Incidental Mutation 'R9170:Themis'
| ID |
696360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Themis
|
| Ensembl Gene |
ENSMUSG00000049109 |
| Gene Name |
thymocyte selection associated |
| Synonyms |
Tsepa, Gasp, E430004N04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R9170 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
28544356-28759814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 28658233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 420
(T420N)
|
| 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: T420N
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000060129
Gene: ENSMUSG00000049109
AA Change: T420N
| 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: T420N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000055315
Gene: ENSMUSG00000049109
AA Change: T420N
| 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: T420N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101155
Gene: ENSMUSG00000049109
AA Change: T420N
| 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: 99.2%
|
| Validation Efficiency |
98% (61/62) |
| 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 |
|---|
| Adam4 |
T |
C |
12: 81,466,516 (GRCm39) |
K702E |
probably benign |
Het |
| Agbl1 |
T |
C |
7: 75,985,069 (GRCm39) |
I162T |
|
Het |
| Agpat2 |
A |
T |
2: 26,487,230 (GRCm39) |
I101N |
possibly damaging |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Arhgap32 |
G |
A |
9: 32,162,039 (GRCm39) |
R330H |
possibly damaging |
Het |
| Asb4 |
T |
A |
6: 5,390,775 (GRCm39) |
I56N |
probably benign |
Het |
| Atp2a2 |
C |
T |
5: 122,604,087 (GRCm39) |
V449M |
possibly damaging |
Het |
| Bend4 |
A |
G |
5: 67,575,080 (GRCm39) |
L267P |
probably damaging |
Het |
| Catspere2 |
T |
A |
1: 177,967,949 (GRCm39) |
N745K |
probably benign |
Het |
| Celf2 |
A |
G |
2: 6,554,646 (GRCm39) |
F484L |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,241,648 (GRCm39) |
D1495G |
possibly damaging |
Het |
| Chrna3 |
A |
T |
9: 54,933,671 (GRCm39) |
V8D |
unknown |
Het |
| Cog3 |
T |
C |
14: 75,966,802 (GRCm39) |
Y466C |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,841,363 (GRCm39) |
E328G |
unknown |
Het |
| Col7a1 |
A |
G |
9: 108,785,707 (GRCm39) |
Y392C |
unknown |
Het |
| Crtc3 |
A |
T |
7: 80,248,697 (GRCm39) |
N255K |
probably damaging |
Het |
| Dnaaf1 |
T |
C |
8: 120,302,195 (GRCm39) |
I32T |
probably benign |
Het |
| Dner |
A |
T |
1: 84,512,647 (GRCm39) |
C307S |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,772,401 (GRCm39) |
K423E |
possibly damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,345,393 (GRCm39) |
S414P |
probably damaging |
Het |
| Elp4 |
T |
C |
2: 105,624,891 (GRCm39) |
E334G |
probably damaging |
Het |
| Emilin2 |
T |
A |
17: 71,587,689 (GRCm39) |
N141I |
probably benign |
Het |
| Fstl1 |
T |
A |
16: 37,647,140 (GRCm39) |
V170E |
probably damaging |
Het |
| Fxn |
A |
G |
19: 24,244,687 (GRCm39) |
I151T |
probably damaging |
Het |
| Gtf3c4 |
A |
T |
2: 28,730,214 (GRCm39) |
V9E |
possibly damaging |
Het |
| Ino80d |
A |
G |
1: 63,132,607 (GRCm39) |
S19P |
probably damaging |
Het |
| Kank3 |
T |
G |
17: 34,037,242 (GRCm39) |
L370R |
probably damaging |
Het |
| Large1 |
T |
A |
8: 73,542,645 (GRCm39) |
Y693F |
probably benign |
Het |
| Lig4 |
C |
A |
8: 10,022,202 (GRCm39) |
W526L |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,726,437 (GRCm39) |
P45S |
probably benign |
Het |
| Ndufaf6 |
T |
C |
4: 11,070,301 (GRCm39) |
K107E |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,436,291 (GRCm39) |
L1977P |
probably damaging |
Het |
| Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
| Or52s6 |
G |
A |
7: 103,091,850 (GRCm39) |
P160L |
probably damaging |
Het |
| Or52z15 |
T |
A |
7: 103,332,404 (GRCm39) |
F160I |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,258,962 (GRCm39) |
R1570Q |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,531,213 (GRCm39) |
A32T |
|
Het |
| Pclo |
A |
G |
5: 14,731,068 (GRCm39) |
Q64R |
|
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pramel21 |
T |
C |
4: 143,341,600 (GRCm39) |
S10P |
possibly damaging |
Het |
| Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
| Prf1 |
A |
C |
10: 61,136,216 (GRCm39) |
D164A |
probably damaging |
Het |
| Rarres1 |
A |
G |
3: 67,386,924 (GRCm39) |
V226A |
probably damaging |
Het |
| Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
A |
G |
9: 107,948,375 (GRCm39) |
L106P |
probably damaging |
Het |
| Scnn1b |
A |
T |
7: 121,511,326 (GRCm39) |
T338S |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc9a5 |
T |
C |
8: 106,080,139 (GRCm39) |
V94A |
probably damaging |
Het |
| Slco4a1 |
A |
G |
2: 180,106,478 (GRCm39) |
D220G |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,723,485 (GRCm39) |
Q565L |
possibly damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,269,200 (GRCm39) |
D272G |
possibly damaging |
Het |
| Tgm1 |
T |
C |
14: 55,946,355 (GRCm39) |
N427S |
probably damaging |
Het |
| Tnni3 |
A |
T |
7: 4,521,376 (GRCm39) |
F209L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,745,912 (GRCm39) |
S5046C |
probably damaging |
Het |
| Tubb2a |
T |
A |
13: 34,260,628 (GRCm39) |
I24L |
probably benign |
Het |
| Uevld |
C |
A |
7: 46,587,746 (GRCm39) |
G318V |
probably damaging |
Het |
| Unkl |
T |
C |
17: 25,448,350 (GRCm39) |
S308P |
probably benign |
Het |
| Vmn1r159 |
C |
A |
7: 22,542,765 (GRCm39) |
C89F |
probably damaging |
Het |
| Wee2 |
T |
G |
6: 40,437,977 (GRCm39) |
S302A |
probably benign |
Het |
| Ydjc |
T |
C |
16: 16,965,666 (GRCm39) |
C144R |
probably benign |
Het |
| Zc3h12c |
A |
G |
9: 52,027,419 (GRCm39) |
S667P |
probably benign |
Het |
| Zfp280b |
T |
A |
10: 75,874,651 (GRCm39) |
Y177N |
probably benign |
Het |
| Zfp354b |
C |
T |
11: 50,814,362 (GRCm39) |
E188K |
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 |
|
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 |
|
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'- TTCAAAAGAAGACCACGGGAGTTC -3'
(R):5'- GGGGTAGCTGCCAAAATGTC -3'
Sequencing Primer
(F):5'- GCCTATGACCTGCAGATAGCTAAG -3'
(R):5'- GCTGCCAAAATGTCATCTTTAATGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation