Incidental Mutation 'R7101:Themis'
| ID |
550834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Themis
|
| Ensembl Gene |
ENSMUSG00000049109 |
| Gene Name |
thymocyte selection associated |
| Synonyms |
Tsepa, Gasp, E430004N04Rik |
| MMRRC Submission |
045193-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R7101 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 28637422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 175
(Y175*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000060409]
[ENSMUST00000105516]
[ENSMUST00000159927]
[ENSMUST00000161345]
|
| AlphaFold |
Q8BGW0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056097
AA Change: Y175*
|
| SMART Domains |
Protein: ENSMUSP00000060129
Gene: ENSMUSG00000049109
AA Change: Y175*
| 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: Y175*
|
| SMART Domains |
Protein: ENSMUSP00000055315
Gene: ENSMUSG00000049109
AA Change: Y175*
| 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: Y175*
|
| SMART Domains |
Protein: ENSMUSP00000101155
Gene: ENSMUSG00000049109
AA Change: Y175*
| 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: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,438 (GRCm39) |
D568G |
probably benign |
Het |
| Angpt1 |
T |
C |
15: 42,386,965 (GRCm39) |
I130V |
probably benign |
Het |
| Ankrd11 |
G |
T |
8: 123,622,194 (GRCm39) |
Q553K |
probably benign |
Het |
| Ankrd42 |
A |
T |
7: 92,280,752 (GRCm39) |
H59Q |
possibly damaging |
Het |
| Ankrd52 |
C |
T |
10: 128,218,249 (GRCm39) |
R318C |
probably damaging |
Het |
| Arrdc5 |
G |
A |
17: 56,601,522 (GRCm39) |
T201M |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,459,132 (GRCm39) |
S377P |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,957,056 (GRCm39) |
F936S |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,766,483 (GRCm39) |
D913G |
probably damaging |
Het |
| Blnk |
T |
A |
19: 40,961,082 (GRCm39) |
M21L |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,587,401 (GRCm39) |
H132R |
probably benign |
Het |
| Ccdc154 |
A |
G |
17: 25,382,442 (GRCm39) |
H88R |
probably benign |
Het |
| Cfap20dc |
G |
T |
14: 8,511,171 (GRCm38) |
S414R |
possibly damaging |
Het |
| Clic5 |
G |
T |
17: 44,586,179 (GRCm39) |
A223S |
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,014,795 (GRCm39) |
Y870F |
possibly damaging |
Het |
| Dhx37 |
G |
A |
5: 125,502,006 (GRCm39) |
Q497* |
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,031,880 (GRCm39) |
T1763A |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,042,221 (GRCm39) |
R2005G |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,389,722 (GRCm39) |
G541S |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
| Ephb3 |
C |
T |
16: 21,037,268 (GRCm39) |
H455Y |
possibly damaging |
Het |
| Eri1 |
A |
C |
8: 35,949,777 (GRCm39) |
C127G |
probably damaging |
Het |
| Faf1 |
A |
T |
4: 109,783,153 (GRCm39) |
E548D |
probably benign |
Het |
| Gm3285 |
C |
A |
10: 77,698,194 (GRCm39) |
C114* |
probably null |
Het |
| Gm9736 |
C |
T |
10: 77,587,167 (GRCm39) |
V8I |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,276,174 (GRCm39) |
M1154L |
probably benign |
Het |
| Grin1 |
G |
A |
2: 25,186,647 (GRCm39) |
T770M |
probably damaging |
Het |
| Haus1 |
A |
G |
18: 77,854,570 (GRCm39) |
S67P |
possibly damaging |
Het |
| Homer1 |
C |
A |
13: 93,492,562 (GRCm39) |
Q184K |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,723,680 (GRCm39) |
T401A |
probably benign |
Het |
| Il6st |
G |
A |
13: 112,631,907 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
A |
T |
17: 53,212,038 (GRCm39) |
D612V |
probably damaging |
Het |
| Ltbr |
C |
G |
6: 125,289,763 (GRCm39) |
E144Q |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 13,063,579 (GRCm39) |
R961L |
possibly damaging |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Myo1b |
G |
T |
1: 51,797,160 (GRCm39) |
Q961K |
probably benign |
Het |
| Myo1h |
C |
A |
5: 114,480,258 (GRCm39) |
T531N |
|
Het |
| Ngly1 |
G |
A |
14: 16,283,445 (GRCm38) |
R408Q |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,632,966 (GRCm39) |
E1055G |
possibly damaging |
Het |
| Nutm2 |
A |
G |
13: 50,626,934 (GRCm39) |
K363R |
probably benign |
Het |
| Obox8 |
A |
T |
7: 14,066,752 (GRCm39) |
Y97* |
probably null |
Het |
| Odc1 |
A |
G |
12: 17,597,319 (GRCm39) |
D7G |
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,252,558 (GRCm39) |
T182I |
unknown |
Het |
| Or2t49 |
A |
G |
11: 58,393,379 (GRCm39) |
M7T |
probably benign |
Het |
| Or4c111 |
A |
T |
2: 88,844,324 (GRCm39) |
V28E |
possibly damaging |
Het |
| Or8b12b |
T |
C |
9: 37,684,287 (GRCm39) |
S111P |
probably damaging |
Het |
| Or8b46 |
G |
A |
9: 38,450,966 (GRCm39) |
M258I |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,827,430 (GRCm39) |
D188G |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,122,922 (GRCm39) |
E400G |
probably benign |
Het |
| Phlpp1 |
G |
A |
1: 106,100,397 (GRCm39) |
V222M |
possibly damaging |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,683 (GRCm39) |
V536A |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,223,833 (GRCm39) |
V719A |
possibly damaging |
Het |
| Prpf8 |
C |
T |
11: 75,381,226 (GRCm39) |
A242V |
possibly damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,771 (GRCm39) |
L908P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,117,005 (GRCm39) |
N2146D |
possibly damaging |
Het |
| Rtkn |
T |
C |
6: 83,126,993 (GRCm39) |
V333A |
possibly damaging |
Het |
| Samd8 |
T |
C |
14: 21,825,442 (GRCm39) |
Y196H |
probably benign |
Het |
| Six5 |
A |
G |
7: 18,828,784 (GRCm39) |
T75A |
probably benign |
Het |
| Slc35a4 |
T |
A |
18: 36,814,591 (GRCm39) |
L42H |
probably damaging |
Het |
| Svs3a |
A |
T |
2: 164,131,933 (GRCm39) |
D168V |
probably damaging |
Het |
| Tspan33 |
G |
T |
6: 29,716,783 (GRCm39) |
R180L |
probably benign |
Het |
| Ttc28 |
C |
T |
5: 111,232,958 (GRCm39) |
S145F |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,810,878 (GRCm39) |
T102I |
unknown |
Het |
| Usp34 |
T |
A |
11: 23,376,183 (GRCm39) |
V1908E |
|
Het |
| Vmn2r101 |
A |
G |
17: 19,809,350 (GRCm39) |
I160V |
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,358 (GRCm39) |
C638S |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,682,777 (GRCm39) |
R3136Q |
|
Het |
| Zan |
C |
A |
5: 137,396,552 (GRCm39) |
A4335S |
unknown |
Het |
| Zfp180 |
G |
T |
7: 23,803,958 (GRCm39) |
V126F |
probably benign |
Het |
| Zfp429 |
T |
A |
13: 67,538,931 (GRCm39) |
D171V |
possibly damaging |
Het |
| Zfp638 |
T |
C |
6: 83,931,708 (GRCm39) |
I798T |
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 |
|
|
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'- AGCAGACTAGGTCATCCTTGC -3'
(R):5'- TCCTCAGTGGATACTTACATTTCAGC -3'
Sequencing Primer
(F):5'- ATCCTTGCTTTTATCACCTGAAGG -3'
(R):5'- GTGGATACTTACATTTCAGCACACC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation