Mutagenetix > Incidental Mutation

Incidental Mutation 'R9666:Bysl'

735749

Institutional Source

Beutler Lab

Gene Symbol

Bysl

Ensembl Gene

ENSMUSG00000023988

Gene Name

bystin-like

Synonyms

Enp1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9666 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47910256-47922417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47914865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 206 (I206T)

Ref Sequence

ENSEMBL: ENSMUSP00000024783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024783] [ENSMUST00000037333] [ENSMUST00000171031] [ENSMUST00000182209] [ENSMUST00000182539] [ENSMUST00000183044] [ENSMUST00000183177]

AlphaFold

O54825

Predicted Effect

probably benign
Transcript: ENSMUST00000024783
AA Change: I206T

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000024783
Gene: ENSMUSG00000023988
AA Change: I206T

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: 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

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: 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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	C	A	12: 118,838,422 (GRCm39)	V1047L	probably damaging	Het
Akap6	G	A	12: 53,188,318 (GRCm39)	A1911T	probably benign	Het
Ank2	T	A	3: 126,726,838 (GRCm39)	K819*	probably null	Het
Apc2	A	G	10: 80,147,183 (GRCm39)	R746G	possibly damaging	Het
Baz1a	A	G	12: 54,988,345 (GRCm39)	I268T	probably benign	Het
Ccdc70	A	C	8: 22,463,357 (GRCm39)	E49A	possibly damaging	Het
Chd1	A	T	17: 15,955,976 (GRCm39)	H525L	probably damaging	Het
Col4a4	T	C	1: 82,496,670 (GRCm39)	E442G	unknown	Het
Cpd	G	A	11: 76,693,133 (GRCm39)	P718S	probably benign	Het
Dip2b	T	A	15: 100,107,461 (GRCm39)	I1391N	probably damaging	Het
Dpp9	T	C	17: 56,501,946 (GRCm39)	T541A	probably damaging	Het
Dst	C	T	1: 34,218,947 (GRCm39)	Q1796*	probably null	Het
Gm10267	T	C	18: 44,291,397 (GRCm39)	I25V	probably benign	Het
Gm32742	C	T	9: 51,061,441 (GRCm39)	R744Q	probably benign	Het
Gm37240	T	C	3: 84,422,952 (GRCm39)	Y139C	probably damaging	Het
Gm39115	A	G	7: 141,689,255 (GRCm39)	C173R	unknown	Het
Grm6	T	G	11: 50,750,877 (GRCm39)	V680G	probably damaging	Het
Grxcr2	C	T	18: 42,131,956 (GRCm39)	D38N	probably damaging	Het
Iah1	G	A	12: 21,366,587 (GRCm39)	R52H	probably damaging	Het
Ift43	A	G	12: 86,131,920 (GRCm39)	Y36C	possibly damaging	Het
Igf2r	T	C	17: 12,945,588 (GRCm39)	I334V	probably benign	Het
Igfn1	T	A	1: 135,897,692 (GRCm39)	Q958L	possibly damaging	Het
Il4i1	G	A	7: 44,489,263 (GRCm39)	A343T	possibly damaging	Het
Ints1	T	C	5: 139,748,217 (GRCm39)	I1128V	probably benign	Het
Irx1	C	A	13: 72,111,588 (GRCm39)	G7V	probably damaging	Het
Krr1	A	G	10: 111,818,896 (GRCm39)	R312G	possibly damaging	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lpin2	A	T	17: 71,529,065 (GRCm39)	N108Y	probably damaging	Het
Man2a1	A	T	17: 64,943,557 (GRCm39)	E204V	possibly damaging	Het
Megf8	A	G	7: 25,030,166 (GRCm39)	T434A	possibly damaging	Het
Minar1	A	T	9: 89,484,072 (GRCm39)	S442T	probably benign	Het
Muc16	T	C	9: 18,567,285 (GRCm39)	T1745A	unknown	Het
Mycbp2	G	T	14: 103,371,474 (GRCm39)	P4135T	probably damaging	Het
Nuggc	T	C	14: 65,857,045 (GRCm39)	V398A	possibly damaging	Het
Or1e22	A	G	11: 73,376,885 (GRCm39)	I255T	probably damaging	Het
Or1e29	A	T	11: 73,667,976 (GRCm39)	M59K	probably damaging	Het
Or5w11	C	T	2: 87,459,152 (GRCm39)	A115V	possibly damaging	Het
Or6a2	A	T	7: 106,600,099 (GRCm39)	S323T	probably benign	Het
Or6e1	G	T	14: 54,520,342 (GRCm39)	N3K	probably damaging	Het
Or6f1	A	G	7: 85,970,444 (GRCm39)	S239P	probably damaging	Het
Parg	A	G	14: 31,964,294 (GRCm39)	N653S	probably damaging	Het
Plek	A	G	11: 16,945,346 (GRCm39)	F18L	probably benign	Het
Pnoc	A	G	14: 65,639,247 (GRCm39)	I206T	possibly damaging	Het
Ppp4r3a	T	C	12: 101,049,129 (GRCm39)	M1V	probably null	Het
Pramel21	A	G	4: 143,341,699 (GRCm39)	T43A	probably benign	Het
Psg22	T	C	7: 18,458,248 (GRCm39)	V313A	probably benign	Het
Ptk2b	G	T	14: 66,409,546 (GRCm39)	P497T	probably damaging	Het
Rer1	A	G	4: 155,160,044 (GRCm39)		probably null	Het
Rnf130	A	G	11: 49,986,618 (GRCm39)	T321A	probably benign	Het
Rnf207	A	T	4: 152,397,717 (GRCm39)	F346I	probably damaging	Het
Rraga	T	A	4: 86,494,574 (GRCm39)	I140N	possibly damaging	Het
Rusc2	A	T	4: 43,416,262 (GRCm39)	M523L	probably benign	Het
Sh3bp1	T	A	15: 78,792,622 (GRCm39)	V495D	probably benign	Het
Slc44a5	T	C	3: 153,945,926 (GRCm39)	L153P	probably benign	Het
Spag16	T	C	1: 70,764,072 (GRCm39)	S631P	probably damaging	Het
Syne1	A	C	10: 4,984,937 (GRCm39)	L747R	probably damaging	Het
Tac1	A	G	6: 7,555,675 (GRCm39)	E21G	probably benign	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tln1	T	C	4: 43,542,957 (GRCm39)	D1344G	probably damaging	Het
Tnc	C	T	4: 63,926,045 (GRCm39)	E912K	probably damaging	Het
Trav16d-dv11	A	G	14: 53,285,037 (GRCm39)	T38A	probably benign	Het
Trbv15	T	A	6: 41,118,364 (GRCm39)	L40Q	probably damaging	Het
Trpa1	T	C	1: 14,973,455 (GRCm39)	I288V	possibly damaging	Het
Ttn	A	T	2: 76,604,941 (GRCm39)	I18331N	probably damaging	Het
Tubgcp2	A	T	7: 139,587,836 (GRCm39)	I263N	probably damaging	Het
Ugt8a	T	C	3: 125,708,957 (GRCm39)	H51R	probably benign	Het
Vmn2r2	T	C	3: 64,023,870 (GRCm39)	T904A	probably benign	Het
Zfp575	G	A	7: 24,285,323 (GRCm39)	T106M	probably damaging	Het
Zfp617	A	G	8: 72,686,539 (GRCm39)	T290A	probably benign	Het
Zfp809	T	C	9: 22,149,863 (GRCm39)	V120A	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
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
X0025:Bysl	UTSW	17	47,922,016 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAGTCACACCTGAAAATAGG -3'
(R):5'- CCCTGGAAGTCTACTAAACTCCG -3'

Sequencing Primer
(F):5'- CCCCCAGAAAGAACAAAGTTAAGGG -3'
(R):5'- TGGAAGTCTACTAAACTCCGGTCAC -3'

Posted On

2022-11-14