Incidental Mutation 'R4449:Trim34b'
ID |
328883 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim34b
|
Ensembl Gene |
ENSMUSG00000090215 |
Gene Name |
tripartite motif-containing 34B |
Synonyms |
Trim34-2, Gm15134 |
MMRRC Submission |
041710-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R4449 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103978678-103986116 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103984935 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 318
(C318R)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059037]
[ENSMUST00000106847]
[ENSMUST00000130139]
[ENSMUST00000180136]
|
AlphaFold |
J3QNR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059037
|
SMART Domains |
Protein: ENSMUSP00000060100 Gene: ENSMUSG00000057143
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
5.51e-7 |
SMART |
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
Pfam:SPRY
|
351 |
493 |
8.7e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106847
|
SMART Domains |
Protein: ENSMUSP00000102460 Gene: ENSMUSG00000090215
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 benign
Transcript: ENSMUST00000130139
|
SMART Domains |
Protein: ENSMUSP00000116775 Gene: ENSMUSG00000057143
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
5.51e-7 |
SMART |
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143414
AA Change: C318R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125728 Gene: ENSMUSG00000056144 AA Change: C318R
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
6.79e-7 |
SMART |
BBOX
|
91 |
132 |
1.08e-9 |
SMART |
coiled coil region
|
194 |
238 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180136
|
SMART Domains |
Protein: ENSMUSP00000136926 Gene: ENSMUSG00000090215
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184402
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgap3 |
A |
T |
15: 83,218,759 (GRCm39) |
Y105N |
probably damaging |
Het |
Arid3b |
T |
A |
9: 57,705,404 (GRCm39) |
K266* |
probably null |
Het |
Bend3 |
A |
G |
10: 43,388,079 (GRCm39) |
E824G |
possibly damaging |
Het |
Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
Cadm1 |
T |
A |
9: 47,725,286 (GRCm39) |
|
probably benign |
Het |
Cadm1 |
C |
T |
9: 47,441,735 (GRCm39) |
A22V |
possibly damaging |
Het |
Cntrob |
C |
A |
11: 69,196,375 (GRCm39) |
D687Y |
probably benign |
Het |
Dap3 |
A |
T |
3: 88,857,185 (GRCm39) |
|
probably benign |
Het |
Ddc |
T |
C |
11: 11,785,802 (GRCm39) |
D295G |
probably damaging |
Het |
Fut10 |
T |
A |
8: 31,726,285 (GRCm39) |
Y347N |
probably damaging |
Het |
Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Helz |
T |
C |
11: 107,494,989 (GRCm39) |
V321A |
probably benign |
Het |
Hnrnpul1 |
T |
C |
7: 25,421,709 (GRCm39) |
|
probably benign |
Het |
Hsdl2 |
T |
A |
4: 59,617,692 (GRCm39) |
I353K |
possibly damaging |
Het |
Igkv3-2 |
G |
A |
6: 70,675,825 (GRCm39) |
A45T |
probably benign |
Het |
Kcnh6 |
A |
G |
11: 105,909,762 (GRCm39) |
Y429C |
probably damaging |
Het |
Luzp1 |
T |
A |
4: 136,268,174 (GRCm39) |
N132K |
probably damaging |
Het |
Mlycd |
T |
A |
8: 120,137,144 (GRCm39) |
Y455N |
probably damaging |
Het |
Myl7 |
C |
T |
11: 5,847,354 (GRCm39) |
D115N |
probably damaging |
Het |
Or52s1 |
A |
T |
7: 102,861,687 (GRCm39) |
I196F |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,877,827 (GRCm39) |
T461A |
probably damaging |
Het |
Pi4kb |
C |
T |
3: 94,892,046 (GRCm39) |
S254L |
probably benign |
Het |
Pitpnc1 |
A |
G |
11: 107,107,535 (GRCm39) |
V257A |
probably benign |
Het |
Prpf40b |
A |
G |
15: 99,212,544 (GRCm39) |
D596G |
probably damaging |
Het |
Rngtt |
T |
C |
4: 33,330,865 (GRCm39) |
F156S |
probably damaging |
Het |
Sema3c |
A |
G |
5: 17,781,844 (GRCm39) |
|
probably benign |
Het |
Shisa6 |
T |
C |
11: 66,416,244 (GRCm39) |
T183A |
probably benign |
Het |
Skint3 |
T |
A |
4: 112,127,206 (GRCm39) |
V287E |
possibly damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Slc17a3 |
A |
T |
13: 24,040,715 (GRCm39) |
S392C |
probably damaging |
Het |
Snx14 |
T |
C |
9: 88,305,052 (GRCm39) |
I81V |
probably benign |
Het |
Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
Trappc12 |
A |
T |
12: 28,797,234 (GRCm39) |
D99E |
probably benign |
Het |
Ttc39a |
T |
C |
4: 109,299,500 (GRCm39) |
I449T |
possibly damaging |
Het |
Twsg1 |
A |
C |
17: 66,233,305 (GRCm39) |
V215G |
possibly damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Ubr1 |
A |
G |
2: 120,776,862 (GRCm39) |
V293A |
possibly damaging |
Het |
Unk |
G |
A |
11: 115,944,460 (GRCm39) |
G404S |
probably damaging |
Het |
Virma |
T |
C |
4: 11,498,828 (GRCm39) |
|
probably null |
Het |
Vps13b |
T |
C |
15: 35,876,939 (GRCm39) |
V2864A |
possibly damaging |
Het |
Wdfy4 |
T |
A |
14: 32,818,040 (GRCm39) |
R1492W |
probably damaging |
Het |
Zcchc3 |
G |
C |
2: 152,256,642 (GRCm39) |
P19R |
probably benign |
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 |
R0381:Trim34b
|
UTSW |
7 |
103,979,062 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- GTTCTTGTTTACCAGAGAGGACC -3'
(R):5'- TACAGGATCTTGCTAAGTGTCC -3'
Sequencing Primer
(F):5'- GTTTACCAGAGAGGACCTTTAAAC -3'
(R):5'- CTAAGTGTCCCAGGATAGCCTATAG -3'
|
Posted On |
2015-07-21 |