Mutagenetix > Incidental Mutation

Incidental Mutation 'R2269:Sh3bp4'

242280

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp4

Ensembl Gene

ENSMUSG00000036206

Gene Name

SH3-domain binding protein 4

Synonyms

BOG25

MMRRC Submission

040269-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89070415-89155068 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89145592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 721 (V721I)

Ref Sequence

ENSEMBL: ENSMUSP00000067581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066279]

AlphaFold

Q921I6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066279
AA Change: V721I

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: V721I

Domain	Start	End	E-Value	Type
SH3	58	113	5.04e-13	SMART
low complexity region	196	212	N/A	INTRINSIC
Pfam:ZU5	318	411	1.8e-12	PFAM
Pfam:SH3_2	657	721	3.5e-13	PFAM

Meta Mutation Damage Score

0.0653

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,431,160	D165G	probably benign	Het
Abca8a	A	C	11: 110,026,892	F1574V	probably damaging	Het
Adh6a	A	T	3: 138,329,096	I329L	probably benign	Het
Agap2	T	A	10: 127,082,428		probably benign	Het
Ager	A	T	17: 34,599,150	I185F	probably damaging	Het
Agrn	C	T	4: 156,179,218	G173R	probably damaging	Het
Arhgef16	T	A	4: 154,285,033	H329L	probably damaging	Het
Astn1	T	C	1: 158,502,099	Y175H	probably damaging	Het
Banp	A	G	8: 121,975,923	T70A	probably benign	Het
Bcl11b	T	C	12: 107,915,651	T802A	possibly damaging	Het
Ces2a	A	T	8: 104,740,190	I65F	probably benign	Het
Cflar	G	A	1: 58,741,047		probably null	Het
Clec16a	G	A	16: 10,644,786	R656H	probably damaging	Het
Cntn1	A	G	15: 92,294,982		probably benign	Het
Coasy	A	G	11: 101,085,882	T493A	probably benign	Het
Col16a1	C	A	4: 130,052,918	H111Q	probably benign	Het
Commd8	A	G	5: 72,165,422	W51R	probably damaging	Het
Cyp3a41b	A	T	5: 145,578,166	V83D	probably benign	Het
D2hgdh	C	T	1: 93,835,435	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,481,275		probably benign	Het
Decr2	C	A	17: 26,083,884	V173L	probably benign	Het
Defb11	A	G	8: 21,905,428	*78Q	probably null	Het
Dock3	C	A	9: 106,941,326	V1190F	probably damaging	Het
Dusp1	A	T	17: 26,507,119	I200N	probably damaging	Het
Efna1	G	A	3: 89,276,339	A60V	possibly damaging	Het
Egfl8	C	T	17: 34,613,858	V253M	probably damaging	Het
Epb41	T	A	4: 131,964,147	N623I	probably benign	Het
Fbxw22	C	T	9: 109,383,994	R295K	probably benign	Het
Foxn4	T	C	5: 114,255,601	T486A	probably damaging	Het
Gbe1	C	T	16: 70,436,952	A239V	probably damaging	Het
Gpatch3	C	T	4: 133,583,807	A518V	possibly damaging	Het
Gpc6	A	T	14: 117,888,520		probably null	Het
Hdhd2	C	T	18: 76,965,170	T172M	probably benign	Het
Heatr5a	T	C	12: 51,893,745	D1444G	possibly damaging	Het
Hnrnpul1	A	G	7: 25,750,874	Y138H	probably damaging	Het
Itgal	A	G	7: 127,306,701	I352V	possibly damaging	Het
Klhl31	A	G	9: 77,650,158	D52G	possibly damaging	Het
Klk1b21	T	C	7: 44,104,439	I49T	possibly damaging	Het
Lama2	T	A	10: 26,992,936	I2838F	probably damaging	Het
Lrrc43	A	T	5: 123,503,291	T513S	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mamdc2	A	T	19: 23,303,903		probably benign	Het
Mpdz	A	G	4: 81,383,391	S266P	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mroh5	T	C	15: 73,793,148	N258D	probably benign	Het
Mrpl28	T	C	17: 26,126,311	V235A	probably benign	Het
Mtbp	G	A	15: 55,569,160		probably null	Het
Mtss1l	A	G	8: 110,728,730	K92E	possibly damaging	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Nav1	A	T	1: 135,472,236	L532*	probably null	Het
Olfr1330	A	T	4: 118,893,874	R264W	probably damaging	Het
Olfr382	A	G	11: 73,516,483	S239P	probably damaging	Het
Olfr583	G	A	7: 103,052,137	V280I	probably benign	Het
Pappa2	A	G	1: 158,857,271	M766T	probably damaging	Het
Pkhd1	C	T	1: 20,534,535		probably null	Het
Plch2	T	C	4: 154,993,004	E423G	probably benign	Het
Prrc1	G	T	18: 57,381,646	D312Y	probably damaging	Het
Pxdn	T	A	12: 30,005,775	V1220E	probably damaging	Het
Robo1	T	A	16: 72,978,772	F728L	probably benign	Het
Rtel1	G	T	2: 181,336,003	Q292H	probably benign	Het
Slc2a10	T	A	2: 165,514,781	C120*	probably null	Het
Srd5a2	T	C	17: 74,024,490	R171G	probably damaging	Het
Srsf4	T	C	4: 131,897,682	V130A	probably damaging	Het
Styk1	T	C	6: 131,312,576	E25G	probably benign	Het
Taar8b	T	C	10: 24,091,372	N308S	probably damaging	Het
Tbc1d14	A	G	5: 36,543,217	L269P	possibly damaging	Het
Tbx1	T	C	16: 18,581,994		probably null	Het
Tmem233	G	C	5: 116,051,458		probably benign	Het
Tmem252	T	C	19: 24,674,091	I8T	probably benign	Het
Vcp	G	A	4: 42,980,833	A759V	possibly damaging	Het
Vmn2r107	T	C	17: 20,375,555	I790T	possibly damaging	Het
Vmn2r77	T	C	7: 86,811,689	V741A	probably benign	Het
Vps13c	T	C	9: 67,920,947	V1461A	possibly damaging	Het
Ylpm1	T	A	12: 85,015,050	V575E	unknown	Het
Zbp1	T	A	2: 173,218,823		probably benign	Het
Zfp280d	C	A	9: 72,301,770		probably benign	Het
Zkscan5	A	G	5: 145,205,467	Y58C	probably damaging	Het

Other mutations in Sh3bp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Sh3bp4	APN	1	89143960	missense	probably benign
IGL01344:Sh3bp4	APN	1	89153236	missense	probably benign
IGL02025:Sh3bp4	APN	1	89145286	missense	probably benign	0.40
IGL02035:Sh3bp4	APN	1	89143690	missense	probably benign	0.00
IGL02389:Sh3bp4	APN	1	89145148	missense	probably damaging	0.99
IGL02430:Sh3bp4	APN	1	89153163	missense	probably null	0.00
IGL02546:Sh3bp4	APN	1	89143544	splice site	probably benign
IGL03327:Sh3bp4	APN	1	89144163	nonsense	probably null
I0000:Sh3bp4	UTSW	1	89137796	missense	probably benign	0.01
PIT4366001:Sh3bp4	UTSW	1	89145434	missense	probably benign
R0128:Sh3bp4	UTSW	1	89145314	missense	possibly damaging	0.54
R0130:Sh3bp4	UTSW	1	89145314	missense	possibly damaging	0.54
R1370:Sh3bp4	UTSW	1	89143772	missense	probably benign	0.43
R1500:Sh3bp4	UTSW	1	89145488	missense	probably damaging	1.00
R3407:Sh3bp4	UTSW	1	89145047	missense	possibly damaging	0.86
R3408:Sh3bp4	UTSW	1	89145047	missense	possibly damaging	0.86
R3615:Sh3bp4	UTSW	1	89137705	missense	probably damaging	0.99
R3616:Sh3bp4	UTSW	1	89137705	missense	probably damaging	0.99
R3721:Sh3bp4	UTSW	1	89145328	missense	possibly damaging	0.93
R3983:Sh3bp4	UTSW	1	89145869	missense	probably benign	0.00
R4631:Sh3bp4	UTSW	1	89144273	missense	probably damaging	1.00
R5024:Sh3bp4	UTSW	1	89145595	missense	probably damaging	1.00
R5040:Sh3bp4	UTSW	1	89144240	missense	probably damaging	1.00
R5249:Sh3bp4	UTSW	1	89137734	missense	probably damaging	1.00
R5306:Sh3bp4	UTSW	1	89144275	missense	probably damaging	0.99
R5319:Sh3bp4	UTSW	1	89145350	missense	probably benign
R5908:Sh3bp4	UTSW	1	89145883	missense	probably damaging	0.99
R6296:Sh3bp4	UTSW	1	89145489	missense	probably damaging	1.00
R6572:Sh3bp4	UTSW	1	89144921	missense	possibly damaging	0.78
R6660:Sh3bp4	UTSW	1	89153166	missense	possibly damaging	0.62
R6900:Sh3bp4	UTSW	1	89145767	missense	probably benign	0.00
R7319:Sh3bp4	UTSW	1	89153102	splice site	probably null
R7320:Sh3bp4	UTSW	1	89145494	missense	probably damaging	1.00
R7393:Sh3bp4	UTSW	1	89144448	missense	possibly damaging	0.79
R7516:Sh3bp4	UTSW	1	89145646	missense	probably damaging	1.00
R8402:Sh3bp4	UTSW	1	89145315	missense	probably benign	0.00
R8899:Sh3bp4	UTSW	1	89145575	missense	probably benign	0.45
R8915:Sh3bp4	UTSW	1	89152342	missense	probably damaging	0.99
R8953:Sh3bp4	UTSW	1	89144437	missense	probably damaging	0.97
R9137:Sh3bp4	UTSW	1	89144925	nonsense	probably null
R9718:Sh3bp4	UTSW	1	89145750	missense	probably damaging	0.99
RF016:Sh3bp4	UTSW	1	89145022	missense	probably benign
Z1176:Sh3bp4	UTSW	1	89145728	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- GTATCCAACGTTTCAGGACCG -3'
(R):5'- GTAACCCAGGGCATCAGCAAAG -3'

Sequencing Primer
(F):5'- CTTCTAAAGACAGTGGTGCGGC -3'
(R):5'- GCATCAGCAAAGGCCCG -3'

Posted On

2014-10-16