Incidental Mutation 'R9168:Themis'
ID |
696195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Themis
|
Ensembl Gene |
ENSMUSG00000049109 |
Gene Name |
thymocyte selection associated |
Synonyms |
Tsepa, Gasp, E430004N04Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R9168 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 28658233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 420
(T420N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000060409]
[ENSMUST00000105516]
[ENSMUST00000159927]
[ENSMUST00000161345]
|
AlphaFold |
Q8BGW0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056097
AA Change: T420N
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000060129 Gene: ENSMUSG00000049109 AA Change: T420N
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 benign
Transcript: ENSMUST00000060409
AA Change: T420N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000055315 Gene: ENSMUSG00000049109 AA Change: T420N
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 benign
Transcript: ENSMUST00000105516
AA Change: T420N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101155 Gene: ENSMUSG00000049109 AA Change: T420N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
Validation Efficiency |
97% (67/69) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alppl2 |
T |
C |
1: 87,015,050 (GRCm39) |
Y437C |
probably damaging |
Het |
Arhgef11 |
T |
G |
3: 87,633,790 (GRCm39) |
L808R |
probably damaging |
Het |
Armc7 |
G |
A |
11: 115,366,724 (GRCm39) |
|
probably benign |
Het |
Ascl1 |
T |
C |
10: 87,328,361 (GRCm39) |
N197S |
probably benign |
Het |
Cdc42bpb |
T |
G |
12: 111,286,517 (GRCm39) |
E630D |
possibly damaging |
Het |
Cep128 |
T |
C |
12: 91,233,794 (GRCm39) |
I425V |
probably damaging |
Het |
Ces4a |
T |
A |
8: 105,876,050 (GRCm39) |
D530E |
probably benign |
Het |
Ch25h |
T |
C |
19: 34,451,905 (GRCm39) |
I208V |
probably benign |
Het |
Cnpy3 |
A |
C |
17: 47,063,019 (GRCm39) |
C11G |
unknown |
Het |
Col12a1 |
A |
C |
9: 79,548,783 (GRCm39) |
Y2187* |
probably null |
Het |
Cyp2c40 |
C |
T |
19: 39,755,819 (GRCm39) |
M498I |
probably benign |
Het |
D630039A03Rik |
T |
A |
4: 57,910,113 (GRCm39) |
Y233F |
probably damaging |
Het |
Dffa |
A |
T |
4: 149,192,226 (GRCm39) |
D100V |
probably damaging |
Het |
Dock7 |
A |
T |
4: 98,953,643 (GRCm39) |
M363K |
|
Het |
Dscam |
A |
G |
16: 96,420,768 (GRCm39) |
V1706A |
possibly damaging |
Het |
En1 |
A |
G |
1: 120,530,892 (GRCm39) |
D44G |
unknown |
Het |
Enpp4 |
T |
A |
17: 44,413,141 (GRCm39) |
N131I |
probably damaging |
Het |
Ezh1 |
T |
C |
11: 101,086,433 (GRCm39) |
D587G |
probably damaging |
Het |
Gm21149 |
G |
T |
5: 15,677,132 (GRCm39) |
H241N |
possibly damaging |
Het |
Gna15 |
T |
C |
10: 81,350,192 (GRCm39) |
Y70C |
probably damaging |
Het |
Gucy1a1 |
T |
G |
3: 82,009,353 (GRCm39) |
M552L |
probably damaging |
Het |
Herc2 |
G |
A |
7: 55,802,208 (GRCm39) |
V2017M |
probably damaging |
Het |
Hsf4 |
C |
T |
8: 105,999,373 (GRCm39) |
A297V |
probably benign |
Het |
Ighd |
T |
A |
12: 113,379,203 (GRCm39) |
T122S |
|
Het |
Iqca1 |
C |
T |
1: 90,065,937 (GRCm39) |
R218Q |
probably damaging |
Het |
Isl2 |
C |
A |
9: 55,452,227 (GRCm39) |
S266R |
probably benign |
Het |
Itpkb |
A |
C |
1: 180,160,028 (GRCm39) |
R51S |
probably benign |
Het |
Jup |
A |
T |
11: 100,274,219 (GRCm39) |
|
probably null |
Het |
Kbtbd6 |
T |
C |
14: 79,690,553 (GRCm39) |
V416A |
possibly damaging |
Het |
Klhl22 |
T |
A |
16: 17,602,068 (GRCm39) |
