Mutagenetix > Incidental Mutation

Incidental Mutation 'R6196:Bend6'

502899

Institutional Source

Beutler Lab

Gene Symbol

Bend6

Ensembl Gene

ENSMUSG00000042182

Gene Name

BEN domain containing 6

Synonyms

B230209C24Rik

MMRRC Submission

044336-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R6196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33891133-33946897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33917509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 44 (Y44H)

Ref Sequence

ENSEMBL: ENSMUSP00000052919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062289] [ENSMUST00000115161] [ENSMUST00000129464]

AlphaFold

Q6PFX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000062289
AA Change: Y44H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052919
Gene: ENSMUSG00000042182
AA Change: Y44H

Domain	Start	End	E-Value	Type
coiled coil region	19	40	N/A	INTRINSIC
coiled coil region	61	100	N/A	INTRINSIC
low complexity region	143	160	N/A	INTRINSIC
BEN	190	271	4.6e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115161

SMART Domains

Protein: ENSMUSP00000110814
Gene: ENSMUSG00000042182

Domain	Start	End	E-Value	Type
coiled coil region	1	38	N/A	INTRINSIC
low complexity region	81	98	N/A	INTRINSIC
BEN	128	209	5.67e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126724

Predicted Effect

probably benign
Transcript: ENSMUST00000129464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195350

Meta Mutation Damage Score

0.0643

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,436,554 (GRCm39)	H241L	possibly damaging	Het
Acap1	T	C	11: 69,777,893 (GRCm39)	D115G	probably damaging	Het
Acvr2b	T	C	9: 119,262,469 (GRCm39)	V510A	possibly damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Agr2	A	T	12: 36,045,591 (GRCm39)	K26*	probably null	Het
Aox4	T	A	1: 58,256,685 (GRCm39)	I69N	probably damaging	Het
Asb4	G	A	6: 5,390,699 (GRCm39)	G31R	probably benign	Het
Atp6v1c2	C	A	12: 17,351,187 (GRCm39)	E105*	probably null	Het
Bltp3b	T	G	10: 89,641,195 (GRCm39)	S789A	probably benign	Het
Btn2a2	C	T	13: 23,672,015 (GRCm39)	V25M	possibly damaging	Het
Cab39l	T	A	14: 59,737,039 (GRCm39)	L53Q	probably damaging	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Cdc14b	C	T	13: 64,353,338 (GRCm39)		probably benign	Het
Cenpu	A	G	8: 47,015,615 (GRCm39)	R177G	probably benign	Het
Chit1	C	A	1: 134,074,381 (GRCm39)	Y229*	probably null	Het
Crybg2	C	A	4: 133,808,450 (GRCm39)	S1350R	probably damaging	Het
Ctdspl2	A	G	2: 121,809,373 (GRCm39)		probably null	Het
Ctsr	A	T	13: 61,308,345 (GRCm39)	H266Q	probably benign	Het
Dynlt5	A	G	4: 102,849,766 (GRCm39)	E63G	possibly damaging	Het
Efcab3	T	G	11: 104,746,386 (GRCm39)	I2279S	probably benign	Het
Extl3	T	A	14: 65,313,584 (GRCm39)	M533L	probably benign	Het
Fam162b	C	A	10: 51,463,506 (GRCm39)		probably null	Het
Fbxo28	T	C	1: 182,157,454 (GRCm39)	K121R	probably damaging	Het
Fsip2	A	C	2: 82,820,227 (GRCm39)	E5320A	possibly damaging	Het
Galc	A	T	12: 98,225,421 (GRCm39)	D56E	probably damaging	Het
Gm5468	A	G	15: 25,414,481 (GRCm39)		probably benign	Het
Hk1	T	A	10: 62,135,038 (GRCm39)	H24L	probably damaging	Het
Igkv5-43	A	G	6: 69,752,965 (GRCm39)	V39A	possibly damaging	Het
Lemd2	G	A	17: 27,411,976 (GRCm39)	Q439*	probably null	Het
Lgi1	A	G	19: 38,294,257 (GRCm39)	N295S	probably benign	Het
Macc1	T	G	12: 119,409,785 (GRCm39)	S184R	probably damaging	Het
Msmo1	A	G	8: 65,180,918 (GRCm39)		probably benign	Het
Muc5b	C	A	7: 141,405,333 (GRCm39)	R914S	unknown	Het
Or10d1	G	A	9: 39,483,776 (GRCm39)	P260S	possibly damaging	Het
Or1e16	G	A	11: 73,286,299 (GRCm39)	A183V	probably benign	Het
Or1e17	G	A	11: 73,831,635 (GRCm39)	A188T	possibly damaging	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Or5b110-ps1	A	G	19: 13,260,290 (GRCm39)	I44T	probably benign	Het
Plekha5	T	C	6: 140,525,179 (GRCm39)	S14P	probably benign	Het
Pus10	A	G	11: 23,622,638 (GRCm39)	K86R	probably benign	Het
Rab37	T	C	11: 115,051,132 (GRCm39)	V147A	probably benign	Het
Sin3a	T	A	9: 57,011,213 (GRCm39)	I490N	probably damaging	Het
Slc27a4	A	G	2: 29,695,762 (GRCm39)	D99G	probably benign	Het
Slc43a2	C	T	11: 75,459,206 (GRCm39)	R413*	probably null	Het
Syna	G	T	5: 134,588,466 (GRCm39)	T161N	probably benign	Het
T	A	G	17: 8,655,996 (GRCm39)	D86G	possibly damaging	Het
Tanc1	G	A	2: 59,674,366 (GRCm39)	E1817K	possibly damaging	Het
Tap2	C	A	17: 34,433,384 (GRCm39)	Q516K	possibly damaging	Het
Tcaf1	A	T	6: 42,653,741 (GRCm39)	D717E	probably damaging	Het
Tcf20	G	T	15: 82,736,187 (GRCm39)	Q1755K	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trpm7	G	A	2: 126,667,559 (GRCm39)	P811S	possibly damaging	Het
Vmn2r59	A	G	7: 41,661,679 (GRCm39)	V712A	probably benign	Het
Vwc2l	T	A	1: 70,768,180 (GRCm39)	D34E	probably damaging	Het
Wdr35	A	G	12: 9,077,632 (GRCm39)	K1091E	probably benign	Het

