Incidental Mutation 'R3077:Trim34b'
| ID |
265254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim34b
|
| Ensembl Gene |
ENSMUSG00000090215 |
| Gene Name |
tripartite motif-containing 34B |
| Synonyms |
Trim34-2, Gm15134 |
| MMRRC Submission |
040567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R3077 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103978678-103986116 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103980508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 199
(R199G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106847]
[ENSMUST00000180136]
|
| AlphaFold |
J3QNR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106847
AA Change: R199G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102460
Gene: ENSMUSG00000090215
AA Change: R199G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
7.8e-7 |
SMART |
|
ZnF_RBZ
|
31 |
61 |
5.96e-1 |
SMART |
|
BBOX
|
91 |
132 |
2.15e-9 |
SMART |
|
low complexity region
|
195 |
209 |
N/A |
INTRINSIC |
|
Blast:PRY
|
299 |
343 |
3e-21 |
BLAST |
|
Pfam:SPRY
|
347 |
474 |
7.8e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178316
AA Change: R199G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136248
Gene: ENSMUSG00000090215
AA Change: R199G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
7.8e-7 |
SMART |
|
ZnF_RBZ
|
31 |
61 |
5.96e-1 |
SMART |
|
BBOX
|
91 |
132 |
2.15e-9 |
SMART |
|
low complexity region
|
195 |
209 |
N/A |
INTRINSIC |
|
Blast:PRY
|
299 |
343 |
3e-21 |
BLAST |
|
Pfam:SPRY
|
345 |
484 |
3e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180136
AA Change: R199G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136926
Gene: ENSMUSG00000090215
AA Change: R199G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
7.8e-7 |
SMART |
|
ZnF_RBZ
|
31 |
61 |
5.96e-1 |
SMART |
|
BBOX
|
91 |
132 |
2.15e-9 |
SMART |
|
low complexity region
|
195 |
209 |
N/A |
INTRINSIC |
|
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
|
Pfam:SPRY
|
345 |
484 |
3e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Cabcoco1 |
T |
G |
10: 68,361,475 (GRCm39) |
Y8S |
possibly damaging |
Het |
| Champ1 |
T |
C |
8: 13,928,832 (GRCm39) |
V330A |
probably benign |
Het |
| Dnajc8 |
A |
G |
4: 132,271,974 (GRCm39) |
D70G |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or51a7 |
G |
T |
7: 102,615,223 (GRCm39) |
K305N |
probably benign |
Het |
| Pcdhb11 |
C |
T |
18: 37,555,297 (GRCm39) |
T209I |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,293,588 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
A |
G |
4: 132,125,307 (GRCm39) |
M1T |
probably null |
Het |
| Pwwp2a |
A |
G |
11: 43,596,212 (GRCm39) |
N184S |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,046,157 (GRCm39) |
V958A |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,616,322 (GRCm39) |
E449G |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,720,907 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Unc45a |
A |
C |
7: 79,988,680 (GRCm39) |
V112G |
probably damaging |
Het |
| Vwa8 |
A |
T |
14: 79,335,782 (GRCm39) |
N1413Y |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,954,101 (GRCm39) |
N51K |
probably benign |
Het |
| Zfp628 |
A |
G |
7: 4,924,199 (GRCm39) |
E807G |
possibly damaging |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Trim34b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00975:Trim34b
|
APN |
7 |
103,978,859 (GRCm39) |
nonsense |
probably null |
|
|
IGL01103:Trim34b
|
APN |
7 |
103,979,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02252:Trim34b
|
APN |
7 |
103,979,139 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03241:Trim34b
|
APN |
7 |
103,983,820 (GRCm39) |
intron |
probably benign |
|
|
R0032:Trim34b
|
UTSW |
7 |
103,985,784 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0381:Trim34b
|
UTSW |
7 |
103,979,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2403:Trim34b
|
UTSW |
7 |
103,978,876 (GRCm39) |
missense |
probably benign |
|
|
R2520:Trim34b
|
UTSW |
7 |
103,980,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2857:Trim34b
|
UTSW |
7 |
103,985,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2859:Trim34b
|
UTSW |
7 |
103,985,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4094:Trim34b
|
UTSW |
7 |
103,983,795 (GRCm39) |
missense |
probably benign |
|
|
R4449:Trim34b
|
UTSW |
7 |
103,984,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5183:Trim34b
|
UTSW |
7 |
103,979,118 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5700:Trim34b
|
UTSW |
7 |
103,985,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5759:Trim34b
|
UTSW |
7 |
103,980,640 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6236:Trim34b
|
UTSW |
7 |
103,985,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6364:Trim34b
|
UTSW |
7 |
103,985,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7034:Trim34b
|
UTSW |
7 |
103,978,743 (GRCm39) |
start gained |
probably benign |
|
|
R7036:Trim34b
|
UTSW |
7 |
103,978,743 (GRCm39) |
start gained |
probably benign |
|
|
R7237:Trim34b
|
UTSW |
7 |
103,978,794 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7392:Trim34b
|
UTSW |
7 |
103,985,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7405:Trim34b
|
UTSW |
7 |
103,985,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Trim34b
|
UTSW |
7 |
103,978,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7646:Trim34b
|
UTSW |
7 |
103,984,559 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7909:Trim34b
|
UTSW |
7 |
103,979,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8396:Trim34b
|
UTSW |
7 |
103,979,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8472:Trim34b
|
UTSW |
7 |
103,980,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8806:Trim34b
|
UTSW |
7 |
103,985,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9476:Trim34b
|
UTSW |
7 |
103,980,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Trim34b
|
UTSW |
7 |
103,980,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9645:Trim34b
|
UTSW |
7 |
103,980,474 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Trim34b
|
UTSW |
7 |
103,984,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Trim34b
|
UTSW |
7 |
103,980,560 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGAATAGCATCCTCAACTTGC -3'
(R):5'- AACATGTCTCTGCACCCTG -3'
Sequencing Primer
(F):5'- AGCATCCTCAACTTGCTGTTATATTC -3'
(R):5'- CTCTGCACCCTGGGGCG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation