Incidental Mutation 'R4891:Themis2'
| ID |
377306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Themis2
|
| Ensembl Gene |
ENSMUSG00000037731 |
| Gene Name |
thymocyte selection associated family member 2 |
| Synonyms |
ICB-1, BC013712 |
| MMRRC Submission |
042496-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132509148-132523675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 132510668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 625
(Q625K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045154]
[ENSMUST00000102561]
|
| AlphaFold |
Q91YX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045154
AA Change: Q625K
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000036945
Gene: ENSMUSG00000037731
AA Change: Q625K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CABIT
|
18 |
242 |
1.1e-23 |
PFAM |
|
Pfam:CABIT
|
267 |
524 |
5.3e-50 |
PFAM |
|
low complexity region
|
648 |
659 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102561
|
| SMART Domains |
Protein: ENSMUSP00000099621
Gene: ENSMUSG00000028884
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
Pfam:RPA_C
|
166 |
262 |
1.7e-29 |
PFAM |
|
| Meta Mutation Damage Score |
0.0643 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal B cell development, activation, and antibody responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,166,072 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Cercam |
C |
A |
2: 29,759,283 (GRCm39) |
|
probably benign |
Het |
| Chst1 |
A |
G |
2: 92,444,337 (GRCm39) |
T270A |
possibly damaging |
Het |
| Cluh |
C |
T |
11: 74,555,885 (GRCm39) |
T816I |
possibly damaging |
Het |
| Edn3 |
A |
G |
2: 174,603,525 (GRCm39) |
H91R |
probably benign |
Het |
| Fam135a |
A |
G |
1: 24,069,409 (GRCm39) |
S487P |
probably benign |
Het |
| Galns |
T |
A |
8: 123,325,895 (GRCm39) |
D212V |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,475,570 (GRCm39) |
V582A |
possibly damaging |
Het |
| Hs3st4 |
T |
A |
7: 123,996,052 (GRCm39) |
N239K |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,276,186 (GRCm39) |
W1062* |
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,377,621 (GRCm39) |
N4110S |
probably damaging |
Het |
| Mag |
T |
C |
7: 30,599,793 (GRCm39) |
H582R |
possibly damaging |
Het |
| Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
| Ndufa5 |
A |
G |
6: 24,519,246 (GRCm39) |
V26A |
possibly damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Or13j1 |
C |
T |
4: 43,706,194 (GRCm39) |
A125T |
probably damaging |
Het |
| Or51g2 |
T |
A |
7: 102,622,759 (GRCm39) |
I147L |
probably benign |
Het |
| Or5ac24 |
T |
A |
16: 59,165,834 (GRCm39) |
T77S |
possibly damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,716,957 (GRCm39) |
H347R |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 117,196,985 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
C |
T |
1: 184,991,563 (GRCm39) |
A683V |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,249,496 (GRCm39) |
V240A |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,685 (GRCm39) |
V325E |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
C |
T |
19: 4,788,497 (GRCm39) |
R1159C |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,415 (GRCm39) |
D14G |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,208,601 (GRCm39) |
K173R |
probably damaging |
Het |
| Vcpip1 |
G |
T |
1: 9,818,287 (GRCm39) |
P32Q |
unknown |
Het |
| Vmn1r229 |
A |
T |
17: 21,035,081 (GRCm39) |
T109S |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,640,661 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
G |
1: 175,526,345 (GRCm39) |
|
probably benign |
Het |
| Wiz |
A |
G |
17: 32,576,602 (GRCm39) |
S642P |
possibly damaging |
Het |
| Zdhhc1 |
C |
T |
8: 106,199,649 (GRCm39) |
R383Q |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,060,055 (GRCm39) |
S1194P |
probably damaging |
Het |
|
| Other mutations in Themis2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02009:Themis2
|
APN |
4 |
132,512,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02192:Themis2
|
APN |
4 |
132,510,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02743:Themis2
|
APN |
4 |
132,510,795 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02934:Themis2
|
APN |
4 |
132,516,862 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0111:Themis2
|
UTSW |
4 |
132,517,236 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0598:Themis2
|
UTSW |
4 |
132,516,994 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1445:Themis2
|
UTSW |
4 |
132,510,212 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1484:Themis2
|
UTSW |
4 |
132,519,796 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1719:Themis2
|
UTSW |
4 |
132,516,960 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2076:Themis2
|
UTSW |
4 |
132,513,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3522:Themis2
|
UTSW |
4 |
132,512,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Themis2
|
UTSW |
4 |
132,513,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Themis2
|
UTSW |
4 |
132,510,287 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5331:Themis2
|
UTSW |
4 |
132,510,244 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5660:Themis2
|
UTSW |
4 |
132,523,567 (GRCm39) |
splice site |
probably null |
|
|
R6014:Themis2
|
UTSW |
4 |
132,513,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6747:Themis2
|
UTSW |
4 |
132,523,573 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6863:Themis2
|
UTSW |
4 |
132,516,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Themis2
|
UTSW |
4 |
132,513,528 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7890:Themis2
|
UTSW |
4 |
132,516,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7998:Themis2
|
UTSW |
4 |
132,519,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8847:Themis2
|
UTSW |
4 |
132,513,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9503:Themis2
|
UTSW |
4 |
132,510,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9642:Themis2
|
UTSW |
4 |
132,513,047 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTCCTGTTTGTCGCAG -3'
(R):5'- TCAGCAGCTGACTCTTGAACC -3'
Sequencing Primer
(F):5'- TCGCAGAGGGCATCATGTCTAG -3'
(R):5'- AGCAGCTGACTCTTGAACCTCTAC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation