |
892 |
1.9e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142913
|
| SMART Domains |
Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
coiled coil region
|
236 |
256 |
N/A |
INTRINSIC |
|
C2
|
340 |
438 |
1.51e-1 |
SMART |
|
PH
|
463 |
567 |
2.94e-11 |
SMART |
|
DUF1041
|
772 |
873 |
1.14e-52 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163871
|
| SMART Domains |
Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
DUF1041
|
801 |
902 |
7.2e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166458
|
| SMART Domains |
Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
coiled coil region
|
236 |
256 |
N/A |
INTRINSIC |
|
C2
|
340 |
438 |
1.51e-1 |
SMART |
|
PH
|
463 |
567 |
2.94e-11 |
SMART |
|
DUF1041
|
772 |
873 |
1.05e-51 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
T |
13: 59,838,423 (GRCm39) |
F136L |
possibly damaging |
Het |
| A430033K04Rik |
T |
A |
5: 138,644,968 (GRCm39) |
N284K |
possibly damaging |
Het |
| Abcb1a |
T |
C |
5: 8,735,346 (GRCm39) |
I151T |
possibly damaging |
Het |
| Adam28 |
C |
T |
14: 68,879,532 (GRCm39) |
G172D |
probably damaging |
Het |
| Adcy6 |
A |
G |
15: 98,502,041 (GRCm39) |
V191A |
probably benign |
Het |
| Ankrd52 |
T |
C |
10: 128,225,359 (GRCm39) |
L911P |
probably damaging |
Het |
| C5ar1 |
A |
G |
7: 15,982,076 (GRCm39) |
S315P |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,313,331 (GRCm39) |
|
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,941,277 (GRCm39) |
S276P |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,481,203 (GRCm39) |
I1564N |
probably damaging |
Het |
| Dsg2 |
G |
A |
18: 20,712,508 (GRCm39) |
G171R |
probably damaging |
Het |
| Dusp13b |
C |
A |
14: 21,793,538 (GRCm39) |
G208* |
probably null |
Het |
| Ebf3 |
A |
C |
7: 136,802,853 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,171,270 (GRCm39) |
|
probably null |
Het |
| Fbxo27 |
A |
G |
7: 28,392,767 (GRCm39) |
D16G |
probably benign |
Het |
| G6pc3 |
A |
G |
11: 102,083,934 (GRCm39) |
S187G |
probably benign |
Het |
| Gucy2d |
G |
A |
7: 98,121,513 (GRCm39) |
V995I |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,244,726 (GRCm39) |
P728T |
probably damaging |
Het |
| Il1r2 |
T |
C |
1: 40,144,499 (GRCm39) |
L62P |
probably damaging |
Het |
| Ints7 |
T |
C |
1: 191,314,603 (GRCm39) |
S63P |
probably damaging |
Het |
| Lyset |
T |
A |
12: 102,710,431 (GRCm39) |
|
probably null |
Het |
| Mcf2l |
C |
A |
8: 12,930,089 (GRCm39) |
D36E |
probably benign |
Het |
| Mfsd13b |
T |
G |
7: 120,590,586 (GRCm39) |
I109S |
probably benign |
Het |
| Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
| Mydgf |
C |
A |
17: 56,490,734 (GRCm39) |
|
probably null |
Het |
| Nanog |
A |
T |
6: 122,690,475 (GRCm39) |
L268F |
possibly damaging |
Het |
| Or12j5 |
T |
A |
7: 140,084,315 (GRCm39) |
D19V |
probably benign |
Het |
| Or14a259 |
A |
T |
7: 86,013,471 (GRCm39) |
C25S |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,385,896 (GRCm39) |
N256K |
probably damaging |
Het |
| P2rx1 |
A |
T |
11: 72,899,779 (GRCm39) |
D128V |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,254,001 (GRCm39) |
V1552I |
probably benign |
Het |
| Pax8 |
A |
T |
2: 24,333,034 (GRCm39) |
F103I |
probably damaging |
Het |
| Ptk2b |
T |
A |
14: 66,412,204 (GRCm39) |
S396C |
probably damaging |
Het |
| Sec11c |
A |
T |
18: 65,947,911 (GRCm39) |
I93L |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,450,910 (GRCm39) |
N217K |
probably benign |
Het |
| Slc2a13 |
T |
A |
15: 91,457,105 (GRCm39) |
T66S |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,526,506 (GRCm39) |
M9T |
probably benign |
Het |
| Sord |
G |
A |
2: 122,087,423 (GRCm39) |
V176I |
possibly damaging |
Het |
| Thbs4 |
G |
