Incidental Mutation 'IGL02307:Rnf148'
ID |
287642 |
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 # |
IGL02307
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
23653897-23655135 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 23654890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 35
(S35R)
|
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 benign
Transcript: ENSMUST00000104979
AA Change: S35R
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000100592 Gene: ENSMUSG00000078179 AA Change: S35R
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 |
noncoding transcript
Transcript: ENSMUST00000136279
|
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,935,395 (GRCm39) |
D323G |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,455,665 (GRCm39) |
C417R |
probably damaging |
Het |
Astn1 |
C |
T |
1: 158,502,184 (GRCm39) |
R1133C |
probably damaging |
Het |
Bdp1 |
C |
A |
13: 100,229,946 (GRCm39) |
G256V |
probably damaging |
Het |
Cald1 |
A |
G |
6: 34,730,390 (GRCm39) |
K252E |
probably damaging |
Het |
Ccdc141 |
T |
C |
2: 76,859,686 (GRCm39) |
E985G |
probably damaging |
Het |
Cdc23 |
A |
G |
18: 34,774,442 (GRCm39) |
I279T |
possibly damaging |
Het |
Col16a1 |
C |
T |
4: 129,952,802 (GRCm39) |
P416L |
probably damaging |
Het |
Coro1a |
T |
C |
7: 126,300,736 (GRCm39) |
D197G |
probably damaging |
Het |
Ctnnd2 |
C |
T |
15: 30,647,357 (GRCm39) |
T351I |
possibly damaging |
Het |
Fam76b |
A |
G |
9: 13,755,332 (GRCm39) |
N313S |
probably damaging |
Het |
Fbxw20 |
C |
A |
9: 109,062,601 (GRCm39) |
W75L |
possibly damaging |
Het |
Gjd2 |
T |
C |
2: 113,842,394 (GRCm39) |
T28A |
possibly damaging |
Het |
Glyctk |
A |
C |
9: 106,032,963 (GRCm39) |
L350R |
possibly damaging |
Het |
Gm20726 |
A |
T |
14: 54,870,060 (GRCm39) |
V237D |
probably damaging |
Het |
Gm57858 |
T |
C |
3: 36,073,016 (GRCm39) |
K422R |
possibly damaging |
Het |
Gpr22 |
C |
A |
12: 31,758,739 (GRCm39) |
C461F |
possibly damaging |
Het |
Grhl2 |
A |
G |
15: 37,288,532 (GRCm39) |
T279A |
probably damaging |
Het |
Gstm3 |
G |
A |
3: 107,874,929 (GRCm39) |
R108C |
probably damaging |
Het |
Haus6 |
T |
C |
4: 86,502,072 (GRCm39) |
T600A |
possibly damaging |
Het |
Htra4 |
G |
A |
8: 25,523,710 (GRCm39) |
A285V |
probably damaging |
Het |
Igkv14-100 |
C |
T |
6: 68,496,349 (GRCm39) |
P81S |
probably damaging |
Het |
Kif24 |
T |
G |
4: 41,395,274 (GRCm39) |
Q533P |
probably benign |
Het |
Klhl1 |
A |
T |
14: 96,438,809 (GRCm39) |
N496K |
possibly damaging |
Het |
Lama3 |
G |
T |
18: 12,714,840 (GRCm39) |
R1667L |
probably benign |
Het |
Lct |
T |
A |
1: 128,214,327 (GRCm39) |
H1815L |
possibly damaging |
Het |
Mrgprb2 |
T |
A |
7: 48,202,644 (GRCm39) |
Y27F |
probably benign |
Het |
Mrpl15 |
A |
T |
1: 4,854,176 (GRCm39) |
H86Q |
possibly damaging |
Het |
Myo10 |
C |
T |
15: 25,776,401 (GRCm39) |
|
probably benign |
Het |
Nrp1 |
T |
C |
8: 129,229,201 (GRCm39) |
L893P |
probably damaging |
Het |
Or4n4b |
A |
C |
14: 50,536,295 (GRCm39) |
I157S |
probably damaging |
Het |
Or51a8 |
A |
T |
7: 102,550,086 (GRCm39) |
N171Y |
probably benign |
Het |
Ovol1 |
T |
A |
19: 5,603,643 (GRCm39) |
D86V |
possibly damaging |
Het |
Pacs2 |
T |
A |
12: 113,034,393 (GRCm39) |
M851K |
probably damaging |
Het |
Pde1a |
A |
T |
2: 79,736,412 (GRCm39) |
M39K |
possibly damaging |
Het |
Pdpn |
T |
C |
4: 143,000,550 (GRCm39) |
H94R |
possibly damaging |
Het |
Plcg2 |
T |
A |
8: 118,306,635 (GRCm39) |
|
probably null |
Het |
Pzp |
A |
T |
6: 128,466,049 (GRCm39) |
Y1210* |
probably null |
Het |
Ros1 |
A |
T |
10: 52,004,534 (GRCm39) |
S1008T |
possibly damaging |
Het |
Rps18-ps6 |
G |
T |
13: 97,896,871 (GRCm39) |
Q76K |
probably benign |
Het |
Sis |
A |
T |
3: 72,819,167 (GRCm39) |
|
probably benign |
Het |
Spag9 |
T |
A |
11: 93,992,986 (GRCm39) |
|
probably null |
Het |
Srbd1 |
A |
G |
17: 86,433,616 (GRCm39) |
L327P |
probably damaging |
Het |
Steap3 |
A |
T |
1: 120,169,390 (GRCm39) |
Y264* |
probably null |
Het |
Swap70 |
A |
G |
7: 109,880,501 (GRCm39) |
E572G |
probably benign |
Het |
Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
Trmt11 |
T |
C |
10: 30,470,150 (GRCm39) |
D58G |
possibly damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,653,901 (GRCm39) |
S127P |
probably damaging |
Het |
Usf1 |
T |
A |
1: 171,243,314 (GRCm39) |
S30R |
probably damaging |
Het |
Ush1c |
A |
G |
7: 45,846,612 (GRCm39) |
|
probably benign |
Het |
Utrn |
A |
T |
10: 12,625,809 (GRCm39) |
L124* |
probably null |
Het |
Vmn2r75 |
T |
C |
7: 85,814,974 (GRCm39) |
N173S |
probably benign |
Het |
Zic2 |
T |
C |
14: 122,714,046 (GRCm39) |
V320A |
possibly damaging |
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 |
|
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 |
2015-04-16 |