Mutagenetix > Incidental Mutation

Incidental Mutation 'R9114:Bysl'

692444

Institutional Source

Beutler Lab

Gene Symbol

Bysl

Ensembl Gene

ENSMUSG00000023988

Gene Name

bystin-like

Synonyms

Enp1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9114 (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 47915242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 169 (S169P)

Ref Sequence

ENSEMBL: ENSMUSP00000024783 (fasta)

Gene Model

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

AlphaFold

O54825

Predicted Effect

SMART Domains

Protein: ENSMUSP00000024783
Gene: ENSMUSG00000023988
AA Change: S169P

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: 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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,788,702 (GRCm39)	L1027*	probably null	Het
Actl11	T	A	9: 107,808,509 (GRCm39)	M944K	possibly damaging	Het
Afap1l2	T	C	19: 56,906,427 (GRCm39)	K491E	probably damaging	Het
Ahr	A	T	12: 35,561,164 (GRCm39)	D150E	probably damaging	Het
Arhgef1	T	A	7: 24,607,304 (GRCm39)	L17Q	probably damaging	Het
C4b	A	T	17: 34,948,404 (GRCm39)	F1610I	probably damaging	Het
Chtf8	C	A	8: 107,612,481 (GRCm39)	A153S	probably benign	Het
Ciapin1	C	T	8: 95,558,400 (GRCm39)		probably null	Het
Cnnm1	A	G	19: 43,429,395 (GRCm39)	E171G	possibly damaging	Het
Crybb3	T	C	5: 113,225,407 (GRCm39)	N155S	probably benign	Het
Dclk3	T	A	9: 111,317,683 (GRCm39)	M773K	probably benign	Het
Ddx18	A	T	1: 121,489,267 (GRCm39)	V260D	probably damaging	Het
Dmxl2	T	A	9: 54,307,321 (GRCm39)	N2216Y		Het
Epn2	T	C	11: 61,437,446 (GRCm39)	E42G	probably damaging	Het
Esrrg	C	A	1: 187,878,605 (GRCm39)	P229T	probably benign	Het
Esrrg	C	A	1: 187,878,606 (GRCm39)	P229Q	possibly damaging	Het
Ethe1	G	T	7: 24,305,643 (GRCm39)	R130L	probably benign	Het
Fgl2	G	A	5: 21,580,363 (GRCm39)	C235Y	probably damaging	Het
Fmnl1	C	T	11: 103,087,327 (GRCm39)	T890M	unknown	Het
Fsip2	C	G	2: 82,807,301 (GRCm39)	P1207A	probably benign	Het
Gc	C	T	5: 89,593,165 (GRCm39)	D85N	possibly damaging	Het
Gfi1	G	A	5: 107,869,370 (GRCm39)	R287W	probably damaging	Het
Gm3629	T	C	14: 17,834,566 (GRCm39)		probably null	Het
Hapln3	A	G	7: 78,771,712 (GRCm39)	F59S	probably benign	Het
Il24	G	A	1: 130,813,483 (GRCm39)	T38I	possibly damaging	Het
Izumo1	A	G	7: 45,276,583 (GRCm39)	D382G	probably benign	Het
Kdm5a	T	A	6: 120,382,887 (GRCm39)	Y739*	probably null	Het
Kif2b	T	A	11: 91,466,538 (GRCm39)	I582F	possibly damaging	Het
Klhdc1	A	G	12: 69,288,783 (GRCm39)	Y31C	probably damaging	Het
Lama1	G	A	17: 68,128,669 (GRCm39)	E3009K		Het
Mad2l1bp	G	A	17: 46,458,958 (GRCm39)	R191C	probably damaging	Het
Mark1	A	C	1: 184,644,261 (GRCm39)	S468A	probably damaging	Het
Mknk2	T	A	10: 80,504,823 (GRCm39)	N236Y	probably damaging	Het
Muc2	T	A	7: 141,287,983 (GRCm39)	C251*	probably null	Het
Nacad	T	C	11: 6,552,252 (GRCm39)	D313G	probably damaging	Het
Neb	G	T	2: 52,099,599 (GRCm39)	D4750E	probably benign	Het
Nlrp6	T	C	7: 140,506,332 (GRCm39)	S758P	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or13a28	A	C	7: 140,218,282 (GRCm39)	I223L	probably benign	Het
Or51b4	T	C	7: 103,530,569 (GRCm39)	T294A	possibly damaging	Het
Or8b3b	A	G	9: 38,583,892 (GRCm39)	F283L	probably benign	Het
Oxtr	A	G	6: 112,466,481 (GRCm39)	V93A	probably damaging	Het
Pbx3	C	A	2: 34,103,271 (GRCm39)	D234Y	probably damaging	Het
Pde4b	A	T	4: 102,459,826 (GRCm39)	T554S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pid1	A	T	1: 84,015,955 (GRCm39)	Y151N	probably damaging	Het
Plcd4	A	G	1: 74,591,307 (GRCm39)	E234G	possibly damaging	Het
Pou6f1	A	G	15: 100,478,789 (GRCm39)	V373A	probably benign	Het
Ppp1r12c	T	C	7: 4,485,792 (GRCm39)	K685E	possibly damaging	Het
Rnf34	T	A	5: 122,999,957 (GRCm39)	V71D	probably damaging	Het
Rpap2	T	G	5: 107,746,156 (GRCm39)	H11Q	possibly damaging	Het
Skint2	A	G	4: 112,496,834 (GRCm39)	T247A	probably benign	Het
Stat5b	T	A	11: 100,692,350 (GRCm39)	N145Y	probably damaging	Het
Sv2b	A	G	7: 74,856,017 (GRCm39)	L91P	probably damaging	Het
Syt1	A	G	10: 108,340,376 (GRCm39)	I314T	probably damaging	Het
Tlk1	A	T	2: 70,572,502 (GRCm39)	N355K	probably benign	Het
Tnc	C	A	4: 63,890,973 (GRCm39)	M1636I	probably benign	Het
Trank1	C	A	9: 111,162,843 (GRCm39)	A34D	probably damaging	Het
Unc13c	A	G	9: 73,719,665 (GRCm39)	I1001T	probably benign	Het
Vdr	T	C	15: 97,765,136 (GRCm39)	D201G	probably benign	Het
Vmn2r115	A	T	17: 23,564,307 (GRCm39)	I160L	probably benign	Het
Wdr81	C	A	11: 75,335,250 (GRCm39)	R1772L	probably damaging	Het
Zfp457	T	C	13: 67,442,068 (GRCm39)	D169G	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
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'- ACAGTGCAAGAACCTGAGCC -3'
(R):5'- TCAGCGTCCAGGGGAATTATAC -3'

Sequencing Primer
(F):5'- AGCCTATCAGCTCTCCCC -3'
(R):5'- GTTGGGATTAAAGGCTTACACCACC -3'

Posted On

2021-12-30