Incidental Mutation 'R7463:Bysl'
| ID |
578591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bysl
|
| Ensembl Gene |
ENSMUSG00000023988 |
| Gene Name |
bystin-like |
| Synonyms |
Enp1 |
| MMRRC Submission |
045537-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47910256-47922417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47913396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 296
(S296T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024783]
[ENSMUST00000037333]
[ENSMUST00000171031]
[ENSMUST00000182129]
[ENSMUST00000182209]
[ENSMUST00000182506]
[ENSMUST00000183177]
[ENSMUST00000182539]
[ENSMUST00000183158]
[ENSMUST00000183206]
[ENSMUST00000183044]
[ENSMUST00000183256]
[ENSMUST00000182848]
[ENSMUST00000182874]
|
| AlphaFold |
O54825 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024783
AA Change: S296T
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000024783
Gene: ENSMUSG00000023988
AA Change: S296T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
69 |
N/A |
INTRINSIC |
|
Pfam:Bystin
|
140 |
430 |
1.1e-144 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037333
|
| SMART Domains |
Protein: ENSMUSP00000040488
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
62 |
146 |
1.12e-17 |
SMART |
|
Cyclin_C
|
155 |
280 |
3.49e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171031
|
| SMART Domains |
Protein: ENSMUSP00000126141
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
62 |
146 |
1.12e-17 |
SMART |
|
Cyclin_C
|
155 |
280 |
3.49e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182129
|
| SMART Domains |
Protein: ENSMUSP00000138486
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
62 |
146 |
1.12e-17 |
SMART |
|
Pfam:Cyclin_C
|
155 |
214 |
2.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182209
|
| SMART Domains |
Protein: ENSMUSP00000138091
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
62 |
146 |
1.12e-17 |
SMART |
|
Cyclin_C
|
155 |
280 |
3.49e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182281
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182506
|
| SMART Domains |
Protein: ENSMUSP00000138180
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
62 |
146 |
1.12e-17 |
SMART |
|
Cyclin_C
|
155 |
251 |
2.02e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183177
|
| SMART Domains |
Protein: ENSMUSP00000138640
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
62 |
146 |
1.12e-17 |
SMART |
|
Cyclin_C
|
155 |
280 |
3.49e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182846
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182539
|
| SMART Domains |
Protein: ENSMUSP00000138458
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin_C
|
1 |
84 |
1.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183158
|
| SMART Domains |
Protein: ENSMUSP00000138169
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
1 |
82 |
1.71e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183206
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183044
|
| SMART Domains |
Protein: ENSMUSP00000138220
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
62 |
146 |
1.12e-17 |
SMART |
|
Cyclin_C
|
155 |
280 |
3.49e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183256
|
| SMART Domains |
Protein: ENSMUSP00000138528
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin_C
|
1 |
70 |
9.4e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182848
|
| SMART Domains |
Protein: ENSMUSP00000138715
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
62 |
146 |
1.12e-17 |
SMART |
|
Pfam:Cyclin_C
|
155 |
243 |
8.1e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182874
|
| SMART Domains |
Protein: ENSMUSP00000138711
Gene: ENSMUSG00000034165
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3G33|D
|
1 |
69 |
3e-42 |
PDB |
|
SCOP:d1g3nc1
|
22 |
67 |
9e-10 |
SMART |
|
Blast:CYCLIN
|
26 |
66 |
9e-10 |
BLAST |
|
PDB:2W9F|A
|
73 |
119 |
3e-9 |
PDB |
|
Blast:CYCLIN
|
87 |
119 |
4e-12 |
BLAST |
|
| Meta Mutation Damage Score |
0.2366 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality shortly after implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,634,698 (GRCm39) |
V435E |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,878,399 (GRCm39) |
D413G |
probably damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,310,140 (GRCm39) |
D727V |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,583,452 (GRCm39) |
Q309* |
probably null |
Het |
| Amy1 |
A |
T |
3: 113,363,533 (GRCm39) |
C43* |
probably null |
Het |
| Bpifc |
T |
C |
10: 85,815,198 (GRCm39) |
E256G |
probably benign |
Het |
| Carmil3 |
C |
T |
14: 55,739,853 (GRCm39) |
P980L |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,640,408 (GRCm39) |
M1K |
probably null |
Het |
| Cpt2 |
A |
T |
4: 107,765,354 (GRCm39) |
F137I |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,295,094 (GRCm39) |
I112V |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,831,402 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,650,374 (GRCm39) |
I90F |
probably damaging |
Het |
| Cyp4f16 |
C |
T |
17: 32,769,761 (GRCm39) |
A457V |
possibly damaging |
Het |
| Ddx6 |
A |
G |
