Incidental Mutation 'IGL02944:Trim30a'
ID |
364641 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trim30a
|
Ensembl Gene |
ENSMUSG00000030921 |
Gene Name |
tripartite motif-containing 30A |
Synonyms |
Rpt-1, Rpt1, Trim30 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL02944
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
104058232-104114400 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 104084984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 75
(N75K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076922]
|
AlphaFold |
P15533 |
PDB Structure |
Solution structure of the Zinc finger, C3HC4 type (RING finger) domain Tripartite motif protein 30 [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076922
AA Change: N75K
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000076189 Gene: ENSMUSG00000030921 AA Change: N75K
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
2.88e-10 |
SMART |
BBOX
|
91 |
132 |
3.52e-14 |
SMART |
coiled coil region
|
173 |
241 |
N/A |
INTRINSIC |
low complexity region
|
255 |
265 |
N/A |
INTRINSIC |
Pfam:SPRY
|
349 |
493 |
1.6e-8 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice show increased CD4/CD8 ratio with age, an abnormal CD4+ T cell response upon TCR activation, and reduced effector function of CD4+ T cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
A |
G |
7: 75,258,405 (GRCm39) |
Q343R |
probably benign |
Het |
Antxr1 |
T |
A |
6: 87,165,141 (GRCm39) |
N432I |
possibly damaging |
Het |
Arhgap15 |
T |
C |
2: 44,032,362 (GRCm39) |
|
probably null |
Het |
Atp6v1h |
T |
A |
1: 5,163,578 (GRCm39) |
|
probably benign |
Het |
Cav2 |
T |
C |
6: 17,281,456 (GRCm39) |
Y33H |
probably damaging |
Het |
Ccdc175 |
T |
A |
12: 72,164,667 (GRCm39) |
D585V |
probably benign |
Het |
Coro7 |
T |
C |
16: 4,453,276 (GRCm39) |
D271G |
probably benign |
Het |
Cylc1 |
T |
A |
X: 110,167,373 (GRCm39) |
D551E |
possibly damaging |
Het |
Dnah1 |
A |
T |
14: 31,022,828 (GRCm39) |
I1103N |
possibly damaging |
Het |
Gmds |
T |
A |
13: 32,522,435 (GRCm39) |
Y11F |
probably benign |
Het |
Igkv13-54-1 |
C |
T |
6: 69,594,374 (GRCm39) |
|
noncoding transcript |
Het |
Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Mageb11 |
A |
G |
X: 89,935,868 (GRCm39) |
K41E |
probably benign |
Het |
Mbd1 |
G |
A |
18: 74,410,481 (GRCm39) |
G428E |
probably damaging |
Het |
Myom2 |
A |
T |
8: 15,154,065 (GRCm39) |
|
probably null |
Het |
Nav2 |
C |
T |
7: 49,070,004 (GRCm39) |
R287W |
probably damaging |
Het |
Nfs1 |
C |
T |
2: 155,969,688 (GRCm39) |
D320N |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,258,076 (GRCm39) |
T565S |
probably benign |
Het |
Nod1 |
A |
T |
6: 54,901,932 (GRCm39) |
I951N |
possibly damaging |
Het |
Or1n1b |
T |
G |
2: 36,780,800 (GRCm39) |
E20A |
possibly damaging |
Het |
Or2ag1b |
A |
G |
7: 106,288,476 (GRCm39) |
L154P |
probably damaging |
Het |
Or52e8b |
A |
G |
7: 104,674,130 (GRCm39) |
L19P |
probably damaging |
Het |
Or8d2 |
A |
T |
9: 38,760,048 (GRCm39) |
I213F |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,364,927 (GRCm39) |
Y689H |
probably damaging |
Het |
Ppp2r5c |
A |
G |
12: 110,534,234 (GRCm39) |
I366V |
probably benign |
Het |
Ppp3cb |
T |
C |
14: 20,578,303 (GRCm39) |
Y149C |
probably damaging |
Het |
Prdm1 |
T |
C |
10: 44,317,807 (GRCm39) |
S354G |
probably benign |
Het |
Ralgapa1 |
T |
A |
12: 55,804,736 (GRCm39) |
Q520L |
probably benign |
Het |
Slc25a54 |
A |
T |
3: 108,987,931 (GRCm39) |
Y24F |
probably benign |
Het |
Slfn3 |
T |
A |
11: 83,103,837 (GRCm39) |
V236E |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,482,865 (GRCm39) |
|
probably benign |
Het |
Vmn1r175 |
T |
C |
7: 23,508,591 (GRCm39) |
E12G |
probably damaging |
Het |
Xylt1 |
A |
T |
7: 117,233,984 (GRCm39) |
T504S |
probably benign |
Het |
|
Other mutations in Trim30a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02677:Trim30a
|
APN |
7 |
