Mutagenetix > Incidental Mutation

Incidental Mutation 'R5695:Bend7'

443853

Institutional Source

Beutler Lab

Gene Symbol

Bend7

Ensembl Gene

ENSMUSG00000048186

Gene Name

BEN domain containing 7

Synonyms

E130319B15Rik, 1110017O21Rik

MMRRC Submission

043326-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5695 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4722642-4806953 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4768052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 336 (R336Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056914] [ENSMUST00000115022] [ENSMUST00000184139]

AlphaFold

Q8BSV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000056914
AA Change: R336Q

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

SMART Domains

Protein: ENSMUSP00000052458
Gene: ENSMUSG00000048186
AA Change: R336Q

Domain	Start	End	E-Value	Type
low complexity region	213	220	N/A	INTRINSIC
BEN	311	395	5.12e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115022
AA Change: R336Q

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

SMART Domains

Protein: ENSMUSP00000110674
Gene: ENSMUSG00000048186
AA Change: R336Q

Domain	Start	End	E-Value	Type
low complexity region	213	220	N/A	INTRINSIC
BEN	311	395	5.12e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138322

Predicted Effect

probably damaging
Transcript: ENSMUST00000184139
AA Change: R336Q

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

SMART Domains

Protein: ENSMUSP00000139220
Gene: ENSMUSG00000048186
AA Change: R336Q

Domain	Start	End	E-Value	Type
low complexity region	213	220	N/A	INTRINSIC
BEN	311	395	5.12e-17	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,660,745 (GRCm39)	H116L	probably damaging	Het
Anapc4	C	T	5: 53,019,581 (GRCm39)	S581L	probably benign	Het
Ano8	A	C	8: 71,935,887 (GRCm39)	D276E	probably damaging	Het
Aspm	G	A	1: 139,407,407 (GRCm39)	R2098H	probably benign	Het
Bpifb4	G	A	2: 153,784,843 (GRCm39)	G184S	probably damaging	Het
Cbx8	T	C	11: 118,930,137 (GRCm39)	D152G	probably benign	Het
Cdca2	A	G	14: 67,943,078 (GRCm39)		probably null	Het
Cgn	G	A	3: 94,680,945 (GRCm39)	A531V	probably benign	Het
Cmya5	C	A	13: 93,182,374 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,935,769 (GRCm39)	S365P	probably damaging	Het
Crnn	A	G	3: 93,056,330 (GRCm39)	Q372R	probably damaging	Het
Ehf	T	A	2: 103,097,124 (GRCm39)	E276V	probably damaging	Het
Eif4g3	T	A	4: 137,890,744 (GRCm39)		probably null	Het
Enpep	C	T	3: 129,102,748 (GRCm39)	D403N	probably damaging	Het
Enpp1	T	C	10: 24,530,806 (GRCm39)	E550G	probably damaging	Het
Entpd8	A	G	2: 24,974,346 (GRCm39)	D377G	probably benign	Het
Epc2	T	A	2: 49,437,619 (GRCm39)		probably null	Het
Erich3	G	T	3: 154,439,210 (GRCm39)	G481V	probably damaging	Het
Fank1	A	G	7: 133,471,075 (GRCm39)	Y156C	probably damaging	Het
Fras1	A	G	5: 96,929,203 (GRCm39)	D3869G	probably damaging	Het
Gcnt2	A	G	13: 41,071,675 (GRCm39)	D106G	probably benign	Het
Gm20830	A	T	Y: 6,916,501 (GRCm39)	V206E	probably benign	Het
Gmpr2	T	C	14: 55,914,691 (GRCm39)	V228A	possibly damaging	Het
Gon4l	TGAGCA	TGAGCAGAGCA	3: 88,803,523 (GRCm39)		probably null	Het
Gtpbp1	G	A	15: 79,596,375 (GRCm39)		probably null	Het
Hhat	A	T	1: 192,399,327 (GRCm39)	M271K	probably damaging	Het
Hipk2	A	T	6: 38,795,810 (GRCm39)	M153K	possibly damaging	Het
Hydin	A	T	8: 111,261,915 (GRCm39)	H2672L	probably benign	Het
Igfbpl1	A	T	4: 45,826,374 (GRCm39)	D140E	probably damaging	Het
Kctd1	T	G	18: 15,196,573 (GRCm39)		probably benign	Het
Lax1	A	T	1: 133,608,316 (GRCm39)	Y142N	probably damaging	Het
Lpin2	C	T	17: 71,551,798 (GRCm39)	R733C	probably damaging	Het
Morn4	A	G	19: 42,064,556 (GRCm39)	L144P	possibly damaging	Het
Nup214	C	A	2: 31,924,385 (GRCm39)	T1638K	probably damaging	Het
Nyap1	C	T	5: 137,733,246 (GRCm39)	A596T	probably damaging	Het
Oas1d	T	C	5: 121,053,074 (GRCm39)	M43T	probably benign	Het
Or4l15	T	C	14: 50,198,080 (GRCm39)	T150A	probably benign	Het
Or6x1	T	C	9: 40,098,897 (GRCm39)	V162A	probably benign	Het
Or8b42	A	G	9: 38,342,472 (GRCm39)	H298R	probably benign	Het
Pacs1	A	G	19: 5,186,819 (GRCm39)	F851S	probably damaging	Het
Pcdh17	A	G	14: 84,683,800 (GRCm39)	Q89R	probably damaging	Het
Phrf1	A	G	7: 140,838,378 (GRCm39)		probably benign	Het
Plekhb1	A	T	7: 100,304,602 (GRCm39)	I34N	probably damaging	Het
Ralgapa2	T	C	2: 146,175,397 (GRCm39)	E1800G	probably damaging	Het
Rbm33	A	T	5: 28,544,010 (GRCm39)	I89F	probably damaging	Het
Rtl1	T	A	12: 109,560,531 (GRCm39)	E436V	probably damaging	Het
Slc2a4	G	T	11: 69,837,217 (GRCm39)	P73Q	probably damaging	Het
Sorbs2	A	T	8: 46,245,912 (GRCm39)	T311S	probably benign	Het
Sulf2	G	A	2: 165,974,678 (GRCm39)	A2V	probably benign	Het
Supt16	A	T	14: 52,411,601 (GRCm39)		probably null	Het
Vmn1r26	A	T	6: 57,985,738 (GRCm39)	N150K	probably damaging	Het
Vmn2r39	T	A	7: 9,028,150 (GRCm39)	H407L	possibly damaging	Het
Vmn2r84	T	A	10: 130,225,064 (GRCm39)	Y482F	probably benign	Het
Vps9d1	T	C	8: 123,973,655 (GRCm39)	E376G	probably benign	Het
Wrn	C	A	8: 33,814,346 (GRCm39)	G366V	probably benign	Het

Other mutations in Bend7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02541:Bend7	APN	2	4,768,116 (GRCm39)	critical splice donor site	probably null
R0743:Bend7	UTSW	2	4,749,055 (GRCm39)	missense	probably damaging	1.00
R0884:Bend7	UTSW	2	4,749,055 (GRCm39)	missense	probably damaging	1.00
R1459:Bend7	UTSW	2	4,749,239 (GRCm39)	missense	probably damaging	0.96
R1544:Bend7	UTSW	2	4,768,122 (GRCm39)	splice site	probably benign
R2344:Bend7	UTSW	2	4,793,345 (GRCm39)	missense	probably damaging	1.00
R4372:Bend7	UTSW	2	4,754,421 (GRCm39)	missense	probably damaging	1.00
R4838:Bend7	UTSW	2	4,749,133 (GRCm39)	missense	probably damaging	1.00
R5226:Bend7	UTSW	2	4,757,789 (GRCm39)	nonsense	probably null
R5291:Bend7	UTSW	2	4,768,052 (GRCm39)	missense	probably damaging	1.00
R5292:Bend7	UTSW	2	4,768,052 (GRCm39)	missense	probably damaging	1.00
R5347:Bend7	UTSW	2	4,768,052 (GRCm39)	missense	probably damaging	1.00
R5729:Bend7	UTSW	2	4,768,085 (GRCm39)	missense	probably damaging	1.00
R5816:Bend7	UTSW	2	4,757,710 (GRCm39)	missense	probably benign	0.18
R5816:Bend7	UTSW	2	4,749,143 (GRCm39)	missense	probably damaging	1.00
R5944:Bend7	UTSW	2	4,749,167 (GRCm39)	missense	probably damaging	1.00
R6127:Bend7	UTSW	2	4,768,088 (GRCm39)	missense	probably damaging	1.00
R6185:Bend7	UTSW	2	4,793,333 (GRCm39)	missense	probably damaging	1.00
R7288:Bend7	UTSW	2	4,757,641 (GRCm39)	missense	probably damaging	0.98
R7524:Bend7	UTSW	2	4,804,791 (GRCm39)	missense	probably benign	0.00
R7797:Bend7	UTSW	2	4,754,455 (GRCm39)	missense	probably damaging	0.96
R8022:Bend7	UTSW	2	4,757,590 (GRCm39)	missense	probably benign	0.00
R8141:Bend7	UTSW	2	4,757,636 (GRCm39)	missense	probably benign	0.00
R8156:Bend7	UTSW	2	4,757,665 (GRCm39)	missense	probably benign	0.05
R8710:Bend7	UTSW	2	4,767,925 (GRCm39)	missense	probably benign	0.35
R8995:Bend7	UTSW	2	4,749,103 (GRCm39)	missense	probably damaging	1.00
R9332:Bend7	UTSW	2	4,757,531 (GRCm39)	missense	probably benign	0.00
R9460:Bend7	UTSW	2	4,749,302 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGCCAGAAGTGCAACTTGC -3'
(R):5'- ATAGTATCCTAGAGTATCTGGGGTG -3'

Sequencing Primer
(F):5'- AAGTGCAACTTGCTGAAGGCTTC -3'
(R):5'- CTTACAGAGTCACATCCATGGGG -3'

Posted On

2016-11-09