Mutagenetix > Incidental Mutation

Incidental Mutation 'R7454:Bean1'

578001

Institutional Source

Beutler Lab

Gene Symbol

Bean1

Ensembl Gene

ENSMUSG00000031872

Gene Name

brain expressed, associated with Nedd4, 1

Synonyms

MMRRC Submission

045528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104897110-104945730 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104937658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 79 (G79D)

Ref Sequence

ENSEMBL: ENSMUSP00000129403 (fasta)

Gene Model

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

AlphaFold

Q9EQG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000093245
AA Change: G45D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090931
Gene: ENSMUSG00000031872
AA Change: G45D

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 damaging
Transcript: ENSMUST00000167633
AA Change: G45D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131530
Gene: ENSMUSG00000031872
AA Change: G45D

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 damaging
Transcript: ENSMUST00000171018
AA Change: G79D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129403
Gene: ENSMUSG00000031872
AA Change: G79D

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 damaging
Transcript: ENSMUST00000212979
AA Change: G79D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000213077

Meta Mutation Damage Score

0.5490

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (90/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,655,601 (GRCm39)	E57G	possibly damaging	Het
4932414N04Rik	C	A	2: 68,518,648 (GRCm39)	T159K	unknown	Het
Adamts10	T	A	17: 33,763,979 (GRCm39)	F616L	possibly damaging	Het
Adtrp	G	A	13: 41,981,791 (GRCm39)	S26L	unknown	Het
Alpk3	A	C	7: 80,728,310 (GRCm39)	E480A	probably benign	Het
Anks6	T	C	4: 47,038,919 (GRCm39)	T529A	unknown	Het
Arl4d	A	G	11: 101,557,486 (GRCm39)	H4R	probably benign	Het
Ash1l	A	G	3: 88,891,172 (GRCm39)	H1017R	probably benign	Het
Bbs12	T	C	3: 37,375,102 (GRCm39)	S517P	possibly damaging	Het
Bcl11b	C	A	12: 107,882,467 (GRCm39)	R616L	possibly damaging	Het
Bicra	C	G	7: 15,706,059 (GRCm39)	G1461R	probably benign	Het
Bptf	T	C	11: 106,935,466 (GRCm39)	T124A	probably benign	Het
Btnl4	A	T	17: 34,691,348 (GRCm39)	V312E	probably benign	Het
Ccdc7a	A	G	8: 129,670,997 (GRCm39)	M503T	unknown	Het
Celf5	T	C	10: 81,318,357 (GRCm39)	E28G	probably damaging	Het
Cilp2	G	A	8: 70,336,040 (GRCm39)	L350F	probably damaging	Het
Clec4a2	T	C	6: 123,119,411 (GRCm39)	I245T	probably damaging	Het
Ctnnal1	A	T	4: 56,844,544 (GRCm39)	V140D	probably damaging	Het
Dennd4a	A	C	9: 64,759,852 (GRCm39)	H319P	probably damaging	Het
Dlgap3	G	T	4: 127,128,852 (GRCm39)	L857F	probably null	Het
Dnah6	T	A	6: 73,189,475 (GRCm39)	T58S	probably damaging	Het
Dnah7a	T	A	1: 53,557,923 (GRCm39)	M2164L	probably benign	Het
Dspp	T	A	5: 104,323,476 (GRCm39)	H206Q	probably benign	Het
Dzip1l	G	A	9: 99,541,727 (GRCm39)	V443M	possibly damaging	Het
Erc2	A	G	14: 28,024,948 (GRCm39)	H939R	possibly damaging	Het
Fam149a	G	T	8: 45,801,583 (GRCm39)	H513N	probably benign	Het
Fam171a2	T	C	11: 102,330,543 (GRCm39)	T280A	possibly damaging	Het
Fkbp5	A	C	17: 28,634,999 (GRCm39)	V170G	probably damaging	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,608,159 (GRCm39)		probably benign	Het
Fzd2	T	C	11: 102,495,955 (GRCm39)	F133S	probably damaging	Het
Galm	A	G	17: 80,445,550 (GRCm39)	N100S	possibly damaging	Het
Gbp2b	T	A	3: 142,303,920 (GRCm39)	I5N	possibly damaging	Het
Gga2	T	C	7: 121,601,369 (GRCm39)	R245G	probably benign	Het
Gm10053	A	G	19: 24,853,264 (GRCm39)	T50A	probably benign	Het
Gm1110	T	C	9: 26,831,945 (GRCm39)	T69A	probably benign	Het
Heatr5a	T	C	12: 52,008,326 (GRCm39)	S6G	probably benign	Het
Hmcn1	A	G	1: 150,439,355 (GRCm39)	S5610P	probably damaging	Het
Hmgb4	A	G	4: 128,154,199 (GRCm39)	V123A	probably damaging	Het
Itgal	C	A	7: 126,926,936 (GRCm39)	Q943K	probably benign	Het
Jakmip1	C	A	5: 37,332,498 (GRCm39)	D1059E	probably damaging	Het
Jazf1	T	C	6: 52,870,929 (GRCm39)		probably null	Het
Kat6a	A	G	8: 23,425,788 (GRCm39)	E1111G	possibly damaging	Het
Kdm4b	C	A	17: 56,696,639 (GRCm39)	P452T	probably benign	Het
Krit1	T	C	5: 3,862,474 (GRCm39)	Y210H	probably damaging	Het
Krtap6-2	A	T	16: 89,216,800 (GRCm39)	Y56N	unknown	Het
Lig1	A	T	7: 13,022,647 (GRCm39)	D158V	probably damaging	Het
Lmo1	A	T	7: 108,739,873 (GRCm39)	L94Q	probably benign	Het
Lrrc30	A	T	17: 67,939,238 (GRCm39)	L114H	probably damaging	Het
Ltn1	T	C	16: 87,194,700 (GRCm39)	I1400V	probably benign	Het
Mark3	T	C	12: 111,570,961 (GRCm39)	I87T	probably damaging	Het
Mfrp	G	T	9: 44,016,480 (GRCm39)	V392F	possibly damaging	Het
Mrgprg	A	G	7: 143,318,872 (GRCm39)	L80P	probably damaging	Het
Ndufaf3	A	T	9: 108,444,125 (GRCm39)	M1K	probably null	Het
Nme7	T	A	1: 164,208,217 (GRCm39)	L295*	probably null	Het
Noct	G	T	3: 51,157,151 (GRCm39)	C163F	probably damaging	Het
Or11h4b	T	A	14: 50,918,281 (GRCm39)	Q270L	possibly damaging	Het
Or13a26	A	T	7: 140,284,547 (GRCm39)	I128F	probably damaging	Het
Or4b1	T	A	2: 89,979,763 (GRCm39)	I196F	possibly damaging	Het
Or5ak22	T	A	2: 85,229,955 (GRCm39)	K307N	probably damaging	Het
Or6c203	T	A	10: 129,010,324 (GRCm39)	T189S	probably damaging	Het
Or8g2	A	G	9: 39,821,200 (GRCm39)	I34V	probably benign	Het
Patz1	C	T	11: 3,248,297 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,097,185 (GRCm39)	L780P	probably benign	Het
Pira1	T	G	7: 3,738,509 (GRCm39)	E622D	probably benign	Het
Pla2g4a	T	C	1: 149,748,441 (GRCm39)	M256V	possibly damaging	Het
Pnliprp1	A	G	19: 58,729,532 (GRCm39)	K395R	probably benign	Het
Poc5	G	T	13: 96,537,340 (GRCm39)	G242V	possibly damaging	Het
Ppfia4	A	G	1: 134,251,873 (GRCm39)	S434P	possibly damaging	Het
Prss42	A	G	9: 110,627,897 (GRCm39)	N110S	probably benign	Het
Ralgapb	T	A	2: 158,274,822 (GRCm39)	I241N	possibly damaging	Het
Rbak	A	C	5: 143,159,528 (GRCm39)	Y508*	probably null	Het
S1pr2	G	T	9: 20,878,845 (GRCm39)	R328S	possibly damaging	Het
Sap130	T	C	18: 31,783,565 (GRCm39)	M214T	probably benign	Het
Slc46a1	T	A	11: 78,357,337 (GRCm39)	V130E	probably damaging	Het
Smc4	A	T	3: 68,925,457 (GRCm39)	H343L	probably benign	Het
Tarbp1	C	A	8: 127,184,416 (GRCm39)	R500L	probably benign	Het
Tasor2	A	G	13: 3,635,332 (GRCm39)	S492P	probably benign	Het
Tgfbr3	A	T	5: 107,362,894 (GRCm39)	H39Q	probably damaging	Het
Tpp2	T	C	1: 43,993,819 (GRCm39)	S235P	probably benign	Het
Trbc2	G	T	6: 41,523,763 (GRCm39)	R33M		Het
Trim3	C	T	7: 105,268,765 (GRCm39)	R63Q	probably damaging	Het
Ttc28	T	C	5: 111,433,350 (GRCm39)	V2128A	probably benign	Het
Ttn	C	T	2: 76,556,162 (GRCm39)	R30281H	probably damaging	Het
Ttn	T	A	2: 76,774,483 (GRCm39)	Q2187L	unknown	Het
Ttyh3	T	C	5: 140,615,180 (GRCm39)	S403G	possibly damaging	Het
Vmn2r112	A	T	17: 22,822,288 (GRCm39)	D322V	probably benign	Het
Wdr38	C	T	2: 38,888,352 (GRCm39)		probably benign	Het
Xrn1	T	A	9: 95,930,411 (GRCm39)	S1543R	probably benign	Het
Zbtb8b	G	A	4: 129,326,562 (GRCm39)	T201I	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
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'- TCCCAGGACAACAAGGTTGAG -3'
(R):5'- TGAGATTCTAGCCCTGGACACC -3'

Sequencing Primer
(F):5'- GAGAATAAGGTTTGTGGCAGGCC -3'
(R):5'- TGGACACCTCCTTAAGTCAGC -3'

Posted On

2019-10-07