Incidental Mutation 'IGL01701:Trim30b'
ID |
104468 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trim30b
|
Ensembl Gene |
ENSMUSG00000052749 |
Gene Name |
tripartite motif-containing 30B |
Synonyms |
A530023O14Rik, Trim30-1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01701
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
104004605-104007853 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to C
at 104015258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 43
(Y43*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106831]
[ENSMUST00000164410]
|
AlphaFold |
E9PVL6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000106831
AA Change: Y43*
|
SMART Domains |
Protein: ENSMUSP00000102444 Gene: ENSMUSG00000052749 AA Change: Y43*
Domain | Start | End | E-Value | Type |
RING
|
15 |
59 |
4.37e-10 |
SMART |
BBOX
|
92 |
133 |
2.82e-13 |
SMART |
coiled coil region
|
138 |
228 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145982
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164410
AA Change: Y43*
|
SMART Domains |
Protein: ENSMUSP00000131747 Gene: ENSMUSG00000052749 AA Change: Y43*
Domain | Start | End | E-Value | Type |
RING
|
15 |
59 |
4.37e-10 |
SMART |
BBOX
|
92 |
133 |
2.82e-13 |
SMART |
coiled coil region
|
138 |
171 |
N/A |
INTRINSIC |
low complexity region
|
190 |
199 |
N/A |
INTRINSIC |
|
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 |
4930568D16Rik |
A |
G |
2: 35,254,776 (GRCm39) |
Y36H |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,567,750 (GRCm39) |
D5141G |
possibly damaging |
Het |
Adk |
G |
A |
14: 21,153,922 (GRCm39) |
E42K |
probably damaging |
Het |
Akap1 |
C |
A |
11: 88,735,958 (GRCm39) |
V268L |
probably benign |
Het |
Arl6ip5 |
A |
G |
6: 97,187,774 (GRCm39) |
|
probably benign |
Het |
Atrx |
A |
G |
X: 104,874,526 (GRCm39) |
S1945P |
probably damaging |
Het |
Clec5a |
G |
A |
6: 40,559,160 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,232,741 (GRCm39) |
|
probably benign |
Het |
Cul3 |
G |
T |
1: 80,255,140 (GRCm39) |
H6Q |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,669,012 (GRCm39) |
|
probably benign |
Het |
Furin |
C |
A |
7: 80,042,240 (GRCm39) |
V452F |
probably benign |
Het |
Furin |
T |
A |
7: 80,040,507 (GRCm39) |
D777V |
probably benign |
Het |
Gm57859 |
T |
C |
11: 113,579,927 (GRCm39) |
F441L |
probably benign |
Het |
Hmgb4 |
G |
A |
4: 128,154,166 (GRCm39) |
T134I |
probably benign |
Het |
Ift74 |
A |
T |
4: 94,550,895 (GRCm39) |
E349V |
possibly damaging |
Het |
Igkv6-23 |
A |
T |
6: 70,237,880 (GRCm39) |
L13Q |
probably damaging |
Het |
Lekr1 |
A |
T |
3: 65,591,425 (GRCm39) |
Y54F |
probably damaging |
Het |
Lman1 |
A |
T |
18: 66,127,921 (GRCm39) |
V241E |
possibly damaging |
Het |
Mat1a |
T |
A |
14: 40,836,772 (GRCm39) |
D167E |
probably benign |
Het |
Myl6 |
G |
A |
10: 128,327,966 (GRCm39) |
A130V |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,791,877 (GRCm39) |
|
probably null |
Het |
Nlrp4f |
A |
T |
13: 65,347,223 (GRCm39) |
W12R |
probably damaging |
Het |
Nr1h4 |
T |
C |
10: 89,314,669 (GRCm39) |
R276G |
probably benign |
Het |
Or4f61 |
T |
C |
2: 111,922,851 (GRCm39) |
N65S |
possibly damaging |
Het |
Or5m13b |
C |
A |
2: 85,754,421 (GRCm39) |
Q270K |
possibly damaging |
Het |
Pag1 |
C |
T |
3: 9,758,886 (GRCm39) |
E411K |
probably damaging |
Het |
Prorp |
T |
G |
12: 55,355,660 (GRCm39) |
|
probably benign |
Het |
Rttn |
A |
G |
18: 89,082,339 (GRCm39) |
N1422D |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,759,235 (GRCm39) |
R3345Q |
probably damaging |
Het |
Slc12a8 |
T |
C |
16: 33,361,280 (GRCm39) |
L85P |
probably damaging |
Het |
Slc22a17 |
T |
C |
14: 55,144,718 (GRCm39) |
H565R |
probably damaging |
Het |
Slc46a3 |
T |
C |
5: 147,823,108 (GRCm39) |
T245A |
probably benign |
Het |
Thsd7b |
A |
G |
1: 129,358,665 (GRCm39) |
H33R |
probably benign |
Het |
Tmem131 |
A |
G |
1: 36,847,318 (GRCm39) |
V1260A |
probably benign |
Het |
Tmem30a |
A |
T |
9: 79,681,461 (GRCm39) |
F236Y |
probably damaging |
Het |
Trpc3 |
T |
C |
3: 36,725,743 (GRCm39) |
K78E |
possibly damaging |
Het |
Twist2 |
A |
T |
1: 91,729,736 (GRCm39) |
M130L |
probably benign |
Het |
Ube2q2l |
T |
A |
6: 136,377,804 (GRCm39) |
Y342F |
probably damaging |
Het |
|
Other mutations in Trim30b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02262:Trim30b
|
APN |
7 |
104,015,107 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03297:Trim30b
|
APN |
7 |
104,015,102 (GRCm39) |
missense |
probably benign |
0.40 |
R0078:Trim30b
|
UTSW |
7 |
104,015,102 (GRCm39) |
missense |
probably benign |
0.40 |
R0416:Trim30b
|
UTSW |
7 |
104,012,973 (GRCm39) |
missense |
probably benign |
0.08 |
R0511:Trim30b
|
UTSW |
7 |
104,015,010 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0555:Trim30b
|
UTSW |
7 |
104,006,505 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0609:Trim30b
|
UTSW |
7 |
104,007,183 (GRCm39) |
start gained |
probably benign |
|
R1317:Trim30b
|
UTSW |
7 |
104,006,542 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1318:Trim30b
|
UTSW |
7 |
104,006,542 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1528:Trim30b
|
UTSW |
7 |
104,006,506 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1603:Trim30b
|
UTSW |
7 |
104,015,019 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3859:Trim30b
|
UTSW |
7 |
104,006,487 (GRCm39) |
missense |
probably benign |
0.00 |
R4052:Trim30b
|
UTSW |
7 |
104,006,685 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4576:Trim30b
|
UTSW |
7 |
104,006,538 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4577:Trim30b
|
UTSW |
7 |
104,006,538 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4578:Trim30b
|
UTSW |
7 |
104,006,538 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5705:Trim30b
|
UTSW |
7 |
104,006,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R5753:Trim30b
|
UTSW |
7 |
104,006,544 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5846:Trim30b
|
UTSW |
7 |
104,006,578 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5914:Trim30b
|
UTSW |
7 |
104,006,572 (GRCm39) |
missense |
probably damaging |
0.98 |
R6083:Trim30b
|
UTSW |
7 |
104,015,349 (GRCm39) |
missense |
probably damaging |
0.98 |
R6862:Trim30b
|
UTSW |
7 |
104,012,960 (GRCm39) |
missense |
probably damaging |
0.98 |
R7216:Trim30b
|
UTSW |
7 |
104,006,569 (GRCm39) |
missense |
probably benign |
0.22 |
R8062:Trim30b
|
UTSW |
7 |
104,015,393 (GRCm39) |
start gained |
probably benign |
|
R8516:Trim30b
|
UTSW |
7 |
104,006,611 (GRCm39) |
missense |
probably benign |
0.00 |
R8552:Trim30b
|
UTSW |
7 |
104,015,236 (GRCm39) |
missense |
probably benign |
0.01 |
R8824:Trim30b
|
UTSW |
7 |
104,007,113 (GRCm39) |
start gained |
probably benign |
|
Z1088:Trim30b
|
UTSW |
7 |
104,015,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |