Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03048:Bysl'

408985

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bysl

Ensembl Gene

ENSMUSG00000023988

Gene Name

bystin-like

Synonyms

Enp1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03048 (G1)

Quality Score

Status

Chromosome

Chromosomal Location

47910256-47922417 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 47913560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024783] [ENSMUST00000037333] [ENSMUST00000171031] [ENSMUST00000182129] [ENSMUST00000182209] [ENSMUST00000182506] [ENSMUST00000183044] [ENSMUST00000182539] [ENSMUST00000183256] [ENSMUST00000182848] [ENSMUST00000183177] [ENSMUST00000183206]

AlphaFold

O54825

Predicted Effect

probably null
Transcript: ENSMUST00000024783

SMART Domains

Protein: ENSMUSP00000024783
Gene: ENSMUSG00000023988

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: 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: 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: 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: ENSMUST00000182846

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: 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: ENSMUST00000183206

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (40/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,868,711 (GRCm39)		probably null	Het
Anapc4	C	T	5: 52,997,075 (GRCm39)	T116I	probably benign	Het
Arhgap45	C	T	10: 79,852,851 (GRCm39)	R14C	probably damaging	Het
Ccdc166	T	A	15: 75,854,050 (GRCm39)	N10I	possibly damaging	Het
Chd1l	T	C	3: 97,505,079 (GRCm39)	S163G	probably benign	Het
Col6a3	A	G	1: 90,737,970 (GRCm39)	V576A	possibly damaging	Het
Cpped1	T	C	16: 11,646,339 (GRCm39)	T162A	probably benign	Het
Dcbld1	A	T	10: 52,180,722 (GRCm39)	I200F	probably damaging	Het
Dock6	T	C	9: 21,720,866 (GRCm39)	E1713G	probably damaging	Het
Eif4a3l1	A	T	6: 136,306,198 (GRCm39)	T220S	probably damaging	Het
Evx1	T	C	6: 52,292,739 (GRCm39)	L130P	probably benign	Het
Fam168a	A	G	7: 100,484,545 (GRCm39)	T228A	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Firrm	G	A	1: 163,792,094 (GRCm39)	A608V	probably benign	Het
Foxp4	A	T	17: 48,191,765 (GRCm39)	M124K	unknown	Het
Gabrr3	A	G	16: 59,250,493 (GRCm39)	H164R	probably benign	Het
Gapdhrt	T	A	14: 11,281,873 (GRCm38)	I21F	probably benign	Het
Greb1	C	T	12: 16,783,332 (GRCm39)	C134Y	probably damaging	Het
Hddc2	G	A	10: 31,192,332 (GRCm39)	V79I	possibly damaging	Het
Lbr	T	C	1: 181,666,109 (GRCm39)		probably benign	Het
Mamdc4	C	T	2: 25,459,084 (GRCm39)	R229K	possibly damaging	Het
Mtor	T	C	4: 148,630,847 (GRCm39)		probably benign	Het
Ncoa1	T	C	12: 4,317,922 (GRCm39)	R1137G	probably damaging	Het
Nlrp4d	T	C	7: 10,092,881 (GRCm39)		noncoding transcript	Het
Oasl1	T	A	5: 115,075,400 (GRCm39)	S487T	possibly damaging	Het
Oprm1	T	C	10: 6,779,064 (GRCm39)	I91T	probably damaging	Het
Or11j4	G	T	14: 50,630,245 (GRCm39)	V11L	possibly damaging	Het
Or1e26	G	C	11: 73,479,831 (GRCm39)	H244Q	possibly damaging	Het
Or8g33	A	G	9: 39,338,065 (GRCm39)	F101L	probably benign	Het
Pdzk1ip1	T	A	4: 114,950,181 (GRCm39)	D147E	probably benign	Het
Per1	A	G	11: 68,995,552 (GRCm39)	K711E	probably damaging	Het
Rab3gap1	A	G	1: 127,865,214 (GRCm39)	N734S	probably damaging	Het
Rapgefl1	T	C	11: 98,727,990 (GRCm39)	L4P	possibly damaging	Het
Sgk2	A	G	2: 162,837,680 (GRCm39)	Y101C	probably damaging	Het
Tmem129	A	G	5: 33,812,811 (GRCm39)	V179A	possibly damaging	Het
Ttn	T	C	2: 76,719,259 (GRCm39)		probably benign	Het
Ttyh2	T	A	11: 114,587,521 (GRCm39)	M174K	probably benign	Het
Vmn2r13	G	A	5: 109,304,151 (GRCm39)	A760V	probably damaging	Het
Vmn2r82	A	T	10: 79,232,460 (GRCm39)	I820F	probably damaging	Het
Zswim4	T	C	8: 84,938,604 (GRCm39)	M1093V	possibly damaging	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
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
R7463:Bysl	UTSW	17	47,913,396 (GRCm39)	missense	probably benign	0.25
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

Posted On

2016-08-02