9: 44,540,026 (GRCm39) |
E318G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,052,038 (GRCm39) |
E213G |
probably benign |
Het |
| Dlx5 |
T |
C |
6: 6,878,316 (GRCm39) |
H238R |
probably damaging |
Het |
| Dnai2 |
A |
C |
11: 114,645,232 (GRCm39) |
I556L |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,823,521 (GRCm39) |
V1147M |
possibly damaging |
Het |
| Egf |
G |
T |
3: 129,533,664 (GRCm39) |
Q59K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,623,662 (GRCm39) |
Y109* |
probably null |
Het |
| Fer1l6 |
T |
A |
15: 58,445,450 (GRCm39) |
Y573* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,083,954 (GRCm39) |
L503P |
probably damaging |
Het |
| Gnptab |
T |
G |
10: 88,267,251 (GRCm39) |
I447M |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,783,448 (GRCm39) |
D253N |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,929,532 (GRCm39) |
T958A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,497 (GRCm39) |
L67Q |
probably damaging |
Het |
| Kif5a |
A |
G |
10: 127,079,593 (GRCm39) |
V248A |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 99,920,389 (GRCm39) |
I88T |
probably damaging |
Het |
| Lhx2 |
G |
A |
2: 38,241,858 (GRCm39) |
E25K |
possibly damaging |
Het |
| Mex3d |
C |
T |
10: 80,217,532 (GRCm39) |
G562R |
|
Het |
| Myom2 |
A |
T |
8: 15,167,679 (GRCm39) |
Y1088F |
probably null |
Het |
| Ncapg |
T |
A |
5: 45,851,434 (GRCm39) |
|
probably null |
Het |
| Nudc |
A |
C |
4: 133,261,714 (GRCm39) |
V190G |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,013,686 (GRCm39) |
R1054S |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,648,168 (GRCm39) |
W54R |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,860 (GRCm39) |
V221A |
probably benign |
Het |
| Or2d4 |
A |
T |
7: 106,543,380 (GRCm39) |
V276E |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,689 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or56a5 |
T |
A |
7: 104,793,144 (GRCm39) |
M119L |
probably benign |
Het |
| Or8j3 |
T |
C |
2: 86,028,182 (GRCm39) |
M305V |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,338,007 (GRCm39) |
R891S |
possibly damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,467,602 (GRCm39) |
S1873L |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,878,340 (GRCm39) |
K632E |
probably benign |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,480 (GRCm39) |
A517T |
probably damaging |
Het |
| Ptgr2 |
A |
T |
12: 84,339,072 (GRCm39) |
|
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Racgap1 |
T |
A |
15: 99,540,839 (GRCm39) |
T4S |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,404 (GRCm39) |
H941R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,308,433 (GRCm39) |
H312R |
probably damaging |
Het |
| Rnf166 |
T |
A |
8: 123,194,726 (GRCm39) |
H208L |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,412,549 (GRCm39) |
E314G |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,086,295 (GRCm39) |
S999P |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tor1aip1 |
A |
T |
1: 155,883,355 (GRCm39) |
H349Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,750,804 (GRCm39) |
E3415V |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,896,886 (GRCm39) |
N78Y |
probably damaging |
Het |
| Wdr11 |
A |
T |
7: 129,208,810 (GRCm39) |
D427V |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,003,449 (GRCm39) |
|
probably benign |
Het |
| Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
Het |
|
| Other mutations in Bysl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Bysl
|
APN |
17 |
47,912,796 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01343:Bysl
|
APN |
17 |
47,912,814 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01982:Bysl
|
APN |
17 |
47,921,996 (GRCm39) |
splice site |
probably null |
|
|
IGL03048:Bysl
|
APN |
17 |
47,913,560 (GRCm39) |
splice site |
probably null |
|
|
IGL03227:Bysl
|
APN |
17 |
47,922,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0115:Bysl
|
UTSW |
17 |
47,921,867 (GRCm39) |
missense |
probably benign |
|
|
R0243:Bysl
|
UTSW |
17 |
47,917,821 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0685:Bysl
|
UTSW |
17 |
47,913,396 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2511:Bysl
|
UTSW |
17 |
47,915,260 (GRCm39) |
missense |
probably benign |
|
|
R4202:Bysl
|
UTSW |
17 |
47,915,251 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5636:Bysl
|
UTSW |
17 |
47,913,648 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6614:Bysl
|
UTSW |
17 |
47,912,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Bysl
|
UTSW |
17 |
47,912,710 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8861:Bysl
|
UTSW |
17 |
47,917,884 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9114:Bysl
|
UTSW |
17 |
47,915,242 (GRCm39) |
missense |
|
|
|
R9666:Bysl
|
UTSW |
17 |
47,914,865 (GRCm39) |
missense |
probably benign |
0.14 |
|
X0025:Bysl
|
UTSW |
17 |
47,922,016 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCTAGACTCGAGGTAATC -3'
(R):5'- CAAGAAGGCCCTGTTCAAGC -3'
Sequencing Primer
(F):5'- CGGCTAGACTCGAGGTAATCATAGC -3'
(R):5'- CCTGGAGCCTGGTTCAAAGGTAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation