Mutagenetix > Incidental Mutation

Incidental Mutation 'R9731:Bean1'

731401

Institutional Source

Beutler Lab

Gene Symbol

Bean1

Ensembl Gene

ENSMUSG00000031872

Gene Name

brain expressed, associated with Nedd4, 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9731 (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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	G	4: 109,362,918 (GRCm39)	S134R	probably damaging	Het
A930033H14Rik	T	A	10: 69,048,679 (GRCm39)	R53W	unknown	Het
Abca9	G	T	11: 110,025,024 (GRCm39)	D1006E	probably benign	Het
Abcc6	T	A	7: 45,669,660 (GRCm39)	R132*	probably null	Het
Ankrd40	C	T	11: 94,229,250 (GRCm39)	T283I	probably damaging	Het
Atr	A	G	9: 95,747,092 (GRCm39)	K125E	possibly damaging	Het
Cep290	A	T	10: 100,346,404 (GRCm39)	L527F	probably damaging	Het
Cep295	T	C	9: 15,245,262 (GRCm39)	N1065D	possibly damaging	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Ddx54	C	T	5: 120,758,807 (GRCm39)	A350V	probably benign	Het
Defb23	C	T	2: 152,301,333 (GRCm39)	V80I	probably benign	Het
Dennd5b	G	A	6: 148,970,138 (GRCm39)	T127I	probably damaging	Het
Dnah6	G	T	6: 73,168,589 (GRCm39)	Q445K	probably benign	Het
Dync2h1	T	C	9: 7,141,166 (GRCm39)	H1287R	probably benign	Het
Enpp7	G	A	11: 118,879,151 (GRCm39)	G37R	probably damaging	Het
Exoc2	T	C	13: 31,061,233 (GRCm39)	T554A	probably benign	Het
Fgf8	T	C	19: 45,730,846 (GRCm39)	N60D	probably benign	Het
Gdi2	A	G	13: 3,588,299 (GRCm39)	M1V	probably null	Het
Glra3	G	T	8: 56,542,058 (GRCm39)	R267L	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,598 (GRCm39)	R1455H	probably damaging	Het
Grk6	C	A	13: 55,607,640 (GRCm39)	P575T	possibly damaging	Het
Hpgd	A	T	8: 56,751,391 (GRCm39)	D73V	probably benign	Het
Hpse	G	A	5: 100,842,022 (GRCm39)	H288Y	probably damaging	Het
Hpse2	G	A	19: 42,794,826 (GRCm39)	R506*	probably null	Het
Ing1	C	A	8: 11,611,649 (GRCm39)	T123N	probably benign	Het
Kdm2b	T	C	5: 123,125,823 (GRCm39)	D27G	probably benign	Het
Kmt2c	A	T	5: 25,577,956 (GRCm39)	D773E	probably benign	Het
Lrrc7	T	C	3: 157,880,888 (GRCm39)	D516G	probably benign	Het
Lrsam1	A	G	2: 32,835,452 (GRCm39)		probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Meak7	C	A	8: 120,498,010 (GRCm39)	A165S	probably benign	Het
Ndufaf3	T	C	9: 108,443,158 (GRCm39)	*186W	probably null	Het
Ndufaf5	C	T	2: 140,012,807 (GRCm39)	A59V	possibly damaging	Het
Nphp3	T	C	9: 103,886,369 (GRCm39)	L281S	probably damaging	Het
Or10a4	T	G	7: 106,696,786 (GRCm39)	V38G	probably benign	Het
Or4c12	T	A	2: 89,774,316 (GRCm39)	I48F	possibly damaging	Het
Or8b37	A	T	9: 37,958,892 (GRCm39)	I125F	probably damaging	Het
Otogl	G	T	10: 107,735,328 (GRCm39)	T152K	probably damaging	Het
Oxgr1	C	T	14: 120,260,094 (GRCm39)	V38I	probably benign	Het
Polr2a	G	A	11: 69,638,043 (GRCm39)	T142M	possibly damaging	Het
Pou6f1	C	T	15: 100,476,206 (GRCm39)	R560Q	possibly damaging	Het
Ptgr3	T	G	18: 84,113,128 (GRCm39)	V268G	probably damaging	Het
Rbm33	A	G	5: 28,544,242 (GRCm39)	E166G	probably damaging	Het
Rgs14	T	A	13: 55,528,784 (GRCm39)	Y308*	probably null	Het
Rpl10a	T	C	17: 28,547,594 (GRCm39)		probably benign	Het
Rras2	A	C	7: 113,659,593 (GRCm39)	I57S	probably damaging	Het
Scn1b	C	T	7: 30,824,596 (GRCm39)	V31M	probably damaging	Het
Sema6d	G	A	2: 124,506,117 (GRCm39)	A642T	probably damaging	Het
Sis	T	A	3: 72,835,543 (GRCm39)	T940S	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc22a27	G	A	19: 7,904,126 (GRCm39)	Q4*	probably null	Het
Slc44a2	T	A	9: 21,263,770 (GRCm39)	I646N	possibly damaging	Het
Sprtn	C	A	8: 125,629,704 (GRCm39)	Y332*	probably null	Het
Srpk1	A	G	17: 28,825,297 (GRCm39)	I125T	probably damaging	Het
Sv2b	G	A	7: 74,786,068 (GRCm39)	H451Y	probably benign	Het
Tec	G	A	5: 72,939,439 (GRCm39)	T192M	probably benign	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trim25	C	A	11: 88,906,391 (GRCm39)	P405T	probably benign	Het
Trpm4	T	C	7: 44,958,054 (GRCm39)	D952G	probably damaging	Het
Tsc1	A	G	2: 28,566,486 (GRCm39)	D635G	probably benign	Het
Ttc7b	T	C	12: 100,461,683 (GRCm39)	E98G	possibly damaging	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Usp19	T	A	9: 108,376,885 (GRCm39)	S1153T	probably damaging	Het
Vmn2r63	A	T	7: 42,553,361 (GRCm39)	L632M	probably benign	Het
Vps13c	C	T	9: 67,826,526 (GRCm39)	T1389I	probably benign	Het
Wasf1	T	A	10: 40,806,731 (GRCm39)	Y125N	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
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
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
RF054:Bean1	UTSW	8	104,908,664 (GRCm39)	frame shift	probably null

Predicted Primers

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

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

Posted On

2022-11-14