Other mutations in Bend6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Bend6	APN	1	33,922,619 (GRCm39)	missense	possibly damaging	0.95
IGL02009:Bend6	APN	1	33,901,827 (GRCm39)	missense	probably benign	0.00
R0408:Bend6	UTSW	1	33,901,834 (GRCm39)	missense	probably damaging	1.00
R1449:Bend6	UTSW	1	33,917,424 (GRCm39)	missense	probably benign	0.00
R1469:Bend6	UTSW	1	33,903,824 (GRCm39)	missense	probably benign	0.24
R1469:Bend6	UTSW	1	33,903,824 (GRCm39)	missense	probably benign	0.24
R4836:Bend6	UTSW	1	33,922,654 (GRCm39)	utr 5 prime	probably benign
R5818:Bend6	UTSW	1	33,922,654 (GRCm39)	utr 5 prime	probably benign
R5871:Bend6	UTSW	1	33,902,946 (GRCm39)	missense	probably damaging	0.96
R5995:Bend6	UTSW	1	33,917,520 (GRCm39)	critical splice acceptor site	probably null
Z1176:Bend6	UTSW	1	33,903,604 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTTTACCTTGCAGCATGAC -3'
(R):5'- CCTGTCTTCTATTTGAAAAGGGAAC -3'

Sequencing Primer
(F):5'- GTTTTACCTTGCAGCATGACCAAAG -3'
(R):5'- ATGAACCTTTTCGTGTGTCCTG -3'

Posted On

2018-02-27