Incidental Mutation 'R4166:Trim34a'
ID |
320582 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim34a
|
Ensembl Gene |
ENSMUSG00000056144 |
Gene Name |
tripartite motif-containing 34A |
Synonyms |
Trim34-1, Trim34 |
MMRRC Submission |
041639-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R4166 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103893664-103911441 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 103910223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 342
(C342S)
|
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 |
probably benign
Transcript: ENSMUST00000060315
AA Change: C342S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000055058 Gene: ENSMUSG00000056144 AA Change: C342S
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 |
probably benign
Transcript: ENSMUST00000106848
AA Change: C342S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000102461 Gene: ENSMUSG00000056144 AA Change: C342S
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 |
probably benign
Transcript: ENSMUST00000106849
AA Change: C342S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000102462 Gene: ENSMUSG00000056144 AA Change: C342S
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,382,912 (GRCm39) |
T1018A |
possibly damaging |
Het |
Aak1 |
T |
A |
6: 86,827,044 (GRCm39) |
F4I |
probably damaging |
Het |
Adamts8 |
G |
T |
9: 30,862,684 (GRCm39) |
E296D |
probably benign |
Het |
Ankrd35 |
T |
A |
3: 96,586,471 (GRCm39) |
|
probably null |
Het |
Arhgap20 |
G |
A |
9: 51,738,135 (GRCm39) |
|
probably null |
Het |
Bhmt |
T |
A |
13: 93,762,007 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
C |
A |
2: 24,567,923 (GRCm39) |
R1055L |
probably benign |
Het |
Cdk5r1 |
A |
G |
11: 80,369,035 (GRCm39) |
Y234C |
probably damaging |
Het |
Cdx2 |
G |
T |
5: 147,243,539 (GRCm39) |
A85D |
possibly damaging |
Het |
Cenpe |
G |
A |
3: 134,949,479 (GRCm39) |
G88D |
probably damaging |
Het |
Cfap300 |
A |
T |
9: 8,026,071 (GRCm39) |
L167Q |
probably damaging |
Het |
Dennd5a |
A |
C |
7: 109,526,032 (GRCm39) |
|
probably null |
Het |
Erich6 |
G |
A |
3: 58,526,229 (GRCm39) |
A591V |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fbln5 |
A |
G |
12: 101,723,618 (GRCm39) |
V374A |
probably damaging |
Het |
Fmn1 |
G |
A |
2: 113,467,080 (GRCm39) |
S1327N |
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,369,442 (GRCm39) |
V1081E |
probably damaging |
Het |
Gm5174 |
A |
G |
10: 86,492,797 (GRCm39) |
|
noncoding transcript |
Het |
Gpaa1 |
A |
C |
15: 76,216,667 (GRCm39) |
|
probably benign |
Het |
Grina |
T |
A |
15: 76,133,529 (GRCm39) |
L334Q |
probably damaging |
Het |
Gulp1 |
T |
A |
1: 44,747,829 (GRCm39) |
Y27* |
probably null |
Het |
Kdm3b |
A |
T |
18: 34,928,797 (GRCm39) |
I183F |
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,460,025 (GRCm39) |
I758F |
probably damaging |
Het |
Msi2 |
T |
C |
11: 88,237,914 (GRCm39) |
H346R |
probably benign |
Het |
Naip6 |
T |
A |
13: 100,452,657 (GRCm39) |
I135F |
probably benign |
Het |
Npr3 |
T |
G |
15: 11,848,599 (GRCm39) |
E202A |
probably benign |
Het |
Nsun4 |
A |
T |
4: 115,891,248 (GRCm39) |
L377Q |
probably damaging |
Het |
Oog2 |
A |
C |
4: 143,921,411 (GRCm39) |
H107P |
probably damaging |
Het |
Or14c40 |
C |
A |
7: 86,313,602 (GRCm39) |
T244N |
probably damaging |
Het |
Otof |
A |
G |
5: 30,539,762 (GRCm39) |
L1032P |
probably damaging |
Het |
Pcdh9 |
T |
A |
14: 94,124,956 (GRCm39) |
R405* |
probably null |
Het |
Pcdhb19 |
T |
A |
18: 37,632,243 (GRCm39) |
N679K |
probably benign |
Het |
Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
Prol1 |
A |
T |
5: 88,476,530 (GRCm39) |
I307F |
unknown |
Het |
Pycr1 |
T |
C |
11: 120,532,949 (GRCm39) |
I104V |
probably benign |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,335,887 (GRCm39) |
|
probably benign |
Het |
Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
Skint3 |
A |
G |
4: 112,112,832 (GRCm39) |
I147M |
possibly damaging |
Het |
Slc22a14 |
T |
G |
9: 119,007,498 (GRCm39) |
M304L |
probably benign |
Het |
Slc22a14 |
T |
C |
9: 119,008,934 (GRCm39) |
N178S |
possibly damaging |
Het |
Slc2a1 |
T |
G |
4: 118,990,313 (GRCm39) |
I179S |
probably damaging |
Het |
Slco2b1 |
G |
T |
7: 99,309,333 (GRCm39) |
T666N |
probably benign |
Het |
Smap1 |
T |
C |
1: 23,887,506 (GRCm39) |
M258V |
probably benign |
Het |
Smr3a |
A |
T |
5: 88,156,013 (GRCm39) |
|
probably benign |
Het |
Stt3b |
T |
A |
9: 115,083,969 (GRCm39) |
E402D |
probably damaging |
Het |
Sync |
T |
C |
4: 129,200,535 (GRCm39) |
|
probably benign |
Het |
Tbx20 |
T |
A |
9: 24,681,040 (GRCm39) |
I151F |
probably damaging |
Het |
Tomm22 |
C |
A |
15: 79,555,206 (GRCm39) |
|
probably benign |
Het |
Trank1 |
C |
A |
9: 111,202,592 (GRCm39) |
Y1652* |
probably null |
Het |
Txnl4a |
T |
A |
18: 80,265,471 (GRCm39) |
M112K |
probably benign |
Het |
Zfp146 |
A |
G |
7: 29,861,865 (GRCm39) |
V59A |
possibly damaging |
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 |
|
R4967:Trim34a
|
UTSW |
7 |
103,910,271 (GRCm39) |
nonsense |
probably null |
|
R4979:Trim34a
|
UTSW |
7 |
103,897,069 (GRCm39) |
missense |
probably benign |
0.00 |
R5194:Trim34a
|
UTSW |
7 |
103,910,200 (GRCm39) |
missense |
possibly damaging |
0.70 |
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'- TCTAAGCTCTCCAGTGTTGGC -3'
(R):5'- TGCTGTAACCCTATAACCCAGTAG -3'
Sequencing Primer
(F):5'- GGCTTTTCACAGTGTTTCACAAAC -3'
(R):5'- ATAACCCAGTAGCCATTCTGTG -3'
|
Posted On |
2015-06-12 |