Incidental Mutation 'RF042:Tsen2'
| ID |
604870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsen2
|
| Ensembl Gene |
ENSMUSG00000042389 |
| Gene Name |
tRNA splicing endonuclease subunit 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
RF042 (G1)
|
| Quality Score |
213.468 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
115521652-115555297 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GGA to GGATGA
at 115537028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040234]
|
| AlphaFold |
Q6P7W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040234
|
| SMART Domains |
Protein: ENSMUSP00000038211
Gene: ENSMUSG00000042389
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOLI
|
1 |
55 |
2e-23 |
BLAST |
|
Pfam:tRNA_int_endo_N
|
258 |
324 |
9.9e-16 |
PFAM |
|
Pfam:tRNA_int_endo
|
334 |
426 |
5.2e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG |
6: 131,529,849 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
GCTGCTG |
GCTGCTGTGACTGCTG |
1: 82,891,305 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,475,245 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
AGCG |
AGCGGCG |
9: 71,631,997 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
TTT |
TTTTGTT |
11: 101,071,131 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
TTCTC |
TTC |
17: 46,851,541 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
GGGGCGGAGCACAGTTCCTACCTCGTT |
GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,415 (GRCm39) |
|
probably null |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTACT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,628 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTCC |
GGCTCCTGCTCC |
X: 71,313,653 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TGTG |
TGTGAGTG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Igkv12-89 |
G |
GCAACGCCAT |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTTCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT |
9: 106,447,804 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACAG |
CCACAGACACAG |
1: 83,019,846 (GRCm39) |
|
probably benign |
Het |
| Las1l |
CTTCCT |
CTTCCTTTTCCT |
X: 94,984,226 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
GCCCTGGCCCTGGCCCC |
GCCC |
16: 95,960,497 (GRCm39) |
|
probably null |
Het |
| Lce1m |
CACTGCTGCTGC |
CACTGCTGCTGCAACTGCTGCTGC |
3: 92,925,446 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCAACA |
GCAACAACA |
X: 70,162,418 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
A |
AGCC |
X: 70,162,459 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GAGA |
GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA |
2: 119,458,088 (GRCm39) |
|
probably null |
Het |
| Opa3 |
GCGGGC |
GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC |
7: 18,989,594 (GRCm39) |
|
probably benign |
Het |
| Pdia4 |
CTCTTCCTCCT |
C |
6: 47,785,240 (GRCm39) |
|
probably null |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
| Sbp |
AAGA |
AAGACGCTGACAACAGAGA |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
CTCGGCCCA |
CTCGGCCCAGTCGGCCCA |
5: 129,646,807 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TC |
TCATCATGATCACCATGGTCACCATGATCACTGTGGCC |
15: 76,499,071 (GRCm39) |
|
probably benign |
Het |
| Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
GC |
GCCACAGCAAC |
8: 109,682,720 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAGCA |
CAGCAGCAAAAGCAGCA |
8: 109,682,730 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tsen2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Tsen2
|
APN |
6 |
115,553,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01409:Tsen2
|
APN |
6 |
115,536,555 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02002:Tsen2
|
APN |
6 |
115,536,568 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03301:Tsen2
|
APN |
6 |
115,545,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Tsen2
|
UTSW |
6 |
115,537,030 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Tsen2
|
UTSW |
6 |
115,537,030 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Tsen2
|
UTSW |
6 |
115,537,027 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Tsen2
|
UTSW |
6 |
115,537,033 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Tsen2
|
UTSW |
6 |
115,537,029 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Tsen2
|
UTSW |
6 |
115,537,038 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Tsen2
|
UTSW |
6 |
115,537,027 (GRCm39) |
small insertion |
probably benign |
|
|
R0141:Tsen2
|
UTSW |
6 |
115,545,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1165:Tsen2
|
UTSW |
6 |
115,538,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1528:Tsen2
|
UTSW |
6 |
115,536,989 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2152:Tsen2
|
UTSW |
6 |
115,524,936 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4022:Tsen2
|
UTSW |
6 |
115,524,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4246:Tsen2
|
UTSW |
6 |
115,524,785 (GRCm39) |
splice site |
probably benign |
|
|
R4247:Tsen2
|
UTSW |
6 |
115,524,785 (GRCm39) |
splice site |
probably benign |
|
|
R4249:Tsen2
|
UTSW |
6 |
115,524,785 (GRCm39) |
splice site |
probably benign |
|
|
R4774:Tsen2
|
UTSW |
6 |
115,552,894 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5511:Tsen2
|
UTSW |
6 |
115,538,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Tsen2
|
UTSW |
6 |
115,554,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Tsen2
|
UTSW |
6 |
115,536,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6086:Tsen2
|
UTSW |
6 |
115,537,036 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6457:Tsen2
|
UTSW |
6 |
115,536,592 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6750:Tsen2
|
UTSW |
6 |
115,526,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Tsen2
|
UTSW |
6 |
115,524,933 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7438:Tsen2
|
UTSW |
6 |
115,536,943 (GRCm39) |
nonsense |
probably null |
|
|
R9254:Tsen2
|
UTSW |
6 |
115,553,864 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF030:Tsen2
|
UTSW |
6 |
115,537,028 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Tsen2
|
UTSW |
6 |
115,537,028 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Tsen2
|
UTSW |
6 |
115,537,025 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Tsen2
|
UTSW |
6 |
115,536,877 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACAGTCAGATGACCTACCC -3'
(R):5'- TCCTAACACTGCAATGAGAGC -3'
Sequencing Primer
(F):5'- GTCTCGGCACACACTCAG -3'
(R):5'- GCAATAAGGAATGTGGGCTCTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation