Mutagenetix > Incidental Mutations

Incidental Mutation 'R7311:Bysl'

567632

Institutional Source

Beutler Lab

Gene Symbol

Bysl

Ensembl Gene

ENSMUSG00000023988

Gene Name

bystin-like

Synonyms

Enp1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7311 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47599331-47611492 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47601785 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 360 (V360A)

Ref Sequence

ENSEMBL: ENSMUSP00000024783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024783] [ENSMUST00000037333] [ENSMUST00000171031] [ENSMUST00000182129] [ENSMUST00000182209] [ENSMUST00000182506] [ENSMUST00000182539] [ENSMUST00000182848] [ENSMUST00000182874] [ENSMUST00000183044] [ENSMUST00000183158] [ENSMUST00000183177] [ENSMUST00000183206] [ENSMUST00000183210] [ENSMUST00000183256]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024783
AA Change: V360A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024783
Gene: ENSMUSG00000023988
AA Change: V360A

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

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: 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: 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: 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

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: 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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000183210

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	G	12: 110,668,750	V118A	probably benign	Het
2410089E03Rik	G	T	15: 8,180,915	V291F	probably damaging	Het
2810403A07Rik	T	C	3: 88,711,695	S569P	probably damaging	Het
Accsl	C	T	2: 93,865,815	G146D	possibly damaging	Het
Acsm1	A	T	7: 119,638,082	H206L	probably damaging	Het
Acta2	A	G	19: 34,241,786	Y339H	probably damaging	Het
Adcy2	T	C	13: 68,630,954	D989G	probably damaging	Het
Ahnak	G	A	19: 9,002,143	A264T	probably benign	Het
Ahnak	A	G	19: 9,009,827	D2825G	possibly damaging	Het
AI464131	A	G	4: 41,498,577	I351T	probably damaging	Het
Akt1	G	T	12: 112,657,153	T291K	probably damaging	Het
Arhgap24	A	G	5: 102,892,685	D589G	probably damaging	Het
B4galnt3	G	A	6: 120,215,435	Q447*	probably null	Het
BC024063	C	T	10: 82,110,159	R538C	possibly damaging	Het
Bod1l	A	G	5: 41,794,333	S2912P	possibly damaging	Het
C1qb	A	G	4: 136,880,566	V162A	possibly damaging	Het
Ccdc57	G	A	11: 120,873,741	P736L	probably benign	Het
Cep290	T	A	10: 100,537,718	F1287I	probably damaging	Het
Cntn1	T	C	15: 92,232,275		probably null	Het
Col6a3	C	T	1: 90,822,291	G274R	probably damaging	Het
Cyb5r4	T	C	9: 87,055,782	C285R	probably damaging	Het
Cyp4f39	G	A	17: 32,489,655	C392Y	probably damaging	Het
Dcun1d3	A	T	7: 119,859,511	D100E	probably damaging	Het
Dhx58	A	T	11: 100,698,171	D516E	probably benign	Het
Dock5	T	A	14: 67,828,502	I351F	probably benign	Het
Elmod2	A	C	8: 83,319,412		probably null	Het
Endov	G	A	11: 119,507,251	A281T	probably benign	Het
Epyc	A	G	10: 97,649,700	M1V	probably null	Het
Espnl	T	A	1: 91,323,568	H128Q	probably damaging	Het
Fam20a	A	T	11: 109,674,628	C452*	probably null	Het
Fam241b	A	G	10: 62,108,954	V88A	probably damaging	Het
Fgd3	A	T	13: 49,296,690	S28T	possibly damaging	Het
Fmn1	C	A	2: 113,525,680	P920Q	unknown	Het
Gpr139	G	C	7: 119,144,866	D165E	probably benign	Het
Hoxb1	A	G	11: 96,367,101	T286A	possibly damaging	Het
Ifi204	T	A	1: 173,759,568	E174D	probably benign	Het
Igf2bp2	A	G	16: 22,061,882	I555T	possibly damaging	Het
Ighv1-85	A	G	12: 116,000,179	I67T	probably damaging	Het
Ihh	G	C	1: 74,951,147	P23R	unknown	Het
Irx2	T	C	13: 72,631,277	S227P	probably damaging	Het
Itga4	A	G	2: 79,256,182	I68V	probably benign	Het
Jsrp1	T	A	10: 80,812,072	T51S	probably benign	Het
Kifc2	G	T	15: 76,662,810	G306V	probably damaging	Het
L3mbtl2	T	A	15: 81,667,387	S85T	possibly damaging	Het
Lama1	T	C	17: 67,767,385	S944P		Het
Lama4	T	A	10: 39,026,635	C202S	probably damaging	Het
Lrrc29	A	G	8: 105,315,667		probably benign	Het
Mkl2	T	A	16: 13,405,854	Y866*	probably null	Het
Morc3	G	A	16: 93,849,173	D218N	probably damaging	Het
N4bp2l1	G	A	5: 150,572,924	T179I	probably damaging	Het
Narf	A	G	11: 121,249,150	E270G	probably benign	Het
Nsd2	A	G	5: 33,892,036	D1205G	probably damaging	Het
Olfr235	T	C	19: 12,268,704	V158A	probably benign	Het
Olfr417	T	C	1: 174,369,193	V92A	probably benign	Het
Parl	T	C	16: 20,287,875	T195A	probably benign	Het
Phrf1	A	G	7: 141,240,933	I158V	unknown	Het
Phtf1	T	C	3: 103,997,664	F543L	possibly damaging	Het
Plod2	T	A	9: 92,584,558	D190E	probably damaging	Het
Polr1a	G	T	6: 71,950,879	K871N	possibly damaging	Het
Ppp2r5a	A	T	1: 191,357,801	I252K	probably damaging	Het
Ptgir	T	A	7: 16,907,048	D88E	probably damaging	Het
Raly	T	C	2: 154,857,420	V48A	probably damaging	Het
Ripor1	T	A	8: 105,617,815	L527*	probably null	Het
Rnf213	T	C	11: 119,416,547	S678P		Het
Rpf1	T	A	3: 146,507,163	Q306L	probably benign	Het
Rpl14	T	C	9: 120,574,105	I122T	probably damaging	Het
Scn9a	C	A	2: 66,484,404	A1657S	possibly damaging	Het
Serpinb10	A	G	1: 107,546,747	Y213C	probably damaging	Het
Slc25a23	A	G	17: 57,052,827	L308P	probably damaging	Het
Smg9	T	A	7: 24,420,633	M387K	probably benign	Het
Socs3	G	A	11: 117,967,788	P148L	probably benign	Het
Susd3	A	G	13: 49,248,430	L14P	probably benign	Het
Syt14	T	A	1: 192,980,550	M80L	probably benign	Het
Tmprss2	T	A	16: 97,568,416	Y386F	possibly damaging	Het
Tmx3	T	A	18: 90,540,071	S416T	probably benign	Het
Treh	A	G	9: 44,685,948	T555A	probably benign	Het
Ttc5	T	G	14: 50,765,943	Q428P	probably damaging	Het
Vmn2r73	A	G	7: 85,871,984	S259P	possibly damaging	Het
Vps4b	A	T	1: 106,791,704	V38E	probably damaging	Het
Wdr83	C	A	8: 85,076,261	R177L	probably benign	Het
Zfp780b	A	G	7: 27,963,163	F656L	possibly damaging	Het
Zfp995	A	T	17: 21,880,660	F198I	probably benign	Het
Zswim8	A	T	14: 20,721,484	Y1495F	probably damaging	Het

Other mutations in Bysl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Bysl	APN	17	47601871	missense	probably benign	0.25
IGL01343:Bysl	APN	17	47601889	missense	probably benign	0.02
IGL01982:Bysl	APN	17	47611071	unclassified	probably null
IGL03048:Bysl	APN	17	47602635	splice site	probably null
IGL03227:Bysl	APN	17	47611092	missense	probably benign	0.01
R0115:Bysl	UTSW	17	47610942	missense	probably benign
R0243:Bysl	UTSW	17	47606896	missense	possibly damaging	0.93
R0685:Bysl	UTSW	17	47602471	missense	probably benign	0.25
R2511:Bysl	UTSW	17	47604335	missense	probably benign
R4202:Bysl	UTSW	17	47604326	missense	probably benign	0.31
R5636:Bysl	UTSW	17	47602723	missense	probably benign	0.25
R6614:Bysl	UTSW	17	47601842	missense	probably damaging	1.00
R7463:Bysl	UTSW	17	47602471	missense	probably benign	0.25
X0025:Bysl	UTSW	17	47611091	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACTGTTCTCATTCCATGGTGAC -3'
(R):5'- AGAGGACTCCCATAGGTGTG -3'

Sequencing Primer
(F):5'- TGAAGCTCACGCCTGATCTCAG -3'
(R):5'- TGTGGCCTAATTCCTGTGAC -3'

Posted On

2019-06-26