Incidental Mutation 'R0381:Trim34b'
ID |
30974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim34b
|
Ensembl Gene |
ENSMUSG00000090215 |
Gene Name |
tripartite motif-containing 34B |
Synonyms |
Trim34-2, Gm15134 |
MMRRC Submission |
038587-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R0381 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
103978678-103986116 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103979062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 103
(L103P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136926
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106847]
[ENSMUST00000180136]
|
AlphaFold |
J3QNR8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106847
AA Change: L103P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102460 Gene: ENSMUSG00000090215 AA Change: L103P
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
7.8e-7 |
SMART |
ZnF_RBZ
|
31 |
61 |
5.96e-1 |
SMART |
BBOX
|
91 |
132 |
2.15e-9 |
SMART |
low complexity region
|
195 |
209 |
N/A |
INTRINSIC |
Blast:PRY
|
299 |
343 |
3e-21 |
BLAST |
Pfam:SPRY
|
347 |
474 |
7.8e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000180136
AA Change: L103P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136926 Gene: ENSMUSG00000090215 AA Change: L103P
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
7.8e-7 |
SMART |
ZnF_RBZ
|
31 |
61 |
5.96e-1 |
SMART |
BBOX
|
91 |
132 |
2.15e-9 |
SMART |
low complexity region
|
195 |
209 |
N/A |
INTRINSIC |
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
Pfam:SPRY
|
345 |
484 |
3e-20 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
G |
7: 45,757,858 (GRCm39) |
V1297A |
possibly damaging |
Het |
Agbl2 |
C |
T |
2: 90,614,442 (GRCm39) |
H25Y |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,750,990 (GRCm39) |
W466R |
probably benign |
Het |
Ccdc66 |
T |
A |
14: 27,213,890 (GRCm39) |
Q471L |
probably damaging |
Het |
Dennd1c |
G |
A |
17: 57,380,822 (GRCm39) |
A210V |
probably damaging |
Het |
F13b |
A |
G |
1: 139,438,597 (GRCm39) |
K334E |
probably damaging |
Het |
Fam186a |
A |
C |
15: 99,840,055 (GRCm39) |
I2063R |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,353,767 (GRCm39) |
Y371H |
probably damaging |
Het |
Fnbp1 |
C |
T |
2: 30,923,041 (GRCm39) |
G549D |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,794,067 (GRCm39) |
Y869H |
probably benign |
Het |
Gm7592 |
A |
G |
1: 85,454,437 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
T |
1: 150,479,562 (GRCm39) |
C4634Y |
probably damaging |
Het |
Kctd5 |
A |
G |
17: 24,278,194 (GRCm39) |
|
probably null |
Het |
Kics2 |
T |
C |
10: 121,581,280 (GRCm39) |
Y94H |
probably damaging |
Het |
Mettl24 |
C |
A |
10: 40,622,386 (GRCm39) |
H203N |
probably damaging |
Het |
Mitf |
A |
G |
6: 97,970,104 (GRCm39) |
E17G |
probably damaging |
Het |
Mmut |
T |
A |
17: 41,248,149 (GRCm39) |
W59R |
probably benign |
Het |
Mrc1 |
G |
A |
2: 14,312,720 (GRCm39) |
D881N |
probably benign |
Het |
Mrm1 |
T |
C |
11: 84,709,509 (GRCm39) |
T183A |
possibly damaging |
Het |
Mylk |
G |
A |
16: 34,605,344 (GRCm39) |
|
probably null |
Het |
Nab2 |
G |
A |
10: 127,500,936 (GRCm39) |
A19V |
probably damaging |
Het |
Ntsr2 |
T |
A |
12: 16,709,719 (GRCm39) |
Y333* |
probably null |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Sypl2 |
T |
C |
3: 108,133,473 (GRCm39) |
E32G |
possibly damaging |
Het |
Tasp1 |
T |
C |
2: 139,793,403 (GRCm39) |
K258E |
probably damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tenm4 |
G |
T |
7: 96,555,088 (GRCm39) |
