Incidental Mutation 'R0507:Themis'
ID |
47673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Themis
|
Ensembl Gene |
ENSMUSG00000049109 |
Gene Name |
thymocyte selection associated |
Synonyms |
Tsepa, Gasp, E430004N04Rik |
MMRRC Submission |
038702-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R0507 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28657828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 132
(V132E)
|
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: V285E
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000060129 Gene: ENSMUSG00000049109 AA Change: V285E
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: V285E
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000055315 Gene: ENSMUSG00000049109 AA Change: V285E
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: V285E
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000101155 Gene: ENSMUSG00000049109 AA Change: V285E
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: V132E
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000123894 Gene: ENSMUSG00000049109 AA Change: V132E
Domain | Start | End | E-Value | Type |
Pfam:CABIT
|
17 |
86 |
1.9e-9 |
PFAM |
Pfam:CABIT
|
129 |
203 |
5.1e-18 |
PFAM |
|
Meta Mutation Damage Score |
0.1152 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (72/72) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,838,655 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,916,766 (GRCm39) |
D742G |
probably benign |
Het |
Akap9 |
G |
A |
5: 4,119,043 (GRCm39) |
E3517K |
probably benign |
Het |
Arfgef3 |
T |
C |
10: 18,467,369 (GRCm39) |
T1944A |
probably damaging |
Het |
Bsx |
A |
G |
9: 40,787,796 (GRCm39) |
|
probably benign |
Het |
Cct2 |
A |
T |
10: 116,891,151 (GRCm39) |
|
probably null |
Het |
Cdkl4 |
T |
C |
17: 80,851,237 (GRCm39) |
D155G |
probably benign |
Het |
Cep250 |
C |
T |
2: 155,834,452 (GRCm39) |
R2126C |
possibly damaging |
Het |
Cep97 |
A |
T |
16: 55,726,245 (GRCm39) |
|
probably benign |
Het |
Cpne3 |
C |
T |
4: 19,532,544 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,235,358 (GRCm39) |
|
probably benign |
Het |
Cx3cr1 |
C |
A |
9: 119,881,022 (GRCm39) |
D127Y |
probably damaging |
Het |
Dcdc2a |
A |
G |
13: 25,286,572 (GRCm39) |
Q165R |
probably damaging |
Het |
Ddx17 |
A |
G |
15: 79,421,758 (GRCm39) |
|
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,657,917 (GRCm39) |
S1886P |
probably damaging |
Het |
Egf |
T |
C |
3: 129,474,828 (GRCm39) |
D571G |
possibly damaging |
Het |
Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
Gbp2 |
G |
T |
3: 142,335,794 (GRCm39) |
D165Y |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,006,325 (GRCm39) |
N523K |
possibly damaging |
Het |
Gsap |
C |
T |
5: 21,474,961 (GRCm39) |
T540I |
possibly damaging |
Het |
Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
Icam4 |
C |
A |
9: 20,940,799 (GRCm39) |
P17Q |
possibly damaging |
Het |
Lyz1 |
A |
T |
10: 117,125,022 (GRCm39) |
|
probably null |
Het |
Matcap1 |
T |
C |
8: 106,011,351 (GRCm39) |
N261S |
probably damaging |
Het |
Mbd6 |
A |
G |
10: 127,119,389 (GRCm39) |
|
probably benign |
Het |
Mroh3 |
A |
T |
1: 136,118,718 (GRCm39) |
I533N |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,569,887 (GRCm39) |
M316L |
probably benign |
Het |
Myof |
A |
G |
19: 37,889,725 (GRCm39) |
I1282T |
possibly damaging |
Het |
Ncald |
T |
G |
15: 37,397,528 (GRCm39) |
I51L |
probably benign |
Het |
Negr1 |
T |
A |
3: 156,267,862 (GRCm39) |
S11T |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,920,167 (GRCm39) |
N6735D |
probably damaging |
Het |
Or52n4b |
T |
C |
7: 108,144,292 (GRCm39) |
S185P |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Or6c1b |
A |
T |
10: 129,273,157 (GRCm39) |
M159L |
probably benign |
Het |
Or9q1 |
T |
A |
19: 13,805,140 (GRCm39) |
I207F |
possibly damaging |
Het |
Otogl |
A |
G |
10: 107,702,601 (GRCm39) |
V684A |
possibly damaging |
Het |
Palm3 |
A |
G |
8: 84,754,958 (GRCm39) |
T157A |
probably benign |
Het |
Pard3 |
T |
A |
8: 128,097,967 (GRCm39) |
|
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,457,129 (GRCm39) |
D1302G |
probably damaging |
Het |
Pi16 |
G |
A |
17: 29,546,826 (GRCm39) |
E467K |
possibly damaging |
Het |
Plec |
A |
T |
15: 76,056,983 (GRCm39) |
I4183N |
probably damaging |
Het |
Ppp1r13l |
T |
C |
7: 19,109,739 (GRCm39) |
L720P |
possibly damaging |
Het |
Prag1 |
A |
G |
8: 36,571,277 (GRCm39) |
E620G |
probably damaging |
Het |
Ralbp1 |
G |
A |
17: 66,156,955 (GRCm39) |
T646M |
probably benign |
Het |
Rnf182 |
T |
G |
13: 43,821,823 (GRCm39) |
S125A |
probably benign |
Het |
Rpe |
C |
T |
1: 66,754,300 (GRCm39) |
T124I |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,185,875 (GRCm39) |
I514T |
probably benign |
Het |
Sec13 |
A |
T |
6: 113,712,080 (GRCm39) |
I85N |
probably damaging |
Het |
Siglec1 |
C |
T |
2: 130,916,445 (GRCm39) |
|
probably benign |
Het |
Skint5 |
T |
C |
4: 113,425,127 (GRCm39) |
|
probably null |
Het |
Slc4a3 |
T |
A |
1: 75,532,725 (GRCm39) |
I995K |
probably damaging |
Het |
Smyd4 |
T |
A |
11: 75,290,534 (GRCm39) |
S545T |
possibly damaging |
Het |
Steap3 |
C |
T |
1: 120,169,313 (GRCm39) |
R328H |
possibly damaging |
Het |
Tgm6 |
G |
A |
2: 129,980,751 (GRCm39) |
E183K |
possibly damaging |
Het |
Thsd1 |
T |
A |
8: 22,748,695 (GRCm39) |
I461N |
probably damaging |
Het |
Ttk |
T |
G |
9: 83,750,120 (GRCm39) |
S692A |
probably damaging |
Het |
Twf1 |
A |
G |
15: 94,483,411 (GRCm39) |
M99T |
probably damaging |
Het |
Uchl3 |
T |
A |
14: 101,904,443 (GRCm39) |
L89* |
probably null |
Het |
Uhmk1 |
A |
G |
1: 170,034,760 (GRCm39) |
V316A |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,567,052 (GRCm39) |
N886S |
possibly damaging |
Het |
Vash2 |
G |
T |
1: 190,699,115 (GRCm39) |
|
probably benign |
Het |
Vmn1r200 |
G |
A |
13: 22,579,718 (GRCm39) |
E174K |
probably benign |
Het |
Vps16 |
T |
C |
2: 130,279,632 (GRCm39) |
|
probably null |
Het |
Wdr73 |
T |
C |
7: 80,541,594 (GRCm39) |
E316G |
possibly damaging |
Het |
Xpo1 |
T |
C |
11: 23,244,682 (GRCm39) |
V1020A |
possibly damaging |
Het |
Ylpm1 |
T |
A |
12: 85,075,886 (GRCm39) |
N870K |
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,466,048 (GRCm39) |
Q2069* |
probably null |
Het |
Zfp1005 |
T |
A |
2: 150,110,044 (GRCm39) |
C245S |
possibly damaging |
Het |
Zfp512b |
C |
A |
2: 181,226,757 (GRCm39) |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCATTTAAGTCAGGAGAGTGCTTACCA -3'
(R):5'- GACAGCTCCTTGTGAAGTGTATGGAAA -3'
Sequencing Primer
(F):5'- TTGGAAGATTATCTCTACCCAGACAC -3'
(R):5'- TCATAGGCCGTGGGGAAC -3'
|
Posted On |
2013-06-12 |