Incidental Mutation 'IGL00503:Trim34a'
ID |
332472 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trim34a
|
Ensembl Gene |
ENSMUSG00000056144 |
Gene Name |
tripartite motif-containing 34A |
Synonyms |
Trim34-1, Trim34 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
IGL00503
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
103893664-103911441 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103910538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 447
(T447S)
|
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 damaging
Transcript: ENSMUST00000060315
AA Change: T447S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055058 Gene: ENSMUSG00000056144 AA Change: T447S
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 damaging
Transcript: ENSMUST00000106848
AA Change: T447S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102461 Gene: ENSMUSG00000056144 AA Change: T447S
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 damaging
Transcript: ENSMUST00000106849
AA Change: T447S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102462 Gene: ENSMUSG00000056144 AA Change: T447S
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930546C10Rik |
T |
A |
18: 69,083,173 (GRCm39) |
R14* |
probably null |
Het |
Abcb5 |
A |
G |
12: 118,871,336 (GRCm39) |
S688P |
probably benign |
Het |
Adgb |
T |
A |
10: 10,281,843 (GRCm39) |
Q597L |
possibly damaging |
Het |
Aga |
G |
A |
8: 53,971,956 (GRCm39) |
V210I |
probably benign |
Het |
Akap17b |
A |
G |
X: 35,875,963 (GRCm39) |
S515P |
probably damaging |
Het |
Brinp3 |
A |
T |
1: 146,776,905 (GRCm39) |
T451S |
probably benign |
Het |
Cabcoco1 |
G |
T |
10: 68,377,635 (GRCm39) |
T18N |
possibly damaging |
Het |
Ccar2 |
C |
T |
14: 70,379,980 (GRCm39) |
W402* |
probably null |
Het |
Ccdc15 |
G |
A |
9: 37,231,769 (GRCm39) |
A185V |
probably damaging |
Het |
Ccdc50 |
G |
A |
16: 27,228,102 (GRCm39) |
E90K |
probably damaging |
Het |
Cckbr |
G |
A |
7: 105,083,449 (GRCm39) |
M217I |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,512,513 (GRCm39) |
T398A |
possibly damaging |
Het |
Col4a1 |
A |
G |
8: 11,290,076 (GRCm39) |
|
probably benign |
Het |
Cyp4v3 |
T |
A |
8: 45,760,058 (GRCm39) |
E498V |
probably damaging |
Het |
Dgke |
T |
C |
11: 88,932,327 (GRCm39) |
I488V |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,617,934 (GRCm39) |
D443G |
probably damaging |
Het |
Edem3 |
T |
G |
1: 151,694,264 (GRCm39) |
S852A |
probably benign |
Het |
Fbxo8 |
T |
A |
8: 57,041,058 (GRCm39) |
M158K |
probably benign |
Het |
Galnt15 |
C |
T |
14: 31,774,313 (GRCm39) |
T359M |
possibly damaging |
Het |
Herc6 |
A |
G |
6: 57,584,130 (GRCm39) |
N330D |
probably benign |
Het |
Kdf1 |
T |
C |
4: 133,255,468 (GRCm39) |
S62P |
probably damaging |
Het |
Larp4 |
T |
A |
15: 99,885,302 (GRCm39) |
I51N |
probably damaging |
Het |
Mfsd6l |
T |
A |
11: 68,447,299 (GRCm39) |
I50N |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,928,679 (GRCm39) |
Y4C |
probably benign |
Het |
Muc17 |
G |
T |
5: 137,165,971 (GRCm39) |
Y343* |
probably null |
Het |
Myom2 |
A |
C |
8: 15,164,289 (GRCm39) |
|
probably null |
Het |
Npat |
A |
T |
9: 53,483,949 (GRCm39) |
|
probably benign |
Het |
Pamr1 |
A |
T |
2: 102,472,617 (GRCm39) |
I639F |
possibly damaging |
Het |
Pcsk2 |
A |
G |
2: 143,635,159 (GRCm39) |
S345G |
probably damaging |
Het |
Pcyt1a |
A |
G |
16: 32,285,919 (GRCm39) |
T197A |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,784,401 (GRCm39) |
M316V |
probably benign |
Het |
Plekhs1 |
T |
C |
19: 56,453,031 (GRCm39) |
|
probably null |
Het |
Sema3e |
G |
T |
5: 14,290,586 (GRCm39) |
R557M |
probably damaging |
Het |
Sgsm1 |
T |
C |
5: 113,424,008 (GRCm39) |
N154S |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,784,706 (GRCm39) |
|
probably benign |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Spats1 |
A |
T |
17: 45,765,011 (GRCm39) |
|
probably null |
Het |
Tnfaip6 |
T |
G |
2: 51,945,859 (GRCm39) |
V235G |
probably damaging |
Het |
Tut1 |
G |
A |
19: 8,936,460 (GRCm39) |
A95T |
probably damaging |
Het |
Urgcp |
C |
T |
11: 5,666,448 (GRCm39) |
R630Q |
possibly damaging |
Het |
Vmn1r125 |
G |
T |
7: 21,006,106 (GRCm39) |
M1I |
probably null |
Het |
Vmn2r99 |
A |
G |
17: 19,599,116 (GRCm39) |
T267A |
probably benign |
Het |
Wdr5 |
A |
G |
2: 27,410,879 (GRCm39) |
K162E |
probably benign |
Het |
Zscan26 |
T |
G |
13: 21,629,271 (GRCm39) |
K285Q |
probably damaging |
Het |
|
Other mutations in Trim34a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-08-05 |