Incidental Mutation 'R8778:Trim30a'
| ID |
670119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim30a
|
| Ensembl Gene |
ENSMUSG00000030921 |
| Gene Name |
tripartite motif-containing 30A |
| Synonyms |
Rpt-1, Rpt1, Trim30 |
| MMRRC Submission |
068603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R8778 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
104058232-104114400 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104060772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 335
(Y335N)
|
| 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: Y335N
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000076189
Gene: ENSMUSG00000030921
AA Change: Y335N
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (48/49) |
| 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 |
|---|
| A430033K04Rik |
T |
A |
5: 138,645,149 (GRCm39) |
C345S |
possibly damaging |
Het |
| Acod1 |
A |
G |
14: 103,292,918 (GRCm39) |
T481A |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 85,432,687 (GRCm39) |
V5A |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,783,158 (GRCm38) |
Q1023L |
|
Het |
| Akt1 |
C |
T |
12: 112,625,102 (GRCm39) |
E149K |
probably benign |
Het |
| Arhgap10 |
T |
C |
8: 78,140,240 (GRCm39) |
E240G |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,999,258 (GRCm39) |
P516S |
probably benign |
Het |
| Ccdc88c |
T |
C |
12: 100,911,483 (GRCm39) |
R784G |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,350,374 (GRCm39) |
L656* |
probably null |
Het |
| Chd2 |
A |
C |
7: 73,079,483 (GRCm39) |
S1806A |
possibly damaging |
Het |
| Cyp4f15 |
G |
T |
17: 32,921,378 (GRCm39) |
A475S |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,455,718 (GRCm39) |
T814A |
probably benign |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
G |
A |
16: 20,492,196 (GRCm39) |
|
probably benign |
Het |
| Entpd8 |
G |
A |
2: 24,971,858 (GRCm39) |
V9I |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,478,026 (GRCm39) |
T65M |
probably damaging |
Het |
| Gabrr2 |
T |
C |
4: 33,095,517 (GRCm39) |
Y469H |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 98,873,842 (GRCm39) |
M1V |
probably null |
Het |
| Golga7 |
T |
C |
8: 23,735,944 (GRCm39) |
N101D |
possibly damaging |
Het |
| Hebp1 |
A |
G |
6: 135,145,068 (GRCm39) |
F10L |
probably benign |
Het |
| Hs3st3a1 |
T |
A |
11: 64,327,251 (GRCm39) |
V120E |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Iho1 |
A |
G |
9: 108,282,807 (GRCm39) |
S294P |
probably damaging |
Het |
| Inhbc |
A |
G |
10: 127,193,693 (GRCm39) |
S108P |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,078,075 (GRCm39) |
D188E |
probably benign |
Het |
| Lmo7 |
T |
G |
14: 102,149,503 (GRCm39) |
S1091A |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,156,655 (GRCm39) |
V1275A |
probably benign |
Het |
| Lrrc25 |
T |
G |
8: 71,070,242 (GRCm39) |
L8V |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,810,361 (GRCm39) |
I677T |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,903,152 (GRCm39) |
N3174S |
possibly damaging |
Het |
| Mgst3 |
C |
T |
1: 167,203,032 (GRCm39) |
V80I |
probably benign |
Het |
| Mtmr12 |
A |
G |
15: 12,270,006 (GRCm39) |
N698S |
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,714,150 (GRCm39) |
Y748C |
probably damaging |
Het |
| Myoz2 |
T |
C |
3: 122,800,156 (GRCm39) |
N224S |
possibly damaging |
Het |
| Nebl |
T |
C |
2: 17,409,078 (GRCm39) |
Y340C |
probably damaging |
Het |
| Or10h28 |
T |
C |
17: 33,488,420 (GRCm39) |
S241P |
probably damaging |
Het |
| Pcdha9 |
G |
T |
18: 37,132,244 (GRCm39) |
V438L |
possibly damaging |
Het |
| Pramel13 |
T |
C |
4: 144,119,466 (GRCm39) |
D367G |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,943,356 (GRCm39) |
E208V |
probably damaging |
Het |
| Sfrp2 |
T |
G |
3: 83,674,093 (GRCm39) |
L82R |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,624,815 (GRCm39) |
L239Q |
probably damaging |
Het |
| Syncrip |
A |
T |
9: 88,338,294 (GRCm39) |
I590N |
unknown |
Het |
| Syne1 |
T |
C |
10: 5,309,066 (GRCm39) |
T648A |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,222,816 (GRCm39) |
Y172C |
unknown |
Het |
| Trmt10c |
A |
G |
16: 55,855,372 (GRCm39) |
S88P |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,725,070 (GRCm39) |
E302G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,591,580 (GRCm39) |
T21030A |
possibly damaging |
Het |
| Uba6 |
G |
T |
5: 86,260,556 (GRCm39) |
P1039T |
possibly damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,497 (GRCm39) |
I435N |
probably benign |
Het |
| Zfp1008 |
T |
C |
13: 62,753,169 (GRCm39) |
K73E |
possibly damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,155,142 (GRCm39) |
V271A |
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 |
|
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 |
|
|
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'- CCAGTAGCCACATTTAGGCTG -3'
(R):5'- AACAAGGCTTCTCCAAGTTTCC -3'
Sequencing Primer
(F):5'- TAGCCACATTTAGGCTGAAACAATAC -3'
(R):5'- CCTTATGCTTCTGTTGCTTAAGTTAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation