Mutagenetix > Incidental Mutation

Incidental Mutation 'R5299:Bend3'

405571

Institutional Source

Beutler Lab

Gene Symbol

Bend3

Ensembl Gene

ENSMUSG00000038214

Gene Name

BEN domain containing 3

Synonyms

MMRRC Submission

042882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5299 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

43355130-43391413 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 43369686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040147] [ENSMUST00000167488] [ENSMUST00000214116] [ENSMUST00000216679]

AlphaFold

Q6PAL0

Predicted Effect

probably null
Transcript: ENSMUST00000040147

SMART Domains

Protein: ENSMUSP00000047251
Gene: ENSMUSG00000038214

Domain	Start	End	E-Value	Type
low complexity region	159	172	N/A	INTRINSIC
BEN	261	340	1.76e-15	SMART
BEN	405	484	5.75e-20	SMART
BEN	568	647	4.71e-16	SMART
low complexity region	674	690	N/A	INTRINSIC
low complexity region	704	715	N/A	INTRINSIC
BEN	734	813	1.02e-20	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000167488

SMART Domains

Protein: ENSMUSP00000127351
Gene: ENSMUSG00000038214

Domain	Start	End	E-Value	Type
low complexity region	159	172	N/A	INTRINSIC
BEN	261	340	1.76e-15	SMART
BEN	405	484	5.75e-20	SMART
BEN	568	647	4.71e-16	SMART
low complexity region	674	690	N/A	INTRINSIC
low complexity region	704	715	N/A	INTRINSIC
BEN	734	813	1.02e-20	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000214116

Predicted Effect

probably null
Transcript: ENSMUST00000216679

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,381,861 (GRCm39)	I3838V	probably damaging	Het
Arid1a	A	T	4: 133,414,537 (GRCm39)	D1231E	unknown	Het
Atxn1	A	T	13: 45,710,730 (GRCm39)	I734K	probably benign	Het
Axin1	A	G	17: 26,392,708 (GRCm39)	S330G	probably damaging	Het
Chodl	C	T	16: 78,738,296 (GRCm39)	T88I	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dst	A	G	1: 34,174,173 (GRCm39)	I179M	probably damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Exoc2	A	T	13: 31,055,901 (GRCm39)		probably null	Het
Grk2	T	C	19: 4,342,799 (GRCm39)	E45G	probably damaging	Het
Ift81	T	C	5: 122,745,119 (GRCm39)	Y144C	probably damaging	Het
Ighv1-15	T	C	12: 114,620,998 (GRCm39)	D109G	probably damaging	Het
Igtp	T	C	11: 58,097,959 (GRCm39)	W377R	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Map2k6	A	G	11: 110,383,789 (GRCm39)	D145G	probably benign	Het
Mcph1	T	C	8: 18,702,596 (GRCm39)		probably benign	Het
Mdfi	A	G	17: 48,131,759 (GRCm39)	V95A	possibly damaging	Het
Mical3	A	G	6: 120,936,473 (GRCm39)	L1351P	possibly damaging	Het
Nbas	C	T	12: 13,491,926 (GRCm39)	Q1506*	probably null	Het
Nelfb	A	G	2: 25,100,757 (GRCm39)	V128A	probably benign	Het
Otog	A	G	7: 45,938,275 (GRCm39)	T1995A	probably benign	Het
Ppp1r7	A	T	1: 93,280,348 (GRCm39)	I139L	probably benign	Het
Ppp2r1b	A	G	9: 50,768,340 (GRCm39)	D19G	probably benign	Het
Proca1	T	C	11: 78,096,078 (GRCm39)	S150P	probably damaging	Het
Rhof	A	G	5: 123,258,611 (GRCm39)	V100A	probably damaging	Het
Rsbn1	G	C	3: 103,821,806 (GRCm39)	G14R	probably benign	Het
Serinc1	A	G	10: 57,399,147 (GRCm39)	I252T	probably damaging	Het
Skint4	A	T	4: 111,993,203 (GRCm39)	I309F	possibly damaging	Het
Slc12a3	A	G	8: 95,078,417 (GRCm39)	Y815C	probably damaging	Het
Slc25a24	A	G	3: 109,073,668 (GRCm39)	S424G	probably benign	Het
Spint2	G	A	7: 28,963,151 (GRCm39)	A49V	probably damaging	Het
Traf3ip3	T	A	1: 192,860,483 (GRCm39)	K480*	probably null	Het
Ube2g2	T	C	10: 77,480,379 (GRCm39)	S162P	possibly damaging	Het
Ubxn8	C	A	8: 34,131,947 (GRCm39)	V7L	possibly damaging	Het
Vmn1r200	T	A	13: 22,579,945 (GRCm39)	C249*	probably null	Het
Vmn1r38	T	A	6: 66,753,682 (GRCm39)	T145S	probably benign	Het
Wapl	G	A	14: 34,455,765 (GRCm39)		probably null	Het
Wfdc6a	T	C	2: 164,422,311 (GRCm39)	N96S	possibly damaging	Het
Zfp503	A	G	14: 22,035,507 (GRCm39)	S470P	probably benign	Het

Other mutations in Bend3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Bend3	APN	10	43,387,539 (GRCm39)	missense	probably damaging	1.00
IGL00977:Bend3	APN	10	43,386,945 (GRCm39)	missense	possibly damaging	0.95
IGL00980:Bend3	APN	10	43,387,562 (GRCm39)	missense	probably damaging	1.00
IGL02457:Bend3	APN	10	43,385,946 (GRCm39)	missense	probably damaging	0.99
PIT4515001:Bend3	UTSW	10	43,386,630 (GRCm39)	missense	probably damaging	0.98
R0148:Bend3	UTSW	10	43,387,946 (GRCm39)	missense	probably damaging	1.00
R1484:Bend3	UTSW	10	43,386,197 (GRCm39)	missense	probably benign
R2046:Bend3	UTSW	10	43,387,842 (GRCm39)	missense	probably damaging	1.00
R2098:Bend3	UTSW	10	43,386,500 (GRCm39)	missense	probably damaging	1.00
R3419:Bend3	UTSW	10	43,385,978 (GRCm39)	missense	probably damaging	1.00
R3854:Bend3	UTSW	10	43,386,713 (GRCm39)	unclassified	probably benign
R4449:Bend3	UTSW	10	43,388,079 (GRCm39)	missense	possibly damaging	0.90
R4765:Bend3	UTSW	10	43,386,746 (GRCm39)	missense	probably damaging	1.00
R5070:Bend3	UTSW	10	43,369,681 (GRCm39)	missense	probably damaging	0.99
R5456:Bend3	UTSW	10	43,386,542 (GRCm39)	missense	probably damaging	1.00
R5530:Bend3	UTSW	10	43,387,722 (GRCm39)	missense	probably damaging	1.00
R5976:Bend3	UTSW	10	43,386,540 (GRCm39)	missense	probably benign	0.00
R6173:Bend3	UTSW	10	43,385,864 (GRCm39)	missense	probably benign	0.00
R7227:Bend3	UTSW	10	43,387,401 (GRCm39)	missense	probably damaging	1.00
R7256:Bend3	UTSW	10	43,369,667 (GRCm39)	missense	probably benign	0.12
R8273:Bend3	UTSW	10	43,386,899 (GRCm39)	missense	probably damaging	1.00
R9328:Bend3	UTSW	10	43,387,419 (GRCm39)	missense	possibly damaging	0.89
R9739:Bend3	UTSW	10	43,385,847 (GRCm39)	missense	possibly damaging	0.95
RF010:Bend3	UTSW	10	43,386,180 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GGGGACACACTTCCTTAAGTC -3'
(R):5'- GCTTGCCAATGCCTGATCAC -3'

Sequencing Primer
(F):5'- GTCAAGGTTACTTAATCGTTGTTCC -3'
(R):5'- GCCAATGCCTGATCACATGTC -3'

Posted On

2016-07-22