Incidental Mutation 'R5759:Trim34b'
ID |
445185 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim34b
|
Ensembl Gene |
ENSMUSG00000090215 |
Gene Name |
tripartite motif-containing 34B |
Synonyms |
Trim34-2, Gm15134 |
MMRRC Submission |
043361-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R5759 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
103978678-103986116 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103980640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 243
(S243P)
|
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: S243P
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102460 Gene: ENSMUSG00000090215 AA Change: S243P
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: S243P
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000136248 Gene: ENSMUSG00000090215 AA Change: S243P
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: S243P
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000136926 Gene: ENSMUSG00000090215 AA Change: S243P
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: 99.5%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,774,419 (GRCm39) |
S1203P |
probably benign |
Het |
Adamts1 |
A |
G |
16: 85,594,936 (GRCm39) |
V341A |
possibly damaging |
Het |
Arf2 |
G |
A |
11: 103,874,459 (GRCm39) |
G144S |
probably benign |
Het |
Atr |
A |
G |
9: 95,756,455 (GRCm39) |
N862D |
probably benign |
Het |
Cep295nl |
T |
C |
11: 118,224,472 (GRCm39) |
H124R |
possibly damaging |
Het |
Chd6 |
C |
T |
2: 160,825,682 (GRCm39) |
V1141I |
possibly damaging |
Het |
Chst5 |
C |
A |
8: 112,616,842 (GRCm39) |
K259N |
probably benign |
Het |
Dchs1 |
T |
A |
7: 105,413,383 (GRCm39) |
D1144V |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,282,792 (GRCm39) |
Y2795C |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,316,280 (GRCm39) |
N3131S |
probably damaging |
Het |
Dnah7c |
G |
A |
1: 46,654,527 (GRCm39) |
G1436R |
probably damaging |
Het |
Emp2 |
T |
A |
16: 10,102,374 (GRCm39) |
Y146F |
probably damaging |
Het |
Exoc6 |
C |
T |
19: 37,562,189 (GRCm39) |
Q148* |
probably null |
Het |
Fam13b |
T |
C |
18: 34,630,488 (GRCm39) |
D90G |
probably damaging |
Het |
Fam186b |
T |
G |
15: 99,177,598 (GRCm39) |
Y576S |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,857,775 (GRCm39) |
V2023A |
probably benign |
Het |
Grm5 |
A |
C |
7: 87,675,808 (GRCm39) |
M441L |
probably damaging |
Het |
Hhatl |
A |
G |
9: 121,617,343 (GRCm39) |
Y297H |
probably damaging |
Het |
Ifi30 |
A |
G |
8: 71,219,188 (GRCm39) |
|
probably benign |
Het |
Ing2 |
G |
T |
8: 48,122,040 (GRCm39) |
N169K |
possibly damaging |
Het |
Kat6a |
T |
G |
8: 23,428,028 (GRCm39) |
S1128A |
probably benign |
Het |
Madd |
T |
C |
2: 90,992,420 (GRCm39) |
E1041G |
possibly damaging |
Het |
Mcm3 |
CT |
CTT |
1: 20,878,972 (GRCm39) |
|
probably null |
Het |
Mfsd5 |
G |
A |
15: 102,189,513 (GRCm39) |
G295D |
possibly damaging |
Het |
Minar1 |
A |
T |
9: 89,483,125 (GRCm39) |
N757K |
probably benign |
Het |
Mmp20 |
T |
A |
9: 7,628,378 (GRCm39) |
|
probably null |
Het |
Mybphl |
T |
C |
3: 108,282,070 (GRCm39) |
V100A |
probably benign |
Het |
Ndfip2 |
T |
A |
14: 105,539,750 (GRCm39) |
|
probably null |
Het |
Or7e170 |
A |
G |
9: 19,795,484 (GRCm39) |
V39A |
probably benign |
Het |
Or7e175 |
T |
A |
9: 20,049,228 (GRCm39) |
V272E |
probably benign |
Het |
Or8b1c |
T |
A |
9: 38,384,831 (GRCm39) |
S263T |
possibly damaging |
Het |
Phf19 |
T |
G |
2: 34,787,135 (GRCm39) |
D443A |
probably damaging |
Het |
Piezo1 |
A |
G |
8: 123,234,394 (GRCm39) |
V84A |
probably damaging |
Het |
Septin9 |
A |
G |
11: 117,243,094 (GRCm39) |
I94V |
probably benign |
Het |
Slc35a1 |
C |
A |
4: 34,675,032 (GRCm39) |
V132L |
probably benign |
Het |
Sntg1 |
G |
A |
1: 8,484,494 (GRCm39) |
S442L |
probably benign |
Het |
Tcf25 |
A |
G |
8: 124,108,196 (GRCm39) |
T84A |
probably benign |
Het |
Tchhl1 |
C |
G |
3: 93,378,863 (GRCm39) |
S522R |
probably damaging |
Het |
Tmem106b |
A |
G |
6: 13,075,041 (GRCm39) |
E76G |
probably damaging |
Het |
Tnk2 |
C |
T |
16: 32,499,482 (GRCm39) |
P932S |
probably benign |
Het |
Trib1 |
G |
A |
15: 59,526,350 (GRCm39) |
V307I |
probably benign |
Het |
Trib3 |
A |
T |
2: 152,185,215 (GRCm39) |
D11E |
probably benign |
Het |
Vmn2r50 |
A |
G |
7: 9,781,905 (GRCm39) |
I280T |
probably damaging |
Het |
Zfp1010 |
A |
T |
2: 176,956,765 (GRCm39) |
C244* |
probably null |
Het |
Zfp445 |
G |
T |
9: 122,682,211 (GRCm39) |
Q577K |
probably benign |
Het |
Zfp599 |
T |
C |
9: 22,160,957 (GRCm39) |
K403E |
probably damaging |
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 |
R3077:Trim34b
|
UTSW |
7 |
103,980,508 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |
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'- GCTTTAATCAGCTTAGAAGAATCCTGG -3'
(R):5'- ACCCATGGCCATTATAGTCAGG -3'
Sequencing Primer
(F):5'- TCAGCTTAGAAGAATCCTGGACAAG -3'
(R):5'- TACCTTCTGCAGCCTGGGAAATG -3'
|
Posted On |
2016-11-21 |