Incidental Mutation 'R7715:Themis'
ID |
594862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Themis
|
Ensembl Gene |
ENSMUSG00000049109 |
Gene Name |
thymocyte selection associated |
Synonyms |
Tsepa, Gasp, E430004N04Rik |
MMRRC Submission |
045773-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R7715 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 28739305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 592
(V592I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000159927]
|
AlphaFold |
Q8BGW0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056097
AA Change: V592I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000060129 Gene: ENSMUSG00000049109 AA Change: V592I
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: ENSMUST00000159927
|
SMART Domains |
Protein: ENSMUSP00000123919 Gene: ENSMUSG00000049109
Domain | Start | End | E-Value | Type |
Pfam:CABIT
|
17 |
91 |
1.9e-10 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (67/68) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
G |
1: 53,221,659 (GRCm39) |
F57L |
probably benign |
Het |
Agl |
C |
T |
3: 116,551,905 (GRCm39) |
R563Q |
|
Het |
Ahctf1 |
A |
G |
1: 179,598,413 (GRCm39) |
M919T |
probably benign |
Het |
Ano4 |
A |
T |
10: 88,831,173 (GRCm39) |
N483K |
probably damaging |
Het |
Armt1 |
A |
G |
10: 4,400,751 (GRCm39) |
K166R |
probably benign |
Het |
Asgr2 |
T |
C |
11: 69,987,721 (GRCm39) |
V73A |
probably benign |
Het |
Atp6v0a2 |
A |
C |
5: 124,791,262 (GRCm39) |
T564P |
probably damaging |
Het |
B3gntl1 |
T |
C |
11: 121,530,622 (GRCm39) |
T150A |
possibly damaging |
Het |
Bach1 |
A |
G |
16: 87,516,859 (GRCm39) |
I467V |
possibly damaging |
Het |
Bicd1 |
A |
G |
6: 149,414,471 (GRCm39) |
K395E |
probably benign |
Het |
Cadps |
G |
A |
14: 12,457,762 (GRCm38) |
P1040S |
probably benign |
Het |
Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
Canx |
A |
G |
11: 50,201,631 (GRCm39) |
S80P |
probably benign |
Het |
Ccdc149 |
T |
A |
5: 52,561,533 (GRCm39) |
|
probably null |
Het |
Cd34 |
A |
T |
1: 194,631,624 (GRCm39) |
N87Y |
probably damaging |
Het |
Cdh11 |
T |
A |
8: 103,391,346 (GRCm39) |
I297F |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,400,197 (GRCm39) |
N439D |
probably damaging |
Het |
Cip2a |
A |
T |
16: 48,834,347 (GRCm39) |
Q643L |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,351,379 (GRCm39) |
I1569V |
unknown |
Het |
Cxcr4 |
C |
T |
1: 128,517,479 (GRCm39) |
V61M |
probably damaging |
Het |
Cyp20a1 |
G |
A |
1: 60,411,764 (GRCm39) |
V271M |
probably benign |
Het |
Cyp2b23 |
T |
C |
7: 26,381,120 (GRCm39) |
Y79C |
probably benign |
Het |
Daam1 |
A |
G |
12: 72,035,675 (GRCm39) |
K957E |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,664,427 (GRCm39) |
K947E |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,800,504 (GRCm39) |
K173R |
possibly damaging |
Het |
Emc1 |
C |
T |
4: 139,098,934 (GRCm39) |
R806C |
probably damaging |
Het |
Epg5 |
G |
A |
18: 78,011,801 (GRCm39) |
R816Q |
probably damaging |
Het |
Faf1 |
G |
T |
4: 109,568,011 (GRCm39) |
D24Y |
probably damaging |
Het |
Fchsd1 |
A |
T |
18: 38,099,695 (GRCm39) |
|
probably null |
Het |
Foxp1 |
T |
C |
6: 98,922,621 (GRCm39) |
T404A |
unknown |
Het |
Fra10ac1 |
T |
C |
19: 38,178,286 (GRCm39) |
E299G |
probably damaging |
Het |
Gon4l |
A |
G |
3: 88,815,313 (GRCm39) |
T1959A |
probably benign |
Het |
Gpam |
A |
C |
19: 55,077,353 (GRCm39) |
V146G |
probably benign |
Het |
Hephl1 |
T |
A |
9: 14,972,081 (GRCm39) |
D953V |
probably benign |
Het |
Kcnc2 |
G |
T |
10: 112,107,845 (GRCm39) |
E79* |
probably null |
Het |
Kcnj12 |
T |
A |
11: 60,957,778 (GRCm39) |
|
probably null |
Het |
Llgl2 |
A |
T |
11: 115,740,554 (GRCm39) |
T417S |
probably benign |
Het |
Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
Macc1 |
C |
T |
12: 119,409,991 (GRCm39) |
A253V |
possibly damaging |
Het |
Mark1 |
A |
G |
1: 184,639,431 (GRCm39) |
S529P |
probably damaging |
Het |
Mfsd6l |
T |
C |
11: 68,448,376 (GRCm39) |
L409P |
probably damaging |
Het |
Nek1 |
A |
G |
8: 61,459,794 (GRCm39) |
E34G |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,433,829 (GRCm39) |
|
probably null |
Het |
Obsl1 |
A |
T |
1: 75,478,680 (GRCm39) |
V686D |
probably damaging |
Het |
Or2l5 |
C |
T |
16: 19,333,480 (GRCm39) |
R302K |
probably benign |
Het |
Or55b10 |
T |
A |
7: 102,143,668 (GRCm39) |
M105L |
possibly damaging |
Het |
Or7h8 |
G |
A |
9: 20,123,731 (GRCm39) |
G29R |
probably damaging |
Het |
Or7h8 |
G |
A |
9: 20,123,732 (GRCm39) |
G29E |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,775 (GRCm39) |
M140K |
probably benign |
Het |
Or8g18 |
A |
T |
9: 39,149,174 (GRCm39) |
L182H |
probably damaging |
Het |
Ostm1 |
G |
A |
10: 42,559,183 (GRCm39) |
G148R |
probably benign |
Het |
Oxsr1 |
A |
G |
9: 119,071,822 (GRCm39) |
S470P |
probably damaging |
Het |
Pacs1 |
C |
T |
19: 5,191,709 (GRCm39) |
M709I |
probably benign |
Het |
Pan2 |
A |
G |
10: 128,153,592 (GRCm39) |
M963V |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,795,904 (GRCm39) |
L662P |
possibly damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
Sh2b2 |
T |
C |
5: 136,247,889 (GRCm39) |
N554S |
probably benign |
Het |
Sh3gl2 |
T |
A |
4: 85,317,077 (GRCm39) |
|
probably null |
Het |
Slc24a4 |
A |
G |
12: 102,185,219 (GRCm39) |
M93V |
possibly damaging |
Het |
Sohlh1 |
A |
G |
2: 25,734,640 (GRCm39) |
S218P |
possibly damaging |
Het |
Spast |
T |
A |
17: 74,675,921 (GRCm39) |
N321K |
probably benign |
Het |
Srcap |
T |
G |
7: 127,148,460 (GRCm39) |
I1936S |
probably damaging |
Het |
Tnfrsf1a |
C |
T |
6: 125,338,377 (GRCm39) |
T296I |
possibly damaging |
Het |
Ttk |
A |
G |
9: 83,747,206 (GRCm39) |
T682A |
probably benign |
Het |
Virma |
C |
T |
4: 11,549,682 (GRCm39) |
R1807W |
probably damaging |
Het |
Virma |
A |
G |
4: 11,513,016 (GRCm39) |
|
probably null |
Het |
Vmn2r101 |
T |
A |
17: 19,832,177 (GRCm39) |
D724E |
probably damaging |
Het |
Vmn2r11 |
A |
G |
5: 109,195,307 (GRCm39) |
V673A |
probably damaging |
Het |
Wbp4 |
C |
T |
14: 79,703,734 (GRCm39) |
S271N |
probably benign |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTACCTCAAAACTTGCAC -3'
(R):5'- AACTGTGTGTTGTAGCCTTATCAGG -3'
Sequencing Primer
(F):5'- GGCTACCTCAAAACTTGCACACTTAG -3'
(R):5'- TTGTAGCCTTATCAGGTAGATGG -3'
|
Posted On |
2019-11-12 |