Incidental Mutation 'IGL01729:Themis'
ID |
105417 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Themis
|
Ensembl Gene |
ENSMUSG00000049109 |
Gene Name |
thymocyte selection associated |
Synonyms |
Tsepa, Gasp, E430004N04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
IGL01729
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 28637587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 230
(Y230*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101155
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000060409]
[ENSMUST00000105516]
[ENSMUST00000159927]
[ENSMUST00000161345]
|
AlphaFold |
Q8BGW0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000056097
AA Change: Y230*
|
SMART Domains |
Protein: ENSMUSP00000060129 Gene: ENSMUSG00000049109 AA Change: Y230*
Domain | Start | End | E-Value | Type |
Pfam:CABIT
|
17 |
266 |
5.2e-59 |
PFAM |
Pfam:CABIT
|
282 |
530 |
3.7e-48 |
PFAM |
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000060409
AA Change: Y230*
|
SMART Domains |
Protein: ENSMUSP00000055315 Gene: ENSMUSG00000049109 AA Change: Y230*
Domain | Start | End | E-Value | Type |
Pfam:CABIT
|
17 |
272 |
9.3e-52 |
PFAM |
Pfam:CABIT
|
282 |
532 |
5e-62 |
PFAM |
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000105516
AA Change: Y230*
|
SMART Domains |
Protein: ENSMUSP00000101155 Gene: ENSMUSG00000049109 AA Change: Y230*
Domain | Start | End | E-Value | Type |
Pfam:CABIT
|
17 |
272 |
9e-52 |
PFAM |
Pfam:CABIT
|
282 |
532 |
4.9e-62 |
PFAM |
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159927
|
SMART Domains |
Protein: ENSMUSP00000123919 Gene: ENSMUSG00000049109
Domain | Start | End | E-Value | Type |
Pfam:CABIT
|
17 |
91 |
1.9e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161345
|
SMART Domains |
Protein: ENSMUSP00000123894 Gene: ENSMUSG00000049109
Domain | Start | End | E-Value | Type |
Pfam:CABIT
|
17 |
86 |
1.9e-9 |
PFAM |
Pfam:CABIT
|
129 |
203 |
5.1e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162343
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and maturation of T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015] PHENOTYPE: Homozygous null mice have defects in T cell positive selection that leads to very few alpha-beta T cells being found in the periphery. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
A |
G |
15: 83,112,526 (GRCm39) |
F86L |
probably damaging |
Het |
Acer3 |
A |
G |
7: 97,866,072 (GRCm39) |
V217A |
probably benign |
Het |
Adcy10 |
T |
C |
1: 165,340,737 (GRCm39) |
|
probably null |
Het |
Adcy8 |
C |
T |
15: 64,678,511 (GRCm39) |
V481I |
probably damaging |
Het |
Ano3 |
C |
T |
2: 110,611,739 (GRCm39) |
|
probably null |
Het |
Arhgap23 |
C |
T |
11: 97,344,787 (GRCm39) |
T583I |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,057,106 (GRCm39) |
L173P |
probably damaging |
Het |
Clgn |
T |
C |
8: 84,124,279 (GRCm39) |
W74R |
probably damaging |
Het |
Clstn3 |
T |
C |
6: 124,426,753 (GRCm39) |
S523G |
probably benign |
Het |
Dnah10 |
A |
C |
5: 124,864,529 (GRCm39) |
K2245Q |
probably benign |
Het |
Dsg1b |
G |
T |
18: 20,538,295 (GRCm39) |
V634L |
possibly damaging |
Het |
Dzip3 |
A |
T |
16: 48,748,726 (GRCm39) |
V864E |
possibly damaging |
Het |
Ear2 |
A |
T |
14: 44,340,701 (GRCm39) |
R120* |
probably null |
Het |
Fam171b |
T |
C |
2: 83,685,881 (GRCm39) |
|
probably benign |
Het |
Fam186b |
G |
A |
15: 99,178,132 (GRCm39) |
S398L |
probably benign |
Het |
Gabrp |
T |
C |
11: 33,502,689 (GRCm39) |
K392E |
probably damaging |
Het |
Gm10355 |
G |
A |
3: 101,213,999 (GRCm39) |
|
noncoding transcript |
Het |
Gm3424 |
T |
C |
14: 17,337,188 (GRCm39) |
Y90C |
probably damaging |
Het |
Gm8165 |
A |
G |
14: 43,910,186 (GRCm39) |
V212A |
unknown |
Het |
Grm7 |
G |
A |
6: 111,223,145 (GRCm39) |
R395Q |
probably benign |
Het |
Il1r1 |
T |
A |
1: 40,333,986 (GRCm39) |
N185K |
probably damaging |
Het |
Jam3 |
A |
G |
9: 27,016,821 (GRCm39) |
F80L |
probably damaging |
Het |
Map1s |
T |
C |
8: 71,365,712 (GRCm39) |
Y206H |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,561,402 (GRCm39) |
Y614H |
possibly damaging |
Het |
Ntmt2 |
T |
A |
1: 163,552,572 (GRCm39) |
D18V |
probably damaging |
Het |
Pate2 |
T |
C |
9: 35,581,888 (GRCm39) |
Y61H |
probably damaging |
Het |
Prox1 |
T |
A |
1: 189,893,372 (GRCm39) |
T358S |
probably benign |
Het |
Prpf6 |
T |
A |
2: 181,296,710 (GRCm39) |
D876E |
probably damaging |
Het |
Rpf1 |
G |
A |
3: 146,212,904 (GRCm39) |
R311C |
probably damaging |
Het |
Rpusd2 |
T |
A |
2: 118,865,837 (GRCm39) |
V178D |
probably damaging |
Het |
Stx2 |
A |
G |
5: 129,068,042 (GRCm39) |
F222L |
probably benign |
Het |
Tmem132e |
T |
C |
11: 82,325,942 (GRCm39) |
L314P |
possibly damaging |
Het |
Tmtc3 |
T |
C |
10: 100,283,017 (GRCm39) |
E846G |
probably benign |
Het |
Trem1 |
T |
C |
17: 48,551,603 (GRCm39) |
V88A |
possibly damaging |
Het |
Trim21 |
G |
A |
7: 102,213,100 (GRCm39) |
A66V |
probably damaging |
Het |
Trip4 |
A |
C |
9: 65,782,174 (GRCm39) |
V186G |
probably benign |
Het |
Vps9d1 |
T |
C |
8: 123,973,739 (GRCm39) |
E348G |
probably damaging |
Het |
Xrn2 |
T |
C |
2: 146,878,717 (GRCm39) |
|
probably null |
Het |
Zfp36 |
A |
G |
7: 28,077,888 (GRCm39) |
S7P |
probably damaging |
Het |
|
Other mutations in Themis |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01609:Themis
|
APN |
10 |
28,544,749 (GRCm39) |
splice site |
probably benign |
|
IGL01833:Themis
|
APN |
10 |
28,658,307 (GRCm39) |
nonsense |
probably null |
|
IGL02582:Themis
|
APN |
10 |
28,637,543 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02835:Themis
|
APN |
10 |
28,637,616 (GRCm39) |
intron |
probably benign |
|
cloudies
|
UTSW |
10 |
28,637,195 (GRCm39) |
nonsense |
probably null |
|
currant
|
UTSW |
10 |
28,658,007 (GRCm39) |
missense |
probably damaging |
1.00 |
death_valley
|
UTSW |
10 |
28,544,723 (GRCm39) |
missense |
probably damaging |
1.00 |
Meteor
|
UTSW |
10 |
28,657,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
six_flags
|
UTSW |
10 |
28,657,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R0445:Themis
|
UTSW |
10 |
28,658,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R0507:Themis
|
UTSW |
10 |
28,657,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0709:Themis
|
UTSW |
10 |
28,637,570 (GRCm39) |
missense |
probably benign |
0.00 |
R1170:Themis
|
UTSW |
10 |
28,544,744 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1442:Themis
|
UTSW |
10 |
28,658,131 (GRCm39) |
missense |
probably damaging |
0.96 |
R1844:Themis
|
UTSW |
10 |
28,657,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R2004:Themis
|
UTSW |
10 |
28,658,720 (GRCm39) |
missense |
probably benign |
0.28 |
R2150:Themis
|
UTSW |
10 |
28,544,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R2358:Themis
|
UTSW |
10 |
28,739,376 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4529:Themis
|
UTSW |
10 |
28,658,331 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4693:Themis
|
UTSW |
10 |
28,658,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R4717:Themis
|
UTSW |
10 |
28,665,748 (GRCm39) |
missense |
probably benign |
|
R4801:Themis
|
UTSW |
10 |
28,637,507 (GRCm39) |
missense |
probably benign |
0.21 |
R4802:Themis
|
UTSW |
10 |
28,637,507 (GRCm39) |
missense |
probably benign |
0.21 |
R5249:Themis
|
UTSW |
10 |
28,637,195 (GRCm39) |
nonsense |
probably null |
|
R5557:Themis
|
UTSW |
10 |
28,657,882 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5569:Themis
|
UTSW |
10 |
28,657,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5640:Themis
|
UTSW |
10 |
28,739,372 (GRCm39) |
missense |
probably damaging |
0.99 |
R5735:Themis
|
UTSW |
10 |
28,598,530 (GRCm39) |
missense |
probably benign |
0.09 |
R6467:Themis
|
UTSW |
10 |
28,657,762 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6523:Themis
|
UTSW |
10 |
28,657,894 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6727:Themis
|
UTSW |
10 |
28,657,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7014:Themis
|
UTSW |
10 |
28,665,703 (GRCm39) |
missense |
probably benign |
|
R7101:Themis
|
UTSW |
10 |
28,637,422 (GRCm39) |
nonsense |
probably null |
|
R7185:Themis
|
UTSW |
10 |
28,657,873 (GRCm39) |
missense |
probably benign |
0.00 |
R7323:Themis
|
UTSW |
10 |
28,609,497 (GRCm39) |
missense |
probably benign |
|
R7386:Themis
|
UTSW |
10 |
28,665,743 (GRCm39) |
missense |
probably benign |
0.00 |
R7472:Themis
|
UTSW |
10 |
28,637,415 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7555:Themis
|
UTSW |
10 |
28,657,698 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7715:Themis
|
UTSW |
10 |
28,739,305 (GRCm39) |
missense |
probably benign |
0.02 |
R7825:Themis
|
UTSW |
10 |
28,658,470 (GRCm39) |
missense |
probably benign |
0.11 |
R7992:Themis
|
UTSW |
10 |
28,637,342 (GRCm39) |
missense |
probably benign |
0.02 |
R8112:Themis
|
UTSW |
10 |
28,673,502 (GRCm39) |
makesense |
probably null |
|
R8850:Themis
|
UTSW |
10 |
28,673,492 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8954:Themis
|
UTSW |
10 |
28,665,709 (GRCm39) |
missense |
probably benign |
0.00 |
R9038:Themis
|
UTSW |
10 |
28,657,749 (GRCm39) |
missense |
probably damaging |
0.99 |
R9081:Themis
|
UTSW |
10 |
28,544,582 (GRCm39) |
unclassified |
probably benign |
|
R9168:Themis
|
UTSW |
10 |
28,658,233 (GRCm39) |
missense |
probably benign |
0.01 |
R9169:Themis
|
UTSW |
10 |
28,658,233 (GRCm39) |
missense |
probably benign |
0.01 |
R9170:Themis
|
UTSW |
10 |
28,658,233 (GRCm39) |
missense |
probably benign |
0.01 |
R9171:Themis
|
UTSW |
10 |
28,658,233 (GRCm39) |
missense |
probably benign |
0.01 |
R9269:Themis
|
UTSW |
10 |
28,739,390 (GRCm39) |
missense |
probably benign |
0.10 |
R9404:Themis
|
UTSW |
10 |
28,665,743 (GRCm39) |
missense |
probably benign |
0.00 |
R9518:Themis
|
UTSW |
10 |
28,544,748 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2014-01-21 |