Incidental Mutation 'IGL02743:Themis2'
ID |
305985 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Themis2
|
Ensembl Gene |
ENSMUSG00000037731 |
Gene Name |
thymocyte selection associated family member 2 |
Synonyms |
ICB-1, BC013712 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02743
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
132509148-132523675 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 132510795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 582
(E582D)
|
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: E582D
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000036945 Gene: ENSMUSG00000037731 AA Change: E582D
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambn |
A |
C |
5: 88,612,343 (GRCm39) |
D188A |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,270,054 (GRCm39) |
E365G |
probably benign |
Het |
Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
AW554918 |
C |
T |
18: 25,423,001 (GRCm39) |
Q151* |
probably null |
Het |
Chd6 |
T |
C |
2: 160,802,183 (GRCm39) |
D2217G |
probably damaging |
Het |
Cntn5 |
T |
A |
9: 9,984,115 (GRCm39) |
E166V |
probably damaging |
Het |
Cyp4f15 |
T |
C |
17: 32,918,926 (GRCm39) |
S319P |
possibly damaging |
Het |
Dna2 |
G |
A |
10: 62,792,821 (GRCm39) |
V279I |
possibly damaging |
Het |
Edrf1 |
A |
G |
7: 133,258,220 (GRCm39) |
|
probably benign |
Het |
Fmo3 |
A |
T |
1: 162,786,052 (GRCm39) |
F313I |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,197,221 (GRCm39) |
D245G |
possibly damaging |
Het |
Lrsam1 |
T |
C |
2: 32,818,661 (GRCm39) |
|
probably null |
Het |
Mfn1 |
A |
T |
3: 32,628,439 (GRCm39) |
H690L |
probably benign |
Het |
Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
Nlrp4a |
T |
G |
7: 26,159,240 (GRCm39) |
|
probably benign |
Het |
Or2t44 |
T |
A |
11: 58,677,606 (GRCm39) |
L182* |
probably null |
Het |
Or4d10b |
A |
G |
19: 12,036,811 (GRCm39) |
F102L |
probably damaging |
Het |
Or4k45 |
T |
A |
2: 111,394,888 (GRCm39) |
R300S |
possibly damaging |
Het |
Or51f5 |
T |
A |
7: 102,424,505 (GRCm39) |
I258N |
probably damaging |
Het |
Or52n2c |
T |
C |
7: 104,574,075 (GRCm39) |
T299A |
probably damaging |
Het |
Or8g35 |
G |
A |
9: 39,381,542 (GRCm39) |
T160I |
probably benign |
Het |
Plcxd3 |
G |
A |
15: 4,604,285 (GRCm39) |
V298I |
possibly damaging |
Het |
Prrc2b |
C |
T |
2: 32,084,441 (GRCm39) |
S302F |
probably damaging |
Het |
Serpine2 |
A |
T |
1: 79,779,272 (GRCm39) |
F149I |
probably damaging |
Het |
Slc24a5 |
T |
C |
2: 124,930,154 (GRCm39) |
L485P |
probably damaging |
Het |
Spg11 |
T |
A |
2: 121,889,988 (GRCm39) |
H2118L |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stxbp1 |
T |
C |
2: 32,709,913 (GRCm39) |
D60G |
probably damaging |
Het |
Tmem131 |
T |
G |
1: 36,832,232 (GRCm39) |
I1802L |
probably benign |
Het |
Tnrc6a |
A |
G |
7: 122,770,696 (GRCm39) |
K829E |
probably damaging |
Het |
Usp8 |
T |
C |
2: 126,575,943 (GRCm39) |
M213T |
probably damaging |
Het |
Wnk2 |
A |
G |
13: 49,248,920 (GRCm39) |
V377A |
probably damaging |
Het |
Wwox |
T |
G |
8: 116,078,443 (GRCm39) |
Y375D |
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 |
|
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 |
R4891:Themis2
|
UTSW |
4 |
132,510,668 (GRCm39) |
missense |
probably benign |
0.14 |
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 |
|
Posted On |
2015-04-16 |