Mutagenetix > Incidental Mutations

Incidental Mutation 'R2046:Bend3'

221985

Institutional Source

Beutler Lab

Gene Symbol

Bend3

Ensembl Gene

ENSMUSG00000038214

Gene Name

BEN domain containing 3

Synonyms

MMRRC Submission

040053-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43478831-43515396 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43511846 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 745 (F745S)

Ref Sequence

ENSEMBL: ENSMUSP00000127351 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040147
AA Change: F745S

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

SMART Domains

Protein: ENSMUSP00000047251
Gene: ENSMUSG00000038214
AA Change: F745S

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: F745S

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

SMART Domains

Protein: ENSMUSP00000127351
Gene: ENSMUSG00000038214
AA Change: F745S

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

Meta Mutation Damage Score

0.8456

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	A	2: 130,810,917	I42L	possibly damaging	Het
4930503L19Rik	T	A	18: 70,467,482	D84V	probably damaging	Het
Abcc5	A	T	16: 20,399,817	S272T	possibly damaging	Het
Adgre4	A	G	17: 55,778,847	N49D	possibly damaging	Het
Ap2b1	A	T	11: 83,336,386	Y328F	probably benign	Het
Arhgef33	G	C	17: 80,373,466	E678D	probably benign	Het
Arid2	G	A	15: 96,369,387	V583I	probably damaging	Het
Bdkrb1	T	A	12: 105,604,726	S184T	probably benign	Het
Card10	A	T	15: 78,787,473	V597E	possibly damaging	Het
Casp3	T	A	8: 46,629,726		probably benign	Het
Ccnb2	A	G	9: 70,409,347	V340A	probably benign	Het
Cdkl3	G	T	11: 52,026,850	V325L	probably benign	Het
Clec4n	T	A	6: 123,246,504	N153K	probably benign	Het
Crtac1	C	T	19: 42,334,053	V83I	probably damaging	Het
Cul9	C	A	17: 46,543,733	L14F	probably damaging	Het
Dgka	T	C	10: 128,723,535	Y519C	probably damaging	Het
Dhrs7	T	G	12: 72,652,266	K314T	possibly damaging	Het
Dnah10	G	T	5: 124,796,341	K2542N	probably benign	Het
Dock5	A	T	14: 67,812,142	V731E	probably benign	Het
Dpy19l1	T	A	9: 24,423,159	H571L	probably damaging	Het
Dzip1	A	T	14: 118,922,478	I106N	probably damaging	Het
Eif2ak4	A	T	2: 118,451,408		probably benign	Het
Epha4	T	C	1: 77,507,162	Y70C	probably damaging	Het
Eps15	T	C	4: 109,370,596	F344S	probably damaging	Het
Erbb4	C	T	1: 68,298,323	R612Q	probably benign	Het
Fam83h	T	C	15: 76,002,938	H850R	probably benign	Het
Fancg	A	G	4: 43,004,604	C484R	probably damaging	Het
Fzd9	A	G	5: 135,249,684	I449T	probably damaging	Het
Gm10647	A	G	9: 66,798,237		probably benign	Het
Gm4951	T	A	18: 60,245,499	H35Q	probably benign	Het
Itga11	C	T	9: 62,727,697	L86F	probably damaging	Het
Lamc2	C	T	1: 153,141,765	R492H	probably benign	Het
March6	A	G	15: 31,486,434	V325A	probably benign	Het
Myo5b	A	T	18: 74,577,455	I47F	probably benign	Het
Nek9	T	A	12: 85,320,707		probably benign	Het
Nelfb	T	A	2: 25,206,311	N262I	probably damaging	Het
Neurl4	A	G	11: 69,908,697	D942G	probably damaging	Het
Nipbl	G	A	15: 8,324,467	P1729S	probably benign	Het
Nr4a3	A	G	4: 48,067,807	T468A	possibly damaging	Het
Nrm	G	A	17: 35,864,217	V146I	probably benign	Het
Olfr1099	C	A	2: 86,958,733	A242S	possibly damaging	Het
Pitx3	T	C	19: 46,137,179	E42G	possibly damaging	Het
Pkd1l2	C	T	8: 116,999,955	A2271T	probably damaging	Het
Pofut2	A	G	10: 77,260,594	N51S	probably damaging	Het
Ppp1r3a	T	C	6: 14,722,104	E273G	probably benign	Het
Psme4	A	G	11: 30,817,723		probably benign	Het
Pus7l	T	C	15: 94,540,785	I60V	probably benign	Het
Pygo2	T	A	3: 89,433,148	N284K	possibly damaging	Het
Ralgapa1	C	T	12: 55,695,160	C1368Y	probably damaging	Het
Rbm45	G	A	2: 76,375,398	G198E	probably benign	Het
Reln	T	C	5: 21,942,627	I2442V	probably benign	Het
Rmi1	T	C	13: 58,407,958	V7A	probably benign	Het
Rsf1	T	C	7: 97,661,677	L538P	probably benign	Het
Rsph4a	T	G	10: 33,914,543		probably benign	Het
Sardh	A	T	2: 27,215,082	D676E	possibly damaging	Het
Sh3tc2	A	G	18: 61,990,843	M892V	probably benign	Het
Slc38a11	A	G	2: 65,358,185	F80S	probably damaging	Het
Slc6a2	C	A	8: 92,972,926	S194*	probably null	Het
Slco2b1	A	G	7: 99,690,479	F86L	probably damaging	Het
Smc3	G	A	19: 53,639,414	D875N	probably benign	Het
Sp100	G	A	1: 85,709,065	E575K	possibly damaging	Het
Spns2	A	G	11: 72,459,040	L196P	possibly damaging	Het
Taf8	A	G	17: 47,490,276	S261P	probably benign	Het
Trim2	A	G	3: 84,208,289	L86P	probably damaging	Het
Ttn	C	A	2: 76,907,794	V4134F	probably benign	Het
Ush2a	A	G	1: 188,356,927	T360A	probably benign	Het
Usp28	T	A	9: 49,039,075	C935S	probably damaging	Het
Vps37d	T	A	5: 135,073,977	M134L	probably benign	Het
Vwa2	T	G	19: 56,905,578	V329G	probably benign	Het
Zfp110	A	G	7: 12,849,422	R666G	probably benign	Het

Other mutations in Bend3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Bend3	APN	10	43511543	missense	probably damaging	1.00
IGL00977:Bend3	APN	10	43510949	missense	possibly damaging	0.95
IGL00980:Bend3	APN	10	43511566	missense	probably damaging	1.00
IGL02457:Bend3	APN	10	43509950	missense	probably damaging	0.99
PIT4515001:Bend3	UTSW	10	43510634	missense	probably damaging	0.98
R0148:Bend3	UTSW	10	43511950	missense	probably damaging	1.00
R1484:Bend3	UTSW	10	43510201	missense	probably benign
R2098:Bend3	UTSW	10	43510504	missense	probably damaging	1.00
R3419:Bend3	UTSW	10	43509982	missense	probably damaging	1.00
R3854:Bend3	UTSW	10	43510717	unclassified	probably benign
R4449:Bend3	UTSW	10	43512083	missense	possibly damaging	0.90
R4765:Bend3	UTSW	10	43510750	missense	probably damaging	1.00
R5070:Bend3	UTSW	10	43493685	missense	probably damaging	0.99
R5299:Bend3	UTSW	10	43493690	critical splice donor site	probably null
R5456:Bend3	UTSW	10	43510546	missense	probably damaging	1.00
R5530:Bend3	UTSW	10	43511726	missense	probably damaging	1.00
R5976:Bend3	UTSW	10	43510544	missense	probably benign	0.00
R6173:Bend3	UTSW	10	43509868	missense	probably benign	0.00
R7227:Bend3	UTSW	10	43511405	missense	probably damaging	1.00
R7256:Bend3	UTSW	10	43493671	missense	probably benign	0.12
RF010:Bend3	UTSW	10	43510184	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GTTACGCAATCAACCCCGAGAG -3'
(R):5'- CACCGCTCATCAATGCTAGG -3'

Sequencing Primer
(F):5'- CCCTCTGCCTCCTGAAAGG -3'
(R):5'- GCTAGGTATACATTCATAGTGCCAC -3'

Posted On

2014-08-25