Mutagenetix > Incidental Mutation

Incidental Mutation 'R7359:Bean1'

571199

Institutional Source

Beutler Lab

Gene Symbol

Bean1

Ensembl Gene

ENSMUSG00000031872

Gene Name

brain expressed, associated with Nedd4, 1

Synonyms

MMRRC Submission

045445-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7359 (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: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (87/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,236,348 (GRCm39)	V1233A	possibly damaging	Het
Abcc9	G	A	6: 142,617,408 (GRCm39)	T552I	probably damaging	Het
Adgrf4	T	C	17: 42,978,003 (GRCm39)	I447V	possibly damaging	Het
Akirin2	T	A	4: 34,565,944 (GRCm39)	D178E	probably damaging	Het
Arhgap12	T	C	18: 6,065,709 (GRCm39)	E359G	possibly damaging	Het
Arhgef5	A	C	6: 43,257,216 (GRCm39)	T1256P	probably damaging	Het
Avpr1a	A	C	10: 122,285,283 (GRCm39)	I192L	possibly damaging	Het
B4galnt4	A	G	7: 140,651,197 (GRCm39)	H926R	probably damaging	Het
Ccdc68	C	T	18: 70,089,123 (GRCm39)	A222V	probably benign	Het
Cdc23	T	C	18: 34,774,394 (GRCm39)	Y295C	probably benign	Het
Ceacam10	T	C	7: 24,480,432 (GRCm39)	Y188H	unknown	Het
Cfap57	T	A	4: 118,456,162 (GRCm39)	T511S	probably benign	Het
Cftr	T	C	6: 18,221,623 (GRCm39)	V245A	probably benign	Het
Cit	A	G	5: 116,064,633 (GRCm39)	D505G	probably damaging	Het
Cmah	T	G	13: 24,652,539 (GRCm39)	N556K	probably benign	Het
Cspg4b	T	C	13: 113,478,964 (GRCm39)	S1503P		Het
D430041D05Rik	C	A	2: 104,044,482 (GRCm39)	D839Y	probably damaging	Het
Dek	T	C	13: 47,259,065 (GRCm39)	D47G	unknown	Het
Des	C	T	1: 75,337,596 (GRCm39)	R179C	probably damaging	Het
Desi2	A	G	1: 178,015,509 (GRCm39)	N10D	probably benign	Het
Dlg5	T	C	14: 24,214,615 (GRCm39)	N679S	probably damaging	Het
Dnajc24	T	C	2: 105,832,293 (GRCm39)	Y30C	probably damaging	Het
Dock10	T	A	1: 80,687,065 (GRCm39)	H34L	probably benign	Het
Dock5	A	G	14: 68,003,337 (GRCm39)	V1586A	probably benign	Het
Dpy19l4	A	G	4: 11,273,125 (GRCm39)	V576A	probably benign	Het
Dusp6	A	G	10: 99,099,927 (GRCm39)	E125G	probably benign	Het
Dync1h1	T	C	12: 110,591,036 (GRCm39)	Y1035H	probably benign	Het
Dysf	G	A	6: 84,172,306 (GRCm39)		probably null	Het
En1	A	G	1: 120,534,817 (GRCm39)	K369E	unknown	Het
F2r	A	G	13: 95,741,194 (GRCm39)	Y114H	probably damaging	Het
Fam184a	T	C	10: 53,575,318 (GRCm39)	Y97C	probably damaging	Het
Fggy	T	C	4: 95,657,717 (GRCm39)	V286A	probably benign	Het
Flot2	T	C	11: 77,949,383 (GRCm39)	I322T	probably benign	Het
Fndc1	A	T	17: 8,032,318 (GRCm39)		probably null	Het
Frs3	A	G	17: 48,010,450 (GRCm39)	D28G	probably damaging	Het
Gimap3	C	T	6: 48,742,280 (GRCm39)	D217N	probably benign	Het
Gm128	A	G	3: 95,147,934 (GRCm39)	V120A	probably benign	Het
Gm17190	T	C	13: 96,218,970 (GRCm39)	V102A	probably damaging	Het
Gm17268	A	G	11: 81,919,057 (GRCm39)	V20A	unknown	Het
Grsf1	A	T	5: 88,813,423 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,278,395 (GRCm39)	Y1699F	probably benign	Het
Hnmt	T	A	2: 23,938,731 (GRCm39)	M36L	probably benign	Het
Hoxd1	C	A	2: 74,594,447 (GRCm39)	T234K	probably damaging	Het
Hydin	C	G	8: 111,232,733 (GRCm39)	S1679R	probably damaging	Het
Jag1	T	C	2: 136,926,226 (GRCm39)	R1059G	probably benign	Het
Kbtbd11	T	C	8: 15,078,858 (GRCm39)	W486R	probably damaging	Het
Kcnh6	A	G	11: 105,909,789 (GRCm39)	D438G	possibly damaging	Het
Lgals4	T	G	7: 28,540,724 (GRCm39)	F276V	probably benign	Het
Lrp6	G	T	6: 134,427,923 (GRCm39)	Y1556*	probably null	Het
Mpdz	G	A	4: 81,274,632 (GRCm39)	L855F	probably benign	Het
Muc16	A	T	9: 18,554,316 (GRCm39)	D3992E	unknown	Het
Npc1	T	C	18: 12,328,237 (GRCm39)	N1024S	probably benign	Het
Nsfl1c	A	G	2: 151,336,279 (GRCm39)	T18A	probably benign	Het
Or12e8	T	A	2: 87,188,555 (GRCm39)	L256I	possibly damaging	Het
Or12k5	A	T	2: 36,895,449 (GRCm39)	M59K	probably damaging	Het
Or2g7	G	A	17: 38,378,506 (GRCm39)	W148*	probably null	Het
Or8g31-ps1	T	C	9: 39,276,775 (GRCm39)	*307R	probably null	Het
Pcdh15	A	T	10: 74,420,048 (GRCm39)	K1235N	probably damaging	Het
Pcif1	A	G	2: 164,726,251 (GRCm39)	K51E	probably damaging	Het
Pde1b	G	A	15: 103,429,752 (GRCm39)	D82N	probably damaging	Het
Phf23	T	A	11: 69,889,467 (GRCm39)	V167E	possibly damaging	Het
Pik3c2g	T	C	6: 139,913,620 (GRCm39)	V1006A	unknown	Het
Pira12	T	A	7: 3,901,103 (GRCm39)		probably benign	Het
Pkhd1l1	G	T	15: 44,452,882 (GRCm39)	V3936F	probably damaging	Het
Pnpla1	T	C	17: 29,100,159 (GRCm39)	V342A	probably benign	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppl	A	G	16: 4,907,205 (GRCm39)	L1030P	possibly damaging	Het
Prelid1	A	T	13: 55,469,088 (GRCm39)		probably benign	Het
Racgap1	C	T	15: 99,529,081 (GRCm39)	S264N	probably benign	Het
Rdh13	T	C	7: 4,430,696 (GRCm39)	D289G	probably benign	Het
Rtp3	T	C	9: 110,815,364 (GRCm39)	I334V	probably benign	Het
Setd2	A	T	9: 110,392,012 (GRCm39)	D200V		Het
Simc1	A	G	13: 54,651,731 (GRCm39)	S15G	unknown	Het
Sirpb1c	A	T	3: 15,887,389 (GRCm39)	M150K	probably benign	Het
Smoc1	T	A	12: 81,197,475 (GRCm39)	D202E	probably damaging	Het
Spata31d1b	A	G	13: 59,860,304 (GRCm39)	Y59C	probably damaging	Het
Stard9	A	G	2: 120,528,761 (GRCm39)	T1673A	probably damaging	Het
Tbc1d31	T	A	15: 57,779,504 (GRCm39)	H72Q	probably benign	Het
Tgfbrap1	C	A	1: 43,114,693 (GRCm39)	V136L	probably damaging	Het
Top2b	A	G	14: 16,407,376 (GRCm38)	N720S	probably null	Het
Vmn1r11	T	C	6: 57,115,184 (GRCm39)	S283P	probably damaging	Het
Vmn1r19	A	G	6: 57,382,080 (GRCm39)	H211R	probably damaging	Het
Vmn2r44	A	T	7: 8,370,538 (GRCm39)	M836K	probably benign	Het
Vmn2r61	A	C	7: 41,915,407 (GRCm39)	H118P	probably benign	Het
Vps33a	A	G	5: 123,696,696 (GRCm39)	I319T	probably benign	Het
Vwf	T	A	6: 125,543,220 (GRCm39)	S151T		Het
Zfp423	T	C	8: 88,508,871 (GRCm39)	N491S	possibly damaging	Het
Zfp626	T	C	7: 27,507,660 (GRCm39)	F23S	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
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
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'- GTGACCTCAATACCCCATGTG -3'
(R):5'- TCCACACTAGCCTTGGTCAG -3'

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

Posted On

2019-09-13