Y372N |
probably damaging |
Het |
Klrc3 |
T |
C |
6: 129,616,142 (GRCm39) |
E191G |
probably damaging |
Het |
Lhx5 |
A |
G |
5: 120,570,410 (GRCm39) |
D22G |
probably benign |
Het |
Marchf9 |
GGGCGGCGGCGGCGGCG |
GGGCGGCGGCGGCG |
10: 126,895,360 (GRCm39) |
|
probably benign |
Het |
Mbtps1 |
A |
G |
8: 120,248,602 (GRCm39) |
I707T |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,331,047 (GRCm39) |
Y2219N |
probably damaging |
Het |
Neb |
A |
G |
2: 52,085,696 (GRCm39) |
I5513T |
probably damaging |
Het |
Nkx1-1 |
C |
T |
5: 33,591,131 (GRCm39) |
V64M |
unknown |
Het |
Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
Or2g25 |
T |
C |
17: 37,971,047 (GRCm39) |
Y59C |
probably damaging |
Het |
Or52e18 |
A |
G |
7: 104,609,001 (GRCm39) |
*313R |
probably null |
Het |
Or7e173 |
T |
C |
9: 19,938,818 (GRCm39) |
M139V |
probably benign |
Het |
Osbpl3 |
A |
T |
6: 50,329,762 (GRCm39) |
|
probably null |
Het |
Phc3 |
T |
A |
3: 30,961,544 (GRCm39) |
M963L |
probably benign |
Het |
Phf20 |
C |
T |
2: 156,109,234 (GRCm39) |
P194S |
probably benign |
Het |
Pou1f1 |
C |
T |
16: 65,317,427 (GRCm39) |
|
probably benign |
Het |
Pramel46 |
T |
A |
5: 95,418,133 (GRCm39) |
M288L |
probably benign |
Het |
Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
Prelid1 |
A |
G |
13: 55,470,010 (GRCm39) |
K3R |
possibly damaging |
Het |
Psd |
C |
A |
19: 46,309,233 (GRCm39) |
D575Y |
probably damaging |
Het |
Ptger3 |
C |
A |
3: 157,273,424 (GRCm39) |
T257K |
probably damaging |
Het |
Pth1r |
T |
C |
9: 110,556,204 (GRCm39) |
H223R |
probably benign |
Het |
Ptk2b |
C |
T |
14: 66,424,899 (GRCm39) |
E182K |
probably damaging |
Het |
Ptprj |
T |
C |
2: 90,294,916 (GRCm39) |
T431A |
possibly damaging |
Het |
Rbbp5 |
T |
A |
1: 132,417,464 (GRCm39) |
D119E |
probably benign |
Het |
Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
Rinl |
T |
G |
7: 28,490,084 (GRCm39) |
L41R |
possibly damaging |
Het |
Rrp12 |
A |
G |
19: 41,865,603 (GRCm39) |
V730A |
probably benign |
Het |
Saraf |
G |
T |
8: 34,632,343 (GRCm39) |
V141L |
possibly damaging |
Het |
Slc6a13 |
T |
C |
6: 121,302,042 (GRCm39) |
L208P |
probably damaging |
Het |
Slc9a9 |
C |
A |
9: 94,595,000 (GRCm39) |
T170K |
probably damaging |
Het |
Spata31f1e |
T |
C |
4: 42,793,380 (GRCm39) |
T251A |
probably benign |
Het |
Stk33 |
T |
C |
7: 108,928,747 (GRCm39) |
N255S |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,930,722 (GRCm39) |
V1769M |
probably damaging |
Het |
Tmem116 |
T |
C |
5: 121,605,975 (GRCm39) |
V109A |
|
Het |
Tnfaip2 |
T |
A |
12: 111,411,382 (GRCm39) |
L2Q |
probably damaging |
Het |
Trub1 |
T |
C |
19: 57,452,859 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,679,260 (GRCm39) |
V10821I |
unknown |
Het |
Ube2j1 |
C |
A |
4: 33,045,111 (GRCm39) |
A197D |
probably benign |
Het |
Vmn2r101 |
T |
A |
17: 19,809,138 (GRCm39) |
I89N |
probably damaging |
Het |
Wfikkn1 |
T |
C |
17: 26,097,145 (GRCm39) |
Y393C |
probably damaging |
Het |
Zfp729b |
C |
A |
13: 67,741,942 (GRCm39) |
E108* |
probably null |
Het |
Zfp976 |
A |
T |
7: 42,263,011 (GRCm39) |
C276* |
probably null |
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 |
|
IGL01729:Themis
|
APN |
10 |
28,637,587 (GRCm39) |
nonsense |
probably null |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGAAGACCACGGGAGTTCC -3'
(R):5'- CTGGGGTAGCTGCCAAAATGTC -3'
Sequencing Primer
(F):5'- GCCTATGACCTGCAGATAGCTAAG -3'
(R):5'- GCTGCCAAAATGTCATCTTTAATGG -3'
|
Posted On |
2022-02-07 |