Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00232:Bend6'

2539

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bend6

Ensembl Gene

ENSMUSG00000042182

Gene Name

BEN domain containing 6

Synonyms

B230209C24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

IGL00232

Quality Score

Status

Chromosome

Chromosomal Location

33891133-33946897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33922619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 8 (D8G)

Ref Sequence

ENSEMBL: ENSMUSP00000052919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062289] [ENSMUST00000115161] [ENSMUST00000129464]

AlphaFold

Q6PFX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062289
AA Change: D8G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052919
Gene: ENSMUSG00000042182
AA Change: D8G

Domain	Start	End	E-Value	Type
coiled coil region	19	40	N/A	INTRINSIC
coiled coil region	61	100	N/A	INTRINSIC
low complexity region	143	160	N/A	INTRINSIC
BEN	190	271	4.6e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115161

SMART Domains

Protein: ENSMUSP00000110814
Gene: ENSMUSG00000042182

Domain	Start	End	E-Value	Type
coiled coil region	1	38	N/A	INTRINSIC
low complexity region	81	98	N/A	INTRINSIC
BEN	128	209	5.67e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126724

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129464
AA Change: D8G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195350

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	A	15: 81,950,581 (GRCm39)	Q1493K	probably benign	Het
Anapc1	A	T	2: 128,487,050 (GRCm39)		probably benign	Het
Armc8	T	C	9: 99,387,787 (GRCm39)		probably null	Het
Asz1	T	G	6: 18,055,541 (GRCm39)		probably null	Het
Atp6v0a4	G	A	6: 38,069,725 (GRCm39)	R56*	probably null	Het
Ccdc171	T	A	4: 83,600,561 (GRCm39)	C870*	probably null	Het
Cd163	A	G	6: 124,306,060 (GRCm39)		probably benign	Het
Chd2	A	G	7: 73,118,325 (GRCm39)	S1098P	probably damaging	Het
Col6a5	T	G	9: 105,759,882 (GRCm39)	D1946A	probably damaging	Het
Gm6576	T	A	15: 27,025,884 (GRCm39)		noncoding transcript	Het
Gypa	T	G	8: 81,231,408 (GRCm39)		probably benign	Het
Ighv9-3	T	C	12: 114,104,691 (GRCm39)		probably benign	Het
Itgb1	T	G	8: 129,440,399 (GRCm39)		probably benign	Het
Kctd15	A	T	7: 34,350,170 (GRCm39)		probably null	Het
Krtap13	A	C	16: 88,548,423 (GRCm39)	S22A	possibly damaging	Het
Masp1	C	T	16: 23,276,841 (GRCm39)	E555K	possibly damaging	Het
Med13l	T	A	5: 118,862,136 (GRCm39)	S360T	probably damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mfsd13a	A	G	19: 46,354,958 (GRCm39)	Y45C	probably damaging	Het
Neb	T	C	2: 52,125,568 (GRCm39)	D3662G	possibly damaging	Het
Nkx6-1	T	C	5: 101,807,371 (GRCm39)	D337G	possibly damaging	Het
Nlrc5	T	C	8: 95,211,251 (GRCm39)		probably null	Het
Palb2	T	C	7: 121,720,287 (GRCm39)	H468R	probably damaging	Het
Plscr1l1	C	T	9: 92,233,005 (GRCm39)	R43*	probably null	Het
Rai1	T	G	11: 60,076,217 (GRCm39)	Y94D	probably damaging	Het
Slc27a3	A	T	3: 90,292,748 (GRCm39)	Y605*	probably null	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Trpm7	T	C	2: 126,670,951 (GRCm39)	E677G	possibly damaging	Het
Tstd2	A	T	4: 46,120,002 (GRCm39)		probably benign	Het
Unc5c	T	C	3: 141,494,701 (GRCm39)	I412T	probably damaging	Het

Other mutations in Bend6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02009:Bend6	APN	1	33,901,827 (GRCm39)	missense	probably benign	0.00
R0408:Bend6	UTSW	1	33,901,834 (GRCm39)	missense	probably damaging	1.00
R1449:Bend6	UTSW	1	33,917,424 (GRCm39)	missense	probably benign	0.00
R1469:Bend6	UTSW	1	33,903,824 (GRCm39)	missense	probably benign	0.24
R1469:Bend6	UTSW	1	33,903,824 (GRCm39)	missense	probably benign	0.24
R4836:Bend6	UTSW	1	33,922,654 (GRCm39)	utr 5 prime	probably benign
R5818:Bend6	UTSW	1	33,922,654 (GRCm39)	utr 5 prime	probably benign
R5871:Bend6	UTSW	1	33,902,946 (GRCm39)	missense	probably damaging	0.96
R5995:Bend6	UTSW	1	33,917,520 (GRCm39)	critical splice acceptor site	probably null
R6196:Bend6	UTSW	1	33,917,509 (GRCm39)	missense	probably damaging	0.99
Z1176:Bend6	UTSW	1	33,903,604 (GRCm39)	missense	probably null	1.00

Posted On

2011-12-09