Incidental Mutation 'R7386:Themis'
| ID |
573104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Themis
|
| Ensembl Gene |
ENSMUSG00000049109 |
| Gene Name |
thymocyte selection associated |
| Synonyms |
Tsepa, Gasp, E430004N04Rik |
| MMRRC Submission |
045468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R7386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28665743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 602
(D602G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000060409]
[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 benign
Transcript: ENSMUST00000060409
AA Change: D602G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000055315
Gene: ENSMUSG00000049109
AA Change: D602G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101155
Gene: ENSMUSG00000049109
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| 4930546C10Rik |
A |
T |
18: 69,083,208 (GRCm39) |
M2K |
unknown |
Het |
| Ablim3 |
T |
C |
18: 61,955,065 (GRCm39) |
D308G |
probably damaging |
Het |
| Adamts17 |
A |
T |
7: 66,618,597 (GRCm39) |
K370N |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,015,784 (GRCm39) |
Y435C |
probably damaging |
Het |
| Adgb |
A |
T |
10: 10,253,693 (GRCm39) |
F1216I |
possibly damaging |
Het |
| Akr1a1 |
G |
A |
4: 116,498,251 (GRCm39) |
T98I |
probably damaging |
Het |
| Alyref2 |
G |
T |
1: 171,331,101 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,658,079 (GRCm39) |
H168Q |
unknown |
Het |
| Bnc1 |
A |
C |
7: 81,624,240 (GRCm39) |
L329R |
possibly damaging |
Het |
| Btaf1 |
G |
A |
19: 36,935,782 (GRCm39) |
A191T |
probably benign |
Het |
| Carmil3 |
T |
G |
14: 55,735,204 (GRCm39) |
|
probably null |
Het |
| Cd200r1 |
C |
A |
16: 44,610,211 (GRCm39) |
D143E |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,699,507 (GRCm39) |
H98R |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,205,831 (GRCm39) |
Q3346L |
probably damaging |
Het |
| Cpne4 |
T |
A |
9: 104,749,939 (GRCm39) |
V81E |
possibly damaging |
Het |
| Ctnnd2 |
T |
A |
15: 30,966,914 (GRCm39) |
M955K |
probably damaging |
Het |
| Ctsj |
A |
T |
13: 61,148,373 (GRCm39) |
M307K |
possibly damaging |
Het |
| Ddhd2 |
G |
T |
8: 26,244,318 (GRCm39) |
R103S |
possibly damaging |
Het |
| Depdc5 |
A |
G |
5: 33,085,280 (GRCm39) |
T700A |
probably benign |
Het |
| Dhx57 |
A |
C |
17: 80,575,006 (GRCm39) |
D657E |
possibly damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,713,965 (GRCm39) |
G1678S |
unknown |
Het |
| Dnajb1 |
A |
G |
8: 84,336,932 (GRCm39) |
D234G |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,174,983 (GRCm39) |
V431M |
possibly damaging |
Het |
| Evi5 |
C |
A |
5: 107,957,689 (GRCm39) |
|
probably null |
Het |
| Exoc2 |
T |
C |
13: 31,090,646 (GRCm39) |
|
probably null |
Het |
| Foxo3 |
T |
C |
10: 42,073,356 (GRCm39) |
D387G |
probably benign |
Het |
| Gda |
A |
G |
19: 21,387,250 (GRCm39) |
I325T |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,375,790 (GRCm39) |
S1362P |
probably damaging |
Het |
| Klf10 |
G |
T |
15: 38,297,193 (GRCm39) |
N282K |
possibly damaging |
Het |
| Mettl13 |
A |
G |
1: 162,375,723 (GRCm39) |
Y35H |
probably damaging |
Het |
| Mill2 |
A |
G |
7: 18,592,215 (GRCm39) |
T279A |
probably benign |
Het |
| Ncaph2 |
G |
A |
15: 89,254,459 (GRCm39) |
W386* |
probably null |
Het |
| Nploc4 |
A |
T |
11: 120,299,707 (GRCm39) |
S338T |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,090,775 (GRCm39) |
S261G |
probably damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,227 (GRCm39) |
F183S |
possibly damaging |
Het |
| Or5al1 |
A |
G |
2: 85,989,874 (GRCm39) |
V280A |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,677 (GRCm39) |
M1K |
probably null |
Het |
| Palld |
A |
G |
8: 61,985,086 (GRCm39) |
F1060L |
unknown |
Het |
| Pfas |
C |
G |
11: 68,894,600 (GRCm39) |
V22L |
probably benign |
Het |
| Pygo2 |
T |
G |
3: 89,340,128 (GRCm39) |
F175L |
probably benign |
Het |
| Rnf2 |
T |
C |
1: 151,347,131 (GRCm39) |
E316G |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,657,772 (GRCm39) |
M642K |
probably damaging |
Het |
| Saa3 |
A |
G |
7: 46,364,347 (GRCm39) |
C60R |
unknown |
Het |
| Saxo5 |
A |
G |
8: 3,537,079 (GRCm39) |
K475R |
probably benign |
Het |
| Scap |
A |
G |
9: 110,202,237 (GRCm39) |
T202A |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,370,894 (GRCm39) |
D562V |
probably damaging |
Het |
| Slc6a19 |
A |
T |
13: 73,838,010 (GRCm39) |
V163E |
possibly damaging |
Het |
| Smc5 |
G |
A |
19: 23,192,539 (GRCm39) |
H850Y |
possibly damaging |
Het |
| Spef1l |
A |
T |
7: 139,555,965 (GRCm39) |
C225* |
probably null |
Het |
| Sqle |
G |
A |
15: 59,202,603 (GRCm39) |
R519Q |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,908,585 (GRCm39) |
Y533H |
probably benign |
Het |
| Thbs2 |
A |
G |
17: 14,893,412 (GRCm39) |
S923P |
possibly damaging |
Het |
| Tmem132c |
A |
G |
5: 127,640,990 (GRCm39) |
K1054E |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,612,780 (GRCm39) |
C313S |
probably benign |
Het |
| Top6bl |
G |
A |
19: 4,713,586 (GRCm39) |
R285* |
probably null |
Het |
| Tpm1 |
T |
C |
9: 66,935,449 (GRCm39) |
I284M |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,964,064 (GRCm39) |
L722H |
possibly damaging |
Het |
| Trub2 |
T |
G |
2: 29,676,607 (GRCm39) |
Q41P |
probably benign |
Het |
| Usp17le |
A |
C |
7: 104,417,514 (GRCm39) |
|
probably null |
Het |
| Zfp398 |
G |
A |
6: 47,835,884 (GRCm39) |
V148I |
probably benign |
Het |
| Zfp40 |
T |
C |
17: 23,395,981 (GRCm39) |
E202G |
probably damaging |
Het |
| Zfp618 |
T |
A |
4: 63,013,622 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
T |
A |
7: 6,308,949 (GRCm39) |
I539N |
possibly damaging |
Het |
| Zfp738 |
A |
T |
13: 67,818,369 (GRCm39) |
C541S |
probably 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 |
|
|
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'- GCCACCGGTCAGTTAAGAAC -3'
(R):5'- GACACATTAGAGGCATGGATTTG -3'
Sequencing Primer
(F):5'- ACCGGTCAGTTAAGAACACTATG -3'
(R):5'- CTCCAGTTGCATGGAATGTAAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation