Incidental Mutation 'IGL02598:Rnf148'
| ID |
299930 |
| 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: 0.064)
|
| Stock # |
IGL02598
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
23653897-23655135 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 23654456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 180
(I180S)
|
| 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: I180S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100592
Gene: ENSMUSG00000078179
AA Change: I180S
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
T |
11: 50,834,448 (GRCm39) |
M1K |
probably null |
Het |
| Abca13 |
C |
T |
11: 9,381,898 (GRCm39) |
T3850I |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,905,781 (GRCm39) |
L95* |
probably null |
Het |
| Acacb |
A |
G |
5: 114,384,098 (GRCm39) |
Y2209C |
probably damaging |
Het |
| Acadm |
A |
G |
3: 153,644,181 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
G |
A |
15: 96,269,417 (GRCm39) |
V1177M |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,840,099 (GRCm39) |
|
probably null |
Het |
| Catsperd |
A |
G |
17: 56,954,815 (GRCm39) |
|
probably null |
Het |
| Cd28 |
A |
G |
1: 60,802,498 (GRCm39) |
|
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,682,002 (GRCm39) |
Y1934H |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,738,713 (GRCm39) |
I2377V |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,533,086 (GRCm39) |
K1581E |
probably damaging |
Het |
| Dab2 |
A |
T |
15: 6,458,847 (GRCm39) |
N232I |
probably damaging |
Het |
| Dyrk4 |
G |
A |
6: 126,860,982 (GRCm39) |
|
probably benign |
Het |
| Efcab14 |
T |
A |
4: 115,597,631 (GRCm39) |
C75* |
probably null |
Het |
| Elovl1 |
T |
C |
4: 118,288,616 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
T |
G |
7: 140,934,849 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,744,872 (GRCm39) |
V460E |
probably damaging |
Het |
| Gtf2f2 |
A |
G |
14: 76,245,182 (GRCm39) |
S35P |
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,762,568 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
T |
C |
1: 173,472,281 (GRCm39) |
V374A |
probably damaging |
Het |
| Kics2 |
G |
A |
10: 121,575,876 (GRCm39) |
|
probably benign |
Het |
| Lars1 |
A |
G |
18: 42,360,342 (GRCm39) |
S705P |
possibly damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,020,871 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
C |
9: 123,345,933 (GRCm39) |
S571P |
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,309,236 (GRCm39) |
Y312N |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,296,622 (GRCm39) |
D125E |
possibly damaging |
Het |
| Lmtk3 |
T |
C |
7: 45,442,564 (GRCm39) |
S416P |
probably damaging |
Het |
| Map7d3 |
T |
C |
X: 55,855,146 (GRCm39) |
T446A |
probably benign |
Het |
| Masp1 |
T |
A |
16: 23,278,381 (GRCm39) |
M523L |
probably benign |
Het |
| Mroh4 |
C |
A |
15: 74,483,092 (GRCm39) |
|
probably null |
Het |
| Mtmr6 |
G |
A |
14: 60,537,953 (GRCm39) |
A651T |
probably damaging |
Het |
| Myocd |
A |
G |
11: 65,074,296 (GRCm39) |
S738P |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,923 (GRCm39) |
N296I |
possibly damaging |
Het |
| Or4d5 |
A |
T |
9: 40,011,861 (GRCm39) |
F308L |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,830,163 (GRCm39) |
V134A |
probably damaging |
Het |
| Or5d46 |
A |
T |
2: 88,170,595 (GRCm39) |
I229F |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,527,142 (GRCm39) |
I256N |
possibly damaging |
Het |
| Parg |
G |
T |
14: 31,936,281 (GRCm39) |
V479L |
probably damaging |
Het |
| Pcdhb10 |
C |
A |
18: 37,546,834 (GRCm39) |
H637N |
possibly damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,059,900 (GRCm39) |
T1118I |
possibly damaging |
Het |
| Podxl |
T |
C |
6: 31,501,355 (GRCm39) |
E400G |
probably damaging |
Het |
| Prss54 |
C |
A |
8: 96,292,337 (GRCm39) |
V81F |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,464,420 (GRCm39) |
L1369P |
probably benign |
Het |
| Rfx8 |
A |
T |
1: 39,735,128 (GRCm39) |
|
probably benign |
Het |
| Rgs6 |
C |
T |
12: 83,138,571 (GRCm39) |
P302S |
probably benign |
Het |
| Sacm1l |
A |
G |
9: 123,408,061 (GRCm39) |
D350G |
probably benign |
Het |
| Slc33a1 |
C |
T |
3: 63,850,753 (GRCm39) |
G524S |
probably benign |
Het |
| Slc5a7 |
A |
G |
17: 54,591,221 (GRCm39) |
V237A |
probably benign |
Het |
| Spink7 |
T |
C |
18: 62,727,356 (GRCm39) |
D56G |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,303,063 (GRCm39) |
S31P |
probably damaging |
Het |
| Tesl1 |
A |
T |
X: 23,773,710 (GRCm39) |
T404S |
probably benign |
Het |
| Thrb |
C |
A |
14: 18,008,606 (GRCm38) |
P110Q |
possibly damaging |
Het |
| Vmn2r76 |
G |
T |
7: 85,877,879 (GRCm39) |
T506K |
probably benign |
Het |
| Vps45 |
A |
G |
3: 95,938,354 (GRCm39) |
L486P |
probably benign |
Het |
| Zan |
G |
A |
5: 137,444,473 (GRCm39) |
T1823M |
unknown |
Het |
| Zdhhc6 |
T |
A |
19: 55,302,959 (GRCm39) |
Q14L |
probably benign |
Het |
| Zfp990 |
A |
T |
4: 145,263,533 (GRCm39) |
N177I |
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 |
|
|
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 |
|
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 |
Incidental Mutation