Incidental Mutation 'R5700:Trim34b'
ID |
450845 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim34b
|
Ensembl Gene |
ENSMUSG00000090215 |
Gene Name |
tripartite motif-containing 34B |
Synonyms |
Trim34-2, Gm15134 |
MMRRC Submission |
043328-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R5700 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103978678-103986116 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 103985618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 418
(V418F)
|
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 damaging
Transcript: ENSMUST00000106847
AA Change: V418F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102460 Gene: ENSMUSG00000090215 AA Change: V418F
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 damaging
Transcript: ENSMUST00000178316
AA Change: V418F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136248 Gene: ENSMUSG00000090215 AA Change: V418F
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 damaging
Transcript: ENSMUST00000180136
AA Change: V418F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136926 Gene: ENSMUSG00000090215 AA Change: V418F
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 |
0.2684 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,786,633 (GRCm39) |
Q155L |
probably benign |
Het |
Acadvl |
A |
C |
11: 69,904,029 (GRCm39) |
Y242D |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
Barx2 |
A |
T |
9: 31,770,061 (GRCm39) |
F156I |
probably damaging |
Het |
Best1 |
T |
C |
19: 9,974,563 (GRCm39) |
|
probably benign |
Het |
Btbd8 |
T |
C |
5: 107,651,514 (GRCm39) |
S136P |
possibly damaging |
Het |
Btla |
T |
A |
16: 45,070,936 (GRCm39) |
Y298* |
probably null |
Het |
Casr |
T |
A |
16: 36,329,979 (GRCm39) |
I452F |
probably damaging |
Het |
Ccser1 |
C |
A |
6: 61,288,260 (GRCm39) |
P141H |
probably benign |
Het |
Cr2 |
A |
G |
1: 194,842,065 (GRCm39) |
V296A |
probably damaging |
Het |
Csl |
T |
A |
10: 99,594,877 (GRCm39) |
I63F |
probably damaging |
Het |
Dbt |
G |
A |
3: 116,313,952 (GRCm39) |
V40M |
probably damaging |
Het |
Fam53b |
A |
T |
7: 132,361,749 (GRCm39) |
L93Q |
probably damaging |
Het |
Fdps |
T |
C |
3: 89,002,956 (GRCm39) |
I105V |
probably damaging |
Het |
Gm4884 |
A |
G |
7: 40,692,643 (GRCm39) |
D204G |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,808,003 (GRCm39) |
|
probably benign |
Het |
Gm7367 |
A |
T |
7: 59,805,510 (GRCm39) |
|
noncoding transcript |
Het |
Grid2 |
T |
A |
6: 64,071,416 (GRCm39) |
V413D |
possibly damaging |
Het |
Hgf |
C |
T |
5: 16,815,122 (GRCm39) |
P471L |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
Hs6st3 |
C |
T |
14: 119,376,199 (GRCm39) |
R125* |
probably null |
Het |
Kdm4b |
T |
C |
17: 56,658,700 (GRCm39) |
I15T |
possibly damaging |
Het |
Klhl1 |
T |
C |
14: 96,755,476 (GRCm39) |
N93S |
probably benign |
Het |
Klhl6 |
G |
A |
16: 19,775,968 (GRCm39) |
Q197* |
probably null |
Het |
Medag |
T |
C |
5: 149,345,682 (GRCm39) |
V7A |
probably benign |
Het |
Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
Nckap5 |
C |
T |
1: 125,904,662 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
C |
11: 59,024,020 (GRCm39) |
K550R |
probably benign |
Het |
Or2d36 |
A |
G |
7: 106,746,748 (GRCm39) |
N75S |
probably benign |
Het |
Or2w1b |
T |
A |
13: 21,300,171 (GRCm39) |
V103E |
probably damaging |
Het |
Or5h25 |
T |
A |
16: 58,930,356 (GRCm39) |
I206F |
probably damaging |
Het |
Or7a42 |
T |
C |
10: 78,791,318 (GRCm39) |
I93T |
probably damaging |
Het |
Parp6 |
T |
C |
9: 59,532,010 (GRCm39) |
S101P |
probably damaging |
Het |
Plcd3 |
T |
C |
11: 102,964,589 (GRCm39) |
N594S |
probably benign |
Het |
Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
Ppp2r1b |
T |
C |
9: 50,789,457 (GRCm39) |
Y443H |
probably damaging |
Het |
Prnd |
G |
A |
2: 131,795,263 (GRCm39) |
V128I |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,309,697 (GRCm39) |
P156Q |
probably damaging |
Het |
Scmh1 |
T |
C |
4: 120,374,143 (GRCm39) |
V445A |
probably benign |
Het |
Serpinb6c |
A |
T |
13: 34,083,291 (GRCm39) |
M41K |
probably damaging |
Het |
Slc66a1 |
C |
T |
4: 139,027,565 (GRCm39) |
S259N |
probably damaging |
Het |
Spns1 |
A |
G |
7: 125,971,641 (GRCm39) |
V303A |
possibly damaging |
Het |
Ston1 |
T |
A |
17: 88,951,767 (GRCm39) |
S639R |
probably damaging |
Het |
Thbs4 |
T |
C |
13: 92,913,461 (GRCm39) |
D153G |
probably benign |
Het |
Timm44 |
T |
C |
8: 4,324,171 (GRCm39) |
Y36C |
probably damaging |
Het |
Vmn1r72 |
C |
T |
7: 11,404,350 (GRCm39) |
V33M |
probably damaging |
Het |
Zcchc7 |
T |
C |
4: 44,931,084 (GRCm39) |
V412A |
probably benign |
Het |
Zfand1 |
T |
A |
3: 10,406,079 (GRCm39) |
N210I |
probably damaging |
Het |
Zfhx3 |
A |
G |
8: 109,660,499 (GRCm39) |
H1251R |
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 |
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 |
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'- TGTCTGAAAAGAATGCCTGGACC -3'
(R):5'- ACTCAGGAGTTCAGAGGACAC -3'
Sequencing Primer
(F):5'- GACCCTGGGAGTTTACACTAG -3'
(R):5'- TCATGGGGGCTGGACAGTC -3'
|
Posted On |
2017-01-03 |