Incidental Mutation 'R5051:Trim30a'
| ID |
394649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim30a
|
| Ensembl Gene |
ENSMUSG00000030921 |
| Gene Name |
tripartite motif-containing 30A |
| Synonyms |
Rpt-1, Rpt1, Trim30 |
| MMRRC Submission |
042641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5051 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104058232-104114400 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 104060913 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 benign
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142124
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
| Validation Efficiency |
98% (62/63) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
G |
A |
11: 25,718,990 (GRCm39) |
T51I |
unknown |
Het |
| Alms1 |
C |
T |
6: 85,604,916 (GRCm39) |
Q2189* |
probably null |
Het |
| Ank1 |
A |
T |
8: 23,609,397 (GRCm39) |
D1363V |
probably damaging |
Het |
| Ap3d1 |
T |
G |
10: 80,555,033 (GRCm39) |
T431P |
probably damaging |
Het |
| Arnt |
A |
G |
3: 95,377,648 (GRCm39) |
T125A |
probably benign |
Het |
| Atp10a |
TGTCCGTC |
TGTC |
7: 58,389,994 (GRCm39) |
|
probably null |
Het |
| Bscl2 |
A |
T |
19: 8,822,643 (GRCm39) |
R195* |
probably null |
Het |
| Ccdc146 |
C |
T |
5: 21,508,081 (GRCm39) |
V656I |
possibly damaging |
Het |
| Ccn6 |
A |
G |
10: 39,031,152 (GRCm39) |
F124L |
probably benign |
Het |
| Ccr4 |
T |
C |
9: 114,321,714 (GRCm39) |
Y117C |
probably damaging |
Het |
| Cd55 |
T |
A |
1: 130,376,085 (GRCm39) |
D355V |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,749,558 (GRCm39) |
I259N |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,793,020 (GRCm39) |
I252V |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,696,472 (GRCm39) |
V895A |
probably benign |
Het |
| Ect2 |
A |
G |
3: 27,156,635 (GRCm39) |
V775A |
probably benign |
Het |
| Gm14486 |
T |
C |
2: 30,548,889 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,756,393 (GRCm39) |
N444S |
possibly damaging |
Het |
| Heatr5b |
T |
C |
17: 79,102,703 (GRCm39) |
D1225G |
probably damaging |
Het |
| Il1rl2 |
G |
A |
1: 40,382,254 (GRCm39) |
V189I |
probably benign |
Het |
| Kif1a |
G |
A |
1: 93,003,876 (GRCm39) |
|
probably null |
Het |
| Ltbr |
T |
A |
6: 125,289,733 (GRCm39) |
T154S |
probably damaging |
Het |
| Mrgpra6 |
C |
T |
7: 46,835,690 (GRCm39) |
V244I |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,378,251 (GRCm39) |
|
probably null |
Het |
| Ndufs1 |
A |
G |
1: 63,204,106 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,268,913 (GRCm39) |
N496K |
possibly damaging |
Het |
| Nkd2 |
A |
G |
13: 73,973,195 (GRCm39) |
V147A |
probably benign |
Het |
| Nlrp3 |
G |
C |
11: 59,457,025 (GRCm39) |
R1013P |
probably benign |
Het |
| Or4d11 |
C |
A |
19: 12,013,288 (GRCm39) |
V273F |
possibly damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,599 (GRCm39) |
Y258* |
probably null |
Het |
| Pdk2 |
T |
C |
11: 94,919,598 (GRCm39) |
S263G |
probably benign |
Het |
| Pla2g4e |
T |
A |
2: 120,004,785 (GRCm39) |
I520F |
probably damaging |
Het |
| Plat |
A |
G |
8: 23,263,688 (GRCm39) |
T196A |
probably benign |
Het |
| Podn |
T |
A |
4: 107,872,043 (GRCm39) |
D400V |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,943,357 (GRCm39) |
V147A |
possibly damaging |
Het |
| Prkar2a |
A |
G |
9: 108,622,690 (GRCm39) |
N315D |
probably benign |
Het |
| Rac2 |
A |
G |
15: 78,449,134 (GRCm39) |
I13T |
possibly damaging |
Het |
| Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
| Relch |
T |
A |
1: 105,619,711 (GRCm39) |
N313K |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,279,196 (GRCm39) |
I240S |
probably damaging |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Tead4 |
A |
C |
6: 128,271,262 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
G |
A |
4: 48,460,019 (GRCm39) |
A444V |
possibly damaging |
Het |
| Tgds |
A |
T |
14: 118,365,639 (GRCm39) |
I73K |
probably damaging |
Het |
| Tmem117 |
C |
A |
15: 94,612,794 (GRCm39) |
T110K |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,548,636 (GRCm39) |
T636I |
probably damaging |
Het |
| Ybey |
G |
A |
10: 76,304,173 (GRCm39) |
R10W |
probably damaging |
Het |
| Zap70 |
A |
G |
1: 36,820,532 (GRCm39) |
I576V |
probably benign |
Het |
| Zfp64 |
T |
C |
2: 168,768,304 (GRCm39) |
D436G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGTAATGCTTCCCTGAGG -3'
(R):5'- CATCTGGAGAGGTGATGGGC -3'
Sequencing Primer
(F):5'- TCCCTGAGGAAAGAGCTGGATATC -3'
(R):5'- CATCATTTCAGGACTCATGGATATCC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation