Incidental Mutation 'R9081:Themis'
| ID |
690021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Themis
|
| Ensembl Gene |
ENSMUSG00000049109 |
| Gene Name |
thymocyte selection associated |
| Synonyms |
Tsepa, Gasp, E430004N04Rik |
| MMRRC Submission |
068900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R9081 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 28544582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000060409]
[ENSMUST00000105516]
[ENSMUST00000159927]
[ENSMUST00000161345]
[ENSMUST00000162202]
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000055315
Gene: ENSMUSG00000049109
| 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 |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162202
|
| SMART Domains |
Protein: ENSMUSP00000124451
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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (71/71) |
| 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 |
|---|
| Aaas |
A |
T |
15: 102,248,502 (GRCm39) |
V271E |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,109,162 (GRCm39) |
|
probably null |
Het |
| Abcb11 |
C |
T |
2: 69,122,388 (GRCm39) |
C365Y |
possibly damaging |
Het |
| Abcd2 |
A |
T |
15: 91,075,772 (GRCm39) |
W14R |
probably damaging |
Het |
| Acmsd |
A |
G |
1: 127,687,468 (GRCm39) |
D250G |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,985,890 (GRCm39) |
D2391E |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Cbr1 |
G |
T |
16: 93,406,994 (GRCm39) |
G237* |
probably null |
Het |
| Cdr2l |
T |
A |
11: 115,284,939 (GRCm39) |
V425E |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,704,144 (GRCm39) |
K693* |
probably null |
Het |
| Clgn |
T |
G |
8: 84,153,169 (GRCm39) |
D590E |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,291,387 (GRCm39) |
S952T |
unknown |
Het |
| Crip3 |
T |
C |
17: 46,740,959 (GRCm39) |
L90P |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,403,636 (GRCm39) |
S2969P |
probably benign |
Het |
| Dnai2 |
T |
A |
11: 114,629,493 (GRCm39) |
D173E |
probably damaging |
Het |
| Dnpep |
A |
T |
1: 75,291,060 (GRCm39) |
F257Y |
probably damaging |
Het |
| Egln2 |
A |
G |
7: 26,864,286 (GRCm39) |
V213A |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,504,415 (GRCm39) |
I106T |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,963,571 (GRCm39) |
F379L |
probably benign |
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Fpgs |
A |
T |
2: 32,577,500 (GRCm39) |
|
probably benign |
Het |
| Garnl3 |
T |
G |
2: 32,896,920 (GRCm39) |
D573A |
possibly damaging |
Het |
| Gja8 |
A |
G |
3: 96,826,676 (GRCm39) |
S329P |
probably damaging |
Het |
| Gzf1 |
T |
A |
2: 148,525,317 (GRCm39) |
|
probably benign |
Het |
| Hgs |
T |
A |
11: 120,366,076 (GRCm39) |
|
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,757,048 (GRCm39) |
I245T |
unknown |
Het |
| Ighv1-74 |
C |
A |
12: 115,766,454 (GRCm39) |
W55C |
probably damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,656,006 (GRCm39) |
K131R |
probably null |
Het |
| Kit |
A |
T |
5: 75,801,218 (GRCm39) |
M539L |
probably benign |
Het |
| Klk1 |
A |
G |
7: 43,874,952 (GRCm39) |
|
probably benign |
Het |
| Krt84 |
C |
T |
15: 101,440,814 (GRCm39) |
G126D |
unknown |
Het |
| Lama5 |
A |
T |
2: 179,833,930 (GRCm39) |
C1473* |
probably null |
Het |
| Loxl3 |
T |
C |
6: 83,025,638 (GRCm39) |
V332A |
possibly damaging |
Het |
| Mcf2l |
T |
A |
8: 13,068,697 (GRCm39) |
Y1120N |
probably damaging |
Het |
| Meioc |
G |
A |
11: 102,565,001 (GRCm39) |
V150M |
probably benign |
Het |
| Mybpc1 |
T |
G |
10: 88,389,168 (GRCm39) |
Y400S |
probably damaging |
Het |
| Ncmap |
T |
C |
4: 135,104,292 (GRCm39) |
|
probably benign |
Het |
| Noc2l |
A |
G |
4: 156,326,224 (GRCm39) |
Y437C |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,814,881 (GRCm39) |
M330L |
probably benign |
Het |
| Or10d4c |
A |
T |
9: 39,558,196 (GRCm39) |
Y58F |
probably damaging |
Het |
| Or5b113 |
C |
T |
19: 13,342,019 (GRCm39) |
T9I |
probably benign |
Het |
| P4ha1 |
T |
C |
10: 59,184,185 (GRCm39) |
Y216H |
probably damaging |
Het |
| Pamr1 |
A |
T |
2: 102,441,933 (GRCm39) |
D174V |
probably damaging |
Het |
| Pdcd1 |
C |
T |
1: 93,968,880 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
G |
15: 76,059,908 (GRCm39) |
V3343A |
probably damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,406 (GRCm39) |
I266F |
probably benign |
Het |
| Poglut2 |
T |
A |
1: 44,153,966 (GRCm39) |
Q161L |
probably benign |
Het |
| Ppp1r12b |
C |
T |
1: 134,705,085 (GRCm39) |
V868I |
probably benign |
Het |
| Ppp2r2b |
A |
T |
18: 42,781,825 (GRCm39) |
H325Q |
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,000,989 (GRCm39) |
T1481I |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,357,062 (GRCm39) |
D4204V |
|
Het |
| Rps6kl1 |
T |
C |
12: 85,185,881 (GRCm39) |
N409S |
probably damaging |
Het |
| Rundc1 |
T |
G |
11: 101,316,053 (GRCm39) |
W42G |
probably damaging |
Het |
| Sec1 |
C |
T |
7: 45,333,987 (GRCm39) |
|
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Shc2 |
T |
C |
10: 79,462,762 (GRCm39) |
|
probably null |
Het |
| Slc19a1 |
T |
C |
10: 76,877,750 (GRCm39) |
V95A |
possibly damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,762,447 (GRCm39) |
D333E |
probably damaging |
Het |
| Specc1 |
A |
C |
11: 62,010,051 (GRCm39) |
R522S |
possibly damaging |
Het |
| Syne2 |
C |
T |
12: 76,016,290 (GRCm39) |
Q3291* |
probably null |
Het |
| Taar7e |
G |
A |
10: 23,913,893 (GRCm39) |
V128I |
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,743,717 (GRCm39) |
N555S |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,964,010 (GRCm39) |
V945A |
possibly damaging |
Het |
| Tom1 |
G |
A |
8: 75,778,151 (GRCm39) |
V78I |
probably damaging |
Het |
| Usp13 |
A |
G |
3: 32,935,542 (GRCm39) |
T323A |
probably benign |
Het |
| Usp49 |
T |
C |
17: 47,984,236 (GRCm39) |
S414P |
possibly damaging |
Het |
| Vmn1r104 |
G |
A |
7: 20,268,378 (GRCm39) |
S206N |
probably damaging |
Het |
| Vps45 |
A |
T |
3: 95,940,125 (GRCm39) |
V446E |
probably benign |
Het |
| Wwc1 |
T |
C |
11: 35,782,331 (GRCm39) |
K222R |
probably benign |
Het |
| Zc3h13 |
CAGAGACCGGGACAGAAGGAGAGAC |
CAGAGAC |
14: 75,569,381 (GRCm39) |
|
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 |
|
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 |
|
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'- TGTCAGAAGGAAATGCAGCC -3'
(R):5'- ACTTACCTTCAAAGTAGATGCCTG -3'
Sequencing Primer
(F):5'- AAAAGAGCTTTACCCACTGTCTCCTG -3'
(R):5'- CCTTCAAAGTAGATGCCTGACTGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation