Incidental Mutation 'R9503:Themis2'
| ID |
717699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Themis2
|
| Ensembl Gene |
ENSMUSG00000037731 |
| Gene Name |
thymocyte selection associated family member 2 |
| Synonyms |
ICB-1, BC013712 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9503 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132509148-132523675 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 132510657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045154]
[ENSMUST00000102561]
|
| AlphaFold |
Q91YX0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045154
|
| SMART Domains |
Protein: ENSMUSP00000036945
Gene: ENSMUSG00000037731
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,987,458 (GRCm39) |
V2914E |
probably damaging |
Het |
| Bcan |
G |
A |
3: 87,900,748 (GRCm39) |
P495L |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cc2d2b |
C |
T |
19: 40,804,275 (GRCm39) |
T934M |
unknown |
Het |
| Ciao1 |
T |
C |
2: 127,084,916 (GRCm39) |
D274G |
probably damaging |
Het |
| Cpne9 |
G |
T |
6: 113,271,732 (GRCm39) |
R364L |
possibly damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Fbn2 |
T |
C |
18: 58,171,313 (GRCm39) |
Y2150C |
probably damaging |
Het |
| Hdac4 |
A |
T |
1: 91,929,956 (GRCm39) |
F177I |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,865,440 (GRCm39) |
V2906A |
possibly damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,468 (GRCm39) |
D94G |
probably benign |
Het |
| Nudt14 |
A |
G |
12: 112,898,566 (GRCm39) |
L178P |
probably damaging |
Het |
| Or14a258 |
C |
T |
7: 86,035,228 (GRCm39) |
M213I |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,263,882 (GRCm39) |
W361R |
possibly damaging |
Het |
| Pcnx4 |
G |
T |
12: 72,588,561 (GRCm39) |
S123I |
probably damaging |
Het |
| Pnp |
A |
G |
14: 51,188,423 (GRCm39) |
N199S |
probably benign |
Het |
| Prr12 |
G |
T |
7: 44,693,020 (GRCm39) |
P1504Q |
unknown |
Het |
| Pus7l |
T |
A |
15: 94,438,666 (GRCm39) |
I60L |
probably benign |
Het |
| Strn3 |
A |
T |
12: 51,656,894 (GRCm39) |
F795I |
possibly damaging |
Het |
| Stxbp3 |
A |
G |
3: 108,710,911 (GRCm39) |
L327P |
probably damaging |
Het |
| Ube2j1 |
C |
T |
4: 33,049,781 (GRCm39) |
Q260* |
probably null |
Het |
| Unc93b1 |
A |
G |
19: 3,986,373 (GRCm39) |
I136V |
possibly damaging |
Het |
| Usp9y |
T |
A |
Y: 1,316,045 (GRCm39) |
Q2030L |
possibly 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 |
|
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 |
|
R9642:Themis2
|
UTSW |
4 |
132,513,047 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTGTCCTGTTTGTCGCAG -3'
(R):5'- TCAGCAGCTGACTCTTGAAC -3'
Sequencing Primer
(F):5'- TCGCAGAGGGCATCATGTCTAG -3'
(R):5'- AGCAGCTGACTCTTGAACCTCTAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation