Incidental Mutation 'IGL01859:Trim34a'
ID |
178224 |
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 # |
IGL01859
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
103893664-103911441 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103910149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 317
(E317G)
|
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: E317G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000055058 Gene: ENSMUSG00000056144 AA Change: E317G
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: E317G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102461 Gene: ENSMUSG00000056144 AA Change: E317G
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: E317G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102462 Gene: ENSMUSG00000056144 AA Change: E317G
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr4 |
A |
G |
9: 103,963,336 (GRCm39) |
|
probably benign |
Het |
Ak7 |
A |
G |
12: 105,711,556 (GRCm39) |
M398V |
probably null |
Het |
Angptl3 |
C |
T |
4: 98,925,669 (GRCm39) |
R332* |
probably null |
Het |
Ano7 |
A |
G |
1: 93,322,168 (GRCm39) |
Y392C |
probably damaging |
Het |
Arpc1b |
T |
C |
5: 145,060,540 (GRCm39) |
F18L |
probably damaging |
Het |
Cdc23 |
G |
T |
18: 34,784,459 (GRCm39) |
P73Q |
probably benign |
Het |
Cdkl1 |
A |
C |
12: 69,806,903 (GRCm39) |
L111R |
probably damaging |
Het |
Cntnap2 |
A |
G |
6: 46,965,655 (GRCm39) |
D822G |
probably damaging |
Het |
Col6a5 |
G |
A |
9: 105,808,160 (GRCm39) |
R963* |
probably null |
Het |
Crocc |
T |
C |
4: 140,756,601 (GRCm39) |
D1008G |
probably benign |
Het |
Dntt |
G |
T |
19: 41,025,743 (GRCm39) |
M120I |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,678,890 (GRCm39) |
Y1003C |
possibly damaging |
Het |
Fam178b |
T |
A |
1: 36,698,446 (GRCm39) |
R92W |
probably damaging |
Het |
Fermt2 |
A |
G |
14: 45,697,413 (GRCm39) |
V646A |
possibly damaging |
Het |
Foxc1 |
T |
C |
13: 31,992,706 (GRCm39) |
S506P |
unknown |
Het |
Gtpbp1 |
T |
A |
15: 79,603,341 (GRCm39) |
V610E |
probably benign |
Het |
H2-T15 |
A |
T |
17: 36,368,903 (GRCm39) |
M59K |
possibly damaging |
Het |
Hsdl2 |
T |
C |
4: 59,601,569 (GRCm39) |
|
probably null |
Het |
Itgb8 |
T |
A |
12: 119,153,680 (GRCm39) |
R278S |
probably damaging |
Het |
Kcnh7 |
T |
A |
2: 62,552,132 (GRCm39) |
D953V |
probably benign |
Het |
Med13 |
A |
T |
11: 86,174,577 (GRCm39) |
D1749E |
possibly damaging |
Het |
Mocos |
G |
T |
18: 24,799,717 (GRCm39) |
|
probably benign |
Het |
Pcdhb20 |
T |
G |
18: 37,637,616 (GRCm39) |
N47K |
probably damaging |
Het |
Phf21a |
T |
A |
2: 92,158,701 (GRCm39) |
F227L |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,225,915 (GRCm39) |
E907G |
probably benign |
Het |
Pla2g4e |
G |
T |
2: 120,013,214 (GRCm39) |
Q369K |
possibly damaging |
Het |
Ppp3cb |
A |
G |
14: 20,559,517 (GRCm39) |
I413T |
probably damaging |
Het |
Ptgis |
A |
G |
2: 167,056,726 (GRCm39) |
|
probably null |
Het |
Rasgrp1 |
A |
G |
2: 117,119,899 (GRCm39) |
V452A |
probably benign |
Het |
Rbms3 |
T |
A |
9: 116,788,606 (GRCm39) |
D105V |
probably damaging |
Het |
Rnase1 |
C |
A |
14: 51,383,260 (GRCm39) |
Q31H |
probably benign |
Het |
Rnase13 |
G |
T |
14: 52,159,760 (GRCm39) |
N126K |
probably damaging |
Het |
Sema5b |
G |
T |
16: 35,467,479 (GRCm39) |
V248L |
possibly damaging |
Het |
Serpinb12 |
G |
A |
1: 106,881,564 (GRCm39) |
|
probably null |
Het |
Slc4a11 |
A |
T |
2: 130,526,914 (GRCm39) |
L738Q |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,001,938 (GRCm39) |
I23F |
probably damaging |
Het |
Stk-ps2 |
A |
T |
1: 46,069,202 (GRCm39) |
|
noncoding transcript |
Het |
Tcp1 |
A |
G |
17: 13,141,571 (GRCm39) |
E350G |
possibly damaging |
Het |
Tonsl |
T |
C |
15: 76,518,980 (GRCm39) |
K518E |
probably damaging |
Het |
Trit1 |
A |
G |
4: 122,943,344 (GRCm39) |
S335G |
probably benign |
Het |
Usp28 |
G |
T |
9: 48,935,321 (GRCm39) |
E91* |
probably null |
Het |
Vmn2r56 |
A |
G |
7: 12,449,932 (GRCm39) |
L102P |
probably damaging |
Het |
Wwtr1 |
A |
C |
3: 57,384,938 (GRCm39) |
L203R |
possibly damaging |
Het |
Zfp110 |
T |
C |
7: 12,583,467 (GRCm39) |
V705A |
possibly damaging |
Het |
Zfp955a |
T |
C |
17: 33,462,693 (GRCm39) |
N67S |
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 |
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 |
2014-05-07 |