Incidental Mutation 'R7185:Themis'
ID |
559247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Themis
|
Ensembl Gene |
ENSMUSG00000049109 |
Gene Name |
thymocyte selection associated |
Synonyms |
Tsepa, Gasp, E430004N04Rik |
MMRRC Submission |
045237-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R7185 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 28657873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 300
(S300N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056097]
[ENSMUST00000060409]
[ENSMUST00000105516]
[ENSMUST00000159927]
[ENSMUST00000161345]
|
AlphaFold |
Q8BGW0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056097
AA Change: S300N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000060129 Gene: ENSMUSG00000049109 AA Change: S300N
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: S300N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000055315 Gene: ENSMUSG00000049109 AA Change: S300N
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: S300N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101155 Gene: ENSMUSG00000049109 AA Change: S300N
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
AA Change: S147N
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000123894 Gene: ENSMUSG00000049109 AA Change: S147N
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (63/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afmid |
T |
A |
11: 117,725,599 (GRCm39) |
D95E |
possibly damaging |
Het |
Ak7 |
A |
G |
12: 105,708,535 (GRCm39) |
E330G |
probably damaging |
Het |
B3gat2 |
A |
C |
1: 23,802,272 (GRCm39) |
D186A |
probably damaging |
Het |
Baz1a |
G |
A |
12: 55,022,093 (GRCm39) |
T63M |
probably damaging |
Het |
Bhmt2 |
A |
T |
13: 93,799,779 (GRCm39) |
M219K |
probably benign |
Het |
Cd200r1 |
A |
G |
16: 44,609,975 (GRCm39) |
T65A |
probably benign |
Het |
Cdc14a |
T |
C |
3: 116,087,676 (GRCm39) |
E494G |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,385,686 (GRCm39) |
L2198P |
probably damaging |
Het |
Col4a2 |
T |
A |
8: 11,449,739 (GRCm39) |
D117E |
probably damaging |
Het |
Ddr2 |
C |
A |
1: 169,814,623 (GRCm39) |
V607L |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,729,687 (GRCm39) |
Y763C |
probably damaging |
Het |
Ecscr |
T |
A |
18: 35,849,857 (GRCm39) |
T93S |
probably benign |
Het |
Eogt |
C |
T |
6: 97,097,139 (GRCm39) |
R321H |
probably damaging |
Het |
Fam174c |
G |
A |
10: 80,008,963 (GRCm39) |
G55E |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,784,635 (GRCm39) |
S873P |
probably damaging |
Het |
Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
Gm8247 |
A |
G |
14: 44,823,859 (GRCm39) |
I182V |
|
Het |
Gpatch2 |
T |
C |
1: 186,958,394 (GRCm39) |
S250P |
probably damaging |
Het |
Gramd1b |
T |
C |
9: 40,244,859 (GRCm39) |
D183G |
probably benign |
Het |
Hspa5 |
T |
C |
2: 34,665,138 (GRCm39) |
V433A |
probably damaging |
Het |
Igkv8-30 |
C |
A |
6: 70,094,590 (GRCm39) |
Q4H |
probably benign |
Het |
Igkv8-30 |
T |
G |
6: 70,094,591 (GRCm39) |
Q4P |
probably damaging |
Het |
Kcnj5 |
T |
G |
9: 32,233,472 (GRCm39) |
N281T |
probably damaging |
Het |
L1td1 |
A |
G |
4: 98,624,855 (GRCm39) |
E350G |
possibly damaging |
Het |
Layn |
T |
C |
9: 50,985,173 (GRCm39) |
T128A |
possibly damaging |
Het |
Liph |
T |
C |
16: 21,814,089 (GRCm39) |
M11V |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,691,524 (GRCm39) |
|
probably null |
Het |
Mcrip1 |
A |
C |
11: 120,435,505 (GRCm39) |
|
probably null |
Het |
Myh1 |
G |
A |
11: 67,098,285 (GRCm39) |
E486K |
probably damaging |
Het |
Nav1 |
T |
C |
1: 135,398,746 (GRCm39) |
K612R |
possibly damaging |
Het |
Nek10 |
A |
G |
14: 14,846,621 (GRCm38) |
K245E |
probably benign |
Het |
Nipal1 |
T |
A |
5: 72,824,198 (GRCm39) |
S181T |
probably damaging |
Het |
Nme8 |
A |
C |
13: 19,862,053 (GRCm39) |
L192R |
probably damaging |
Het |
Nol7 |
G |
A |
13: 43,560,307 (GRCm39) |
|
probably null |
Het |
Oas1b |
G |
A |
5: 120,955,837 (GRCm39) |
R205H |
not run |
Het |
Or13j1 |
A |
G |
4: 43,706,082 (GRCm39) |
I162T |
possibly damaging |
Het |
Or4f56 |
T |
G |
2: 111,704,167 (GRCm39) |
E11A |
possibly damaging |
Het |
Or5w15 |
A |
G |
2: 87,568,489 (GRCm39) |
Y60H |
probably damaging |
Het |
Pcdhgb6 |
T |
C |
18: 37,876,701 (GRCm39) |
S470P |
probably benign |
Het |
Pdzk1ip1 |
A |
T |
4: 114,946,305 (GRCm39) |
H55L |
possibly damaging |
Het |
Pibf1 |
T |
A |
14: 99,344,752 (GRCm39) |
M124K |
possibly damaging |
Het |
Prr36 |
C |
T |
8: 4,266,458 (GRCm39) |
G31R |
probably damaging |
Het |
Ptchd4 |
C |
A |
17: 42,814,079 (GRCm39) |
A660D |
probably damaging |
Het |
Qsox2 |
A |
G |
2: 26,110,718 (GRCm39) |
V166A |
possibly damaging |
Het |
Rb1cc1 |
A |
T |
1: 6,308,607 (GRCm39) |
Y164F |
probably damaging |
Het |
Rest |
C |
A |
5: 77,430,331 (GRCm39) |
H917N |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,425,073 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,315,024 (GRCm39) |
C955R |
|
Het |
Scn7a |
T |
A |
2: 66,518,139 (GRCm39) |
N1024I |
possibly damaging |
Het |
Sec11c |
T |
A |
18: 65,947,963 (GRCm39) |
D134E |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spo11 |
T |
A |
2: 172,823,985 (GRCm39) |
|
probably null |
Het |
Srd5a3 |
T |
C |
5: 76,301,419 (GRCm39) |
I216T |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,570,864 (GRCm39) |
N296S |
probably benign |
Het |
Tepsin |
T |
C |
11: 119,984,643 (GRCm39) |
D259G |
probably damaging |
Het |
Trhr2 |
T |
A |
8: 123,087,396 (GRCm39) |
T15S |
probably benign |
Het |
Uts2r |
T |
C |
11: 121,051,706 (GRCm39) |
V190A |
probably benign |
Het |
Vmn2r77 |
A |
C |
7: 86,451,035 (GRCm39) |
D307A |
probably benign |
Het |
Xpa |
G |
T |
4: 46,183,078 (GRCm39) |
T237K |
probably benign |
Het |
Zfp1006 |
A |
T |
8: 129,946,502 (GRCm39) |
C108S |
probably benign |
Het |
Zfp335 |
A |
G |
2: 164,735,164 (GRCm39) |
|
probably null |
Het |
Zfp451 |
A |
T |
1: 33,808,974 (GRCm39) |
D962E |
probably damaging |
Het |
Zfp60 |
A |
G |
7: 27,437,830 (GRCm39) |
T46A |
probably damaging |
Het |
Zfy1 |
G |
A |
Y: 725,464 (GRCm39) |
S767L |
possibly 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 |
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 |
|
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'- GTCCGGATTCTCCCAAGTTTAG -3'
(R):5'- TATGGAAAGCTTTGGTGGCCAC -3'
Sequencing Primer
(F):5'- CTCCCAAGTTTAGACGTTGAAGTC -3'
(R):5'- CTTAGCTATCTGCAGGTCATAGGC -3'
|
Posted On |
2019-06-26 |