Incidental Mutation 'IGL02582:Themis'
| ID |
299406 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Themis
|
| Ensembl Gene |
ENSMUSG00000049109 |
| Gene Name |
thymocyte selection associated |
| Synonyms |
Tsepa, Gasp, E430004N04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
IGL02582
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28637543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 216
(F216L)
|
| 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: F216L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000060129
Gene: ENSMUSG00000049109
AA Change: F216L
| 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: F216L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000055315
Gene: ENSMUSG00000049109
AA Change: F216L
| 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: F216L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101155
Gene: ENSMUSG00000049109
AA Change: F216L
| 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
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
A |
9: 53,506,045 (GRCm39) |
I92F |
probably benign |
Het |
| Actr3b |
A |
G |
5: 26,037,411 (GRCm39) |
I208V |
probably benign |
Het |
| Car12 |
T |
C |
9: 66,621,159 (GRCm39) |
V10A |
probably benign |
Het |
| Ccdc171 |
C |
A |
4: 83,661,255 (GRCm39) |
R1122S |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,742,539 (GRCm39) |
V136A |
probably damaging |
Het |
| Cilp2 |
G |
T |
8: 70,333,936 (GRCm39) |
Q1021K |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,020,247 (GRCm39) |
T206N |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,141 (GRCm39) |
I2328K |
possibly damaging |
Het |
| Ctns |
A |
G |
11: 73,087,478 (GRCm39) |
F16S |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,453,172 (GRCm39) |
K276E |
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,294,840 (GRCm39) |
Q118L |
probably benign |
Het |
| Elf1 |
T |
C |
14: 79,773,819 (GRCm39) |
L10P |
probably damaging |
Het |
| Exosc5 |
T |
C |
7: 25,364,988 (GRCm39) |
|
probably null |
Het |
| Fam163b |
C |
T |
2: 27,003,570 (GRCm39) |
C28Y |
probably damaging |
Het |
| Fam180a |
G |
T |
6: 35,290,647 (GRCm39) |
A112E |
possibly damaging |
Het |
| Fam3b |
A |
T |
16: 97,272,391 (GRCm39) |
Y89* |
probably null |
Het |
| Gcg |
C |
T |
2: 62,308,922 (GRCm39) |
W77* |
probably null |
Het |
| Gm17472 |
G |
A |
6: 42,957,832 (GRCm39) |
V34I |
possibly damaging |
Het |
| Klhl23 |
T |
A |
2: 69,654,582 (GRCm39) |
C151S |
probably damaging |
Het |
| Mdh1b |
T |
A |
1: 63,758,756 (GRCm39) |
I279F |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,764,701 (GRCm39) |
I375N |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,937,997 (GRCm39) |
I206N |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,821,133 (GRCm39) |
E456G |
possibly damaging |
Het |
| Nat8 |
G |
A |
6: 85,807,783 (GRCm39) |
Q117* |
probably null |
Het |
| Nlrp4g |
A |
C |
9: 124,349,764 (GRCm38) |
|
noncoding transcript |
Het |
| Nmt1 |
G |
T |
11: 102,955,625 (GRCm39) |
G468C |
possibly damaging |
Het |
| Nobox |
G |
T |
6: 43,281,973 (GRCm39) |
Q367K |
possibly damaging |
Het |
| Nusap1 |
A |
G |
2: 119,479,470 (GRCm39) |
*428W |
probably null |
Het |
| Or12j4 |
T |
C |
7: 140,046,560 (GRCm39) |
F149L |
probably benign |
Het |
| Or4c126 |
G |
A |
2: 89,824,656 (GRCm39) |
M306I |
probably benign |
Het |
| Pbp2 |
T |
C |
6: 135,287,147 (GRCm39) |
I67V |
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,488,427 (GRCm39) |
M35R |
possibly damaging |
Het |
| Pkp1 |
T |
C |
1: 135,817,664 (GRCm39) |
E157G |
probably damaging |
Het |
| Pomgnt1 |
C |
T |
4: 116,015,747 (GRCm39) |
L560F |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 75,865,361 (GRCm39) |
R1446S |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,479,860 (GRCm39) |
T1137A |
probably benign |
Het |
| Sec22c |
T |
C |
9: 121,514,630 (GRCm39) |
I153V |
probably benign |
Het |
| Slc30a5 |
C |
T |
13: 100,949,155 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
T |
C |
11: 60,669,721 (GRCm39) |
S290P |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,212,612 (GRCm39) |
L261V |
probably benign |
Het |
| Stk38l |
T |
C |
6: 146,668,321 (GRCm39) |
|
probably null |
Het |
| Trmt1l |
T |
C |
1: 151,309,536 (GRCm39) |
|
probably benign |
Het |
| Usp17lb |
C |
A |
7: 104,489,937 (GRCm39) |
C330F |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,724 (GRCm39) |
L355H |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,653,341 (GRCm39) |
C82S |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation