Incidental Mutation 'R5194:Trim34a'
ID |
399961 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim34a
|
Ensembl Gene |
ENSMUSG00000056144 |
Gene Name |
tripartite motif-containing 34A |
Synonyms |
Trim34-1, Trim34 |
MMRRC Submission |
042770-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R5194 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103893664-103911441 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103910200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 334
(N334S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102462
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051795]
[ENSMUST00000060315]
[ENSMUST00000098179]
[ENSMUST00000106848]
[ENSMUST00000106849]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051795
|
SMART Domains |
Protein: ENSMUSP00000050084 Gene: ENSMUSG00000060441
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
3.64e-7 |
SMART |
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
coiled coil region
|
172 |
232 |
N/A |
INTRINSIC |
Pfam:SPRY
|
349 |
485 |
9.2e-22 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060315
AA Change: N334S
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000055058 Gene: ENSMUSG00000056144 AA Change: N334S
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 |
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
Pfam:SPRY
|
347 |
474 |
1e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098179
|
SMART Domains |
Protein: ENSMUSP00000095781 Gene: ENSMUSG00000060441
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
3.64e-7 |
SMART |
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
Pfam:SPRY
|
351 |
493 |
1.6e-13 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106848
AA Change: N334S
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102461 Gene: ENSMUSG00000056144 AA Change: N334S
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 |
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
Pfam:SPRY
|
345 |
484 |
6.5e-21 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106849
AA Change: N334S
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102462 Gene: ENSMUSG00000056144 AA Change: N334S
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 |
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
Pfam:SPRY
|
345 |
484 |
6.5e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217156
|
Meta Mutation Damage Score |
0.1464 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
C |
17: 48,348,059 (GRCm39) |
N82D |
probably benign |
Het |
Aadacl4fm2 |
A |
G |
4: 144,281,652 (GRCm39) |
V380A |
probably benign |
Het |
Acadm |
C |
T |
3: 153,638,755 (GRCm39) |
R206H |
possibly damaging |
Het |
Acly |
T |
A |
11: 100,414,372 (GRCm39) |
Y18F |
probably benign |
Het |
Acnat2 |
G |
T |
4: 49,380,452 (GRCm39) |
Q291K |
probably benign |
Het |
Agtpbp1 |
T |
C |
13: 59,648,453 (GRCm39) |
I456V |
probably benign |
Het |
Ankrd7 |
A |
G |
6: 18,868,076 (GRCm39) |
N114S |
possibly damaging |
Het |
Arfgef1 |
A |
T |
1: 10,275,132 (GRCm39) |
L307I |
probably benign |
Het |
Arhgef2 |
A |
T |
3: 88,542,956 (GRCm39) |
I383F |
probably damaging |
Het |
Cbs |
C |
T |
17: 31,843,198 (GRCm39) |
|
probably null |
Het |
Cep135 |
T |
C |
5: 76,763,624 (GRCm39) |
V538A |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,532,936 (GRCm39) |
E254G |
probably damaging |
Het |
Drc7 |
T |
C |
8: 95,788,345 (GRCm39) |
V236A |
probably benign |
Het |
Dtna |
C |
T |
18: 23,723,302 (GRCm39) |
Q169* |
probably null |
Het |
Egfem1 |
G |
A |
3: 29,411,345 (GRCm39) |
|
probably null |
Het |
Eif2ak3 |
T |
C |
6: 70,835,462 (GRCm39) |
S130P |
possibly damaging |
Het |
Ewsr1 |
T |
C |
11: 5,032,355 (GRCm39) |
N297S |
unknown |
Het |
F13a1 |
T |
G |
13: 37,156,037 (GRCm39) |
D192A |
probably damaging |
Het |
Fam120a |
A |
G |
13: 49,034,411 (GRCm39) |
V1067A |
probably benign |
Het |
Gm17490 |
T |
C |
2: 11,631,062 (GRCm39) |
Y5C |
unknown |
Het |
Gm57859 |
T |
C |
11: 113,579,654 (GRCm39) |
S350P |
possibly damaging |
Het |
Gm8587 |
C |
T |
12: 88,056,556 (GRCm39) |
|
noncoding transcript |
Het |
H2-Ab1 |
C |
T |
17: 34,488,352 (GRCm39) |
|
probably benign |
Het |
Hoxd12 |
T |
C |
2: 74,505,447 (GRCm39) |
L6P |
probably damaging |
Het |
Ifi204 |
C |
T |
1: 173,576,910 (GRCm39) |
D564N |
possibly damaging |
Het |
Irak2 |
T |
C |
6: 113,667,751 (GRCm39) |
V444A |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrba |
A |
C |
3: 86,235,526 (GRCm39) |
N877H |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,079,495 (GRCm39) |
I388V |
probably benign |
Het |
Myo9b |
C |
T |
8: 71,801,733 (GRCm39) |
A1286V |
probably benign |
Het |
Myt1l |
A |
C |
12: 29,861,647 (GRCm39) |
D143A |
unknown |
Het |
Ngfr |
T |
C |
11: 95,471,808 (GRCm39) |
N63S |
probably benign |
Het |
Or2ag16 |
A |
T |
7: 106,352,426 (GRCm39) |
H56Q |
probably benign |
Het |
Or4c3 |
T |
A |
2: 89,851,870 (GRCm39) |
Y180F |
probably damaging |
Het |
Or51a7 |
A |
G |
7: 102,615,071 (GRCm39) |
I255V |
probably benign |
Het |
Or6c70 |
C |
T |
10: 129,709,967 (GRCm39) |
V220I |
probably benign |
Het |
Or6z6 |
A |
G |
7: 6,491,519 (GRCm39) |
L118P |
probably damaging |
Het |
P2rx7 |
T |
C |
5: 122,811,858 (GRCm39) |
S390P |
probably benign |
Het |
Pcdhga4 |
A |
C |
18: 37,820,794 (GRCm39) |
Q781P |
probably benign |
Het |
Phip |
G |
A |
9: 82,790,915 (GRCm39) |
S677F |
probably benign |
Het |
Ptpdc1 |
C |
A |
13: 48,740,265 (GRCm39) |
V389F |
possibly damaging |
Het |
Rab2a |
T |
A |
4: 8,604,381 (GRCm39) |
I161N |
probably benign |
Het |
Rnf113a2 |
T |
A |
12: 84,464,111 (GRCm39) |
M1K |
probably null |
Het |
Schip1 |
T |
C |
3: 68,402,205 (GRCm39) |
V122A |
probably benign |
Het |
Sdr16c5 |
C |
A |
4: 4,006,663 (GRCm39) |
A210S |
probably benign |
Het |
Sh3bp1 |
A |
G |
15: 78,787,301 (GRCm39) |
K83E |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,166,012 (GRCm39) |
S1541G |
possibly damaging |
Het |
Slc22a21 |
T |
C |
11: 53,870,673 (GRCm39) |
Y4C |
probably damaging |
Het |
Smco1 |
C |
T |
16: 32,092,592 (GRCm39) |
H88Y |
probably damaging |
Het |
Tll2 |
T |
C |
19: 41,084,336 (GRCm39) |
D697G |
probably damaging |
Het |
Ubqln1 |
A |
G |
13: 58,346,847 (GRCm39) |
I64T |
probably benign |
Het |
Vstm2b |
T |
A |
7: 40,551,912 (GRCm39) |
|
probably null |
Het |
Wdr17 |
A |
G |
8: 55,140,639 (GRCm39) |
F238L |
probably damaging |
Het |
Wiz |
T |
C |
17: 32,596,822 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,579,434 (GRCm39) |
S560G |
probably benign |
Het |
|
Other mutations in Trim34a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00503:Trim34a
|
APN |
7 |
103,910,538 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00826:Trim34a
|
APN |
7 |
103,910,140 (GRCm39) |
splice site |
probably null |
|
IGL01526:Trim34a
|
APN |
7 |
103,909,706 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01859:Trim34a
|
APN |
7 |
103,910,149 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02052:Trim34a
|
APN |
7 |
103,897,038 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02192:Trim34a
|
APN |
7 |
103,896,939 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL02351:Trim34a
|
APN |
7 |
103,910,441 (GRCm39) |
nonsense |
probably null |
|
IGL02358:Trim34a
|
APN |
7 |
103,910,441 (GRCm39) |
nonsense |
probably null |
|
IGL03326:Trim34a
|
APN |
7 |
103,910,587 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03366:Trim34a
|
APN |
7 |
103,910,140 (GRCm39) |
splice site |
probably null |
|
Gold_belt
|
UTSW |
7 |
103,910,271 (GRCm39) |
nonsense |
probably null |
|
PIT4472001:Trim34a
|
UTSW |
7 |
103,897,155 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4791001:Trim34a
|
UTSW |
7 |
103,909,691 (GRCm39) |
missense |
probably benign |
0.15 |
R0115:Trim34a
|
UTSW |
7 |
103,897,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R0848:Trim34a
|
UTSW |
7 |
103,910,331 (GRCm39) |
missense |
probably benign |
|
R1016:Trim34a
|
UTSW |
7 |
103,897,167 (GRCm39) |
missense |
probably benign |
0.10 |
R1477:Trim34a
|
UTSW |
7 |
103,897,287 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1622:Trim34a
|
UTSW |
7 |
103,910,545 (GRCm39) |
splice site |
probably null |
|
R2287:Trim34a
|
UTSW |
7 |
103,910,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R3685:Trim34a
|
UTSW |
7 |
103,909,333 (GRCm39) |
splice site |
probably null |
|
R4166:Trim34a
|
UTSW |
7 |
103,910,223 (GRCm39) |
missense |
probably benign |
0.02 |
R4967:Trim34a
|
UTSW |
7 |
103,910,271 (GRCm39) |
nonsense |
probably null |
|
R4979:Trim34a
|
UTSW |
7 |
103,897,069 (GRCm39) |
missense |
probably benign |
0.00 |
R5443:Trim34a
|
UTSW |
7 |
103,909,420 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5631:Trim34a
|
UTSW |
7 |
103,897,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R5902:Trim34a
|
UTSW |
7 |
103,910,328 (GRCm39) |
nonsense |
probably null |
|
R6147:Trim34a
|
UTSW |
7 |
103,910,398 (GRCm39) |
missense |
probably damaging |
0.99 |
R6644:Trim34a
|
UTSW |
7 |
103,910,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R7971:Trim34a
|
UTSW |
7 |
103,897,025 (GRCm39) |
missense |
probably damaging |
0.98 |
R8060:Trim34a
|
UTSW |
7 |
103,910,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R8278:Trim34a
|
UTSW |
7 |
103,898,623 (GRCm39) |
missense |
probably damaging |
0.99 |
R8356:Trim34a
|
UTSW |
7 |
103,910,178 (GRCm39) |
missense |
probably damaging |
0.99 |
R9275:Trim34a
|
UTSW |
7 |
103,910,201 (GRCm39) |
missense |
probably damaging |
0.96 |
R9563:Trim34a
|
UTSW |
7 |
103,910,328 (GRCm39) |
nonsense |
probably null |
|
X0023:Trim34a
|
UTSW |
7 |
103,908,622 (GRCm39) |
missense |
probably benign |
0.43 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAAGCTCTCCAGTGTTGGC -3'
(R):5'- GCTGTAACCCTATAACCCAGTAG -3'
Sequencing Primer
(F):5'- GGCTTTTCACAGTGTTTCACAAAC -3'
(R):5'- ATAACCCAGTAGCCATTCTGTG -3'
|
Posted On |
2016-07-06 |