Mutagenetix > Incidental Mutation

Incidental Mutation 'R9255:Bean1'

701811

Institutional Source

Beutler Lab

Gene Symbol

Bean1

Ensembl Gene

ENSMUSG00000031872

Gene Name

brain expressed, associated with Nedd4, 1

Synonyms

MMRRC Submission

068961-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9255 (G1)

Quality Score

214.458

Status

Not 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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,626,795 (GRCm39)	Y549C	probably damaging	Het
Abca13	A	C	11: 9,278,213 (GRCm39)	N3131T	probably damaging	Het
Acap3	T	C	4: 155,990,145 (GRCm39)	V775A	probably benign	Het
Actn3	T	A	19: 4,921,820 (GRCm39)	I149F	probably damaging	Het
Adcy2	A	T	13: 69,036,199 (GRCm39)	M154K	possibly damaging	Het
Agbl1	A	T	7: 76,416,150 (GRCm39)	M976L	unknown	Het
Agbl3	T	A	6: 34,789,840 (GRCm39)	M531K	probably damaging	Het
Armc8	A	C	9: 99,379,441 (GRCm39)	M495R	possibly damaging	Het
Astn2	T	A	4: 65,563,085 (GRCm39)	K899*	probably null	Het
Atp10b	T	A	11: 43,107,148 (GRCm39)	H727Q	probably damaging	Het
Bach1	A	G	16: 87,519,401 (GRCm39)	I564V	possibly damaging	Het
Ccdc136	T	A	6: 29,409,237 (GRCm39)	H183Q	probably benign	Het
Celf3	T	C	3: 94,392,594 (GRCm39)	F98L	probably benign	Het
Chrd	G	A	16: 20,558,801 (GRCm39)	C845Y	probably damaging	Het
Clec1a	T	G	6: 129,409,208 (GRCm39)	K139N	probably benign	Het
Cntln	T	G	4: 85,019,103 (GRCm39)	N130K	possibly damaging	Het
Cog1	A	T	11: 113,547,019 (GRCm39)	T538S	probably benign	Het
Cog8	A	G	8: 107,779,383 (GRCm39)	I298T	probably damaging	Het
Dio1	A	T	4: 107,164,102 (GRCm39)	W72R	probably damaging	Het
Elapor1	T	C	3: 108,376,864 (GRCm39)	R453G	probably damaging	Het
Exph5	T	A	9: 53,284,609 (GRCm39)	N563K	possibly damaging	Het
Foxn1	C	A	11: 78,252,399 (GRCm39)	E330*	probably null	Het
Fzd7	G	T	1: 59,522,495 (GRCm39)	R126L	possibly damaging	Het
Gmnn	A	G	13: 24,937,351 (GRCm39)	Y147H	probably benign	Het
Gpa33	A	G	1: 165,980,186 (GRCm39)	N83S	probably benign	Het
Hdac4	A	G	1: 91,889,173 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,261,972 (GRCm39)	D2691G	probably benign	Het
Ifi203	A	T	1: 173,756,787 (GRCm39)	I332N	unknown	Het
Inpp1	A	G	1: 52,829,306 (GRCm39)	S238P	probably benign	Het
Jmy	A	G	13: 93,589,894 (GRCm39)		probably null	Het
Kcnab3	C	T	11: 69,222,337 (GRCm39)	Q327*	probably null	Het
Kctd1	A	G	18: 15,194,853 (GRCm39)	V590A	probably benign	Het
Lrrc8e	A	T	8: 4,284,504 (GRCm39)	H243L	probably damaging	Het
Lsr	A	G	7: 30,657,670 (GRCm39)	L498S	probably benign	Het
Mapkbp1	A	G	2: 119,843,556 (GRCm39)	D268G	probably damaging	Het
Mfn1	T	C	3: 32,598,287 (GRCm39)	V203A	possibly damaging	Het
Micu1	T	A	10: 59,604,051 (GRCm39)	I212N	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Or11i1	A	G	3: 106,729,737 (GRCm39)	I46T	probably benign	Het
Or12j4	T	C	7: 140,046,423 (GRCm39)	F103S	probably damaging	Het
Or8g30	T	C	9: 39,230,487 (GRCm39)	Y141C	probably benign	Het
Pabpc6	T	C	17: 9,886,769 (GRCm39)	E594G	probably damaging	Het
Pald1	A	T	10: 61,176,989 (GRCm39)		probably null	Het
Pdpk1	A	G	17: 24,325,938 (GRCm39)	I113T	possibly damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pi4kb	T	C	3: 94,906,219 (GRCm39)	S589P	probably damaging	Het
Pik3ca	G	A	3: 32,496,981 (GRCm39)		probably null	Het
Plekhg4	A	T	8: 106,103,271 (GRCm39)	M315L	probably benign	Het
Proz	G	A	8: 13,123,472 (GRCm39)	V248M	possibly damaging	Het
Prss1	T	C	6: 41,438,183 (GRCm39)	Y37H	probably damaging	Het
R3hdml	T	A	2: 163,337,612 (GRCm39)	W89R	probably damaging	Het
Ranbp3l	A	G	15: 9,057,293 (GRCm39)	T319A	probably benign	Het
Scn4a	C	T	11: 106,215,054 (GRCm39)	A1246T	probably damaging	Het
Sdr42e1	T	A	8: 118,389,999 (GRCm39)	Y214F	probably benign	Het
Slc10a2	C	T	8: 5,148,565 (GRCm39)	V127I	probably benign	Het
Slc16a1	T	A	3: 104,560,148 (GRCm39)	M151K	possibly damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Ssbp2	T	A	13: 91,818,525 (GRCm39)	M171K	possibly damaging	Het
Styk1	A	G	6: 131,286,946 (GRCm39)	V183A	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tspan18	T	G	2: 93,040,200 (GRCm39)	D185A	probably benign	Het
Tti2	T	A	8: 31,645,570 (GRCm39)	F320Y	probably damaging	Het
Ttn	T	C	2: 76,608,621 (GRCm39)	I17798M	probably damaging	Het
Ube2j1	C	A	4: 33,036,759 (GRCm39)	H28N	probably benign	Het
Vmn1r195	A	C	13: 22,463,342 (GRCm39)	I271L	possibly damaging	Het
Vmn2r81	A	C	10: 79,103,166 (GRCm39)	T120P	possibly damaging	Het
Vmn2r-ps158	A	T	7: 42,673,965 (GRCm39)	Y348F	possibly damaging	Het
Wtip	A	G	7: 33,824,908 (GRCm39)		probably null	Het
Zc3h12d	C	T	10: 7,729,022 (GRCm39)	H129Y	probably damaging	Het
Zfp600	T	G	4: 146,131,673 (GRCm39)	S114A	possibly 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
R8896:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null
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
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'- ACTCCAGGTCCACTCAAGAG -3'
(R):5'- TGGTGCCATCTTTACGACTC -3'

Sequencing Primer
(F):5'- GTCCACTCAAGAGAGAGATCTGC -3'
(R):5'- CTGCCCTCTAGCTCTGCAGTAG -3'

Posted On

2022-03-25