Incidental Mutation 'R7222:Trim30a'
ID |
568683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim30a
|
Ensembl Gene |
ENSMUSG00000030921 |
Gene Name |
tripartite motif-containing 30A |
Synonyms |
Rpt-1, Rpt1, Trim30 |
MMRRC Submission |
045294-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R7222 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
104058232-104114400 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 104070639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000076922
|
SMART Domains |
Protein: ENSMUSP00000076189 Gene: ENSMUSG00000030921
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (49/50) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,082,519 (GRCm39) |
N1151K |
probably benign |
Het |
Add3 |
T |
C |
19: 53,205,277 (GRCm39) |
V9A |
unknown |
Het |
Ankar |
A |
G |
1: 72,705,514 (GRCm39) |
I832T |
probably damaging |
Het |
Arhgef10l |
C |
A |
4: 140,248,580 (GRCm39) |
W785L |
probably damaging |
Het |
Atp7b |
G |
A |
8: 22,512,394 (GRCm39) |
Q490* |
probably null |
Het |
Chrna5 |
A |
G |
9: 54,905,347 (GRCm39) |
D53G |
probably benign |
Het |
Clip1 |
T |
A |
5: 123,749,904 (GRCm39) |
N993I |
probably damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,033,385 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
A |
7: 119,670,746 (GRCm39) |
N651Y |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,404,929 (GRCm39) |
|
probably null |
Het |
Eva1c |
AGGGTGTCCTGTACGAAGGACTTCCGGG |
AGGG |
16: 90,701,072 (GRCm39) |
|
probably benign |
Het |
Flg |
T |
A |
3: 93,195,621 (GRCm39) |
S74T |
unknown |
Het |
Fras1 |
T |
C |
5: 96,784,045 (GRCm39) |
Y850H |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,784,668 (GRCm39) |
T884S |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,814,015 (GRCm39) |
T3445A |
probably benign |
Het |
Herc1 |
C |
A |
9: 66,374,781 (GRCm39) |
P3237H |
probably damaging |
Het |
Ifi35 |
A |
G |
11: 101,348,341 (GRCm39) |
N123S |
probably benign |
Het |
Igkv1-117 |
A |
T |
6: 68,098,733 (GRCm39) |
D94V |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,309,614 (GRCm39) |
D764G |
probably damaging |
Het |
Lztr1 |
A |
G |
16: 17,341,996 (GRCm39) |
E657G |
possibly damaging |
Het |
Mmd2 |
G |
T |
5: 142,553,682 (GRCm39) |
L160I |
probably benign |
Het |
Muc2 |
A |
T |
7: 141,290,758 (GRCm39) |
T15S |
|
Het |
Muc6 |
T |
A |
7: 141,214,428 (GRCm39) |
H2835L |
unknown |
Het |
Myo1h |
G |
A |
5: 114,493,322 (GRCm39) |
|
probably null |
Het |
Or10v5 |
C |
A |
19: 11,806,021 (GRCm39) |
R123L |
probably damaging |
Het |
Or51ag1 |
A |
G |
7: 103,155,664 (GRCm39) |
V163A |
possibly damaging |
Het |
Or52n4 |
T |
C |
7: 104,293,937 (GRCm39) |
D214G |
probably damaging |
Het |
Or5d43 |
T |
A |
2: 88,104,809 (GRCm39) |
M195L |
probably benign |
Het |
Or5p72 |
A |
G |
7: 108,021,844 (GRCm39) |
D22G |
probably benign |
Het |
Or6c219 |
A |
G |
10: 129,781,758 (GRCm39) |
Y58H |
probably damaging |
Het |
Or7g32 |
A |
T |
9: 19,388,763 (GRCm39) |
V261E |
probably damaging |
Het |
Osbpl7 |
A |
G |
11: 96,951,364 (GRCm39) |
T684A |
probably damaging |
Het |
P2ry14 |
T |
C |
3: 59,022,803 (GRCm39) |
K219R |
probably benign |
Het |
Pde4d |
A |
T |
13: 109,894,113 (GRCm39) |
H156L |
probably damaging |
Het |
Polq |
G |
T |
16: 36,906,995 (GRCm39) |
E2319* |
probably null |
Het |
Ranbp3 |
T |
G |
17: 57,017,211 (GRCm39) |
V409G |
probably damaging |
Het |
Sart3 |
T |
C |
5: 113,884,717 (GRCm39) |
D629G |
probably benign |
Het |
Selenon |
T |
A |
4: 134,275,288 (GRCm39) |
T137S |
possibly damaging |
Het |
Setd2 |
T |
A |
9: 110,380,530 (GRCm39) |
D55E |
|
Het |
Slamf8 |
G |
A |
1: 172,411,775 (GRCm39) |
T240I |
possibly damaging |
Het |
Slc39a10 |
A |
G |
1: 46,858,452 (GRCm39) |
L615P |
possibly damaging |
Het |
Speer1e |
T |
A |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
Tbce |
T |
C |
13: 14,172,735 (GRCm39) |
D505G |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,754,004 (GRCm39) |
G800R |
probably damaging |
Het |
Terf2ip |
T |
C |
8: 112,738,547 (GRCm39) |
V145A |
possibly damaging |
Het |
Tmprss7 |
T |
C |
16: 45,511,256 (GRCm39) |
I41V |
probably benign |
Het |
Traj49 |
A |
T |
14: 54,406,160 (GRCm39) |
N6I |
|
Het |
Ubr4 |
T |
A |
4: 139,190,684 (GRCm39) |
S905T |
unknown |
Het |
Unc93a2 |
A |
G |
17: 7,643,866 (GRCm39) |
S148P |
probably damaging |
Het |
Zfp948 |
T |
A |
17: 21,808,102 (GRCm39) |
H431Q |
probably damaging |
Het |
Zfyve1 |
A |
G |
12: 83,601,779 (GRCm39) |
F525L |
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 |
IGL02944:Trim30a
|
APN |
7 |
104,084,984 (GRCm39) |
missense |
probably benign |
0.19 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCACTGATCCAGCTCATTAGATATC -3'
(R):5'- TGGTCTCCAATGCCTGGTAAC -3'
Sequencing Primer
(F):5'- GATCCAGCTCATTAGATATCCATAAC -3'
(R):5'- TAAGTCAAATAAAGAGACATGCACC -3'
|
Posted On |
2019-09-11 |