Incidental Mutation 'IGL01727:Rnf148'
ID |
105346 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rnf148
|
Ensembl Gene |
ENSMUSG00000078179 |
Gene Name |
ring finger protein 148 |
Synonyms |
4933432M07Rik, Greul3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL01727
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
23653897-23655135 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 23655001 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018122]
[ENSMUST00000063548]
[ENSMUST00000069074]
[ENSMUST00000104979]
[ENSMUST00000115354]
[ENSMUST00000115356]
[ENSMUST00000115358]
[ENSMUST00000115361]
[ENSMUST00000163871]
[ENSMUST00000166458]
[ENSMUST00000142913]
|
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 benign
Transcript: ENSMUST00000104979
|
SMART Domains |
Protein: ENSMUSP00000100592 Gene: ENSMUSG00000078179
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 |
noncoding transcript
Transcript: ENSMUST00000136279
|
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: 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 |
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
C |
T |
11: 46,012,380 (GRCm39) |
A292V |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,488,597 (GRCm39) |
L1354P |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,112,387 (GRCm39) |
C720* |
probably null |
Het |
Aqp5 |
T |
C |
15: 99,489,502 (GRCm39) |
L117P |
probably damaging |
Het |
Ccn3 |
G |
A |
15: 54,609,634 (GRCm39) |
A45T |
probably benign |
Het |
Col9a3 |
T |
C |
2: 180,258,358 (GRCm39) |
|
probably null |
Het |
Ctrc |
T |
C |
4: 141,571,072 (GRCm39) |
Y56C |
probably damaging |
Het |
Dsc2 |
T |
A |
18: 20,171,257 (GRCm39) |
T581S |
probably benign |
Het |
Grap2 |
T |
C |
15: 80,518,610 (GRCm39) |
I51T |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,787,554 (GRCm39) |
Y1737C |
probably damaging |
Het |
Hook3 |
A |
G |
8: 26,560,187 (GRCm39) |
M346T |
probably benign |
Het |
Lancl1 |
C |
T |
1: 67,060,101 (GRCm39) |
C108Y |
probably damaging |
Het |
Lpin2 |
T |
C |
17: 71,553,447 (GRCm39) |
C824R |
probably damaging |
Het |
Mlip |
T |
C |
9: 77,147,030 (GRCm39) |
S88G |
probably damaging |
Het |
Mtdh |
T |
G |
15: 34,083,255 (GRCm39) |
L25R |
probably damaging |
Het |
Musk |
A |
G |
4: 58,303,887 (GRCm39) |
I177V |
probably benign |
Het |
Obi1 |
G |
A |
14: 104,716,823 (GRCm39) |
R517* |
probably null |
Het |
Or12e13 |
T |
C |
2: 87,663,844 (GRCm39) |
S154P |
probably damaging |
Het |
Or4c100 |
A |
G |
2: 88,356,271 (GRCm39) |
M115V |
probably benign |
Het |
Or9i16 |
A |
G |
19: 13,865,242 (GRCm39) |
C111R |
probably damaging |
Het |
Pabpc4l |
C |
A |
3: 46,401,100 (GRCm39) |
E181D |
probably damaging |
Het |
Pcdh18 |
A |
G |
3: 49,710,149 (GRCm39) |
S389P |
probably damaging |
Het |
Ptk7 |
A |
G |
17: 46,883,474 (GRCm39) |
Y864H |
probably damaging |
Het |
Rbp4 |
A |
G |
19: 38,112,500 (GRCm39) |
V155A |
probably benign |
Het |
Rilpl1 |
C |
T |
5: 124,669,007 (GRCm39) |
A14T |
possibly damaging |
Het |
Ska2 |
T |
A |
11: 87,006,973 (GRCm39) |
L26Q |
probably damaging |
Het |
Slc29a2 |
T |
A |
19: 5,076,486 (GRCm39) |
F125I |
probably damaging |
Het |
Smap2 |
A |
G |
4: 120,839,405 (GRCm39) |
|
probably benign |
Het |
St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
Supt7l |
A |
G |
5: 31,677,686 (GRCm39) |
V160A |
possibly damaging |
Het |
Susd1 |
A |
G |
4: 59,412,329 (GRCm39) |
|
probably benign |
Het |
Syne1 |
T |
C |
10: 4,997,842 (GRCm39) |
D375G |
probably damaging |
Het |
Thoc2l |
A |
G |
5: 104,667,379 (GRCm39) |
T634A |
probably benign |
Het |
Tpst2 |
G |
A |
5: 112,457,724 (GRCm39) |
D351N |
probably damaging |
Het |
Trcg1 |
T |
C |
9: 57,149,556 (GRCm39) |
I376T |
probably benign |
Het |
Trcg1 |
T |
A |
9: 57,149,877 (GRCm39) |
I483N |
probably damaging |
Het |
Tsga10 |
T |
C |
1: 37,874,355 (GRCm39) |
E148G |
probably damaging |
Het |
Zranb1 |
G |
T |
7: 132,568,349 (GRCm39) |
D336Y |
probably damaging |
Het |
|
Other mutations in Rnf148 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R8520:Rnf148
|
UTSW |
6 |
23,654,169 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2014-01-21 |