Incidental Mutation 'IGL01327:Tsen54'
ID |
74306 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tsen54
|
Ensembl Gene |
ENSMUSG00000020781 |
Gene Name |
tRNA splicing endonuclease subunit 54 |
Synonyms |
0610034P02Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
IGL01327
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115705550-115713920 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115712538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 119
(Y119H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021134]
[ENSMUST00000103032]
[ENSMUST00000106481]
[ENSMUST00000133250]
[ENSMUST00000136343]
[ENSMUST00000154304]
[ENSMUST00000177736]
|
AlphaFold |
Q8C2A2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021134
AA Change: Y436H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000021134 Gene: ENSMUSG00000020781 AA Change: Y436H
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
Pfam:tRNA_int_end_N2
|
63 |
130 |
1.4e-21 |
PFAM |
low complexity region
|
196 |
208 |
N/A |
INTRINSIC |
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
coiled coil region
|
338 |
360 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103032
|
SMART Domains |
Protein: ENSMUSP00000099321 Gene: ENSMUSG00000020782
Domain | Start | End | E-Value | Type |
WD40
|
24 |
60 |
9.17e1 |
SMART |
WD40
|
62 |
101 |
7.96e0 |
SMART |
Blast:WD40
|
112 |
157 |
6e-20 |
BLAST |
WD40
|
181 |
217 |
3.96e1 |
SMART |
WD40
|
221 |
258 |
5.7e1 |
SMART |
Pfam:LLGL
|
268 |
372 |
3.2e-47 |
PFAM |
WD40
|
411 |
451 |
1.38e0 |
SMART |
Blast:WD40
|
489 |
532 |
3e-12 |
BLAST |
low complexity region
|
536 |
547 |
N/A |
INTRINSIC |
Blast:WD40
|
576 |
615 |
2e-10 |
BLAST |
low complexity region
|
649 |
668 |
N/A |
INTRINSIC |
Blast:WD40
|
830 |
879 |
2e-10 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106481
AA Change: Y436H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000102090 Gene: ENSMUSG00000020781 AA Change: Y436H
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
Pfam:tRNA_int_end_N2
|
62 |
132 |
1.9e-23 |
PFAM |
low complexity region
|
196 |
208 |
N/A |
INTRINSIC |
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
coiled coil region
|
338 |
360 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128266
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133250
|
SMART Domains |
Protein: ENSMUSP00000118344 Gene: ENSMUSG00000020782
Domain | Start | End | E-Value | Type |
Blast:WD40
|
13 |
60 |
2e-20 |
BLAST |
SCOP:d1gxra_
|
19 |
118 |
5e-8 |
SMART |
Blast:WD40
|
62 |
101 |
4e-22 |
BLAST |
Blast:WD40
|
112 |
146 |
1e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136343
|
SMART Domains |
Protein: ENSMUSP00000120506 Gene: ENSMUSG00000020781
Domain | Start | End | E-Value | Type |
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
low complexity region
|
158 |
168 |
N/A |
INTRINSIC |
coiled coil region
|
182 |
204 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141748
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154304
AA Change: Y119H
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116955 Gene: ENSMUSG00000020781 AA Change: Y119H
Domain | Start | End | E-Value | Type |
coiled coil region
|
21 |
43 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000157061
AA Change: Y73H
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177736
|
SMART Domains |
Protein: ENSMUSP00000136054 Gene: ENSMUSG00000020782
Domain | Start | End | E-Value | Type |
WD40
|
24 |
60 |
5.9e-1 |
SMART |
WD40
|
62 |
101 |
5.2e-2 |
SMART |
Blast:WD40
|
112 |
157 |
6e-20 |
BLAST |
WD40
|
181 |
217 |
2.5e-1 |
SMART |
WD40
|
221 |
258 |
3.6e-1 |
SMART |
Pfam:LLGL
|
271 |
372 |
6.2e-41 |
PFAM |
WD40
|
411 |
451 |
8.8e-3 |
SMART |
Blast:WD40
|
489 |
532 |
3e-12 |
BLAST |
low complexity region
|
536 |
547 |
N/A |
INTRINSIC |
Blast:WD40
|
576 |
615 |
2e-10 |
BLAST |
low complexity region
|
649 |
668 |
N/A |
INTRINSIC |
Blast:WD40
|
854 |
903 |
2e-10 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[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 |
2510039O18Rik |
T |
A |
4: 148,029,521 (GRCm39) |
V497E |
probably damaging |
Het |
Adcy7 |
T |
G |
8: 89,045,418 (GRCm39) |
|
probably benign |
Het |
Aldh1a2 |
T |
A |
9: 71,193,248 (GRCm39) |
F486I |
possibly damaging |
Het |
Alox12 |
T |
A |
11: 70,145,375 (GRCm39) |
H66L |
probably benign |
Het |
Apoh |
T |
G |
11: 108,288,187 (GRCm39) |
Y102D |
probably damaging |
Het |
Arl9 |
T |
C |
5: 77,154,401 (GRCm39) |
V43A |
possibly damaging |
Het |
Atf6 |
A |
G |
1: 170,616,175 (GRCm39) |
|
probably null |
Het |
Atp4a |
T |
A |
7: 30,412,675 (GRCm39) |
I127N |
possibly damaging |
Het |
AY358078 |
T |
A |
14: 52,043,166 (GRCm39) |
|
probably benign |
Het |
Baat |
T |
G |
4: 49,490,338 (GRCm39) |
K249Q |
probably damaging |
Het |
Brat1 |
C |
T |
5: 140,703,963 (GRCm39) |
Q739* |
probably null |
Het |
C8g |
A |
G |
2: 25,389,089 (GRCm39) |
F165L |
probably damaging |
Het |
Cel |
T |
G |
2: 28,447,967 (GRCm39) |
D353A |
possibly damaging |
Het |
Col6a1 |
G |
T |
10: 76,546,813 (GRCm39) |
T803K |
unknown |
Het |
Cpxm1 |
A |
G |
2: 130,238,277 (GRCm39) |
L95P |
probably benign |
Het |
Ctsr |
A |
G |
13: 61,310,489 (GRCm39) |
|
probably benign |
Het |
Cyth1 |
A |
G |
11: 118,084,439 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
A |
T |
12: 110,583,126 (GRCm39) |
|
probably benign |
Het |
Ezh1 |
C |
T |
11: 101,094,262 (GRCm39) |
C407Y |
probably damaging |
Het |
Fam243 |
T |
C |
16: 92,117,661 (GRCm39) |
Y209C |
probably benign |
Het |
Gm3696 |
A |
T |
14: 18,435,903 (GRCm39) |
W38R |
probably benign |
Het |
Gm9611 |
T |
C |
14: 42,116,622 (GRCm39) |
T39A |
possibly damaging |
Het |
Gnpat |
T |
A |
8: 125,605,372 (GRCm39) |
L287H |
probably damaging |
Het |
Golm1 |
G |
T |
13: 59,792,958 (GRCm39) |
N182K |
possibly damaging |
Het |
Hdac6 |
T |
C |
X: 7,798,013 (GRCm39) |
M899V |
probably benign |
Het |
Hsf3 |
T |
A |
X: 95,358,578 (GRCm39) |
M272L |
probably benign |
Het |
Kif19a |
C |
T |
11: 114,672,625 (GRCm39) |
|
probably benign |
Het |
Lcn2 |
T |
G |
2: 32,276,030 (GRCm39) |
Y100S |
possibly damaging |
Het |
Lrrc8d |
T |
A |
5: 105,960,131 (GRCm39) |
S180R |
probably damaging |
Het |
Ly6h |
A |
G |
15: 75,436,948 (GRCm39) |
|
probably benign |
Het |
Macf1 |
T |
C |
4: 123,403,705 (GRCm39) |
N705D |
probably benign |
Het |
Mst1r |
C |
T |
9: 107,785,043 (GRCm39) |
P234S |
probably benign |
Het |
Msto1 |
T |
A |
3: 88,817,939 (GRCm39) |
|
probably null |
Het |
Myo5a |
T |
A |
9: 75,094,820 (GRCm39) |
|
probably benign |
Het |
Nipa1 |
T |
C |
7: 55,629,409 (GRCm39) |
I235V |
probably benign |
Het |
Nlgn3 |
T |
C |
X: 100,362,228 (GRCm39) |
V399A |
probably benign |
Het |
Or1d2 |
T |
A |
11: 74,255,738 (GRCm39) |
M81K |
possibly damaging |
Het |
Or2b28 |
A |
G |
13: 21,531,377 (GRCm39) |
N93S |
probably benign |
Het |
Pih1d1 |
T |
C |
7: 44,809,399 (GRCm39) |
S289P |
probably benign |
Het |
Ppl |
T |
C |
16: 4,905,508 (GRCm39) |
N1596D |
probably benign |
Het |
Psmb6 |
T |
A |
11: 70,417,412 (GRCm39) |
S114R |
possibly damaging |
Het |
Pum1 |
C |
A |
4: 130,457,854 (GRCm39) |
Q289K |
probably damaging |
Het |
Shkbp1 |
T |
C |
7: 27,054,676 (GRCm39) |
I75V |
probably benign |
Het |
Slc24a3 |
T |
A |
2: 145,444,478 (GRCm39) |
I284N |
probably benign |
Het |
Slc44a3 |
C |
T |
3: 121,320,842 (GRCm39) |
G53D |
probably damaging |
Het |
Slc9a4 |
A |
C |
1: 40,668,565 (GRCm39) |
D736A |
probably benign |
Het |
Stra6 |
A |
G |
9: 58,059,854 (GRCm39) |
D605G |
probably benign |
Het |
Tas2r126 |
T |
A |
6: 42,411,684 (GRCm39) |
H72Q |
probably benign |
Het |
Tbrg1 |
C |
T |
9: 37,564,408 (GRCm39) |
R166Q |
probably benign |
Het |
Thumpd1 |
C |
T |
7: 119,319,925 (GRCm39) |
G14R |
probably benign |
Het |
Ticrr |
C |
T |
7: 79,344,209 (GRCm39) |
T1358I |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,184,340 (GRCm39) |
N518K |
probably benign |
Het |
Trpm4 |
C |
A |
7: 44,964,497 (GRCm39) |
W533C |
probably damaging |
Het |
Tulp3 |
G |
A |
6: 128,304,597 (GRCm39) |
T219M |
probably damaging |
Het |
Usp19 |
T |
C |
9: 108,376,160 (GRCm39) |
L1000S |
possibly damaging |
Het |
Vps16 |
A |
T |
2: 130,279,616 (GRCm39) |
Y43F |
probably benign |
Het |
Vsig1 |
T |
A |
X: 139,838,429 (GRCm39) |
V283E |
possibly damaging |
Het |
|
Other mutations in Tsen54 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4486001:Tsen54
|
UTSW |
11 |
115,713,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R0179:Tsen54
|
UTSW |
11 |
115,712,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R0255:Tsen54
|
UTSW |
11 |
115,706,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R0380:Tsen54
|
UTSW |
11 |
115,713,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R0619:Tsen54
|
UTSW |
11 |
115,705,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R0653:Tsen54
|
UTSW |
11 |
115,705,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R1120:Tsen54
|
UTSW |
11 |
115,705,839 (GRCm39) |
missense |
probably damaging |
0.98 |
R2109:Tsen54
|
UTSW |
11 |
115,706,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2248:Tsen54
|
UTSW |
11 |
115,706,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R2300:Tsen54
|
UTSW |
11 |
115,712,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R3081:Tsen54
|
UTSW |
11 |
115,710,990 (GRCm39) |
missense |
probably benign |
0.08 |
R3763:Tsen54
|
UTSW |
11 |
115,711,237 (GRCm39) |
missense |
probably benign |
0.22 |
R4179:Tsen54
|
UTSW |
11 |
115,711,678 (GRCm39) |
missense |
probably damaging |
0.99 |
R4521:Tsen54
|
UTSW |
11 |
115,707,932 (GRCm39) |
critical splice donor site |
probably null |
|
R4618:Tsen54
|
UTSW |
11 |
115,706,247 (GRCm39) |
unclassified |
probably benign |
|
R5485:Tsen54
|
UTSW |
11 |
115,706,048 (GRCm39) |
missense |
probably benign |
0.15 |
R6111:Tsen54
|
UTSW |
11 |
115,710,956 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6238:Tsen54
|
UTSW |
11 |
115,711,513 (GRCm39) |
missense |
probably benign |
0.02 |
R6459:Tsen54
|
UTSW |
11 |
115,712,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R6555:Tsen54
|
UTSW |
11 |
115,711,519 (GRCm39) |
missense |
probably benign |
0.43 |
R7378:Tsen54
|
UTSW |
11 |
115,712,531 (GRCm39) |
missense |
probably benign |
0.19 |
R7520:Tsen54
|
UTSW |
11 |
115,711,797 (GRCm39) |
missense |
probably damaging |
0.99 |
R7922:Tsen54
|
UTSW |
11 |
115,711,608 (GRCm39) |
nonsense |
probably null |
|
R8110:Tsen54
|
UTSW |
11 |
115,705,760 (GRCm39) |
missense |
unknown |
|
R8159:Tsen54
|
UTSW |
11 |
115,711,804 (GRCm39) |
nonsense |
probably null |
|
R8497:Tsen54
|
UTSW |
11 |
115,713,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R8529:Tsen54
|
UTSW |
11 |
115,711,386 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8786:Tsen54
|
UTSW |
11 |
115,711,498 (GRCm39) |
missense |
probably damaging |
0.98 |
R9365:Tsen54
|
UTSW |
11 |
115,713,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R9571:Tsen54
|
UTSW |
11 |
115,707,933 (GRCm39) |
critical splice donor site |
probably null |
|
X0028:Tsen54
|
UTSW |
11 |
115,707,925 (GRCm39) |
missense |
possibly damaging |
0.50 |
Z1176:Tsen54
|
UTSW |
11 |
115,711,404 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2013-10-07 |