Incidental Mutation 'R2859:Trim34b'
ID |
252645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim34b
|
Ensembl Gene |
ENSMUSG00000090215 |
Gene Name |
tripartite motif-containing 34B |
Synonyms |
Trim34-2, Gm15134 |
MMRRC Submission |
040449-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R2859 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103978678-103986116 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103985439 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 358
(N358I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136926
(fasta)
|
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
AA Change: N358I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000102460 Gene: ENSMUSG00000090215 AA Change: N358I
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: ENSMUST00000178316
AA Change: N358I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000136248 Gene: ENSMUSG00000090215 AA Change: N358I
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
|
345 |
484 |
3e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180136
AA Change: N358I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000136926 Gene: ENSMUSG00000090215 AA Change: N358I
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: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,500,288 (GRCm39) |
Y1301C |
possibly damaging |
Het |
Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
Cadm3 |
A |
G |
1: 173,174,112 (GRCm39) |
S34P |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
Ceacam1 |
T |
A |
7: 25,173,442 (GRCm39) |
I249F |
probably damaging |
Het |
Cuzd1 |
C |
T |
7: 130,917,863 (GRCm39) |
V246M |
probably damaging |
Het |
Ehd2 |
A |
T |
7: 15,698,054 (GRCm39) |
V61E |
probably damaging |
Het |
Fibin |
C |
T |
2: 110,192,542 (GRCm39) |
R200H |
probably damaging |
Het |
Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
Garin3 |
T |
C |
11: 46,296,039 (GRCm39) |
I137T |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Iqgap3 |
C |
A |
3: 88,014,903 (GRCm39) |
S873* |
probably null |
Het |
Ism2 |
T |
C |
12: 87,346,437 (GRCm39) |
M15V |
unknown |
Het |
Itk |
T |
G |
11: 46,235,662 (GRCm39) |
|
probably benign |
Het |
Mastl |
C |
A |
2: 23,029,979 (GRCm39) |
C249F |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
Mrgprb4 |
T |
A |
7: 47,848,084 (GRCm39) |
R281S |
possibly damaging |
Het |
Mthfd1 |
T |
C |
12: 76,335,699 (GRCm39) |
Y258H |
probably damaging |
Het |
Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
Or1j12 |
T |
C |
2: 36,343,142 (GRCm39) |
S182P |
probably benign |
Het |
Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
Or3a1b |
T |
C |
11: 74,012,808 (GRCm39) |
I231T |
probably damaging |
Het |
Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
Parm1 |
A |
G |
5: 91,742,165 (GRCm39) |
T178A |
possibly damaging |
Het |
Patl1 |
T |
C |
19: 11,901,195 (GRCm39) |
F282L |
probably damaging |
Het |
Phospho2 |
T |
C |
2: 69,626,195 (GRCm39) |
V117A |
possibly damaging |
Het |
Ppp4r3a |
T |
C |
12: 101,008,906 (GRCm39) |
|
probably null |
Het |
Pramel29 |
A |
G |
4: 143,936,192 (GRCm39) |
S23P |
probably benign |
Het |
Rbm17 |
A |
G |
2: 11,595,515 (GRCm39) |
F230S |
possibly damaging |
Het |
Robo3 |
C |
A |
9: 37,339,400 (GRCm39) |
G196* |
probably null |
Het |
Samhd1 |
A |
G |
2: 156,948,149 (GRCm39) |
|
probably null |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Thbs4 |
A |
G |
13: 92,927,216 (GRCm39) |
F91S |
probably benign |
Het |
Ulk1 |
A |
G |
5: 110,942,495 (GRCm39) |
L255P |
probably damaging |
Het |
Vmn2r104 |
T |
A |
17: 20,268,455 (GRCm39) |
I5F |
possibly damaging |
Het |
Vrk2 |
C |
A |
11: 26,433,324 (GRCm39) |
S286I |
possibly damaging |
Het |
Zswim3 |
T |
C |
2: 164,662,309 (GRCm39) |
L263P |
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 |
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 |
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'- ACAAGCTACCTCCATATTTGCC -3'
(R):5'- AGGGTCACAGTTGGAAGAATCC -3'
Sequencing Primer
(F):5'- CCTCTAGACAACTTCACATTTAATCC -3'
(R):5'- TCACAGTTGGAAGAATCCTCAAAG -3'
|
Posted On |
2014-12-04 |