Mutagenetix > Incidental Mutation

Incidental Mutation 'R8885:Bean1'

677243

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 #

R8885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104170442-104219122 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 104182120 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129403 (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

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 benign
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% (104/104)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,323,406	S977C	possibly damaging	Het
4921507P07Rik	A	T	6: 50,574,048	Y474N	possibly damaging	Het
Abca8a	T	A	11: 110,069,479	D646V	probably damaging	Het
Adss	T	A	1: 177,769,960	Y378F	probably damaging	Het
Akap6	C	T	12: 53,141,536	A1911V	probably benign	Het
Alg2	T	C	4: 47,474,159	Y43C	probably benign	Het
Alk	A	C	17: 71,895,763	V1159G	probably damaging	Het
Alx3	A	T	3: 107,600,694	Q173L	probably damaging	Het
Aqp9	A	G	9: 71,162,311		probably benign	Het
Atf7ip	C	A	6: 136,587,143	L787I	probably benign	Het
Bbs9	A	T	9: 22,678,938	E657D	possibly damaging	Het
Cactin	G	T	10: 81,321,248	R13L	unknown	Het
Ccdc178	T	C	18: 22,067,664	E412G	probably damaging	Het
Ccdc30	A	G	4: 119,324,562	I583T	probably damaging	Het
Ccl8	T	C	11: 82,116,107	Y49H	probably damaging	Het
Clptm1	T	A	7: 19,639,007	K199N	probably damaging	Het
Cnbp	G	A	6: 87,845,664	S39L	probably benign	Het
Cnih3	T	A	1: 181,409,872		probably benign	Het
Cnksr3	A	T	10: 7,140,201		probably benign	Het
Cntn1	A	G	15: 92,261,499	I512V	probably benign	Het
Col20a1	A	G	2: 180,998,503		probably benign	Het
Col28a1	A	T	6: 8,127,360		probably benign	Het
Col6a2	A	T	10: 76,614,907	Y63*	probably null	Het
Copa	T	G	1: 172,097,745	F190V	probably damaging	Het
Crisp4	A	C	1: 18,136,924		probably benign	Het
Cxcl2	C	T	5: 90,904,226	Q64*	probably null	Het
Cxcr5	T	C	9: 44,514,252	D36G	probably benign	Het
Cyp20a1	T	A	1: 60,372,606	V271E	possibly damaging	Het
D430041D05Rik	T	C	2: 104,241,193	Y570C	probably damaging	Het
Ddi1	T	G	9: 6,266,198	D57A	probably benign	Het
Ddx11	T	A	17: 66,143,465	S492T	probably benign	Het
Dhx34	C	T	7: 16,216,451	R264H	probably damaging	Het
Dnah3	T	A	7: 119,962,152	I328F		Het
Dnah5	C	T	15: 28,327,740	R2087C	probably damaging	Het
Dnah8	C	G	17: 30,708,312	S1314W	possibly damaging	Het
Dock2	T	C	11: 34,310,396	N982D	probably benign	Het
Dync1h1	A	G	12: 110,616,738	D423G	probably damaging	Het
Ect2l	A	C	10: 18,172,835	L213V	probably damaging	Het
Fam210a	T	C	18: 68,276,144	I32V	probably benign	Het
Fancg	A	G	4: 43,007,266		probably null	Het
Fastkd5	T	C	2: 130,615,191	E493G	probably benign	Het
Fbxo38	T	C	18: 62,526,201	M342V	probably damaging	Het
Flnc	A	C	6: 29,455,411	K2020Q	probably damaging	Het
Flt4	A	G	11: 49,636,333		probably benign	Het
Frmd4b	G	T	6: 97,412,519	P129T	probably benign	Het
Galnt13	C	A	2: 54,880,126	A310E	probably benign	Het
Gm4884	T	A	7: 41,044,684	Y692*	probably null	Het
Gm6309	T	A	5: 146,168,293	D270V	probably damaging	Het
Grip1	G	T	10: 119,454,287		probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kdf1	G	T	4: 133,528,194	C74F	probably damaging	Het
Kdm1b	T	A	13: 47,053,708	C169*	probably null	Het
Kmt2c	G	T	5: 25,315,079	T2011K	probably benign	Het
Lama1	G	A	17: 67,773,784	G1269E		Het
Lamb3	C	T	1: 193,334,874	A791V	probably benign	Het
Leng9	G	T	7: 4,148,775	R301S	possibly damaging	Het
Lgr6	C	A	1: 134,987,604	V746L	probably benign	Het
Lrp5	T	A	19: 3,652,170	S216C	probably damaging	Het
Ltn1	T	C	16: 87,381,545	T1599A	probably damaging	Het
Map2k1	G	T	9: 64,187,324	N345K	probably damaging	Het
Map4k1	T	A	7: 28,989,437	D304E	probably benign	Het
Mcpt1	C	T	14: 56,019,065	T86I	probably damaging	Het
Mcpt9	T	C	14: 56,027,696	K116R	probably benign	Het
Morc2a	G	T	11: 3,678,584	A346S	probably damaging	Het
Mybpc3	A	T	2: 91,123,892	Q370L	probably benign	Het
Nars2	T	C	7: 97,002,888	S229P	probably damaging	Het
Ndufa10	A	T	1: 92,469,971	Y118N	probably damaging	Het
Nek11	A	T	9: 105,295,372		probably null	Het
Notch4	T	C	17: 34,584,496	V1463A	possibly damaging	Het
Nrcam	T	C	12: 44,564,125	I536T	probably benign	Het
Olfr771	T	C	10: 129,160,465	Y173C	probably benign	Het
Pbld1	A	T	10: 63,076,447	T285S	probably benign	Het
Pcdhgb8	A	T	18: 37,763,124	T416S	possibly damaging	Het
Plekhg6	T	C	6: 125,374,560	D242G	probably damaging	Het
Pnmt	T	A	11: 98,387,754	V182D	probably benign	Het
Ppp1r13b	G	T	12: 111,833,437	N758K	probably damaging	Het
Prex2	A	G	1: 11,170,575		probably benign	Het
Prss3	A	T	6: 41,377,578	L7Q	probably damaging	Het
Prss43	T	A	9: 110,830,978	L370Q	probably damaging	Het
Rac1	A	T	5: 143,508,130	V104E	probably damaging	Het
Rgs9	T	C	11: 109,275,623	Y107C	probably damaging	Het
Rnase13	C	T	14: 51,922,483	W66*	probably null	Het
Rrp1b	G	A	17: 32,051,714	V216I	possibly damaging	Het
Serinc1	A	G	10: 57,519,768	S309P	probably benign	Het
Serpine3	T	A	14: 62,665,138	L66Q	probably damaging	Het
Smc5	C	T	19: 23,213,870	V924M	probably damaging	Het
Srgap1	A	T	10: 121,925,640		probably benign	Het
Stab1	T	C	14: 31,161,814	E262G	possibly damaging	Het
Ston2	A	G	12: 91,639,724	*896R	probably null	Het
Syt6	A	G	3: 103,625,625	M442V	probably benign	Het
Tap1	T	C	17: 34,189,562		probably null	Het
Tbx3	A	C	5: 119,680,559	S420R	probably benign	Het
Tespa1	A	T	10: 130,362,447	Q446L	probably benign	Het
Tifab	T	C	13: 56,176,295	M112V	probably benign	Het
Trpv5	A	T	6: 41,653,258	S633T	possibly damaging	Het
Ttn	T	C	2: 76,853,892	K838R	unknown	Het
Ttn	A	T	2: 76,914,466	V5413E	probably damaging	Het
Tub	C	A	7: 109,029,586	N415K		Het
Vmn2r3	T	C	3: 64,274,962	M439V	probably benign	Het
Vps13c	A	G	9: 67,943,454	D2231G	probably benign	Het
Wbp1	C	T	6: 83,119,932	C118Y	unknown	Het
Zdhhc20	C	T	14: 57,890,214		probably benign	Het
Zfp217	T	A	2: 170,114,471	N869I	probably benign	Het
Zfp677	T	C	17: 21,398,088	I469T	probably benign	Het
Zmym2	T	A	14: 56,947,872		probably benign	Het
Zzef1	T	G	11: 72,796,576	S94A	probably benign	Het

Other mutations in Bean1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02016:Bean1	APN	8	104210918	missense	possibly damaging	0.90
R0135:Bean1	UTSW	8	104217175	missense	probably damaging	1.00
R0490:Bean1	UTSW	8	104215028	missense	possibly damaging	0.76
R1319:Bean1	UTSW	8	104217224	missense	probably benign
R1920:Bean1	UTSW	8	104211110	missense	possibly damaging	0.92
R2513:Bean1	UTSW	8	104182011	missense	probably benign	0.04
R3980:Bean1	UTSW	8	104211098	missense	possibly damaging	0.92
R4209:Bean1	UTSW	8	104213934	start codon destroyed	probably null	0.04
R4369:Bean1	UTSW	8	104217110	missense	probably damaging	1.00
R4516:Bean1	UTSW	8	104215154	missense	probably damaging	1.00
R4542:Bean1	UTSW	8	104210959	missense	probably damaging	1.00
R4663:Bean1	UTSW	8	104211167	missense	probably damaging	1.00
R4962:Bean1	UTSW	8	104216974	missense	probably damaging	1.00
R5221:Bean1	UTSW	8	104215152	missense	probably damaging	1.00
R6288:Bean1	UTSW	8	104210990	missense	probably damaging	1.00
R6588:Bean1	UTSW	8	104182032	frame shift	probably null
R6615:Bean1	UTSW	8	104182032	frame shift	probably null
R6994:Bean1	UTSW	8	104182032	frame shift	probably null
R7359:Bean1	UTSW	8	104182032	frame shift	probably null
R7451:Bean1	UTSW	8	104213996	missense	probably benign	0.01
R7454:Bean1	UTSW	8	104211026	missense	probably damaging	1.00
R7473:Bean1	UTSW	8	104182032	frame shift	probably null
R7537:Bean1	UTSW	8	104182032	frame shift	probably null
R7826:Bean1	UTSW	8	104182032	frame shift	probably null
R8034:Bean1	UTSW	8	104182032	frame shift	probably null
R8418:Bean1	UTSW	8	104182032	frame shift	probably null
R8789:Bean1	UTSW	8	104182032	frame shift	probably null
R8888:Bean1	UTSW	8	104182032	frame shift	probably null
R8892:Bean1	UTSW	8	104216978	missense	probably damaging	1.00
R8896:Bean1	UTSW	8	104182032	frame shift	probably null
R8992:Bean1	UTSW	8	104182032	frame shift	probably null
R9015:Bean1	UTSW	8	104182032	frame shift	probably null
R9113:Bean1	UTSW	8	104213925	missense	probably benign	0.00
R9122:Bean1	UTSW	8	104182032	frame shift	probably null
R9135:Bean1	UTSW	8	104182032	frame shift	probably null
R9151:Bean1	UTSW	8	104182032	frame shift	probably null
R9255:Bean1	UTSW	8	104182032	frame shift	probably null
R9340:Bean1	UTSW	8	104182107	missense	probably damaging	0.99
R9363:Bean1	UTSW	8	104182032	frame shift	probably null
R9417:Bean1	UTSW	8	104182032	frame shift	probably null
R9537:Bean1	UTSW	8	104182032	frame shift	probably null
R9566:Bean1	UTSW	8	104182032	frame shift	probably null
R9731:Bean1	UTSW	8	104182032	frame shift	probably null
RF054:Bean1	UTSW	8	104182032	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCCAAAAGTGATGAAAGCGC -3'
(R):5'- AGTGTGACTTTCAGGTTCCAG -3'

Sequencing Primer
(F):5'- CCTAGCCCCTGGACATGGTG -3'
(R):5'- ACTTTCAGGTTCCAGGCAGC -3'

Posted On

2021-08-02