V2561F |
probably damaging |
Het |
Tmc1 |
T |
C |
19: 20,776,409 (GRCm39) |
Y650C |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,662,600 (GRCm39) |
|
probably null |
Het |
Vmn1r201 |
T |
A |
13: 22,659,193 (GRCm39) |
W136R |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,268,264 (GRCm39) |
Y68* |
probably null |
Het |
Wscd2 |
T |
A |
5: 113,689,192 (GRCm39) |
L66Q |
probably damaging |
Het |
|
Other mutations in Trim34b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00975:Trim34b
|
APN |
7 |
103,978,859 (GRCm39) |
nonsense |
probably null |
|
IGL01103:Trim34b
|
APN |
7 |
103,979,106 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02252:Trim34b
|
APN |
7 |
103,979,139 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03241:Trim34b
|
APN |
7 |
103,983,820 (GRCm39) |
intron |
probably benign |
|
R0032:Trim34b
|
UTSW |
7 |
103,985,784 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2403:Trim34b
|
UTSW |
7 |
103,978,876 (GRCm39) |
missense |
probably benign |
|
R2520:Trim34b
|
UTSW |
7 |
103,980,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R2857:Trim34b
|
UTSW |
7 |
103,985,439 (GRCm39) |
missense |
probably benign |
0.00 |
R2859:Trim34b
|
UTSW |
7 |
103,985,439 (GRCm39) |
missense |
probably benign |
0.00 |
R3077:Trim34b
|
UTSW |
7 |
103,980,508 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4094:Trim34b
|
UTSW |
7 |
103,983,795 (GRCm39) |
missense |
probably benign |
|
R4449:Trim34b
|
UTSW |
7 |
103,984,935 (GRCm39) |
missense |
probably benign |
0.00 |
R5183:Trim34b
|
UTSW |
7 |
103,979,118 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5700:Trim34b
|
UTSW |
7 |
103,985,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R5759:Trim34b
|
UTSW |
7 |
103,980,640 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6236:Trim34b
|
UTSW |
7 |
103,985,525 (GRCm39) |
missense |
probably damaging |
0.99 |
R6364:Trim34b
|
UTSW |
7 |
103,985,733 (GRCm39) |
missense |
probably damaging |
0.99 |
R7034:Trim34b
|
UTSW |
7 |
103,978,743 (GRCm39) |
start gained |
probably benign |
|
R7036:Trim34b
|
UTSW |
7 |
103,978,743 (GRCm39) |
start gained |
probably benign |
|
R7237:Trim34b
|
UTSW |
7 |
103,978,794 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7392:Trim34b
|
UTSW |
7 |
103,985,604 (GRCm39) |
missense |
probably benign |
0.00 |
R7405:Trim34b
|
UTSW |
7 |
103,985,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Trim34b
|
UTSW |
7 |
103,978,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R7646:Trim34b
|
UTSW |
7 |
103,984,559 (GRCm39) |
missense |
probably damaging |
0.97 |
R7909:Trim34b
|
UTSW |
7 |
103,979,731 (GRCm39) |
missense |
probably benign |
0.01 |
R8396:Trim34b
|
UTSW |
7 |
103,979,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R8472:Trim34b
|
UTSW |
7 |
103,980,545 (GRCm39) |
missense |
probably benign |
0.00 |
R8806:Trim34b
|
UTSW |
7 |
103,985,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R9476:Trim34b
|
UTSW |
7 |
103,980,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R9510:Trim34b
|
UTSW |
7 |
103,980,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R9645:Trim34b
|
UTSW |
7 |
103,980,474 (GRCm39) |
missense |
probably benign |
0.12 |
Z1176:Trim34b
|
UTSW |
7 |
103,984,521 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Trim34b
|
UTSW |
7 |
103,980,560 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGCCTGTCTCATCTCGAACAAG -3'
(R):5'- GCGTTAGGAACCCAGTGGTAATGTG -3'
Sequencing Primer
(F):5'- TCATCTCGAACAAGAATGCAGTG -3'
(R):5'- CCCAGTGGTAATGTGAATCAAG -3'
|
Posted On |
2013-04-24 |