Mutagenetix > Incidental Mutation

Incidental Mutation 'R8896:Bean1'

678034

Institutional Source

Beutler Lab

Gene Symbol

Bean1

Ensembl Gene

ENSMUSG00000031872

Gene Name

brain expressed, associated with Nedd4, 1

Synonyms

MMRRC Submission

068698-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8896 (G1)

Quality Score

214.458

Status

Validated

Chromosome

Chromosomal Location

104897110-104945730 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CT to C at 104908664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093245] [ENSMUST00000164076] [ENSMUST00000167633] [ENSMUST00000171018] [ENSMUST00000212979] [ENSMUST00000213077]

AlphaFold

Q9EQG5

Predicted Effect

probably benign
Transcript: ENSMUST00000093245

SMART Domains

Protein: ENSMUSP00000090931
Gene: ENSMUSG00000031872

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	70	90	N/A	INTRINSIC
low complexity region	217	232	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153288

Predicted Effect

probably benign
Transcript: ENSMUST00000164076

SMART Domains

Protein: ENSMUSP00000132056
Gene: ENSMUSG00000031872

Domain	Start	End	E-Value	Type
low complexity region	156	171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167633

SMART Domains

Protein: ENSMUSP00000131530
Gene: ENSMUSG00000031872

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	70	90	N/A	INTRINSIC
low complexity region	217	232	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000171018

SMART Domains

Protein: ENSMUSP00000129403
Gene: ENSMUSG00000031872

Domain	Start	End	E-Value	Type
transmembrane domain	72	94	N/A	INTRINSIC
low complexity region	104	124	N/A	INTRINSIC
low complexity region	288	303	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000212979

Predicted Effect

probably benign
Transcript: ENSMUST00000213077

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null targeted allele are viable and fertile and exhibit no apparent abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	G	1: 58,291,233 (GRCm39)	S784A	probably benign	Het
Ap3d1	T	A	10: 80,552,425 (GRCm39)	H581L	probably benign	Het
Atp11a	T	C	8: 12,899,781 (GRCm39)	Y915H	probably damaging	Het
Atp4b	T	C	8: 13,437,514 (GRCm39)	D213G	probably benign	Het
Bcl11a	A	G	11: 24,113,640 (GRCm39)	S328G	probably benign	Het
Cadps2	T	A	6: 23,410,876 (GRCm39)	Y685F	probably damaging	Het
Ccdc88b	C	T	19: 6,831,203 (GRCm39)	A580T	probably benign	Het
Cdc42bpa	GACAACA	GACA	1: 179,958,373 (GRCm39)		probably benign	Het
Cep152	A	T	2: 125,408,155 (GRCm39)	V1396D	possibly damaging	Het
Ces1c	T	C	8: 93,833,254 (GRCm39)	I404V	probably benign	Het
Cr2	A	T	1: 194,851,581 (GRCm39)	M137K	possibly damaging	Het
Cyp2d40	T	C	15: 82,644,454 (GRCm39)	Y257C	unknown	Het
Dennd1c	T	A	17: 57,381,512 (GRCm39)	D116V	probably damaging	Het
Dph2	G	A	4: 117,747,575 (GRCm39)	R270*	probably null	Het
Dpp8	A	C	9: 64,985,318 (GRCm39)	H792P	possibly damaging	Het
Dusp29	T	C	14: 21,736,763 (GRCm39)	D113G	probably benign	Het
Efs	T	C	14: 55,157,756 (GRCm39)	E185G	possibly damaging	Het
Eml3	A	G	19: 8,914,056 (GRCm39)	E480G	probably damaging	Het
Fam193a	A	G	5: 34,583,828 (GRCm39)	T336A	probably benign	Het
Fermt1	C	T	2: 132,783,852 (GRCm39)		probably benign	Het
Galnt4	T	A	10: 98,945,955 (GRCm39)	V560D	probably damaging	Het
Gbp2b	C	A	3: 142,309,327 (GRCm39)	T146K	probably damaging	Het
Gbp5	C	T	3: 142,211,308 (GRCm39)	T346I	probably damaging	Het
Glrx	G	T	13: 75,995,317 (GRCm39)	C79F	probably damaging	Het
Glt8d2	T	A	10: 82,490,616 (GRCm39)	T225S	probably damaging	Het
Grm3	A	G	5: 9,562,483 (GRCm39)	F456L	possibly damaging	Het
Gse1	T	G	8: 121,303,185 (GRCm39)	S1109A	unknown	Het
Gstp3	A	T	19: 4,108,573 (GRCm39)	L63Q	probably damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Herc4	T	A	10: 63,147,286 (GRCm39)	I801N	possibly damaging	Het
Ido1	G	T	8: 25,077,880 (GRCm39)	D153E	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnj9	T	A	1: 172,153,360 (GRCm39)	S255C	probably damaging	Het
Kpna3	T	C	14: 61,629,294 (GRCm39)	N39D	probably benign	Het
Krt39	A	T	11: 99,409,095 (GRCm39)	S269T	probably damaging	Het
Lfng	G	A	5: 140,598,978 (GRCm39)	V296I	probably benign	Het
Lrit3	T	A	3: 129,585,132 (GRCm39)	I209F	probably damaging	Het
Map4k5	T	A	12: 69,870,275 (GRCm39)	D523V	possibly damaging	Het
Mdn1	C	T	4: 32,678,328 (GRCm39)	P652L	probably benign	Het
Med30	G	A	15: 52,584,516 (GRCm39)	V145I	possibly damaging	Het
Megf6	T	A	4: 154,326,860 (GRCm39)	D163E	probably damaging	Het
Meltf	T	A	16: 31,709,522 (GRCm39)		probably benign	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mppe1	T	C	18: 67,370,472 (GRCm39)	D75G	probably damaging	Het
Muc4	C	T	16: 32,754,673 (GRCm38)	P1516S	probably benign	Het
Myo3b	C	A	2: 70,069,160 (GRCm39)	F494L	probably damaging	Het
Nedd4l	A	G	18: 65,298,688 (GRCm39)	T226A	probably benign	Het
Nod1	A	G	6: 54,921,277 (GRCm39)	V347A	probably benign	Het
Nup210	A	T	6: 91,019,235 (GRCm39)		probably null	Het
Nup210l	A	G	3: 90,025,932 (GRCm39)	R185G	probably damaging	Het
Oma1	T	C	4: 103,210,829 (GRCm39)	L445S	probably damaging	Het
Or13p10	A	T	4: 118,523,502 (GRCm39)	M263L	probably benign	Het
Or5ac20	A	T	16: 59,104,452 (GRCm39)	M136K	probably damaging	Het
Or8g36	A	G	9: 39,422,770 (GRCm39)	L82P	probably damaging	Het
Oxsm	A	T	14: 16,242,677 (GRCm38)	F31I	probably benign	Het
Pdcd5	A	T	7: 35,346,795 (GRCm39)	M1K	probably null	Het
Pkd1l2	T	C	8: 117,740,615 (GRCm39)	T2161A	possibly damaging	Het
Pla2g3	A	T	11: 3,442,151 (GRCm39)	S404C	probably null	Het
Plec	A	G	15: 76,078,560 (GRCm39)	V60A	unknown	Het
Prpsap2	A	G	11: 61,643,736 (GRCm39)	S66P	possibly damaging	Het
Rarb	A	G	14: 16,436,804 (GRCm38)	L239P	probably damaging	Het
Ryr3	A	T	2: 112,583,395 (GRCm39)	Y2845*	probably null	Het
Spta1	T	C	1: 174,045,548 (GRCm39)	C1569R	probably damaging	Het
Stard13	G	A	5: 150,986,115 (GRCm39)	S465L	probably damaging	Het
Tmub1	A	T	5: 24,651,680 (GRCm39)	S80T	probably benign	Het
Trpv5	A	G	6: 41,647,847 (GRCm39)	F322S	probably damaging	Het
Vmn2r5	G	A	3: 64,411,203 (GRCm39)	A455V	probably benign	Het
Washc4	T	A	10: 83,405,882 (GRCm39)	N459K	probably damaging	Het
Wdr11	C	T	7: 129,207,437 (GRCm39)	R300*	probably null	Het
Zer1	A	G	2: 29,993,430 (GRCm39)	F559L	probably damaging	Het
Zfat	A	T	15: 68,052,519 (GRCm39)	V425D	probably damaging	Het
Zfp738	G	A	13: 67,817,910 (GRCm39)	L694F		Het
Zfp839	C	T	12: 110,835,277 (GRCm39)	A844V	probably damaging	Het

Other mutations in Bean1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02016:Bean1	APN	8	104,937,550 (GRCm39)	missense	possibly damaging	0.90
R0135:Bean1	UTSW	8	104,943,807 (GRCm39)	missense	probably damaging	1.00
R0490:Bean1	UTSW	8	104,941,660 (GRCm39)	missense	possibly damaging	0.76
R1319:Bean1	UTSW	8	104,943,856 (GRCm39)	missense	probably benign
R1920:Bean1	UTSW	8	104,937,742 (GRCm39)	missense	possibly damaging	0.92
R2513:Bean1	UTSW	8	104,908,643 (GRCm39)	missense	probably benign	0.04
R3980:Bean1	UTSW	8	104,937,730 (GRCm39)	missense	possibly damaging	0.92
R4209:Bean1	UTSW	8	104,940,566 (GRCm39)	start codon destroyed	probably null	0.04
R4369:Bean1	UTSW	8	104,943,742 (GRCm39)	missense	probably damaging	1.00
R4516:Bean1	UTSW	8	104,941,786 (GRCm39)	missense	probably damaging	1.00
R4542:Bean1	UTSW	8	104,937,591 (GRCm39)	missense	probably damaging	1.00
R4663:Bean1	UTSW	8	104,937,799 (GRCm39)	missense	probably damaging	1.00
R4962:Bean1	UTSW	8	104,943,606 (GRCm39)	missense	probably damaging	1.00
R5221:Bean1	UTSW	8	104,941,784 (GRCm39)	missense	probably damaging	1.00
R6288:Bean1	UTSW	8	104,937,622 (GRCm39)	missense	probably damaging	1.00
R6588:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R6615:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R6994:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R7359:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R7451:Bean1	UTSW	8	104,940,628 (GRCm39)	missense	probably benign	0.01
R7454:Bean1	UTSW	8	104,937,658 (GRCm39)	missense	probably damaging	1.00
R7473:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R7537:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R7826:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R8034:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R8418:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R8789:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R8885:Bean1	UTSW	8	104,908,752 (GRCm39)	critical splice donor site	probably null
R8888:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R8892:Bean1	UTSW	8	104,943,610 (GRCm39)	missense	probably damaging	1.00
R8992:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R9015:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R9113:Bean1	UTSW	8	104,940,557 (GRCm39)	missense	probably benign	0.00
R9122:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R9135:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R9151:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R9255:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R9340:Bean1	UTSW	8	104,908,739 (GRCm39)	missense	probably damaging	0.99
R9363:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R9417:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R9537:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R9566:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
R9731:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
RF054:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTGACCTCAATACCCCATG -3'
(R):5'- TCCACACTAGCCTTGGTCAG -3'

Sequencing Primer
(F):5'- GACCTCAATACCCCATGTGATATTC -3'
(R):5'- CTTGGTCAGGCTCAGTGC -3'

Posted On

2021-08-02