Incidental Mutation 'R6266:Tsen34'
ID |
507002 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsen34
|
Ensembl Gene |
ENSMUSG00000035585 |
Gene Name |
tRNA splicing endonuclease subunit 34 |
Synonyms |
Leng5, 0610027F08Rik |
MMRRC Submission |
044378-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.858)
|
Stock # |
R6266 (G1)
|
Quality Score |
126.008 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3696086-3704034 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 3696984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038521]
[ENSMUST00000038608]
[ENSMUST00000108627]
[ENSMUST00000108629]
[ENSMUST00000108630]
[ENSMUST00000118710]
[ENSMUST00000142713]
[ENSMUST00000127106]
[ENSMUST00000128364]
[ENSMUST00000123088]
[ENSMUST00000155060]
[ENSMUST00000137204]
[ENSMUST00000205287]
[ENSMUST00000206379]
[ENSMUST00000206343]
[ENSMUST00000205734]
[ENSMUST00000206571]
|
AlphaFold |
Q8BMZ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038521
|
SMART Domains |
Protein: ENSMUSP00000046911 Gene: ENSMUSG00000035585
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
Pfam:tRNA_int_endo
|
219 |
303 |
2.9e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000038608
|
SMART Domains |
Protein: ENSMUSP00000037107 Gene: ENSMUSG00000035596
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
Pfam:MBOAT
|
57 |
420 |
2.4e-37 |
PFAM |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108627
|
SMART Domains |
Protein: ENSMUSP00000104267 Gene: ENSMUSG00000035585
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
Pfam:tRNA_int_endo
|
223 |
307 |
4.8e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108629
|
SMART Domains |
Protein: ENSMUSP00000104269 Gene: ENSMUSG00000035585
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
Pfam:tRNA_int_endo
|
223 |
256 |
3.7e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108630
|
SMART Domains |
Protein: ENSMUSP00000104270 Gene: ENSMUSG00000035585
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
Pfam:tRNA_int_endo
|
223 |
307 |
7.9e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118710
|
SMART Domains |
Protein: ENSMUSP00000112710 Gene: ENSMUSG00000035596
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
Pfam:MBOAT
|
86 |
343 |
1.5e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142713
|
SMART Domains |
Protein: ENSMUSP00000118440 Gene: ENSMUSG00000035585
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127106
|
SMART Domains |
Protein: ENSMUSP00000116446 Gene: ENSMUSG00000035596
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128364
|
SMART Domains |
Protein: ENSMUSP00000120521 Gene: ENSMUSG00000035596
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
low complexity region
|
58 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123088
|
SMART Domains |
Protein: ENSMUSP00000123614 Gene: ENSMUSG00000035585
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155060
|
SMART Domains |
Protein: ENSMUSP00000118816 Gene: ENSMUSG00000035585
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150684
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139396
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137204
|
SMART Domains |
Protein: ENSMUSP00000120403 Gene: ENSMUSG00000035585
Domain | Start | End | E-Value | Type |
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147288
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205287
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131688
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150785
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206379
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206448
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205644
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205734
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206571
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
T |
C |
13: 4,320,206 (GRCm39) |
T295A |
probably benign |
Het |
Aldh2 |
C |
A |
5: 121,706,997 (GRCm39) |
V217L |
probably damaging |
Het |
Arap3 |
G |
A |
18: 38,123,844 (GRCm39) |
R392C |
probably damaging |
Het |
Aurkaip1 |
T |
G |
4: 155,916,977 (GRCm39) |
L75R |
probably damaging |
Het |
Blm |
C |
A |
7: 80,149,688 (GRCm39) |
K640N |
probably benign |
Het |
Brap |
A |
T |
5: 121,823,328 (GRCm39) |
T487S |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,601,632 (GRCm39) |
P276L |
probably damaging |
Het |
Cdc42bpg |
A |
G |
19: 6,361,503 (GRCm39) |
E343G |
probably damaging |
Het |
Cecr2 |
A |
G |
6: 120,738,647 (GRCm39) |
S1097G |
probably benign |
Het |
D7Ertd443e |
A |
T |
7: 133,951,514 (GRCm39) |
V53D |
probably damaging |
Het |
Ddx3y |
G |
A |
Y: 1,266,635 (GRCm39) |
T274I |
probably damaging |
Homo |
Dnah5 |
T |
A |
15: 28,335,773 (GRCm39) |
F2246L |
possibly damaging |
Het |
Dock3 |
T |
A |
9: 106,841,952 (GRCm39) |
H959L |
probably damaging |
Het |
Dpy19l1 |
A |
G |
9: 24,350,442 (GRCm39) |
S406P |
probably damaging |
Het |
Efcab8 |
T |
C |
2: 153,625,688 (GRCm39) |
L116P |
probably damaging |
Het |
Efnb2 |
T |
C |
8: 8,710,524 (GRCm39) |
I31V |
probably benign |
Het |
Fbxl12 |
A |
T |
9: 20,549,911 (GRCm39) |
L271Q |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,426,683 (GRCm39) |
N1133K |
probably damaging |
Het |
Frmpd2 |
T |
C |
14: 33,287,864 (GRCm39) |
S1219P |
probably benign |
Het |
Gm7298 |
A |
T |
6: 121,759,663 (GRCm39) |
R1187S |
probably damaging |
Het |
H6pd |
T |
C |
4: 150,080,414 (GRCm39) |
I136V |
probably benign |
Het |
Hyal2 |
A |
G |
9: 107,447,914 (GRCm39) |
N189S |
probably benign |
Het |
Jmjd1c |
C |
T |
10: 67,085,439 (GRCm39) |
P2410S |
probably damaging |
Het |
Larp1 |
A |
G |
11: 57,933,089 (GRCm39) |
D231G |
probably damaging |
Het |
Lilra5 |
T |
A |
7: 4,244,927 (GRCm39) |
S233T |
possibly damaging |
Het |
Lrrc43 |
T |
C |
5: 123,641,340 (GRCm39) |
F508S |
probably damaging |
Het |
Marchf4 |
T |
C |
1: 72,491,647 (GRCm39) |
Y208C |
probably damaging |
Het |
Mtarc2 |
T |
C |
1: 184,566,140 (GRCm39) |
R85G |
probably damaging |
Het |
Nr1h2 |
A |
T |
7: 44,201,476 (GRCm39) |
C45* |
probably null |
Het |
Or10ag2 |
T |
A |
2: 87,249,350 (GRCm39) |
S319R |
probably benign |
Het |
Or2n1e |
A |
G |
17: 38,586,039 (GRCm39) |
I126V |
probably benign |
Het |
Ppp2r5d |
G |
T |
17: 46,996,629 (GRCm39) |
|
probably null |
Het |
Prpf40a |
A |
T |
2: 53,046,639 (GRCm39) |
S324T |
probably benign |
Het |
Psmb7 |
T |
C |
2: 38,530,199 (GRCm39) |
D94G |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,336,767 (GRCm39) |
T140A |
probably benign |
Het |
Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
Rbp3 |
G |
A |
14: 33,676,418 (GRCm39) |
R122H |
probably benign |
Het |
Relch |
T |
G |
1: 105,659,007 (GRCm39) |
|
probably null |
Het |
Rrp8 |
T |
C |
7: 105,385,596 (GRCm39) |
E3G |
probably damaging |
Het |
Sacm1l |
T |
C |
9: 123,371,485 (GRCm39) |
S37P |
probably damaging |
Het |
Slc12a3 |
A |
G |
8: 95,085,099 (GRCm39) |
R939G |
possibly damaging |
Het |
Slc20a1 |
T |
C |
2: 129,051,814 (GRCm39) |
S608P |
possibly damaging |
Het |
Sntg1 |
T |
C |
1: 8,624,953 (GRCm39) |
Q281R |
possibly damaging |
Het |
Spata31d1e |
C |
T |
13: 59,890,126 (GRCm39) |
V147I |
probably benign |
Het |
Tefm |
A |
G |
11: 80,028,814 (GRCm39) |
L194P |
probably damaging |
Het |
Terf2ip |
T |
A |
8: 112,738,547 (GRCm39) |
V145E |
probably damaging |
Het |
Tmem231 |
T |
A |
8: 112,641,897 (GRCm39) |
E219V |
probably null |
Het |
Tmx3 |
T |
A |
18: 90,555,334 (GRCm39) |
|
probably null |
Het |
Tns3 |
G |
A |
11: 8,442,987 (GRCm39) |
P459S |
probably damaging |
Het |
Trav13d-1 |
T |
A |
14: 53,089,220 (GRCm39) |
S76R |
probably benign |
Het |
Trp63 |
A |
G |
16: 25,681,210 (GRCm39) |
N254S |
probably damaging |
Het |
Unc13d |
A |
G |
11: 115,959,064 (GRCm39) |
V701A |
probably damaging |
Het |
Usp36 |
A |
G |
11: 118,159,411 (GRCm39) |
S513P |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,141,176 (GRCm39) |
S392T |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,899,007 (GRCm39) |
C450S |
probably benign |
Het |
Zfp128 |
T |
C |
7: 12,624,897 (GRCm39) |
Y422H |
possibly damaging |
Het |
Zkscan7 |
C |
T |
9: 122,724,299 (GRCm39) |
Q423* |
probably null |
Het |
|
Other mutations in Tsen34 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Tsen34
|
APN |
7 |
3,703,530 (GRCm39) |
makesense |
probably null |
|
R1612:Tsen34
|
UTSW |
7 |
3,698,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R2441:Tsen34
|
UTSW |
7 |
3,697,994 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4455:Tsen34
|
UTSW |
7 |
3,698,097 (GRCm39) |
splice site |
probably null |
|
R4702:Tsen34
|
UTSW |
7 |
3,703,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R4870:Tsen34
|
UTSW |
7 |
3,697,380 (GRCm39) |
unclassified |
probably benign |
|
R5950:Tsen34
|
UTSW |
7 |
3,697,787 (GRCm39) |
missense |
probably null |
0.97 |
R6221:Tsen34
|
UTSW |
7 |
3,698,543 (GRCm39) |
missense |
probably damaging |
0.99 |
R7121:Tsen34
|
UTSW |
7 |
3,697,986 (GRCm39) |
missense |
probably benign |
0.18 |
R7134:Tsen34
|
UTSW |
7 |
3,703,640 (GRCm39) |
missense |
probably damaging |
0.98 |
R7190:Tsen34
|
UTSW |
7 |
3,697,806 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7345:Tsen34
|
UTSW |
7 |
3,698,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Tsen34
|
UTSW |
7 |
3,698,834 (GRCm39) |
critical splice donor site |
probably null |
|
R7743:Tsen34
|
UTSW |
7 |
3,697,601 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7887:Tsen34
|
UTSW |
7 |
3,697,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R8723:Tsen34
|
UTSW |
7 |
3,698,149 (GRCm39) |
missense |
probably benign |
0.00 |
R8916:Tsen34
|
UTSW |
7 |
3,697,340 (GRCm39) |
unclassified |
probably benign |
|
RF020:Tsen34
|
UTSW |
7 |
3,698,795 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
|
Posted On |
2018-03-15 |