Incidental Mutation 'R7345:Tsen34'
| ID |
570141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsen34
|
| Ensembl Gene |
ENSMUSG00000035585 |
| Gene Name |
tRNA splicing endonuclease subunit 34 |
| Synonyms |
Leng5, 0610027F08Rik |
| MMRRC Submission |
045379-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.892)
|
| Stock # |
R7345 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3696086-3704034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3698614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 253
(Y253H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038521]
[ENSMUST00000038608]
[ENSMUST00000108627]
[ENSMUST00000108629]
[ENSMUST00000108630]
[ENSMUST00000118710]
[ENSMUST00000123088]
[ENSMUST00000127106]
[ENSMUST00000128364]
[ENSMUST00000137204]
[ENSMUST00000142713]
[ENSMUST00000155060]
[ENSMUST00000205287]
[ENSMUST00000205734]
[ENSMUST00000206343]
[ENSMUST00000206379]
[ENSMUST00000206571]
|
| AlphaFold |
Q8BMZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038521
AA Change: Y249H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046911
Gene: ENSMUSG00000035585
AA Change: Y249H
| 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 damaging
Transcript: ENSMUST00000108627
AA Change: Y253H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104267
Gene: ENSMUSG00000035585
AA Change: Y253H
| 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 damaging
Transcript: ENSMUST00000108629
AA Change: Y253H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104269
Gene: ENSMUSG00000035585
AA Change: Y253H
| 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 damaging
Transcript: ENSMUST00000108630
AA Change: Y253H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104270
Gene: ENSMUSG00000035585
AA Change: Y253H
| 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: 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: 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: 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: ENSMUST00000142713
|
| SMART Domains |
Protein: ENSMUSP00000118440
Gene: ENSMUSG00000035585
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| 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 |
probably damaging
Transcript: ENSMUST00000205287
AA Change: Y253H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205734
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206343
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206571
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks3 |
A |
G |
16: 4,773,774 (GRCm39) |
M174T |
possibly damaging |
Het |
| Arhgap23 |
G |
A |
11: 97,357,304 (GRCm39) |
R934Q |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 79,986,832 (GRCm39) |
S640P |
probably damaging |
Het |
| B3galnt2 |
C |
T |
13: 14,155,065 (GRCm39) |
|
probably null |
Het |
| B430305J03Rik |
T |
C |
3: 61,271,539 (GRCm39) |
S69G |
unknown |
Het |
| Cd163 |
A |
T |
6: 124,295,897 (GRCm39) |
N747I |
possibly damaging |
Het |
| Cep126 |
A |
G |
9: 8,099,817 (GRCm39) |
S906P |
probably damaging |
Het |
| Cimip2b |
T |
C |
4: 43,428,022 (GRCm39) |
D145G |
possibly damaging |
Het |
| Cyp4f39 |
G |
A |
17: 32,705,753 (GRCm39) |
G318R |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,059,129 (GRCm39) |
G257D |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,342,583 (GRCm39) |
L139P |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,511,895 (GRCm39) |
V840A |
probably benign |
Het |
| Dnhd1 |
A |
T |
7: 105,353,174 (GRCm39) |
I2776L |
probably benign |
Het |
| Fbxo24 |
G |
T |
5: 137,619,523 (GRCm39) |
F234L |
probably damaging |
Het |
| Gm21190 |
T |
C |
5: 15,732,902 (GRCm39) |
|
probably null |
Het |
| Grhl3 |
C |
T |
4: 135,273,557 (GRCm39) |
R565Q |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,244,842 (GRCm39) |
Y1731N |
probably damaging |
Het |
| Il1a |
C |
A |
2: 129,146,693 (GRCm39) |
R133S |
probably benign |
Het |
| Ipo4 |
C |
T |
14: 55,872,988 (GRCm39) |
R23Q |
probably benign |
Het |
| Klc3 |
G |
A |
7: 19,128,814 (GRCm39) |
T481M |
probably benign |
Het |
| Map2k6 |
A |
T |
11: 110,383,734 (GRCm39) |
I127F |
|
Het |
| Mapk8 |
A |
T |
14: 33,130,068 (GRCm39) |
N63K |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,880,825 (GRCm39) |
W1306R |
probably damaging |
Het |
| Megf6 |
C |
A |
4: 154,351,772 (GRCm39) |
Q1162K |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,841,095 (GRCm39) |
E992G |
possibly damaging |
Het |
| Ndst4 |
C |
T |
3: 125,508,308 (GRCm39) |
T291M |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,955,503 (GRCm38) |
F838L |
probably benign |
Het |
| Nrm |
A |
G |
17: 36,175,476 (GRCm39) |
H194R |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,230,613 (GRCm39) |
S1384P |
probably benign |
Het |
| Olfml2a |
C |
A |
2: 38,850,139 (GRCm39) |
D618E |
probably damaging |
Het |
| Or5p78 |
C |
T |
7: 108,212,270 (GRCm39) |
T252I |
probably benign |
Het |
| Or8g23 |
A |
G |
9: 38,971,875 (GRCm39) |
L29P |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,989,630 (GRCm39) |
S137F |
probably damaging |
Het |
| Or9s18 |
A |
C |
13: 65,300,557 (GRCm39) |
N173T |
possibly damaging |
Het |
| P2ry1 |
T |
C |
3: 60,911,095 (GRCm39) |
F78S |
possibly damaging |
Het |
| Pcdhb18 |
T |
C |
18: 37,624,976 (GRCm39) |
F769L |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,533,304 (GRCm39) |
E144G |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,451,769 (GRCm39) |
N870K |
possibly damaging |
Het |
| Polr2b |
T |
C |
5: 77,496,966 (GRCm39) |
F1159L |
possibly damaging |
Het |
| Pramel32 |
T |
C |
4: 88,546,416 (GRCm39) |
K309E |
possibly damaging |
Het |
| Rubcnl |
A |
G |
14: 75,279,793 (GRCm39) |
Y392C |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,533,129 (GRCm39) |
T539A |
probably damaging |
Het |
| Serpinh1 |
A |
C |
7: 98,995,563 (GRCm39) |
S340A |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,530,085 (GRCm39) |
|
probably null |
Het |
| Soat2 |
A |
G |
15: 102,071,013 (GRCm39) |
D469G |
probably benign |
Het |
| Speg |
T |
C |
1: 75,361,479 (GRCm39) |
L70P |
probably damaging |
Het |
| Spred2 |
T |
C |
11: 19,874,958 (GRCm39) |
|
probably null |
Het |
| Stac2 |
A |
C |
11: 97,933,439 (GRCm39) |
S168A |
probably damaging |
Het |
| Stx1a |
T |
A |
5: 135,066,042 (GRCm39) |
D31E |
probably benign |
Het |
| Timeless |
C |
T |
10: 128,085,623 (GRCm39) |
T885M |
probably damaging |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,173,966 (GRCm39) |
V1598A |
unknown |
Het |
| Zfat |
A |
T |
15: 67,976,892 (GRCm39) |
Y1086N |
probably damaging |
Het |
| Zfp551 |
G |
A |
7: 12,150,522 (GRCm39) |
H296Y |
probably benign |
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 |
|
R6266:Tsen34
|
UTSW |
7 |
3,696,984 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
PCR Primer
(F):5'- AGATCAGCCCTGCTTATCCAG -3'
(R):5'- AATGCGCTCATATGTTTTGTGCATG -3'
Sequencing Primer
(F):5'- GCTTATCCAGCTGGCCACTG -3'
(R):5'- CCTACATTAAGCCAGGTGTTGTGAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation