Mutagenetix > Incidental Mutation

Incidental Mutation 'R6127:Bend7'

487427

Institutional Source

Beutler Lab

Gene Symbol

Bend7

Ensembl Gene

ENSMUSG00000048186

Gene Name

BEN domain containing 7

Synonyms

E130319B15Rik, 1110017O21Rik

MMRRC Submission

044274-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4722642-4806953 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4768088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 348 (D348G)

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: D348G

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

SMART Domains

Protein: ENSMUSP00000052458
Gene: ENSMUSG00000048186
AA Change: D348G

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: D348G

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

SMART Domains

Protein: ENSMUSP00000110674
Gene: ENSMUSG00000048186
AA Change: D348G

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: D348G

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

SMART Domains

Protein: ENSMUSP00000139220
Gene: ENSMUSG00000048186
AA Change: D348G

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

0.4407

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003F12Rik	A	G	2: 154,391,509 (GRCm39)	E92G	probably damaging	Het
4931429L15Rik	T	A	9: 46,220,220 (GRCm39)	D104V	probably damaging	Het
Actl9	T	C	17: 33,652,354 (GRCm39)	V138A	probably benign	Het
Agl	T	A	3: 116,551,978 (GRCm39)	I1204F	probably damaging	Het
Akna	G	T	4: 63,286,356 (GRCm39)	T1381N	possibly damaging	Het
Atm	A	C	9: 53,435,809 (GRCm39)	L167W	probably damaging	Het
Atp2b2	C	T	6: 113,790,838 (GRCm39)	E189K	probably damaging	Het
Cactin	G	A	10: 81,160,143 (GRCm39)	R412H	possibly damaging	Het
Carmil1	T	C	13: 24,220,335 (GRCm39)	T726A	probably benign	Het
Csmd3	T	A	15: 47,513,624 (GRCm39)	I2829F	probably damaging	Het
Ddx50	A	T	10: 62,457,342 (GRCm39)		probably null	Het
Epha5	T	G	5: 84,218,953 (GRCm39)	K937N	probably damaging	Het
Fblim1	G	A	4: 141,312,033 (GRCm39)	R231C	probably damaging	Het
Fuca1	T	A	4: 135,662,122 (GRCm39)	I350N	probably damaging	Het
Hagh	G	T	17: 25,079,978 (GRCm39)	M152I	probably damaging	Het
Hexd	T	C	11: 121,107,825 (GRCm39)	V185A	possibly damaging	Het
Ireb2	A	G	9: 54,789,652 (GRCm39)	T109A	probably benign	Het
Kcnh2	A	G	5: 24,530,001 (GRCm39)	Y702H	probably damaging	Het
Leng1	G	A	7: 3,665,866 (GRCm39)	P157L	probably damaging	Het
Maea	C	T	5: 33,492,862 (GRCm39)		probably benign	Het
Mertk	G	T	2: 128,580,211 (GRCm39)	V222F	probably damaging	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Muc13	G	A	16: 33,619,317 (GRCm39)	A22T	unknown	Het
Muc16	T	A	9: 18,569,174 (GRCm39)	H1115L	unknown	Het
Or2y1d	C	A	11: 49,321,633 (GRCm39)	T110K	probably damaging	Het
Or5ae2	T	A	7: 84,506,410 (GRCm39)	L278M	probably damaging	Het
Or5l13	T	A	2: 87,779,705 (GRCm39)	S291C	probably damaging	Het
Or6c69	A	G	10: 129,747,284 (GRCm39)	Y288H	probably damaging	Het
Pak5	G	A	2: 135,929,326 (GRCm39)	P619L	probably damaging	Het
Pcdh17	A	G	14: 84,770,500 (GRCm39)	K993E	probably damaging	Het
Pcdhga3	A	T	18: 37,807,757 (GRCm39)	Q70L	probably damaging	Het
Pcdhgb5	C	A	18: 37,865,932 (GRCm39)	R576S	probably damaging	Het
Pold1	T	C	7: 44,191,545 (GRCm39)	Y147C	probably damaging	Het
Prag1	T	C	8: 36,614,555 (GRCm39)	L1369P	unknown	Het
Psg29	T	A	7: 16,945,671 (GRCm39)	F414I	probably benign	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Rp1	C	A	1: 4,419,534 (GRCm39)	S526I	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Setd7	G	A	3: 51,437,502 (GRCm39)	T251I	probably damaging	Het
Slc25a41	T	A	17: 57,341,914 (GRCm39)	Y145F	probably damaging	Het
Stag1	T	C	9: 100,833,750 (GRCm39)	V1121A	probably benign	Het
Svip	T	C	7: 51,653,201 (GRCm39)	T38A	probably benign	Het
Tacc2	A	T	7: 130,227,845 (GRCm39)	H1510L	possibly damaging	Het
Trav19	A	G	14: 54,082,999 (GRCm39)	T25A	probably benign	Het
Trip4	A	T	9: 65,773,752 (GRCm39)		probably null	Het
Tulp1	T	A	17: 28,575,124 (GRCm39)	H447L	probably benign	Het
Vmn1r200	A	T	13: 22,579,373 (GRCm39)	T59S	probably benign	Het
Vmn2r51	A	T	7: 9,839,558 (GRCm39)	L10H	probably damaging	Het
Wee2	T	C	6: 40,426,701 (GRCm39)	Y157H	probably damaging	Het
Xrn1	T	C	9: 95,851,542 (GRCm39)	S187P	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	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
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'- GCCAGAAGTGCAACTTGCTG -3'
(R):5'- AATAGTATCCTAGAGTATCTGGGGTGG -3'

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

Posted On

2017-10-10