Incidental Mutation 'R0445:Themis'
ID |
39323 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Themis
|
Ensembl Gene |
ENSMUSG00000049109 |
Gene Name |
thymocyte selection associated |
Synonyms |
Tsepa, Gasp, E430004N04Rik |
MMRRC Submission |
038646-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R0445 (G1)
|
Quality Score |
125 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28658007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 192
(R192G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000060409]
[ENSMUST00000105516]
[ENSMUST00000159927]
[ENSMUST00000161345]
|
AlphaFold |
Q8BGW0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056097
AA Change: R345G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060129 Gene: ENSMUSG00000049109 AA Change: R345G
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 damaging
Transcript: ENSMUST00000060409
AA Change: R345G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055315 Gene: ENSMUSG00000049109 AA Change: R345G
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 damaging
Transcript: ENSMUST00000105516
AA Change: R345G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101155 Gene: ENSMUSG00000049109 AA Change: R345G
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 damaging
Transcript: ENSMUST00000161345
AA Change: R192G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123894 Gene: ENSMUSG00000049109 AA Change: R192G
Domain | Start | End | E-Value | Type |
Pfam:CABIT
|
17 |
86 |
1.9e-9 |
PFAM |
Pfam:CABIT
|
129 |
203 |
5.1e-18 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
Validation Efficiency |
100% (77/77) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
A |
C |
17: 48,400,542 (GRCm39) |
|
probably null |
Het |
A2m |
C |
T |
6: 121,634,914 (GRCm39) |
T687I |
probably damaging |
Het |
Acsbg1 |
A |
G |
9: 54,523,179 (GRCm39) |
S483P |
probably damaging |
Het |
Adam22 |
T |
A |
5: 8,230,591 (GRCm39) |
|
probably benign |
Het |
Aggf1 |
A |
G |
13: 95,490,509 (GRCm39) |
V595A |
possibly damaging |
Het |
Aplf |
A |
T |
6: 87,640,734 (GRCm39) |
L71I |
probably damaging |
Het |
Arid3c |
G |
T |
4: 41,725,172 (GRCm39) |
P292T |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,054,214 (GRCm39) |
V3111A |
probably damaging |
Het |
Brms1l |
T |
A |
12: 55,908,191 (GRCm39) |
Y213* |
probably null |
Het |
C87436 |
T |
A |
6: 86,426,832 (GRCm39) |
S332T |
possibly damaging |
Het |
Cad |
G |
A |
5: 31,230,053 (GRCm39) |
A1454T |
probably benign |
Het |
Cdkn3 |
T |
C |
14: 47,004,857 (GRCm39) |
|
probably null |
Het |
Cnot1 |
A |
G |
8: 96,486,836 (GRCm39) |
C624R |
probably damaging |
Het |
Cntnap5c |
A |
T |
17: 58,411,738 (GRCm39) |
I541F |
probably benign |
Het |
Dennd1b |
A |
G |
1: 139,095,503 (GRCm39) |
|
probably benign |
Het |
Dscam |
A |
T |
16: 96,573,703 (GRCm39) |
I753N |
probably damaging |
Het |
Eef2 |
C |
CN |
10: 81,014,604 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
A |
18: 78,057,399 (GRCm39) |
V1826D |
possibly damaging |
Het |
Epha8 |
T |
C |
4: 136,659,711 (GRCm39) |
Y755C |
probably damaging |
Het |
Esco1 |
A |
T |
18: 10,574,989 (GRCm39) |
N694K |
probably damaging |
Het |
Fermt3 |
T |
C |
19: 6,980,667 (GRCm39) |
H300R |
probably benign |
Het |
Galnt5 |
C |
A |
2: 57,888,962 (GRCm39) |
F187L |
probably benign |
Het |
Gm17067 |
A |
G |
7: 42,358,046 (GRCm39) |
I152T |
probably benign |
Het |
Gnb3 |
T |
C |
6: 124,814,218 (GRCm39) |
D154G |
possibly damaging |
Het |
Gpr155 |
G |
A |
2: 73,200,488 (GRCm39) |
|
probably benign |
Het |
Hdac3 |
A |
G |
18: 38,076,777 (GRCm39) |
I240T |
probably damaging |
Het |
Ifitm1 |
A |
T |
7: 140,548,354 (GRCm39) |
|
probably null |
Het |
Kif1b |
A |
T |
4: 149,272,466 (GRCm39) |
L1455Q |
probably benign |
Het |
Krt1 |
A |
C |
15: 101,756,056 (GRCm39) |
L388R |
probably damaging |
Het |
Lrp1 |
T |
A |
10: 127,426,505 (GRCm39) |
K635* |
probably null |
Het |
Map3k2 |
A |
G |
18: 32,350,263 (GRCm39) |
Y371C |
probably damaging |
Het |
Mcu |
T |
C |
10: 59,292,467 (GRCm39) |
|
probably benign |
Het |
Mkrn1 |
C |
T |
6: 39,381,788 (GRCm39) |
V167I |
probably benign |
Het |
Mrpl9 |
T |
A |
3: 94,352,198 (GRCm39) |
|
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,395 (GRCm39) |
Y547C |
possibly damaging |
Het |
Nup88 |
G |
A |
11: 70,838,555 (GRCm39) |
T487I |
probably benign |
Het |
Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,890,161 (GRCm39) |
R7457H |
unknown |
Het |
Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
Or2y13 |
T |
A |
11: 49,414,784 (GRCm39) |
V78E |
probably damaging |
Het |
Paf1 |
T |
C |
7: 28,095,113 (GRCm39) |
S118P |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,840,205 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
A |
T |
10: 74,178,381 (GRCm39) |
Y157F |
probably damaging |
Het |
Pex10 |
G |
A |
4: 155,153,531 (GRCm39) |
|
probably null |
Het |
Phrf1 |
C |
T |
7: 140,827,244 (GRCm39) |
|
probably benign |
Het |
Polr3a |
G |
T |
14: 24,504,989 (GRCm39) |
D1090E |
probably benign |
Het |
Ppfia4 |
A |
C |
1: 134,255,027 (GRCm39) |
L276R |
probably benign |
Het |
Rdh16f1 |
T |
C |
10: 127,626,736 (GRCm39) |
L263S |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,696,399 (GRCm39) |
D967G |
probably benign |
Het |
Shc1 |
G |
T |
3: 89,333,844 (GRCm39) |
A226S |
probably damaging |
Het |
Slc4a1 |
A |
G |
11: 102,245,192 (GRCm39) |
V585A |
probably benign |
Het |
Stk38l |
T |
A |
6: 146,677,184 (GRCm39) |
S461T |
probably benign |
Het |
Tbkbp1 |
A |
T |
11: 97,040,295 (GRCm39) |
S40T |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,715,720 (GRCm39) |
M25T |
probably benign |
Het |
Tmem144 |
T |
C |
3: 79,732,661 (GRCm39) |
T206A |
probably benign |
Het |
Tmem74b |
G |
A |
2: 151,548,879 (GRCm39) |
R202H |
probably damaging |
Het |
Trpm1 |
T |
C |
7: 63,894,590 (GRCm39) |
|
probably benign |
Het |
Vars1 |
A |
G |
17: 35,230,785 (GRCm39) |
H557R |
probably benign |
Het |
Zbtb12 |
C |
A |
17: 35,115,277 (GRCm39) |
A354E |
possibly damaging |
Het |
Zfp143 |
A |
T |
7: 109,660,324 (GRCm39) |
|
probably benign |
Het |
Zftraf1 |
T |
C |
15: 76,532,457 (GRCm39) |
H217R |
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 |
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 |
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'- TTCAGTTGCTGTCTACGGACGACC -3'
(R):5'- CCTGACTTGAAGTAGCCCTGCATC -3'
Sequencing Primer
(F):5'- CGGACGACCTTTTTGAAATGACC -3'
(R):5'- AGGAAGCTGTGCATCTTCAC -3'
|
Posted On |
2013-05-23 |