104,085,120 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03135:Trim30a
|
APN |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
BB009:Trim30a
|
UTSW |
7 |
104,078,545 (GRCm39) |
missense |
probably benign |
0.00 |
BB019:Trim30a
|
UTSW |
7 |
104,078,545 (GRCm39) |
missense |
probably benign |
0.00 |
R0049:Trim30a
|
UTSW |
7 |
104,078,559 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0049:Trim30a
|
UTSW |
7 |
104,078,559 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0682:Trim30a
|
UTSW |
7 |
104,078,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R1773:Trim30a
|
UTSW |
7 |
104,085,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R1862:Trim30a
|
UTSW |
7 |
104,060,405 (GRCm39) |
missense |
probably damaging |
0.99 |
R1872:Trim30a
|
UTSW |
7 |
104,078,417 (GRCm39) |
missense |
probably benign |
0.01 |
R1986:Trim30a
|
UTSW |
7 |
104,060,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Trim30a
|
UTSW |
7 |
104,079,437 (GRCm39) |
splice site |
probably benign |
|
R2259:Trim30a
|
UTSW |
7 |
104,060,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R2571:Trim30a
|
UTSW |
7 |
104,078,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3719:Trim30a
|
UTSW |
7 |
104,060,370 (GRCm39) |
missense |
probably benign |
0.00 |
R3880:Trim30a
|
UTSW |
7 |
104,060,396 (GRCm39) |
missense |
probably benign |
|
R3910:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
R3911:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
R3912:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
R4343:Trim30a
|
UTSW |
7 |
104,084,799 (GRCm39) |
missense |
probably benign |
0.00 |
R4572:Trim30a
|
UTSW |
7 |
104,060,395 (GRCm39) |
nonsense |
probably null |
|
R4587:Trim30a
|
UTSW |
7 |
104,084,851 (GRCm39) |
nonsense |
probably null |
|
R4997:Trim30a
|
UTSW |
7 |
104,060,827 (GRCm39) |
missense |
probably benign |
0.21 |
R5051:Trim30a
|
UTSW |
7 |
104,060,913 (GRCm39) |
intron |
probably benign |
|
R5414:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R5613:Trim30a
|
UTSW |
7 |
104,079,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R5930:Trim30a
|
UTSW |
7 |
104,070,657 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6262:Trim30a
|
UTSW |
7 |
104,060,741 (GRCm39) |
missense |
probably benign |
0.00 |
R7133:Trim30a
|
UTSW |
7 |
104,078,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7222:Trim30a
|
UTSW |
7 |
104,070,639 (GRCm39) |
splice site |
probably null |
|
R7739:Trim30a
|
UTSW |
7 |
104,079,386 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7797:Trim30a
|
UTSW |
7 |
104,060,407 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7803:Trim30a
|
UTSW |
7 |
104,060,604 (GRCm39) |
nonsense |
probably null |
|
R7836:Trim30a
|
UTSW |
7 |
104,084,802 (GRCm39) |
missense |
probably benign |
0.06 |
R7908:Trim30a
|
UTSW |
7 |
104,070,656 (GRCm39) |
missense |
probably benign |
0.01 |
R7932:Trim30a
|
UTSW |
7 |
104,078,545 (GRCm39) |
missense |
probably benign |
0.00 |
R7934:Trim30a
|
UTSW |
7 |
104,061,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R8240:Trim30a
|
UTSW |
7 |
104,070,663 (GRCm39) |
missense |
probably benign |
0.01 |
R8405:Trim30a
|
UTSW |
7 |
104,060,749 (GRCm39) |
nonsense |
probably null |
|
R8778:Trim30a
|
UTSW |
7 |
104,060,772 (GRCm39) |
missense |
probably benign |
0.30 |
R8825:Trim30a
|
UTSW |
7 |
104,060,529 (GRCm39) |
nonsense |
probably null |
|
R9022:Trim30a
|
UTSW |
7 |
104,084,956 (GRCm39) |
missense |
probably benign |
0.03 |
R9423:Trim30a
|
UTSW |
7 |
104,078,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R9492:Trim30a
|
UTSW |
7 |
104,078,330 (GRCm39) |
missense |
probably damaging |
0.99 |
X0012:Trim30a
|
UTSW |
7 |
104,079,410 (GRCm39) |
nonsense |
probably null |
|
Z1088:Trim30a
|
UTSW |
7 |
104,084,861 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Trim30a
|
UTSW |
7 |
104,060,670 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-12-18 |