A |
13: 92,890,792 (GRCm39) |
Q892* |
probably null |
Het |
| Thsd7b |
T |
A |
1: 129,849,157 (GRCm39) |
D956E |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,186,176 (GRCm39) |
|
probably null |
Het |
| Tst |
T |
C |
15: 78,289,453 (GRCm39) |
E194G |
probably damaging |
Het |
| Ttk |
T |
A |
9: 83,739,380 (GRCm39) |
S484T |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,384,607 (GRCm39) |
S26P |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,388,714 (GRCm39) |
A500T |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,545,930 (GRCm39) |
Y1669* |
probably null |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,615 (GRCm39) |
Q656L |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 64,120,231 (GRCm39) |
N1424S |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,603 (GRCm39) |
D373G |
probably benign |
Het |
| Zfp984 |
T |
A |
4: 147,840,668 (GRCm39) |
Y61F |
probably benign |
Het |
|
| Other mutations in Rnf148 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01727:Rnf148
|
APN |
6 |
23,655,001 (GRCm39) |
intron |
probably benign |
|
|
IGL02307:Rnf148
|
APN |
6 |
23,654,890 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02347:Rnf148
|
APN |
6 |
23,654,729 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02366:Rnf148
|
APN |
6 |
23,654,058 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02598:Rnf148
|
APN |
6 |
23,654,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Rnf148
|
UTSW |
6 |
23,654,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0458:Rnf148
|
UTSW |
6 |
23,654,256 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0465:Rnf148
|
UTSW |
6 |
23,654,684 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0514:Rnf148
|
UTSW |
6 |
23,654,792 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0538:Rnf148
|
UTSW |
6 |
23,654,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0658:Rnf148
|
UTSW |
6 |
23,654,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Rnf148
|
UTSW |
6 |
23,654,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2238:Rnf148
|
UTSW |
6 |
23,654,345 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3741:Rnf148
|
UTSW |
6 |
23,654,064 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4933:Rnf148
|
UTSW |
6 |
23,654,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5188:Rnf148
|
UTSW |
6 |
23,654,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6386:Rnf148
|
UTSW |
6 |
23,654,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Rnf148
|
UTSW |
6 |
23,654,890 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7526:Rnf148
|
UTSW |
6 |
23,654,283 (GRCm39) |
nonsense |
probably null |
|
|
R7613:Rnf148
|
UTSW |
6 |
23,654,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8025:Rnf148
|
UTSW |
6 |
23,654,196 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8463:Rnf148
|
UTSW |
6 |
23,654,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8545:Rnf148
|
UTSW |
6 |
23,654,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Rnf148
|
UTSW |
6 |
23,654,993 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R8825:Rnf148
|
UTSW |
6 |
23,654,378 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8826:Rnf148
|
UTSW |
6 |
23,654,378 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8868:Rnf148
|
UTSW |
6 |
23,654,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8931:Rnf148
|
UTSW |
6 |
23,654,704 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9710:Rnf148
|
UTSW |
6 |
23,654,802 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCACTGGCAGGATAGAGG -3'
(R):5'- TCCTATACTGTGCCTGGAGACC -3'
Sequencing Primer
(F):5'- CTTTGGATGTACAGCACAGTGAGC -3'
(R):5'- GAGACCCCGAGTGTCCAATTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation