Incidental Mutation 'R0709:Themis'
ID |
216230 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Themis
|
Ensembl Gene |
ENSMUSG00000049109 |
Gene Name |
thymocyte selection associated |
Synonyms |
Tsepa, Gasp, E430004N04Rik |
MMRRC Submission |
038892-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R0709 (G1)
|
Quality Score |
72 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28637570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 225
(I225V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101155
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000060409]
[ENSMUST00000105516]
[ENSMUST00000159927]
[ENSMUST00000161345]
|
AlphaFold |
Q8BGW0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056097
AA Change: I225V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000060129 Gene: ENSMUSG00000049109 AA Change: I225V
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: I225V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000055315 Gene: ENSMUSG00000049109 AA Change: I225V
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: I225V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101155 Gene: ENSMUSG00000049109 AA Change: I225V
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 |
noncoding transcript
Transcript: ENSMUST00000162343
|
Meta Mutation Damage Score |
0.0768 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
98% (83/85) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
A |
T |
16: 14,436,358 (GRCm39) |
D137V |
probably damaging |
Het |
Aar2 |
C |
T |
2: 156,408,930 (GRCm39) |
P378L |
probably damaging |
Het |
Abcc5 |
A |
T |
16: 20,195,342 (GRCm39) |
H718Q |
possibly damaging |
Het |
Ace |
G |
T |
11: 105,872,364 (GRCm39) |
L319F |
probably damaging |
Het |
Angpt4 |
C |
A |
2: 151,776,434 (GRCm39) |
P321T |
possibly damaging |
Het |
Atrip |
T |
C |
9: 108,896,171 (GRCm39) |
N282S |
probably benign |
Het |
AW554918 |
A |
C |
18: 25,596,711 (GRCm39) |
S525R |
probably damaging |
Het |
Ccdc136 |
T |
A |
6: 29,414,969 (GRCm39) |
I644N |
possibly damaging |
Het |
Ccdc178 |
A |
G |
18: 22,200,719 (GRCm39) |
Y413H |
probably damaging |
Het |
Ccdc7b |
A |
G |
8: 129,863,127 (GRCm39) |
H223R |
probably benign |
Het |
Cd109 |
T |
C |
9: 78,579,260 (GRCm39) |
V634A |
possibly damaging |
Het |
Col7a1 |
T |
A |
9: 108,790,616 (GRCm39) |
|
probably benign |
Het |
Copb2 |
A |
T |
9: 98,445,220 (GRCm39) |
|
probably benign |
Het |
Csrnp3 |
C |
T |
2: 65,852,907 (GRCm39) |
S445L |
probably damaging |
Het |
Cxcl13 |
G |
T |
5: 96,106,530 (GRCm39) |
C34F |
probably damaging |
Het |
Dars2 |
T |
C |
1: 160,874,498 (GRCm39) |
E397G |
probably benign |
Het |
Dlg5 |
C |
T |
14: 24,196,323 (GRCm39) |
V1625M |
probably damaging |
Het |
Dnah12 |
T |
G |
14: 26,606,222 (GRCm39) |
|
probably benign |
Het |
Eif4a1 |
C |
A |
11: 69,561,078 (GRCm39) |
A76S |
probably damaging |
Het |
Fam162b |
T |
A |
10: 51,463,347 (GRCm39) |
I107L |
probably damaging |
Het |
Fbxo30 |
G |
T |
10: 11,167,057 (GRCm39) |
C593F |
possibly damaging |
Het |
Fut9 |
A |
G |
4: 25,620,359 (GRCm39) |
F152L |
probably damaging |
Het |
Galnt2 |
G |
A |
8: 125,070,085 (GRCm39) |
G534D |
probably benign |
Het |
Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
Golm2 |
T |
A |
2: 121,697,906 (GRCm39) |
V74E |
probably damaging |
Het |
Gprc5a |
T |
A |
6: 135,055,948 (GRCm39) |
S132T |
probably damaging |
Het |
Hk3 |
G |
A |
13: 55,162,543 (GRCm39) |
R47C |
probably damaging |
Het |
Hrnr |
A |
T |
3: 93,239,815 (GRCm39) |
Q3351L |
unknown |
Het |
Icam1 |
T |
A |
9: 20,930,423 (GRCm39) |
F92L |
probably damaging |
Het |
Ifi213 |
C |
T |
1: 173,417,366 (GRCm39) |
V349I |
possibly damaging |
Het |
Il12rb2 |
T |
C |
6: 67,275,888 (GRCm39) |
|
probably benign |
Het |
Irx3 |
A |
G |
8: 92,526,048 (GRCm39) |
V487A |
possibly damaging |
Het |
Kalrn |
A |
G |
16: 33,855,924 (GRCm39) |
V204A |
probably damaging |
Het |
Krt16 |
T |
C |
11: 100,137,280 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
G |
A |
18: 77,492,665 (GRCm39) |
V1369I |
probably benign |
Het |
Med13 |
T |
A |
11: 86,210,422 (GRCm39) |
K573N |
possibly damaging |
Het |
Mnat1 |
A |
G |
12: 73,234,962 (GRCm39) |
R204G |
possibly damaging |
Het |
Myt1l |
A |
T |
12: 29,877,732 (GRCm39) |
D461V |
unknown |
Het |
Nek6 |
T |
A |
2: 38,447,858 (GRCm39) |
S41T |
probably damaging |
Het |
Nudt22 |
T |
C |
19: 6,970,874 (GRCm39) |
E232G |
probably damaging |
Het |
Numbl |
C |
A |
7: 26,973,415 (GRCm39) |
F192L |
probably damaging |
Het |
Or4c105 |
C |
T |
2: 88,648,226 (GRCm39) |
T237I |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,899,422 (GRCm39) |
I46K |
probably damaging |
Het |
P2rx4 |
T |
C |
5: 122,852,467 (GRCm39) |
V47A |
probably damaging |
Het |
Phka1 |
T |
A |
X: 101,629,710 (GRCm39) |
I478F |
probably damaging |
Het |
Pkn2 |
G |
A |
3: 142,536,281 (GRCm39) |
T200I |
probably damaging |
Het |
Plcg1 |
T |
A |
2: 160,593,698 (GRCm39) |
|
probably null |
Het |
Polg2 |
C |
T |
11: 106,659,239 (GRCm39) |
G425R |
probably damaging |
Het |
Ptprm |
G |
T |
17: 67,251,327 (GRCm39) |
|
probably null |
Het |
Reg1 |
G |
A |
6: 78,405,101 (GRCm39) |
R108H |
possibly damaging |
Het |
Slc19a2 |
T |
A |
1: 164,084,367 (GRCm39) |
F86I |
probably damaging |
Het |
Slc26a11 |
T |
C |
11: 119,265,603 (GRCm39) |
L372P |
probably damaging |
Het |
Slc2a4 |
C |
T |
11: 69,836,985 (GRCm39) |
V28M |
possibly damaging |
Het |
Snap29 |
A |
G |
16: 17,224,012 (GRCm39) |
N9S |
probably damaging |
Het |
Snd1 |
C |
G |
6: 28,545,469 (GRCm39) |
|
probably benign |
Het |
Sorcs3 |
G |
A |
19: 48,475,845 (GRCm39) |
A235T |
probably benign |
Het |
Sp100 |
T |
A |
1: 85,622,002 (GRCm39) |
N362K |
probably damaging |
Het |
Sqor |
A |
T |
2: 122,641,775 (GRCm39) |
I32F |
probably benign |
Het |
Stx6 |
C |
T |
1: 155,069,040 (GRCm39) |
R189C |
probably damaging |
Het |
Tchp |
T |
C |
5: 114,855,514 (GRCm39) |
I298T |
probably damaging |
Het |
Timm50 |
A |
T |
7: 28,006,366 (GRCm39) |
V245E |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,908,328 (GRCm39) |
E1327G |
probably damaging |
Het |
Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
Tradd |
T |
C |
8: 105,987,276 (GRCm39) |
E10G |
possibly damaging |
Het |
Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,729,747 (GRCm39) |
|
probably benign |
Het |
Ttr |
A |
T |
18: 20,803,034 (GRCm39) |
|
probably null |
Het |
Ubp1 |
A |
G |
9: 113,773,999 (GRCm39) |
Y66C |
probably damaging |
Het |
Vmn2r102 |
A |
T |
17: 19,897,881 (GRCm39) |
M299L |
probably benign |
Het |
Vmn2r104 |
A |
T |
17: 20,263,166 (GRCm39) |
N98K |
probably damaging |
Het |
Yipf5 |
A |
G |
18: 40,340,825 (GRCm39) |
S176P |
probably benign |
Het |
Zpbp2 |
C |
T |
11: 98,444,763 (GRCm39) |
T97I |
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 |
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'- ATCAGAGCCACTCATTTACTTTGCCATT -3'
(R):5'- AAGACAGTGCTATCTGTGGTTGGATGTA -3'
Sequencing Primer
(F):5'- CTTTGCCATTGTCACAAGAAGGAG -3'
(R):5'- ATCGATGGAGAACCTAAGTCTAAG -3'
|
Posted On |
2014-07-31 |