Incidental Mutation 'R7825:Themis'
| ID |
602139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Themis
|
| Ensembl Gene |
ENSMUSG00000049109 |
| Gene Name |
thymocyte selection associated |
| Synonyms |
Tsepa, Gasp, E430004N04Rik |
| MMRRC Submission |
045879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R7825 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28658470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 499
(E499G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000060409]
[ENSMUST00000105516]
[ENSMUST00000159927]
[ENSMUST00000161345]
|
| AlphaFold |
Q8BGW0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056097
AA Change: E499G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000060129
Gene: ENSMUSG00000049109
AA Change: E499G
| 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: E499G
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000055315
Gene: ENSMUSG00000049109
AA Change: E499G
| 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: E499G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101155
Gene: ENSMUSG00000049109
AA Change: E499G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
C |
T |
4: 137,182,654 (GRCm39) |
R270C |
probably damaging |
Het |
| Adprs |
C |
A |
4: 126,215,489 (GRCm39) |
|
probably benign |
Het |
| Akp3 |
TCACCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCACCAC |
1: 87,055,489 (GRCm39) |
|
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,598,106 (GRCm39) |
H89R |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,493,485 (GRCm39) |
N540D |
probably benign |
Het |
| Cd38 |
A |
T |
5: 44,058,797 (GRCm39) |
H137L |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,473,123 (GRCm39) |
V3A |
probably benign |
Het |
| Cmya5 |
G |
T |
13: 93,234,136 (GRCm39) |
H317Q |
possibly damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,394,882 (GRCm39) |
D95V |
probably damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dcst1 |
A |
G |
3: 89,260,128 (GRCm39) |
L572P |
possibly damaging |
Het |
| Eif3e |
A |
C |
15: 43,129,667 (GRCm39) |
|
probably null |
Het |
| Ephb4 |
T |
C |
5: 137,370,699 (GRCm39) |
S911P |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,181,728 (GRCm39) |
T157A |
not run |
Het |
| Gnmt |
T |
C |
17: 47,040,019 (GRCm39) |
D20G |
probably damaging |
Het |
| Gpatch8 |
A |
C |
11: 102,372,268 (GRCm39) |
D423E |
unknown |
Het |
| Gtf3c2 |
T |
C |
5: 31,315,715 (GRCm39) |
H790R |
probably damaging |
Het |
| Hepacam |
T |
C |
9: 37,296,064 (GRCm39) |
I405T |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,286,160 (GRCm39) |
V3574E |
probably damaging |
Het |
| Ifi202b |
A |
C |
1: 173,802,616 (GRCm39) |
F73V |
probably damaging |
Het |
| Kcnb1 |
A |
T |
2: 166,947,892 (GRCm39) |
S319T |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,139,460 (GRCm39) |
D86V |
unknown |
Het |
| Krt76 |
T |
A |
15: 101,795,938 (GRCm39) |
T411S |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,194,538 (GRCm39) |
D1583V |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,377,782 (GRCm39) |
V1689D |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,114,141 (GRCm39) |
T611A |
possibly damaging |
Het |
| Nipbl |
T |
A |
15: 8,320,971 (GRCm39) |
Y2712F |
probably damaging |
Het |
| Ntng2 |
T |
A |
2: 29,094,090 (GRCm39) |
H427L |
probably benign |
Het |
| Pcdhga4 |
T |
A |
18: 37,820,374 (GRCm39) |
L641Q |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,299,340 (GRCm39) |
K623R |
probably benign |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Prcc |
T |
A |
3: 87,777,052 (GRCm39) |
E307D |
possibly damaging |
Het |
| Prss27 |
T |
C |
17: 24,261,932 (GRCm39) |
F80S |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Serpina11 |
T |
C |
12: 103,950,836 (GRCm39) |
Q295R |
probably benign |
Het |
| Sgk2 |
G |
T |
2: 162,848,801 (GRCm39) |
V284L |
possibly damaging |
Het |
| Slc15a2 |
C |
T |
16: 36,573,396 (GRCm39) |
V603I |
possibly damaging |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,190,467 (GRCm39) |
H574R |
probably damaging |
Het |
| Ston1 |
T |
C |
17: 88,943,881 (GRCm39) |
V429A |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 51,081,344 (GRCm39) |
|
probably null |
Het |
| Tesk1 |
A |
C |
4: 43,447,143 (GRCm39) |
R510S |
probably damaging |
Het |
| Thra |
G |
A |
11: 98,653,774 (GRCm39) |
V202I |
probably benign |
Het |
| Tiam1 |
A |
T |
16: 89,694,977 (GRCm39) |
M160K |
probably benign |
Het |
| Tmc1 |
T |
C |
19: 20,782,009 (GRCm39) |
I570V |
possibly damaging |
Het |
| Treml1 |
C |
A |
17: 48,673,784 (GRCm39) |
P270Q |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,523,575 (GRCm39) |
N78S |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttll3 |
AAGTA |
AAGTAGAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
| Ube3b |
T |
A |
5: 114,539,373 (GRCm39) |
L388Q |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,218 (GRCm39) |
C156* |
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,443 (GRCm39) |
C76S |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,443,197 (GRCm39) |
L12P |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,051,769 (GRCm39) |
E668G |
probably benign |
Het |
| Zfp40 |
T |
C |
17: 23,395,301 (GRCm39) |
T429A |
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 |
|
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'- CAGTATCAGATTTCCGAGCTCTG -3'
(R):5'- CTAAGCTGAGCAAGGTGAGC -3'
Sequencing Primer
(F):5'- AGATTTCCGAGCTCTGTACCCAG -3'
(R):5'- AGCAAGGTGAGCTTCATTTCC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation