Incidental Mutation 'R0658:Rnf148'
ID |
62610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf148
|
Ensembl Gene |
ENSMUSG00000078179 |
Gene Name |
ring finger protein 148 |
Synonyms |
4933432M07Rik, Greul3 |
MMRRC Submission |
038843-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R0658 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
23653897-23655135 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 23654456 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 180
(I180N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018122]
[ENSMUST00000063548]
[ENSMUST00000069074]
[ENSMUST00000104979]
[ENSMUST00000115354]
[ENSMUST00000115356]
[ENSMUST00000115358]
[ENSMUST00000166458]
[ENSMUST00000163871]
[ENSMUST00000115361]
[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 damaging
Transcript: ENSMUST00000104979
AA Change: I180N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100592 Gene: ENSMUSG00000078179 AA Change: I180N
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: 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: 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: 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 |
|
Meta Mutation Damage Score |
0.3249 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
99% (78/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas1 |
C |
T |
5: 100,965,827 (GRCm39) |
|
probably null |
Het |
Acsl3 |
A |
G |
1: 78,679,004 (GRCm39) |
D520G |
probably damaging |
Het |
Adgrl3 |
T |
C |
5: 81,796,560 (GRCm39) |
V623A |
probably benign |
Het |
Ak9 |
G |
T |
10: 41,223,218 (GRCm39) |
V454L |
probably damaging |
Het |
Alpk2 |
C |
A |
18: 65,482,558 (GRCm39) |
K483N |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,893,281 (GRCm39) |
Y974C |
probably damaging |
Het |
Armc8 |
C |
T |
9: 99,418,211 (GRCm39) |
|
probably benign |
Het |
Atp2a2 |
C |
T |
5: 122,595,696 (GRCm39) |
|
probably benign |
Het |
Atrn |
T |
C |
2: 130,812,147 (GRCm39) |
|
probably null |
Het |
Caps2 |
T |
A |
10: 112,039,943 (GRCm39) |
|
probably benign |
Het |
Cep76 |
A |
G |
18: 67,756,374 (GRCm39) |
S486P |
probably damaging |
Het |
Cep97 |
C |
T |
16: 55,735,265 (GRCm39) |
R583H |
probably benign |
Het |
Cog7 |
A |
G |
7: 121,555,363 (GRCm39) |
|
probably benign |
Het |
Commd5 |
T |
A |
15: 76,784,768 (GRCm39) |
V55E |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,874,543 (GRCm39) |
D684E |
possibly damaging |
Het |
Ctxn2 |
T |
C |
2: 124,989,376 (GRCm39) |
M1T |
probably null |
Het |
Exph5 |
A |
G |
9: 53,288,775 (GRCm39) |
D1952G |
unknown |
Het |
Fmo2 |
A |
T |
1: 162,704,343 (GRCm39) |
L521Q |
possibly damaging |
Het |
Fryl |
T |
A |
5: 73,222,702 (GRCm39) |
T1960S |
probably damaging |
Het |
G6pd2 |
T |
C |
5: 61,967,017 (GRCm39) |
L264P |
probably damaging |
Het |
Gne |
A |
T |
4: 44,039,033 (GRCm39) |
V647E |
possibly damaging |
Het |
Grb14 |
G |
A |
2: 64,745,071 (GRCm39) |
Q96* |
probably null |
Het |
Gtf3c1 |
A |
G |
7: 125,298,134 (GRCm39) |
F146L |
probably damaging |
Het |
Gvin3 |
C |
A |
7: 106,202,093 (GRCm39) |
V384L |
possibly damaging |
Het |
Irak2 |
A |
G |
6: 113,615,525 (GRCm39) |
Y6C |
probably damaging |
Het |
Kel |
T |
A |
6: 41,679,965 (GRCm39) |
N75I |
probably damaging |
Het |
Lgr4 |
T |
A |
2: 109,842,132 (GRCm39) |
F706I |
possibly damaging |
Het |
Lox |
A |
T |
18: 52,661,955 (GRCm39) |
S149R |
probably benign |
Het |
Lrrc66 |
T |
G |
5: 73,768,287 (GRCm39) |
D218A |
probably benign |
Het |
Luc7l |
C |
T |
17: 26,485,296 (GRCm39) |
R99W |
probably damaging |
Het |
Megf10 |
T |
C |
18: 57,385,968 (GRCm39) |
V327A |
probably benign |
Het |
Mthfd1l |
G |
T |
10: 3,997,976 (GRCm39) |
|
probably null |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,175,358 (GRCm39) |
|
probably null |
Het |
Or5b109 |
A |
T |
19: 13,212,424 (GRCm39) |
D270V |
possibly damaging |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pgf |
C |
T |
12: 85,216,159 (GRCm39) |
R153K |
probably benign |
Het |
Pramel12 |
A |
T |
4: 143,144,170 (GRCm39) |
Q172L |
probably damaging |
Het |
Prdm2 |
A |
G |
4: 142,861,835 (GRCm39) |
V485A |
probably damaging |
Het |
Rag1 |
T |
C |
2: 101,473,028 (GRCm39) |
T705A |
probably damaging |
Het |
Rflna |
A |
C |
5: 125,080,774 (GRCm39) |
D48A |
possibly damaging |
Het |
Rtn4 |
T |
A |
11: 29,656,475 (GRCm39) |
S94T |
probably damaging |
Het |
Scn11a |
G |
A |
9: 119,640,226 (GRCm39) |
T223I |
probably benign |
Het |
Scube2 |
T |
A |
7: 109,436,327 (GRCm39) |
|
probably benign |
Het |
Septin14 |
T |
C |
5: 129,774,972 (GRCm39) |
I68V |
probably benign |
Het |
Sil1 |
A |
T |
18: 35,399,910 (GRCm39) |
L365Q |
possibly damaging |
Het |
Sirt1 |
A |
G |
10: 63,157,515 (GRCm39) |
|
probably benign |
Het |
Slc9a1 |
T |
C |
4: 133,147,810 (GRCm39) |
|
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,687,336 (GRCm39) |
T355A |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,141,110 (GRCm39) |
I6074T |
probably damaging |
Het |
Thbs2 |
T |
A |
17: 14,900,587 (GRCm39) |
H540L |
probably benign |
Het |
Tsc22d4 |
T |
C |
5: 137,766,283 (GRCm39) |
S450P |
probably benign |
Het |
Tshr |
C |
A |
12: 91,505,000 (GRCm39) |
S54* |
probably null |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Uncx |
G |
T |
5: 139,529,942 (GRCm39) |
C65F |
probably damaging |
Het |
Vmn1r87 |
A |
T |
7: 12,865,756 (GRCm39) |
M177K |
probably damaging |
Het |
Vmn2r56 |
A |
T |
7: 12,444,235 (GRCm39) |
C466S |
probably benign |
Het |
Wnk1 |
G |
A |
6: 119,925,466 (GRCm39) |
P1831S |
probably damaging |
Het |
Zfp820 |
T |
C |
17: 22,037,901 (GRCm39) |
S476G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTCCTGGTAGAAGAATTGGACAC -3'
(R):5'- GAATCAGAATGCTTGCAGTCCGC -3'
Sequencing Primer
(F):5'- GAATTGGACACTCGGGGTC -3'
(R):5'- GCTGACCAACTTCAGCAGG -3'
|
Posted On |
2013-07-30 |