Incidental Mutation 'R3685:Trim34a'
| ID |
269501 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3685 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103893664-103911441 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3260 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 103909333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060315]
[ENSMUST00000098179]
[ENSMUST00000106848]
[ENSMUST00000106849]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060315
AA Change: I260T
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000055058
Gene: ENSMUSG00000056144
AA Change: I260T
| 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 null
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: I260T
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102461
Gene: ENSMUSG00000056144
AA Change: I260T
| 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: I260T
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102462
Gene: ENSMUSG00000056144
AA Change: I260T
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Atp13a5 |
G |
C |
16: 29,135,573 (GRCm39) |
L340V |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,775,223 (GRCm39) |
M343T |
possibly damaging |
Het |
| Dmrtc2 |
T |
C |
7: 24,573,687 (GRCm39) |
V174A |
probably benign |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gm9637 |
A |
G |
14: 19,401,950 (GRCm38) |
|
noncoding transcript |
Het |
| Gpbp1 |
T |
C |
13: 111,603,405 (GRCm39) |
T15A |
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Klhl40 |
A |
G |
9: 121,611,724 (GRCm39) |
E579G |
probably damaging |
Het |
| Or4a73 |
C |
A |
2: 89,421,099 (GRCm39) |
R120L |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,975,364 (GRCm39) |
M1K |
probably null |
Het |
| Or5d37 |
T |
A |
2: 87,923,603 (GRCm39) |
I226F |
probably damaging |
Het |
| Prr16 |
C |
A |
18: 51,435,892 (GRCm39) |
P124T |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,535 (GRCm39) |
T106A |
possibly damaging |
Het |
| Slc37a1 |
C |
A |
17: 31,544,667 (GRCm39) |
T253N |
probably benign |
Het |
| Smpd1 |
T |
A |
7: 105,204,609 (GRCm39) |
C163S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,226,800 (GRCm39) |
S1162G |
probably benign |
Het |
| Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
| Zfand6 |
G |
A |
7: 84,283,570 (GRCm39) |
P11S |
probably 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 |
|
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'- GGAACATTTCACAGAGCCCTG -3'
(R):5'- TTAAAGGTCCTCTCTGGTAAGC -3'
Sequencing Primer
(F):5'- CTGTGGCTTCTGATTCACAGTCAG -3'
(R):5'- AGAACACTTTAGGGTGCTCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation