Mutagenetix > Incidental Mutation

Incidental Mutation 'R2216:Bend5'

241140

Institutional Source

Beutler Lab

Gene Symbol

Bend5

Ensembl Gene

ENSMUSG00000028545

Gene Name

BEN domain containing 5

Synonyms

MMRRC Submission

040218-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111415006-111460298 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111448590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 277 (N277S)

Ref Sequence

ENSEMBL: ENSMUSP00000030274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030274] [ENSMUST00000080744] [ENSMUST00000097920] [ENSMUST00000106591] [ENSMUST00000106592]

AlphaFold

Q8C6D4

Predicted Effect

probably null
Transcript: ENSMUST00000030274
AA Change: N277S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030274
Gene: ENSMUSG00000028545
AA Change: N277S

Domain	Start	End	E-Value	Type
coiled coil region	180	242	N/A	INTRINSIC
BEN	322	397	4.7e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080744

SMART Domains

Protein: ENSMUSP00000079568
Gene: ENSMUSG00000061298

Domain	Start	End	E-Value	Type
Zn_pept	169	436	4.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097920

SMART Domains

Protein: ENSMUSP00000095533
Gene: ENSMUSG00000061298

Domain	Start	End	E-Value	Type
Zn_pept	169	465	3.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106591

SMART Domains

Protein: ENSMUSP00000102201
Gene: ENSMUSG00000061298

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M14	174	321	3.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106592

SMART Domains

Protein: ENSMUSP00000102202
Gene: ENSMUSG00000061298

Domain	Start	End	E-Value	Type
Zn_pept	169	436	4.95e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129760

Predicted Effect

probably benign
Transcript: ENSMUST00000139876

SMART Domains

Protein: ENSMUSP00000119368
Gene: ENSMUSG00000028545

Domain	Start	End	E-Value	Type
coiled coil region	50	112	N/A	INTRINSIC
Blast:BEN	115	150	8e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148038

SMART Domains

Protein: ENSMUSP00000118551
Gene: ENSMUSG00000061298

Domain	Start	End	E-Value	Type
Zn_pept	15	267	9.65e-4	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	G	T	11: 72,031,446	P146T	probably damaging	Het
Arnt2	T	A	7: 84,275,351	T423S	probably damaging	Het
Cd22	G	T	7: 30,867,046	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,678	R115C	probably damaging	Het
Cep85	T	C	4: 134,131,430	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,093,495	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,314,981	V371A	probably benign	Het
Csmd1	T	A	8: 17,027,339		probably null	Het
Cyp1a1	T	A	9: 57,702,069		probably null	Het
Dennd1c	C	T	17: 57,074,492		probably null	Het
Dmxl1	G	A	18: 49,893,923	V2033I	probably benign	Het
Dtna	A	G	18: 23,569,565	H51R	probably damaging	Het
Dysf	G	A	6: 84,207,245		probably null	Het
Gcn1l1	T	A	5: 115,593,661	V945E	probably benign	Het
Gm12800	T	A	4: 101,910,060	W169R	probably damaging	Het
Gpbar1	C	G	1: 74,278,894	L99V	probably damaging	Het
Hdac9	A	T	12: 34,429,517	D212E	probably damaging	Het
Itga1	A	T	13: 114,997,029	D448E	probably benign	Het
Itga2b	T	A	11: 102,467,866	N75I	probably benign	Het
Klra7	T	C	6: 130,228,586	E117G	probably benign	Het
Kmt2b	G	A	7: 30,574,065	R2349C	probably benign	Het
Masp1	T	C	16: 23,492,055	N209S	probably benign	Het
Mybpc2	C	T	7: 44,512,500		probably null	Het
Myh15	C	G	16: 49,165,838	S1557*	probably null	Het
Myo3a	A	C	2: 22,577,771	T346P	probably benign	Het
Nim1k	A	G	13: 119,714,215	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,762,918	R507*	probably null	Het
Olfr513	C	T	7: 108,755,612	T252M	probably damaging	Het
Olfr702	T	A	7: 106,823,998	H176L	probably damaging	Het
Parp14	T	C	16: 35,857,205	I798V	probably benign	Het
Pcnx2	C	T	8: 125,888,077	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,573,895	H3522L	probably damaging	Het
Pram1	C	T	17: 33,641,284	A275V	probably benign	Het
Prkag1	A	T	15: 98,815,946	M1K	probably null	Het
Prss52	T	C	14: 64,113,593	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,481,125	V284D	probably damaging	Het
Reln	T	C	5: 22,048,005	D648G	probably benign	Het
Rnf112	A	G	11: 61,452,279	L190P	probably damaging	Het
Scn5a	G	T	9: 119,485,612	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,513,085	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,530,745	H274R	probably benign	Het
Slc5a6	T	G	5: 31,039,335	E391D	possibly damaging	Het
Speer2	T	C	16: 69,858,842	Q32R	possibly damaging	Het
Tars	A	G	15: 11,389,708	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,268	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,512,564	Y222C	probably benign	Het
Trim40	T	C	17: 36,888,983	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,471,306	I150V	probably benign	Het
Ube2u	T	C	4: 100,532,168	V109A	probably benign	Het
Usp54	A	T	14: 20,561,840	D969E	probably benign	Het
Vil1	G	T	1: 74,425,679	R495L	probably benign	Het
Wfs1	T	A	5: 36,967,220	K700*	probably null	Het
Zcchc8	A	G	5: 123,707,403	L298P	probably damaging	Het
Zfp946	A	T	17: 22,454,716	Q150H	possibly damaging	Het

Other mutations in Bend5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Bend5	APN	4	111448641	missense	probably damaging	0.99
IGL02083:Bend5	APN	4	111459767	missense	probably benign	0.44
IGL03202:Bend5	APN	4	111433244	missense	possibly damaging	0.79
IGL03379:Bend5	APN	4	111454271	missense	probably benign	0.06
PIT4378001:Bend5	UTSW	4	111431107	missense	probably benign
R0639:Bend5	UTSW	4	111433298	missense	probably benign	0.21
R1306:Bend5	UTSW	4	111459773	nonsense	probably null
R1535:Bend5	UTSW	4	111459763	missense	probably benign	0.06
R1768:Bend5	UTSW	4	111454241	nonsense	probably null
R2116:Bend5	UTSW	4	111415239	missense	probably benign	0.09
R2256:Bend5	UTSW	4	111431010	intron	probably benign
R3927:Bend5	UTSW	4	111448605	missense	possibly damaging	0.91
R5408:Bend5	UTSW	4	111454083	critical splice acceptor site	probably null
R5841:Bend5	UTSW	4	111433470	missense	probably damaging	1.00
R7860:Bend5	UTSW	4	111415209	missense	probably damaging	0.98
R8063:Bend5	UTSW	4	111459834	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCACTATATGCTGATAGATGC -3'
(R):5'- GAAGTCCCAGGAAACCTATGC -3'

Sequencing Primer
(F):5'- CCGCCATTGACTTGGAAA -3'
(R):5'- GTCCCAGGAAACCTATGCTACTATG -3'

Posted On

2014-10-15