Incidental Mutation 'R6523:Themis'
| ID |
521510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Themis
|
| Ensembl Gene |
ENSMUSG00000049109 |
| Gene Name |
thymocyte selection associated |
| Synonyms |
Tsepa, Gasp, E430004N04Rik |
| MMRRC Submission |
044649-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R6523 (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 T
at 28657894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 154
(T154I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000060409]
[ENSMUST00000105516]
[ENSMUST00000159927]
[ENSMUST00000161345]
|
| AlphaFold |
Q8BGW0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056097
AA Change: T307I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000060129
Gene: ENSMUSG00000049109
AA Change: T307I
| 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: T307I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000055315
Gene: ENSMUSG00000049109
AA Change: T307I
| 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: T307I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000101155
Gene: ENSMUSG00000049109
AA Change: T307I
| 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 |
possibly damaging
Transcript: ENSMUST00000161345
AA Change: T154I
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123894
Gene: ENSMUSG00000049109
AA Change: T154I
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (68/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
A |
G |
1: 173,160,120 (GRCm39) |
|
probably null |
Het |
| Alg2 |
A |
T |
4: 47,472,071 (GRCm39) |
S246T |
possibly damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Arid4a |
A |
G |
12: 71,114,115 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,762,553 (GRCm39) |
|
probably null |
Het |
| B430306N03Rik |
A |
G |
17: 48,626,193 (GRCm39) |
T129A |
possibly damaging |
Het |
| Blvrb |
C |
A |
7: 27,165,142 (GRCm39) |
|
probably null |
Het |
| Ccdc175 |
T |
C |
12: 72,191,565 (GRCm39) |
N337S |
probably benign |
Het |
| Ccdc28b |
A |
C |
4: 129,514,780 (GRCm39) |
F110V |
probably damaging |
Het |
| Cd200 |
A |
G |
16: 45,220,633 (GRCm39) |
Y16H |
probably benign |
Het |
| Cfh |
T |
G |
1: 140,029,445 (GRCm39) |
E950A |
possibly damaging |
Het |
| Clec3a |
A |
T |
8: 115,152,345 (GRCm39) |
Y117F |
probably damaging |
Het |
| CN725425 |
A |
G |
15: 91,115,784 (GRCm39) |
S9G |
probably benign |
Het |
| Coasy |
T |
A |
11: 100,976,944 (GRCm39) |
W535R |
probably damaging |
Het |
| Cox4i1 |
T |
A |
8: 121,399,480 (GRCm39) |
S30R |
probably benign |
Het |
| Csnk1a1 |
G |
A |
18: 61,688,829 (GRCm39) |
S3N |
probably benign |
Het |
| Dcst2 |
C |
G |
3: 89,280,808 (GRCm39) |
L669V |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,471,186 (GRCm39) |
I1346V |
probably benign |
Het |
| Fbxw24 |
G |
A |
9: 109,434,048 (GRCm39) |
R421* |
probably null |
Het |
| Fstl5 |
G |
A |
3: 76,443,641 (GRCm39) |
V329I |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,888,235 (GRCm39) |
|
probably null |
Het |
| Gna11 |
A |
T |
10: 81,380,688 (GRCm39) |
I25N |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,734,374 (GRCm39) |
V1539I |
possibly damaging |
Het |
| Hipk3 |
T |
A |
2: 104,269,753 (GRCm39) |
T479S |
possibly damaging |
Het |
| Hspa1b |
A |
G |
17: 35,176,167 (GRCm39) |
I606T |
probably benign |
Het |
| Idnk |
T |
A |
13: 58,311,457 (GRCm39) |
F141L |
probably damaging |
Het |
| Ifit3 |
A |
G |
19: 34,565,555 (GRCm39) |
N367S |
probably benign |
Het |
| Kcnn1 |
A |
T |
8: 71,299,169 (GRCm39) |
D448E |
possibly damaging |
Het |
| Krt14 |
T |
C |
11: 100,095,923 (GRCm39) |
T212A |
possibly damaging |
Het |
| Ldlr |
G |
A |
9: 21,648,549 (GRCm39) |
C285Y |
probably damaging |
Het |
| Mark3 |
G |
A |
12: 111,593,669 (GRCm39) |
V234I |
probably damaging |
Het |
| Meikin |
T |
A |
11: 54,289,327 (GRCm39) |
Y233* |
probably null |
Het |
| Mtcl2 |
G |
A |
2: 156,902,263 (GRCm39) |
Q251* |
probably null |
Het |
| Muc20 |
T |
C |
16: 32,613,820 (GRCm39) |
D519G |
possibly damaging |
Het |
| Nalcn |
T |
A |
14: 123,555,255 (GRCm39) |
H876L |
probably benign |
Het |
| Ncaph |
A |
T |
2: 126,947,809 (GRCm39) |
I698K |
probably damaging |
Het |
| Nipal1 |
A |
T |
5: 72,824,951 (GRCm39) |
I215F |
probably damaging |
Het |
| Nrde2 |
A |
T |
12: 100,100,664 (GRCm39) |
D607E |
possibly damaging |
Het |
| Nt5dc2 |
T |
C |
14: 30,857,662 (GRCm39) |
F217S |
probably damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,706,697 (GRCm39) |
S156T |
probably benign |
Het |
| Or13c9 |
A |
T |
4: 52,935,500 (GRCm39) |
I261N |
probably damaging |
Het |
| Or5b110-ps1 |
A |
C |
19: 13,259,728 (GRCm39) |
D231E |
probably benign |
Het |
| Or5p4 |
A |
C |
7: 107,680,762 (GRCm39) |
T254P |
probably benign |
Het |
| Pfas |
A |
T |
11: 68,881,283 (GRCm39) |
I1028K |
probably benign |
Het |
| Pnpla5 |
C |
A |
15: 83,999,912 (GRCm39) |
R329L |
possibly damaging |
Het |
| Pramel30 |
T |
C |
4: 144,058,218 (GRCm39) |
V275A |
probably benign |
Het |
| Rhot2 |
A |
G |
17: 26,058,394 (GRCm39) |
V393A |
possibly damaging |
Het |
| Rigi |
T |
A |
4: 40,205,947 (GRCm39) |
T882S |
probably benign |
Het |
| Rnase9 |
T |
A |
14: 51,276,684 (GRCm39) |
Y98F |
possibly damaging |
Het |
| Sacs |
C |
A |
14: 61,440,410 (GRCm39) |
L819I |
probably damaging |
Het |
| Sall3 |
C |
T |
18: 81,016,403 (GRCm39) |
M508I |
possibly damaging |
Het |
| Scube3 |
G |
A |
17: 28,381,362 (GRCm39) |
C301Y |
probably damaging |
Het |
| Sgo2b |
G |
T |
8: 64,380,538 (GRCm39) |
H765N |
probably benign |
Het |
| Sh3gl1 |
A |
T |
17: 56,324,617 (GRCm39) |
Y344N |
possibly damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,572,683 (GRCm39) |
V635A |
probably benign |
Het |
| Slc1a4 |
T |
A |
11: 20,282,114 (GRCm39) |
Y40F |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,117,305 (GRCm39) |
K755* |
probably null |
Het |
| Slco1a5 |
C |
T |
6: 142,212,121 (GRCm39) |
G38R |
probably damaging |
Het |
| Snx25 |
T |
A |
8: 46,508,892 (GRCm39) |
D564V |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,486,018 (GRCm39) |
D189E |
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,896,095 (GRCm39) |
|
probably null |
Het |
| Ssbp2 |
A |
G |
13: 91,841,170 (GRCm39) |
I317V |
probably benign |
Het |
| Stil |
AAGATTTCCAG |
A |
4: 114,889,911 (GRCm39) |
|
probably null |
Het |
| Strn3 |
A |
T |
12: 51,689,881 (GRCm39) |
|
probably null |
Het |
| Tcaf2 |
A |
T |
6: 42,619,953 (GRCm39) |
F25I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,626,390 (GRCm39) |
R13176G |
probably damaging |
Het |
| Utp4 |
G |
A |
8: 107,625,095 (GRCm39) |
V125M |
probably damaging |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,777 (GRCm39) |
M202L |
possibly damaging |
Het |
| Zfp292 |
G |
C |
4: 34,816,301 (GRCm39) |
F329L |
probably benign |
Het |
| Zfp541 |
C |
T |
7: 15,829,445 (GRCm39) |
P1281L |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,973,968 (GRCm39) |
Q79L |
possibly 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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTCCGGATTCTCCCAAGTTTAG -3'
(R):5'- ATGGAAAGCTTTGGTGGCC -3'
Sequencing Primer
(F):5'- CTCCCAAGTTTAGACGTTGAAGTC -3'
(R):5'- ACCACGTGGAGAGTTTCTTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation