Mutagenetix > Incidental Mutation

Incidental Mutation 'R5530:Bend3'

433644

Institutional Source

Beutler Lab

Gene Symbol

Bend3

Ensembl Gene

ENSMUSG00000038214

Gene Name

BEN domain containing 3

Synonyms

MMRRC Submission

043088-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5530 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43355130-43391413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43387722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 705 (V705D)

Ref Sequence

ENSEMBL: ENSMUSP00000127351 (fasta)

Gene Model

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

AlphaFold

Q6PAL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040147
AA Change: V705D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047251
Gene: ENSMUSG00000038214
AA Change: V705D

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 damaging
Transcript: ENSMUST00000167488
AA Change: V705D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127351
Gene: ENSMUSG00000038214
AA Change: V705D

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 benign
Transcript: ENSMUST00000214116

Predicted Effect

probably benign
Transcript: ENSMUST00000216679

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.3%
20x: 91.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,154,556 (GRCm39)		probably benign	Het
Anapc2	A	G	2: 25,174,595 (GRCm39)	K653E	possibly damaging	Het
Aplp1	T	C	7: 30,136,254 (GRCm39)	S508G	possibly damaging	Het
Btaf1	C	A	19: 36,968,175 (GRCm39)	A1120E	possibly damaging	Het
Carmil3	T	C	14: 55,731,081 (GRCm39)	V116A	probably damaging	Het
Cdk5rap3	A	T	11: 96,802,459 (GRCm39)	Y238*	probably null	Het
Cep170	T	C	1: 176,597,076 (GRCm39)	H427R	probably benign	Het
Cubn	G	A	2: 13,313,334 (GRCm39)	R3079W	probably damaging	Het
Edc4	G	T	8: 106,615,886 (GRCm39)	E694*	probably null	Het
Entrep1	T	A	19: 23,952,958 (GRCm39)	T451S	probably benign	Het
Epb41l4b	A	G	4: 57,086,003 (GRCm39)	S191P	probably damaging	Het
Fbxo46	T	C	7: 18,870,727 (GRCm39)	Y449H	probably damaging	Het
Ficd	C	A	5: 113,876,986 (GRCm39)	P387Q	probably damaging	Het
Grin2b	T	C	6: 135,710,721 (GRCm39)	T942A	probably benign	Het
Hoxb1	G	C	11: 96,257,754 (GRCm39)	R228P	probably damaging	Het
Jmjd1c	T	C	10: 67,085,541 (GRCm39)	F2444L	probably damaging	Het
Kcnj2	T	C	11: 110,962,917 (GRCm39)	F103S	probably damaging	Het
Mapkbp1	A	G	2: 119,845,836 (GRCm39)	I402V	probably benign	Het
Mtcl2	T	A	2: 156,862,262 (GRCm39)	S1556C	probably damaging	Het
Mvp	A	G	7: 126,595,095 (GRCm39)	V250A	probably benign	Het
Myo1b	T	A	1: 51,836,582 (GRCm39)	N293I	probably damaging	Het
Npy5r	T	A	8: 67,133,512 (GRCm39)	Y427F	probably benign	Het
Nrdc	C	T	4: 108,904,806 (GRCm39)	T747M	probably damaging	Het
Nrxn2	C	T	19: 6,548,397 (GRCm39)	P30L	possibly damaging	Het
Nt5dc3	T	C	10: 86,656,857 (GRCm39)	F332S	probably damaging	Het
Optc	T	G	1: 133,832,828 (GRCm39)	T91P	probably benign	Het
Or14j10	A	G	17: 37,934,698 (GRCm39)	I276T	possibly damaging	Het
Or8b12c	A	G	9: 37,716,103 (GRCm39)	T299A	probably benign	Het
Otud7b	A	T	3: 96,048,799 (GRCm39)	E92V	probably damaging	Het
Pgap4	A	G	4: 49,586,226 (GRCm39)	L314P	probably benign	Het
Pla2g4d	A	G	2: 120,100,036 (GRCm39)	I677T	probably benign	Het
Pot1a	T	C	6: 25,778,893 (GRCm39)	E67G	probably damaging	Het
Ppil6	T	C	10: 41,383,494 (GRCm39)	S257P	probably damaging	Het
Ppp1r14a	T	C	7: 28,988,791 (GRCm39)	L11P	probably benign	Het
Ppp1r14bl	A	T	1: 23,141,071 (GRCm39)	I81N	probably damaging	Het
Pramel13	A	T	4: 144,119,232 (GRCm39)	M445K	probably benign	Het
Rad21l	A	T	2: 151,499,430 (GRCm39)	I257K	probably benign	Het
Rbm11	A	G	16: 75,389,861 (GRCm39)	D9G	possibly damaging	Het
Rhbdf2	T	C	11: 116,491,488 (GRCm39)	Y586C	probably damaging	Het
Rxfp2	A	T	5: 149,980,275 (GRCm39)	I276F	probably damaging	Het
Sec14l4	A	G	11: 3,996,342 (GRCm39)	*404W	probably null	Het
Sec16a	A	G	2: 26,329,264 (GRCm39)	V917A	probably benign	Het
Sec61a2	A	T	2: 5,887,461 (GRCm39)	Y131*	probably null	Het
Sspo	A	T	6: 48,442,517 (GRCm39)	Y2004F	probably damaging	Het
Stab2	T	C	10: 86,783,026 (GRCm39)	E674G	probably benign	Het
Tmf1	A	G	6: 97,135,048 (GRCm39)	S989P	probably damaging	Het
Tshz1	T	C	18: 84,031,393 (GRCm39)	D1005G	probably damaging	Het
Wdr19	T	C	5: 65,385,562 (GRCm39)	S555P	probably benign	Het
Zdhhc24	T	A	19: 4,933,591 (GRCm39)		probably null	Het
Zfp558	A	G	9: 18,367,669 (GRCm39)	M373T	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
R5299:Bend3	UTSW	10	43,369,686 (GRCm39)	critical splice donor site	probably null
R5456:Bend3	UTSW	10	43,386,542 (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'- TGGAGTTCGTAGGCAAGCTG -3'
(R):5'- CTTCTTGTTACAAGCCCCGG -3'

Sequencing Primer
(F):5'- TTCGTAGGCAAGCTGGACGAG -3'
(R):5'- TTGTTACAAGCCCCGGAGTGG -3'

Posted On

2016-10-06