Incidental Mutation 'R8405:Trim30a'
| ID |
652350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim30a
|
| Ensembl Gene |
ENSMUSG00000030921 |
| Gene Name |
tripartite motif-containing 30A |
| Synonyms |
Rpt-1, Rpt1, Trim30 |
| MMRRC Submission |
067879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R8405 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
104058232-104114400 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 104060749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 342
(Y342*)
|
| 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
AA Change: Y342*
|
| SMART Domains |
Protein: ENSMUSP00000076189
Gene: ENSMUSG00000030921
AA Change: Y342*
| 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 |
|---|
| Acadm |
T |
C |
3: 153,635,165 (GRCm39) |
|
probably benign |
Het |
| Anxa3 |
C |
A |
5: 96,978,295 (GRCm39) |
D226E |
probably benign |
Het |
| Anxa8 |
T |
C |
14: 33,819,881 (GRCm39) |
L290P |
probably damaging |
Het |
| Brd4 |
C |
A |
17: 32,448,505 (GRCm39) |
K57N |
unknown |
Het |
| Cpne8 |
T |
A |
15: 90,456,235 (GRCm39) |
Q176L |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,093 (GRCm39) |
D439G |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,619,379 (GRCm39) |
S1832P |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,304,241 (GRCm39) |
S1320P |
possibly damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,894 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,349,289 (GRCm39) |
L2449Q |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,379,192 (GRCm39) |
M640V |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,612,024 (GRCm39) |
S622N |
probably benign |
Het |
| Ergic1 |
T |
A |
17: 26,874,096 (GRCm39) |
I274N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,907,167 (GRCm39) |
D2945G |
probably damaging |
Het |
| Fscb |
T |
C |
12: 64,520,278 (GRCm39) |
E396G |
possibly damaging |
Het |
| Gab1 |
T |
A |
8: 81,501,594 (GRCm39) |
R581* |
probably null |
Het |
| Gabarapl1 |
A |
G |
6: 129,514,497 (GRCm39) |
D45G |
probably null |
Het |
| Gfap |
C |
A |
11: 102,782,255 (GRCm39) |
Q418H |
probably benign |
Het |
| Gfap |
T |
A |
11: 102,782,256 (GRCm39) |
Q418L |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,874,178 (GRCm39) |
M33L |
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,533,446 (GRCm39) |
K1144N |
probably benign |
Het |
| Lrit3 |
C |
T |
3: 129,582,301 (GRCm39) |
G562D |
probably benign |
Het |
| Mab21l1 |
A |
T |
3: 55,690,659 (GRCm39) |
Q82L |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,382,508 (GRCm39) |
K1258R |
unknown |
Het |
| Nbas |
C |
A |
12: 13,329,394 (GRCm39) |
A113E |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,073,356 (GRCm39) |
D162E |
possibly damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,031,155 (GRCm39) |
H572L |
probably benign |
Het |
| Or52s1 |
A |
T |
7: 102,861,408 (GRCm39) |
I114F |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,208 (GRCm39) |
S145T |
probably benign |
Het |
| Pcdha12 |
T |
A |
18: 37,154,250 (GRCm39) |
V323E |
possibly damaging |
Het |
| Pgm5 |
T |
A |
19: 24,705,106 (GRCm39) |
H469L |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pja2 |
T |
C |
17: 64,616,505 (GRCm39) |
E130G |
possibly damaging |
Het |
| Ppp2r2b |
G |
C |
18: 42,778,805 (GRCm39) |
D443E |
probably benign |
Het |
| Prdm9 |
T |
A |
17: 15,764,456 (GRCm39) |
T775S |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,730,016 (GRCm39) |
S211P |
probably benign |
Het |
| Rgl2 |
C |
T |
17: 34,152,698 (GRCm39) |
Q408* |
probably null |
Het |
| Rgs14 |
C |
T |
13: 55,530,962 (GRCm39) |
R389W |
probably damaging |
Het |
| Rtcb |
T |
C |
10: 85,793,534 (GRCm39) |
D13G |
probably benign |
Het |
| Slc23a4 |
C |
T |
6: 34,923,145 (GRCm39) |
C280Y |
probably benign |
Het |
| Slc7a5 |
G |
T |
8: 122,613,661 (GRCm39) |
T297K |
possibly damaging |
Het |
| Spef2 |
A |
G |
15: 9,612,643 (GRCm39) |
V1229A |
probably benign |
Het |
| Stag3 |
A |
C |
5: 138,302,914 (GRCm39) |
T1064P |
probably damaging |
Het |
| Tnnt1 |
A |
G |
7: 4,510,592 (GRCm39) |
S211P |
probably damaging |
Het |
| Trim26 |
A |
G |
17: 37,167,095 (GRCm39) |
D262G |
possibly damaging |
Het |
| Trpm7 |
T |
C |
2: 126,658,755 (GRCm39) |
I1134V |
probably benign |
Het |
| Tsc22d1 |
G |
A |
14: 76,655,734 (GRCm39) |
G738S |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,305,521 (GRCm39) |
F421L |
probably damaging |
Het |
| Vmn2r97 |
G |
A |
17: 19,134,802 (GRCm39) |
|
probably null |
Het |
| Zfat |
T |
C |
15: 68,018,410 (GRCm39) |
Y968C |
probably damaging |
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 |
|
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 |
|
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'- AGGCCTTGTATACAGACGGATTC -3'
(R):5'- GGTTGCACCTTATGTTTCATTTGAC -3'
Sequencing Primer
(F):5'- CCAGTAGCCACATTTAGGCTG -3'
(R):5'- ACCTTATGTTTCATTTGACTCAAAAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation