Incidental Mutation 'R5569:Themis'
ID |
435545 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Themis
|
Ensembl Gene |
ENSMUSG00000049109 |
Gene Name |
thymocyte selection associated |
Synonyms |
Tsepa, Gasp, E430004N04Rik |
MMRRC Submission |
043126-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R5569 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 28657887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 152
(E152K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000060409]
[ENSMUST00000105516]
[ENSMUST00000159927]
[ENSMUST00000161345]
|
AlphaFold |
Q8BGW0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056097
AA Change: E305K
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000060129 Gene: ENSMUSG00000049109 AA Change: E305K
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: E305K
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000055315 Gene: ENSMUSG00000049109 AA Change: E305K
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
AA Change: E305K
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000101155 Gene: ENSMUSG00000049109 AA Change: E305K
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 |
possibly damaging
Transcript: ENSMUST00000161345
AA Change: E152K
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123894 Gene: ENSMUSG00000049109 AA Change: E152K
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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
A |
G |
5: 121,764,143 (GRCm39) |
S929P |
probably damaging |
Het |
Ackr3 |
A |
G |
1: 90,142,563 (GRCm39) |
T341A |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,760,377 (GRCm39) |
Y431C |
probably damaging |
Het |
Adamtsl2 |
G |
A |
2: 26,992,845 (GRCm39) |
V653M |
probably damaging |
Het |
Anks6 |
T |
C |
4: 47,045,007 (GRCm39) |
K300E |
probably damaging |
Het |
Ap5z1 |
A |
T |
5: 142,460,206 (GRCm39) |
D495V |
probably damaging |
Het |
Atm |
A |
T |
9: 53,427,750 (GRCm39) |
Y453* |
probably null |
Het |
Atpaf2 |
A |
T |
11: 60,307,706 (GRCm39) |
W11R |
probably damaging |
Het |
Bhmt1b |
A |
C |
18: 87,775,392 (GRCm39) |
Y305S |
probably damaging |
Het |
Capn1 |
T |
A |
19: 6,063,690 (GRCm39) |
T129S |
probably benign |
Het |
Catspere2 |
A |
T |
1: 177,939,162 (GRCm39) |
K678N |
possibly damaging |
Het |
Cdh17 |
A |
G |
4: 11,816,990 (GRCm39) |
I800M |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,724,892 (GRCm39) |
R69Q |
probably damaging |
Het |
Cp |
T |
C |
3: 20,033,041 (GRCm39) |
Y623H |
probably damaging |
Het |
Dcaf5 |
A |
T |
12: 80,386,975 (GRCm39) |
Y384N |
probably damaging |
Het |
Dhx9 |
A |
T |
1: 153,342,838 (GRCm39) |
C555S |
possibly damaging |
Het |
Dlg2 |
A |
G |
7: 91,617,388 (GRCm39) |
T317A |
probably benign |
Het |
Dsp |
C |
T |
13: 38,376,628 (GRCm39) |
T1471I |
probably benign |
Het |
Ebf1 |
A |
G |
11: 44,883,228 (GRCm39) |
M489V |
possibly damaging |
Het |
Enpp3 |
T |
C |
10: 24,654,719 (GRCm39) |
D230G |
probably damaging |
Het |
Eri3 |
T |
C |
4: 117,506,553 (GRCm39) |
M294T |
possibly damaging |
Het |
Fat1 |
T |
A |
8: 45,492,873 (GRCm39) |
V3842E |
probably damaging |
Het |
Fermt1 |
T |
A |
2: 132,757,123 (GRCm39) |
Y569F |
possibly damaging |
Het |
Fscn1 |
A |
G |
5: 142,946,799 (GRCm39) |
D199G |
probably benign |
Het |
Glce |
A |
G |
9: 61,977,485 (GRCm39) |
V133A |
probably benign |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Hk1 |
A |
G |
10: 62,122,220 (GRCm39) |
S520P |
probably benign |
Het |
Ighv12-3 |
A |
G |
12: 114,330,555 (GRCm39) |
V7A |
probably benign |
Het |
Ighv6-7 |
C |
A |
12: 114,419,476 (GRCm39) |
A43S |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,568,113 (GRCm39) |
I222V |
possibly damaging |
Het |
Kmo |
T |
A |
1: 175,482,688 (GRCm39) |
N337K |
probably benign |
Het |
Mcf2l |
C |
T |
8: 13,055,481 (GRCm39) |
R611W |
probably damaging |
Het |
Mipep |
A |
T |
14: 61,040,383 (GRCm39) |
H301L |
probably damaging |
Het |
Mprip |
A |
T |
11: 59,651,789 (GRCm39) |
E1831V |
probably damaging |
Het |
Mrgpra3 |
T |
C |
7: 47,239,759 (GRCm39) |
T56A |
probably benign |
Het |
Mtmr14 |
G |
A |
6: 113,217,246 (GRCm39) |
V53I |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,372,679 (GRCm39) |
W4056R |
probably damaging |
Het |
Myl2 |
A |
T |
5: 122,244,783 (GRCm39) |
D151V |
possibly damaging |
Het |
Myo5c |
A |
T |
9: 75,180,792 (GRCm39) |
D727V |
probably damaging |
Het |
Or10s1 |
A |
G |
9: 39,985,593 (GRCm39) |
M1V |
probably null |
Het |
Or1e22 |
A |
T |
11: 73,377,518 (GRCm39) |
I44N |
probably damaging |
Het |
Or2ag12 |
A |
T |
7: 106,277,690 (GRCm39) |
M1K |
probably null |
Het |
Or56b1b |
T |
A |
7: 108,164,772 (GRCm39) |
M77L |
probably benign |
Het |
Or9s18 |
A |
G |
13: 65,300,793 (GRCm39) |
T252A |
possibly damaging |
Het |
Pabpc1l |
C |
T |
2: 163,885,474 (GRCm39) |
T409I |
probably benign |
Het |
Pcgf1 |
C |
T |
6: 83,056,686 (GRCm39) |
R81* |
probably null |
Het |
Pcgf2 |
A |
G |
11: 97,583,193 (GRCm39) |
|
probably null |
Het |
Phf14 |
T |
A |
6: 11,934,015 (GRCm39) |
N292K |
probably damaging |
Het |
Plin4 |
T |
C |
17: 56,409,147 (GRCm39) |
T1358A |
probably benign |
Het |
Pomgnt1 |
T |
C |
4: 116,013,164 (GRCm39) |
S423P |
probably damaging |
Het |
Prep |
G |
A |
10: 44,973,533 (GRCm39) |
V214I |
probably benign |
Het |
Ptger1 |
T |
C |
8: 84,394,961 (GRCm39) |
|
probably null |
Het |
Pus7 |
C |
T |
5: 23,953,832 (GRCm39) |
G415D |
probably benign |
Het |
Rbm44 |
C |
T |
1: 91,096,460 (GRCm39) |
P940S |
probably damaging |
Het |
Ripor1 |
A |
T |
8: 106,344,147 (GRCm39) |
D427V |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,415,460 (GRCm39) |
I1884T |
probably damaging |
Het |
Rpl15-ps6 |
T |
C |
15: 52,341,624 (GRCm39) |
|
noncoding transcript |
Het |
Serinc2 |
T |
C |
4: 130,172,272 (GRCm39) |
R7G |
probably benign |
Het |
Serpina6 |
A |
C |
12: 103,620,719 (GRCm39) |
F10C |
possibly damaging |
Het |
Skint5 |
T |
A |
4: 113,545,903 (GRCm39) |
|
probably null |
Het |
Slc66a3 |
T |
A |
12: 17,045,629 (GRCm39) |
I114F |
possibly damaging |
Het |
Slc6a4 |
A |
T |
11: 76,914,081 (GRCm39) |
I544F |
possibly damaging |
Het |
Spdye4b |
T |
C |
5: 143,188,176 (GRCm39) |
M223T |
probably benign |
Het |
Tbc1d17 |
A |
T |
7: 44,497,755 (GRCm39) |
V39D |
probably damaging |
Het |
Thbs3 |
T |
A |
3: 89,126,770 (GRCm39) |
Y295N |
probably damaging |
Het |
Tmem131 |
A |
T |
1: 36,838,419 (GRCm39) |
I1502N |
probably benign |
Het |
Tmem43 |
T |
A |
6: 91,454,336 (GRCm39) |
M41K |
probably benign |
Het |
Tmprss6 |
A |
C |
15: 78,324,503 (GRCm39) |
W771G |
probably damaging |
Het |
Trp53tg5 |
T |
C |
2: 164,313,256 (GRCm39) |
T140A |
probably benign |
Het |
Uchl1 |
A |
G |
5: 66,844,216 (GRCm39) |
E206G |
probably damaging |
Het |
Vash2 |
A |
G |
1: 190,692,488 (GRCm39) |
V229A |
possibly damaging |
Het |
Vmn1r192 |
C |
A |
13: 22,371,384 (GRCm39) |
A279S |
possibly damaging |
Het |
Vmn1r32 |
T |
C |
6: 66,530,156 (GRCm39) |
R207G |
probably damaging |
Het |
Vmn2r14 |
T |
A |
5: 109,368,261 (GRCm39) |
M244L |
probably benign |
Het |
Vwa5b2 |
T |
A |
16: 20,414,089 (GRCm39) |
H236Q |
probably damaging |
Het |
Zfp652 |
C |
T |
11: 95,640,116 (GRCm39) |
P14S |
probably benign |
Het |
Zfp668 |
G |
A |
7: 127,466,995 (GRCm39) |
R194* |
probably null |
Het |
Zgrf1 |
G |
T |
3: 127,354,674 (GRCm39) |
V98L |
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 |
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'- GTCCGGATTCTCCCAAGTTTAGAC -3'
(R):5'- TATGGAAAGCTTTGGTGGCCAC -3'
Sequencing Primer
(F):5'- CTCCCAAGTTTAGACGTTGAAGTC -3'
(R):5'- ACCACGTGGAGAGTTTCTTTC -3'
|
Posted On |
2016-10-24 |