Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01311:Borcs8'

73691

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Borcs8

Ensembl Gene

ENSMUSG00000002345

Gene Name

BLOC-1 related complex subunit 8

Synonyms

2310045N01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL01311

Quality Score

Status

Chromosome

Chromosomal Location

70592149-70599969 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70617818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 59 (S59G)

Ref Sequence

ENSEMBL: ENSMUSP00000105770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110140] [ENSMUST00000110141] [ENSMUST00000110143] [ENSMUST00000110146] [ENSMUST00000163756]

AlphaFold

Q9D6Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000110140
AA Change: S59G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105767
Gene: ENSMUSG00000079033
AA Change: S59G

Domain	Start	End	E-Value	Type
MADS	1	60	3.15e-34	SMART
low complexity region	97	114	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110141
AA Change: S59G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105768
Gene: ENSMUSG00000079033
AA Change: S59G

Domain	Start	End	E-Value	Type
MADS	1	60	3.15e-34	SMART
low complexity region	97	114	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110143
AA Change: S59G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105770
Gene: ENSMUSG00000079033
AA Change: S59G

Domain	Start	End	E-Value	Type
MADS	1	60	3.15e-34	SMART
low complexity region	97	114	N/A	INTRINSIC
low complexity region	275	287	N/A	INTRINSIC
low complexity region	310	325	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110146
AA Change: S59G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105773
Gene: ENSMUSG00000079033
AA Change: S59G

Domain	Start	End	E-Value	Type
MADS	1	60	3.15e-34	SMART
low complexity region	97	114	N/A	INTRINSIC
low complexity region	285	297	N/A	INTRINSIC
low complexity region	320	335	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163756
AA Change: S59G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033
AA Change: S59G

Domain	Start	End	E-Value	Type
MADS	1	60	3.15e-34	SMART
low complexity region	97	114	N/A	INTRINSIC
low complexity region	285	297	N/A	INTRINSIC
low complexity region	320	335	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	T	7: 101,037,343 (GRCm39)	K457*	probably null	Het
Arhgef10	C	A	8: 15,041,054 (GRCm39)		probably null	Het
Becn1	C	T	11: 101,182,342 (GRCm39)	G281S	probably damaging	Het
Brd10	C	T	19: 29,731,420 (GRCm39)	V531I	probably benign	Het
Capn5	C	A	7: 97,811,130 (GRCm39)	R53L	probably damaging	Het
Cdk5	C	T	5: 24,624,593 (GRCm39)		probably null	Het
Cnksr1	A	G	4: 133,957,777 (GRCm39)	L434P	probably damaging	Het
Col22a1	C	T	15: 71,845,486 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,667,299 (GRCm39)	D811G	probably damaging	Het
Haus3	G	A	5: 34,324,988 (GRCm39)	Q224*	probably null	Het
Jakmip2	A	G	18: 43,690,389 (GRCm39)		probably benign	Het
Jam3	T	G	9: 27,010,019 (GRCm39)	T296P	probably damaging	Het
Kcnrg	T	C	14: 61,849,274 (GRCm39)	L245P	probably damaging	Het
Kif1b	A	G	4: 149,305,059 (GRCm39)	L909P	probably damaging	Het
Klrc3	T	C	6: 129,618,375 (GRCm39)	D136G	probably damaging	Het
Lrrc37	T	A	11: 103,425,502 (GRCm39)	R1450S	unknown	Het
Ltf	T	C	9: 110,860,080 (GRCm39)		probably benign	Het
Meig1	A	T	2: 3,410,245 (GRCm39)	V85D	possibly damaging	Het
Mrgprb2	T	A	7: 48,201,746 (GRCm39)	E326D	probably benign	Het
Nlrp2	T	A	7: 5,322,238 (GRCm39)	D65V	possibly damaging	Het
Or4c100	T	C	2: 88,356,104 (GRCm39)	F59S	possibly damaging	Het
Or52h7	T	C	7: 104,214,036 (GRCm39)	Y203H	probably damaging	Het
Padi2	G	A	4: 140,644,948 (GRCm39)	V61I	probably benign	Het
Pkd1l1	T	C	11: 8,851,174 (GRCm39)	S753G	possibly damaging	Het
Ppp4r3b	T	C	11: 29,144,591 (GRCm39)	S314P	probably benign	Het
Serpina3i	T	C	12: 104,233,946 (GRCm39)	S305P	probably damaging	Het
Slc16a4	G	T	3: 107,199,821 (GRCm39)	V23F	possibly damaging	Het
Slc25a34	G	A	4: 141,348,747 (GRCm39)	T239I	possibly damaging	Het
Srebf2	T	C	15: 82,076,404 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,625,885 (GRCm39)	V1355A	possibly damaging	Het
Tcf12	A	T	9: 71,765,938 (GRCm39)		probably benign	Het
Tnpo3	T	C	6: 29,586,077 (GRCm39)	E171G	possibly damaging	Het
Ubr4	A	G	4: 139,206,356 (GRCm39)	H4864R	possibly damaging	Het
Vmn2r108	A	T	17: 20,682,939 (GRCm39)	L755*	probably null	Het
Zfp292	C	T	4: 34,807,961 (GRCm39)	M1699I	probably benign	Het
Zmynd8	T	C	2: 165,647,129 (GRCm39)	D880G	probably damaging	Het

Other mutations in Borcs8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Borcs8	APN	8	70,597,757 (GRCm39)	missense	probably benign	0.00
IGL02090:Borcs8	APN	8	70,619,030 (GRCm39)	missense	probably damaging	1.00
IGL02178:Borcs8	APN	8	70,617,897 (GRCm39)	missense	probably damaging	1.00
IGL02690:Borcs8	APN	8	70,617,738 (GRCm39)	missense	probably damaging	1.00
R0015:Borcs8	UTSW	8	70,593,017 (GRCm39)	unclassified	probably benign
R5061:Borcs8	UTSW	8	70,593,008 (GRCm39)	critical splice donor site	probably null
R9269:Borcs8	UTSW	8	70,594,521 (GRCm39)	missense	probably benign	0.31
Z1176:Borcs8	UTSW	8	70,594,621 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-10-07