Mutagenetix > Incidental Mutation

Incidental Mutation 'R7797:Bend7'

600261

Institutional Source

Beutler Lab

Gene Symbol

Bend7

Ensembl Gene

ENSMUSG00000048186

Gene Name

BEN domain containing 7

Synonyms

E130319B15Rik, 1110017O21Rik

MMRRC Submission

045853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4722642-4806953 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4754455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 186 (M186R)

Ref Sequence

ENSEMBL: ENSMUSP00000052458 (fasta)

Gene Model

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

AlphaFold

Q8BSV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000056914
AA Change: M186R

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052458
Gene: ENSMUSG00000048186
AA Change: M186R

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: M186R

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110674
Gene: ENSMUSG00000048186
AA Change: M186R

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: ENSMUST00000184139
AA Change: M186R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139220
Gene: ENSMUSG00000048186
AA Change: M186R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,862,509 (GRCm39)		probably null	Het
Adam3	T	G	8: 25,184,660 (GRCm39)	N535T	probably damaging	Het
Adam34l	T	A	8: 44,079,411 (GRCm39)	E271V	probably benign	Het
Adamts4	A	G	1: 171,085,387 (GRCm39)	K679E	probably damaging	Het
Arnt	G	A	3: 95,387,572 (GRCm39)		probably null	Het
Asah2	A	G	19: 31,999,761 (GRCm39)	F321L	probably damaging	Het
Asb15	T	C	6: 24,562,505 (GRCm39)	S156P	probably damaging	Het
Baiap2l1	A	C	5: 144,255,760 (GRCm39)	S65A	probably damaging	Het
Blnk	T	C	19: 40,948,232 (GRCm39)	K146E	possibly damaging	Het
Cd19	A	G	7: 126,012,680 (GRCm39)	W238R	probably damaging	Het
Cd44	T	A	2: 102,679,079 (GRCm39)	N241I	probably benign	Het
Cdh23	T	C	10: 60,220,973 (GRCm39)	E1257G	probably benign	Het
Cfap300	G	T	9: 8,027,130 (GRCm39)	P136Q	possibly damaging	Het
Cntnap5c	T	C	17: 58,666,270 (GRCm39)	V1100A	probably benign	Het
Cul7	T	C	17: 46,969,568 (GRCm39)	V945A	possibly damaging	Het
Dock2	C	T	11: 34,232,652 (GRCm39)	C1116Y	probably damaging	Het
Ehbp1	T	C	11: 22,046,109 (GRCm39)	M547V	possibly damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Grhl3	C	G	4: 135,286,416 (GRCm39)	K88N	possibly damaging	Het
Hbb-y	T	A	7: 103,501,088 (GRCm39)	Y146F	probably damaging	Het
Hivep2	T	C	10: 14,005,847 (GRCm39)	V815A	probably benign	Het
Hoxa7	T	A	6: 52,192,870 (GRCm39)	I173F	probably damaging	Het
Igkv1-110	T	G	6: 68,247,977 (GRCm39)	S29A	probably benign	Het
Jade2	A	G	11: 51,708,126 (GRCm39)	S696P	probably benign	Het
Kif1b	T	A	4: 149,321,844 (GRCm39)	Q1025L	probably benign	Het
Kif2c	A	T	4: 117,028,940 (GRCm39)	C241S	probably benign	Het
Kmt2d	G	T	15: 98,762,287 (GRCm39)	H400N	probably benign	Het
Krt35	T	A	11: 99,985,713 (GRCm39)	N174Y	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Magi3	A	G	3: 103,958,618 (GRCm39)	V489A	probably damaging	Het
Mapk7	T	C	11: 61,380,241 (GRCm39)	E739G	possibly damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mdga1	C	T	17: 30,061,814 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,022 (GRCm39)	R607H	probably damaging	Het
Met	T	A	6: 17,533,952 (GRCm39)	N634K	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mmp11	G	T	10: 75,759,314 (GRCm39)	T107K		Het
Mroh2b	A	C	15: 4,978,587 (GRCm39)	N1378H	probably benign	Het
Naa15	G	A	3: 51,356,031 (GRCm39)	C322Y	probably damaging	Het
Naip1	T	A	13: 100,580,986 (GRCm39)	Y87F	probably damaging	Het
Ngrn	A	G	7: 79,914,185 (GRCm39)	D112G	probably benign	Het
Osbpl1a	C	A	18: 13,015,321 (GRCm39)	C369F	probably damaging	Het
Pcnx2	G	C	8: 126,512,087 (GRCm39)	D1406E	possibly damaging	Het
Phf8-ps	T	C	17: 33,286,664 (GRCm39)	D46G	probably damaging	Het
Pold1	G	A	7: 44,191,213 (GRCm39)	P206L	probably benign	Het
Psen1	A	G	12: 83,746,396 (GRCm39)	S20G	probably benign	Het
Ptpn23	C	T	9: 110,222,875 (GRCm39)	D61N	possibly damaging	Het
Rbfox3	A	T	11: 118,387,310 (GRCm39)	L268Q	possibly damaging	Het
Rbm22	A	G	18: 60,694,344 (GRCm39)	T26A	probably damaging	Het
Rpgrip1	G	A	14: 52,371,277 (GRCm39)	R332Q	possibly damaging	Het
Rrm2b	A	T	15: 37,927,505 (GRCm39)	L347*	probably null	Het
Rsf1	A	T	7: 97,310,692 (GRCm39)	D474V		Het
Ryr2	C	T	13: 11,816,066 (GRCm39)	R640Q	probably damaging	Het
Sec16b	A	G	1: 157,389,245 (GRCm39)	E691G	unknown	Het
Septin1	A	T	7: 126,813,937 (GRCm39)	V365E	unknown	Het
Tlk2	A	G	11: 105,101,444 (GRCm39)	H114R	probably benign	Het
Tmem200a	A	G	10: 25,869,864 (GRCm39)	I135T	possibly damaging	Het
Tpst2	T	A	5: 112,455,782 (GRCm39)	V107E	probably damaging	Het
Trim30a	A	T	7: 104,060,407 (GRCm39)	D456E	possibly damaging	Het
Ttll3	T	C	6: 113,371,738 (GRCm39)	V45A	possibly damaging	Het
Ulk2	A	G	11: 61,672,928 (GRCm39)	Y889H	probably benign	Het
Umodl1	A	G	17: 31,178,125 (GRCm39)	S34G	probably benign	Het
Vmn1r67	A	G	7: 10,180,903 (GRCm39)	I56V	probably benign	Het
Vmn2r120	C	T	17: 57,815,874 (GRCm39)	G827E	probably damaging	Het
Zc3h6	T	C	2: 128,857,555 (GRCm39)		probably null	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
R5695: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
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'- GGTACGTTTTCTTCTGACACAG -3'
(R):5'- TCACAGGTTGCTGAAAGAGTAG -3'

Sequencing Primer
(F):5'- ACGTTTTCTTCTGACACAGTTTGATG -3'
(R):5'- TAGAGAAAATGGATACTTGAAAAGGC -3'

Posted On

2019-11-26