Incidental Mutation 'R8060:Trim34a'
| ID |
619648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim34a
|
| Ensembl Gene |
ENSMUSG00000056144 |
| Gene Name |
tripartite motif-containing 34A |
| Synonyms |
Trim34-1, Trim34 |
| MMRRC Submission |
067496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R8060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103893664-103911441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103910183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Cysteine
at position 328
(W328C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055058
(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: W328C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055058
Gene: ENSMUSG00000056144
AA Change: W328C
| 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: W328C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102461
Gene: ENSMUSG00000056144
AA Change: W328C
| 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: W328C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102462
Gene: ENSMUSG00000056144
AA Change: W328C
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamdc |
A |
T |
7: 97,224,855 (GRCm39) |
Y2* |
probably null |
Het |
| Ano5 |
T |
A |
7: 51,237,531 (GRCm39) |
V785E |
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 15,004,446 (GRCm39) |
R399S |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,222,452 (GRCm39) |
|
probably benign |
Het |
| Armc3 |
G |
T |
2: 19,293,720 (GRCm39) |
V504L |
probably benign |
Het |
| Asb10 |
T |
A |
5: 24,738,833 (GRCm39) |
Y408F |
probably benign |
Het |
| Catsperb |
A |
T |
12: 101,569,025 (GRCm39) |
N899I |
probably damaging |
Het |
| Ccdc112 |
T |
C |
18: 46,426,529 (GRCm39) |
I131M |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,884,588 (GRCm39) |
S442T |
unknown |
Het |
| Cit |
G |
A |
5: 116,046,786 (GRCm39) |
V400M |
probably benign |
Het |
| Copg1 |
T |
C |
6: 87,886,703 (GRCm39) |
F772L |
probably damaging |
Het |
| Cts3 |
T |
A |
13: 61,714,580 (GRCm39) |
I242F |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,770,132 (GRCm39) |
D1797E |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,592,358 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,329,436 (GRCm39) |
K441R |
possibly damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,259 (GRCm39) |
E87G |
probably benign |
Het |
| Has2 |
T |
A |
15: 56,533,341 (GRCm39) |
M225L |
probably benign |
Het |
| Hnrnpll |
A |
G |
17: 80,341,534 (GRCm39) |
S502P |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,447,768 (GRCm39) |
F185L |
possibly damaging |
Het |
| Hoxd11 |
G |
A |
2: 74,512,720 (GRCm39) |
|
probably benign |
Het |
| Larp1b |
T |
C |
3: 40,939,837 (GRCm39) |
V330A |
|
Het |
| Mast4 |
T |
C |
13: 102,874,184 (GRCm39) |
E1728G |
possibly damaging |
Het |
| Minpp1 |
T |
A |
19: 32,471,303 (GRCm39) |
F284I |
probably damaging |
Het |
| Moxd1 |
A |
G |
10: 24,177,510 (GRCm39) |
S609G |
unknown |
Het |
| Myh1 |
A |
C |
11: 67,106,077 (GRCm39) |
M1231L |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,599,674 (GRCm39) |
E615G |
probably damaging |
Het |
| Or1e27-ps1 |
T |
C |
11: 73,555,765 (GRCm39) |
I110T |
probably benign |
Het |
| Or4c10 |
A |
T |
2: 89,760,693 (GRCm39) |
N180I |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,848 (GRCm39) |
T86A |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,612 (GRCm39) |
T3A |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,317 (GRCm39) |
Y258F |
probably damaging |
Het |
| Or6c205 |
A |
C |
10: 129,086,915 (GRCm39) |
T171P |
possibly damaging |
Het |
| Pln |
A |
T |
10: 53,219,993 (GRCm39) |
I12F |
unknown |
Het |
| Pomt2 |
G |
A |
12: 87,175,780 (GRCm39) |
A388V |
probably damaging |
Het |
| Rbl2 |
T |
A |
8: 91,823,497 (GRCm39) |
|
probably null |
Het |
| Rnpep |
T |
C |
1: 135,194,658 (GRCm39) |
Y459C |
probably damaging |
Het |
| Slc23a4 |
T |
C |
6: 34,925,336 (GRCm39) |
T498A |
probably damaging |
Het |
| Slc2a4 |
A |
T |
11: 69,835,836 (GRCm39) |
L338M |
possibly damaging |
Het |
| Smco2 |
C |
A |
6: 146,768,283 (GRCm39) |
Q221K |
probably benign |
Het |
| Snx20 |
G |
T |
8: 89,354,273 (GRCm39) |
C152* |
probably null |
Het |
| Spata16 |
T |
C |
3: 26,894,869 (GRCm39) |
L306P |
probably damaging |
Het |
| Spata20 |
A |
T |
11: 94,373,065 (GRCm39) |
F520L |
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,051,616 (GRCm39) |
D2290E |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,117,505 (GRCm39) |
T250I |
probably benign |
Het |
| Trim42 |
T |
G |
9: 97,245,532 (GRCm39) |
M423L |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,954,875 (GRCm39) |
K1055E |
probably damaging |
Het |
| Trpv5 |
T |
A |
6: 41,651,465 (GRCm39) |
K238* |
probably null |
Het |
| Tshr |
A |
C |
12: 91,505,134 (GRCm39) |
I691L |
probably benign |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,058,124 (GRCm39) |
H560L |
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 |
|
|
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 |
|
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'- CCAGTGTTGGCTTTTCACAG -3'
(R):5'- ACTTCGATCCATGCTGTAACCC -3'
Sequencing Primer
(F):5'- GGCTTTTCACAGTGTTTCACAAAC -3'
(R):5'- ATAACCCAGTAGCCATTCTGTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation