Incidental Mutation 'R1477:Trim34a'
| ID |
164128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim34a
|
| Ensembl Gene |
ENSMUSG00000056144 |
| Gene Name |
tripartite motif-containing 34A |
| Synonyms |
Trim34-1, Trim34 |
| MMRRC Submission |
039530-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R1477 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103893664-103911441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103897287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 117
(V117D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060315]
[ENSMUST00000106848]
[ENSMUST00000106849]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060315
AA Change: V117D
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000055058
Gene: ENSMUSG00000056144
AA Change: V117D
| 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 |
possibly damaging
Transcript: ENSMUST00000106848
AA Change: V117D
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102461
Gene: ENSMUSG00000056144
AA Change: V117D
| 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: V117D
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102462
Gene: ENSMUSG00000056144
AA Change: V117D
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
A |
C |
19: 55,279,904 (GRCm39) |
D481A |
probably benign |
Het |
| Adam2 |
A |
C |
14: 66,315,149 (GRCm39) |
L8R |
possibly damaging |
Het |
| Ajm1 |
G |
C |
2: 25,469,765 (GRCm39) |
H49D |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,259,509 (GRCm39) |
C619S |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,375,573 (GRCm39) |
I2082T |
probably benign |
Het |
| Cgrrf1 |
A |
G |
14: 47,090,895 (GRCm39) |
I210M |
probably benign |
Het |
| Clec2e |
A |
T |
6: 129,072,163 (GRCm39) |
V72E |
probably benign |
Het |
| Cmtr1 |
T |
C |
17: 29,916,131 (GRCm39) |
V587A |
possibly damaging |
Het |
| Col1a2 |
T |
C |
6: 4,539,673 (GRCm39) |
F1314L |
unknown |
Het |
| Ctbp2 |
T |
C |
7: 132,600,670 (GRCm39) |
E618G |
probably damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,104 (GRCm39) |
V29M |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,072,914 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Ezh1 |
A |
T |
11: 101,083,810 (GRCm39) |
D733E |
probably damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,934 (GRCm39) |
S202P |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,856,518 (GRCm39) |
Q2102K |
probably benign |
Het |
| Grid2ip |
G |
A |
5: 143,361,340 (GRCm39) |
A191T |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,874,597 (GRCm39) |
S1966G |
probably benign |
Het |
| Ipmk |
A |
G |
10: 71,217,607 (GRCm39) |
K385E |
probably damaging |
Het |
| Itga11 |
G |
A |
9: 62,662,493 (GRCm39) |
V489I |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,784,727 (GRCm39) |
K137R |
probably benign |
Het |
| Meis1 |
G |
A |
11: 18,831,665 (GRCm39) |
Q458* |
probably null |
Het |
| Mst1r |
T |
C |
9: 107,785,523 (GRCm39) |
S394P |
probably benign |
Het |
| Mus81 |
G |
T |
19: 5,536,362 (GRCm39) |
H155Q |
probably benign |
Het |
| Neb |
G |
A |
2: 52,154,134 (GRCm39) |
L2326F |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,286,685 (GRCm39) |
Q162* |
probably null |
Het |
| Nin |
T |
C |
12: 70,090,958 (GRCm39) |
E819G |
possibly damaging |
Het |
| Nox4 |
T |
C |
7: 86,945,074 (GRCm39) |
V79A |
probably benign |
Het |
| Or11g2 |
A |
T |
14: 50,856,170 (GRCm39) |
I164F |
probably damaging |
Het |
| Or13a28 |
T |
A |
7: 140,218,355 (GRCm39) |
I247N |
possibly damaging |
Het |
| Or5ae2 |
T |
A |
7: 84,506,225 (GRCm39) |
I216N |
probably damaging |
Het |
| Or6d12 |
A |
T |
6: 116,493,626 (GRCm39) |
Y296F |
probably damaging |
Het |
| Peg3 |
T |
A |
7: 6,719,141 (GRCm39) |
D69V |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 51,196,992 (GRCm39) |
E26G |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,087,102 (GRCm39) |
C154S |
probably benign |
Het |
| Ppp1r26 |
C |
T |
2: 28,342,800 (GRCm39) |
T810I |
probably benign |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,257 (GRCm39) |
S349P |
probably benign |
Het |
| Prdm4 |
C |
T |
10: 85,740,129 (GRCm39) |
V424I |
probably benign |
Het |
| Rraga |
A |
G |
4: 86,494,996 (GRCm39) |
I281V |
probably benign |
Het |
| Sall1 |
T |
C |
8: 89,759,510 (GRCm39) |
E198G |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,963,362 (GRCm39) |
D382G |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,095,260 (GRCm39) |
V257A |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,925,568 (GRCm39) |
Y225N |
possibly damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,202 (GRCm39) |
L41P |
probably damaging |
Het |
| Trappc12 |
A |
T |
12: 28,787,751 (GRCm39) |
V444E |
probably benign |
Het |
| Ttbk1 |
A |
C |
17: 46,787,725 (GRCm39) |
M259R |
probably benign |
Het |
| Ttll12 |
A |
G |
15: 83,464,303 (GRCm39) |
V509A |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,581,273 (GRCm39) |
V3718M |
probably benign |
Het |
| Vps35 |
T |
A |
8: 86,014,429 (GRCm39) |
E73D |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,522,525 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGTATGCCAAGCCTGTCTCATC -3'
(R):5'- GCGTTAGGAACCCAGTGGTAATGTG -3'
Sequencing Primer
(F):5'- TGTCTCATCACGAAGAAGAATGC -3'
(R):5'- CCCAGTGGTAATGTGAATCAAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation