Incidental Mutation 'R8112:Themis'
| ID |
630937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Themis
|
| Ensembl Gene |
ENSMUSG00000049109 |
| Gene Name |
thymocyte selection associated |
| Synonyms |
Tsepa, Gasp, E430004N04Rik |
| MMRRC Submission |
067541-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R8112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 28673502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 596
(*596W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000105516]
[ENSMUST00000159927]
|
| AlphaFold |
Q8BGW0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056097
|
| SMART Domains |
Protein: ENSMUSP00000060129
Gene: ENSMUSG00000049109
| 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: ENSMUST00000105516
AA Change: *596W
|
| SMART Domains |
Protein: ENSMUSP00000101155
Gene: ENSMUSG00000049109
AA Change: *596W
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 95.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,264,624 (GRCm39) |
V3002A |
probably benign |
Het |
| Aifm3 |
T |
C |
16: 17,320,804 (GRCm39) |
V422A |
probably damaging |
Het |
| Alx3 |
G |
T |
3: 107,512,300 (GRCm39) |
E313* |
probably null |
Het |
| Arfgef3 |
A |
G |
10: 18,528,379 (GRCm39) |
V336A |
possibly damaging |
Het |
| Art5 |
A |
T |
7: 101,747,218 (GRCm39) |
V187E |
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,721,433 (GRCm39) |
V154A |
probably benign |
Het |
| B3galt1 |
A |
G |
2: 67,948,702 (GRCm39) |
D139G |
probably damaging |
Het |
| Cbx5 |
A |
G |
15: 103,108,171 (GRCm39) |
V158A |
probably benign |
Het |
| Cdca7l |
T |
C |
12: 117,840,779 (GRCm39) |
|
probably null |
Het |
| Cecr2 |
T |
C |
6: 120,739,175 (GRCm39) |
S1301P |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,538,012 (GRCm39) |
S80T |
probably benign |
Het |
| Cyp2g1 |
T |
A |
7: 26,518,886 (GRCm39) |
D427E |
probably benign |
Het |
| Depdc5 |
G |
A |
5: 33,126,050 (GRCm39) |
V1199I |
possibly damaging |
Het |
| Efcab3 |
T |
C |
11: 104,841,026 (GRCm39) |
V3643A |
unknown |
Het |
| Ehmt1 |
G |
T |
2: 24,753,396 (GRCm39) |
L335M |
probably damaging |
Het |
| Elfn2 |
A |
G |
15: 78,557,635 (GRCm39) |
V304A |
probably damaging |
Het |
| Emc1 |
C |
T |
4: 139,094,498 (GRCm39) |
R684W |
probably benign |
Het |
| Eme2 |
A |
T |
17: 25,113,809 (GRCm39) |
V72E |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,304,374 (GRCm39) |
K230* |
probably null |
Het |
| Gfap |
T |
A |
11: 102,787,928 (GRCm39) |
I6F |
probably benign |
Het |
| Grid2 |
T |
C |
6: 63,885,891 (GRCm39) |
S96P |
probably damaging |
Het |
| H2-M2 |
A |
G |
17: 37,794,383 (GRCm39) |
L13P |
unknown |
Het |
| Hps4 |
T |
G |
5: 112,517,977 (GRCm39) |
C323W |
probably benign |
Het |
| Ing3 |
A |
G |
6: 21,952,181 (GRCm39) |
K52E |
probably damaging |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Krt4 |
T |
A |
15: 101,828,724 (GRCm39) |
N380I |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,441,715 (GRCm39) |
C174S |
probably damaging |
Het |
| Lrrc8e |
T |
C |
8: 4,285,575 (GRCm39) |
I600T |
probably benign |
Het |
| Malt1 |
T |
C |
18: 65,582,680 (GRCm39) |
|
probably null |
Het |
| Mindy1 |
T |
C |
3: 95,202,122 (GRCm39) |
L333P |
probably damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,682 (GRCm39) |
S77P |
probably damaging |
Het |
| Mtus2 |
G |
T |
5: 148,013,713 (GRCm39) |
E169* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,415,765 (GRCm39) |
T2904A |
possibly damaging |
Het |
| Noxa1 |
C |
T |
2: 24,982,553 (GRCm39) |
|
probably null |
Het |
| Ogfod3 |
G |
A |
11: 121,095,376 (GRCm39) |
R5W |
probably damaging |
Het |
| Or4f59 |
T |
A |
2: 111,872,982 (GRCm39) |
I132F |
probably damaging |
Het |
| Or7g35 |
T |
A |
9: 19,496,020 (GRCm39) |
F62L |
probably benign |
Het |
| Or9i16 |
A |
G |
19: 13,864,753 (GRCm39) |
S274P |
probably damaging |
Het |
| Pgm3 |
C |
A |
9: 86,446,828 (GRCm39) |
R230L |
probably benign |
Het |
| Plpbp |
A |
G |
8: 27,536,069 (GRCm39) |
I121V |
unknown |
Het |
| Prl8a9 |
T |
C |
13: 27,743,355 (GRCm39) |
D150G |
probably benign |
Het |
| Psapl1 |
A |
G |
5: 36,362,919 (GRCm39) |
N504D |
probably benign |
Het |
| Ptchd4 |
A |
C |
17: 42,814,066 (GRCm39) |
N656H |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,741,532 (GRCm39) |
Y577* |
probably null |
Het |
| Rasgef1c |
A |
G |
11: 49,858,228 (GRCm39) |
Y263C |
probably damaging |
Het |
| Rinl |
A |
G |
7: 28,490,014 (GRCm39) |
|
probably null |
Het |
| Scd4 |
T |
C |
19: 44,325,945 (GRCm39) |
F100L |
probably benign |
Het |
| Scgb2b20 |
T |
G |
7: 33,063,969 (GRCm39) |
R100S |
probably benign |
Het |
| Scn8a |
C |
T |
15: 100,927,718 (GRCm39) |
A1399V |
probably benign |
Het |
| Slc22a7 |
A |
G |
17: 46,747,756 (GRCm39) |
V267A |
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,372,440 (GRCm39) |
E263G |
possibly damaging |
Het |
| Slmap |
A |
G |
14: 26,143,703 (GRCm39) |
L728P |
probably damaging |
Het |
| Smarcb1 |
A |
T |
10: 75,745,986 (GRCm39) |
|
probably null |
Het |
| Sspn |
T |
C |
6: 145,901,361 (GRCm39) |
V80A |
possibly damaging |
Het |
| Tasor2 |
A |
T |
13: 3,619,516 (GRCm39) |
D2238E |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,195,399 (GRCm39) |
T581A |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,669,501 (GRCm39) |
F1341S |
probably benign |
Het |
| Trac |
T |
C |
14: 54,460,557 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
T |
C |
11: 87,109,093 (GRCm39) |
F940S |
possibly damaging |
Het |
| Trpa1 |
T |
C |
1: 14,974,490 (GRCm39) |
T231A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,529 (GRCm39) |
I23455V |
probably benign |
Het |
| Wap |
G |
T |
11: 6,586,724 (GRCm39) |
T125K |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Zfp85 |
T |
C |
13: 67,896,893 (GRCm39) |
D393G |
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 |
|
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 |
|
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'- AGAGAATGTGGTTTTGGCCC -3'
(R):5'- CCAATATACAAGAAGGCAGTTTGGG -3'
Sequencing Primer
(F):5'- GGCCCTGAATTTGTTACTCATTTAC -3'
(R):5'- TTACAGGTTCAGAGGGTCAATCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation