Mutagenetix > Incidental Mutation

Incidental Mutation 'R2098:Bend3'

230379

Institutional Source

Beutler Lab

Gene Symbol

Bend3

Ensembl Gene

ENSMUSG00000038214

Gene Name

BEN domain containing 3

Synonyms

MMRRC Submission

040102-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2098 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43355130-43391413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43386500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 298 (S298P)

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: S298P

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

SMART Domains

Protein: ENSMUSP00000047251
Gene: ENSMUSG00000038214
AA Change: S298P

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: S298P

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

SMART Domains

Protein: ENSMUSP00000127351
Gene: ENSMUSG00000038214
AA Change: S298P

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,927,405 (GRCm39)	E1316G	probably damaging	Het
Arhgap32	C	A	9: 32,171,207 (GRCm39)	T1329K	probably damaging	Het
Arhgef10l	G	C	4: 140,306,743 (GRCm39)	L104V	probably damaging	Het
Cacna1b	C	T	2: 24,540,558 (GRCm39)	V1385M	probably damaging	Het
Camk2d	G	A	3: 126,574,091 (GRCm39)	G166D	probably damaging	Het
Cd84	G	A	1: 171,713,148 (GRCm39)	C291Y	probably benign	Het
Cdhr2	A	G	13: 54,863,457 (GRCm39)	I113V	probably benign	Het
Cfap206	G	A	4: 34,719,053 (GRCm39)	Q318*	probably null	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Cyth1	T	A	11: 118,084,479 (GRCm39)	I25F	probably damaging	Het
Dock2	A	T	11: 34,216,279 (GRCm39)	N1208K	probably benign	Het
Dock2	A	G	11: 34,609,832 (GRCm39)	S203P	probably damaging	Het
Ehbp1l1	G	T	19: 5,758,686 (GRCm39)	T1652K	possibly damaging	Het
Eps8l2	G	A	7: 140,935,705 (GRCm39)		probably null	Het
Fam3d	T	C	14: 8,361,479 (GRCm38)	I47V	probably benign	Het
Gm10250	A	G	15: 5,150,296 (GRCm39)		probably benign	Het
Gm9772	T	C	17: 22,225,618 (GRCm39)	H94R	probably benign	Het
Hspg2	G	A	4: 137,247,420 (GRCm39)	G1184D	probably damaging	Het
Igfn1	T	A	1: 135,906,043 (GRCm39)	D255V	probably damaging	Het
Marf1	T	C	16: 13,932,064 (GRCm39)	H1651R	probably benign	Het
Mllt10	T	C	2: 18,167,464 (GRCm39)	V385A	possibly damaging	Het
Mmp1b	G	A	9: 7,386,984 (GRCm39)	S76L	probably benign	Het
Mrps2	C	A	2: 28,358,327 (GRCm39)	T39K	probably benign	Het
Myo6	T	C	9: 80,188,808 (GRCm39)	Y715H	probably damaging	Het
Nsun7	A	G	5: 66,441,055 (GRCm39)	E392G	probably damaging	Het
Obscn	C	T	11: 58,960,817 (GRCm39)	E3374K	probably damaging	Het
Or2a20	G	A	6: 43,194,437 (GRCm39)	V197I	probably benign	Het
Or4c11	A	T	2: 88,695,215 (GRCm39)	I89F	probably benign	Het
Or56a4	A	G	7: 104,806,478 (GRCm39)	V137A	probably benign	Het
Or5w13	A	T	2: 87,524,073 (GRCm39)	M51K	probably benign	Het
Pkd2	C	T	5: 104,626,768 (GRCm39)	P317S	probably damaging	Het
Prl5a1	T	C	13: 28,329,488 (GRCm39)	S56P	probably damaging	Het
Psmd1	A	G	1: 86,009,823 (GRCm39)		probably null	Het
Ptchd3	T	C	11: 121,733,305 (GRCm39)	C732R	probably damaging	Het
Rad51c	A	T	11: 87,293,589 (GRCm39)	V71E	probably benign	Het
Scn11a	A	T	9: 119,621,560 (GRCm39)	I619K	possibly damaging	Het
Sgpp1	T	G	12: 75,763,284 (GRCm39)	D299A	probably damaging	Het
Slc16a4	C	A	3: 107,208,163 (GRCm39)	Y224*	probably null	Het
Slc22a30	G	A	19: 8,378,175 (GRCm39)	S167L	probably damaging	Het
Slc6a5	T	C	7: 49,595,315 (GRCm39)	I559T	probably damaging	Het
Spire1	A	G	18: 67,636,536 (GRCm39)	F364L	probably damaging	Het
Srek1	G	A	13: 103,881,363 (GRCm39)	T421I	unknown	Het
St8sia4	T	C	1: 95,581,253 (GRCm39)	H163R	probably damaging	Het
Supt6	A	G	11: 78,104,087 (GRCm39)		probably null	Het
Tas2r103	T	C	6: 133,013,560 (GRCm39)	T169A	probably benign	Het
Thrap3	A	G	4: 126,073,823 (GRCm39)	S308P	probably damaging	Het
V1rd19	C	T	7: 23,703,160 (GRCm39)	L209F	probably damaging	Het
Zfp267	T	A	3: 36,220,289 (GRCm39)	S771T	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
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
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'- AGCAAGATGGACCTGCTGTC -3'
(R):5'- TCGAAGAAGTTGGTGACCTGG -3'

Sequencing Primer
(F):5'- TCAAGAAGCAGGTGAGCCCTTC -3'
(R):5'- TTGGTGACCTGGCCGCC -3'

Posted On

2014-09-18