Mutagenetix > Incidental Mutation

Incidental Mutation 'R5908:Sh3bp4'

460758

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp4

Ensembl Gene

ENSMUSG00000036206

Gene Name

SH3-domain binding protein 4

Synonyms

BOG25

MMRRC Submission

044105-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5908 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89070415-89155068 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 89145883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 818 (S818A)

Ref Sequence

ENSEMBL: ENSMUSP00000067581 (fasta)

Gene Model

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

AlphaFold

Q921I6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066279
AA Change: S818A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: S818A

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

0.1171

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.8%

Validation Efficiency

97% (69/71)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	A	T	10: 116,113,228	I131N	probably benign	Het
Abcc10	A	T	17: 46,313,804	L198H	probably damaging	Het
Anks1	C	T	17: 27,996,019	T480I	probably damaging	Het
Arhgef18	G	A	8: 3,453,165	R857Q	probably damaging	Het
B230208B08Rik	A	G	4: 78,214,060		noncoding transcript	Het
B9d2	T	A	7: 25,683,299	W33R	probably damaging	Het
Bcl2a1c	A	G	9: 114,330,504	T117A	probably benign	Het
Btbd8	T	G	5: 107,507,594	D574E	probably damaging	Het
C77080	A	G	4: 129,222,148	S908P	probably damaging	Het
Cabin1	A	G	10: 75,721,532	S1091P	probably damaging	Het
Clip3	C	A	7: 30,296,873	D64E	probably damaging	Het
Col6a5	C	G	9: 105,862,801	D2540H	possibly damaging	Het
Commd5	A	T	15: 76,900,936	M178L	probably benign	Het
Crtc3	T	A	7: 80,595,794	H361L	possibly damaging	Het
Dip2b	T	A	15: 100,151,184	L153Q	possibly damaging	Het
Eif2s1	T	A	12: 78,880,043	V189D	probably damaging	Het
Etl4	C	T	2: 20,743,907	A483V	probably damaging	Het
Foxo3	T	C	10: 42,196,587	I645V	probably benign	Het
Gm4841	A	G	18: 60,270,434	S196P	possibly damaging	Het
Hip1	A	G	5: 135,424,863		probably null	Het
Il1f5	G	T	2: 24,277,490		probably benign	Het
Ints2	A	G	11: 86,215,545		probably null	Het
Khnyn	A	G	14: 55,887,066	D259G	probably benign	Het
Lyst	T	A	13: 13,696,761	Y2694*	probably null	Het
Map4k2	T	C	19: 6,351,316		probably benign	Het
March10	C	T	11: 105,390,239	V407I	probably benign	Het
Mast4	C	A	13: 102,738,256	V1367F	probably damaging	Het
Mrgprb3	A	T	7: 48,643,618	S62T	probably damaging	Het
Mthfd1l	T	C	10: 4,089,392	F801S	probably damaging	Het
Notch2	T	C	3: 98,123,923		probably benign	Het
Nr2e1	T	C	10: 42,572,769	S158G	probably benign	Het
Nup214	A	G	2: 31,991,341	I404V	probably benign	Het
Olfr702	T	C	7: 106,824,197	T110A	probably benign	Het
Pik3c2g	G	A	6: 139,768,710	R196H		Het
Pik3r3	A	T	4: 116,272,758	D213V	probably benign	Het
Pip5k1b	A	T	19: 24,397,137	S27T	possibly damaging	Het
Pkp1	G	A	1: 135,918,883	Q44*	probably null	Het
Pnmal2	C	T	7: 16,947,043	R651C	unknown	Het
Pnpt1	T	A	11: 29,130,887	S44T	probably benign	Het
Polb	A	T	8: 22,642,303		probably null	Het
Pom121l2	A	G	13: 21,981,814	N85S	probably damaging	Het
Prim1	A	G	10: 128,018,024	K104E	probably damaging	Het
Prl8a1	T	A	13: 27,574,057	Y223F	probably benign	Het
Rbak	T	G	5: 143,173,636	H554P	probably damaging	Het
Serpina3c	T	C	12: 104,151,711	R123G	probably benign	Het
Sh3rf3	C	G	10: 59,049,448	H384Q	probably benign	Het
Slc9a8	C	T	2: 167,451,170		probably benign	Het
Sptbn4	T	C	7: 27,404,253	E1181G	probably benign	Het
Taf2	G	A	15: 55,072,006		probably benign	Het
Tbc1d9	A	T	8: 83,249,545	M578L	probably benign	Het
Tinagl1	G	T	4: 130,172,970	Y111*	probably null	Het
Tor2a	T	C	2: 32,761,685	L304P	probably damaging	Het
Trp53bp1	A	G	2: 121,236,823	V474A	probably benign	Het
Trrap	C	A	5: 144,786,708	A325E	probably damaging	Het
Ube4a	A	G	9: 44,948,024		probably null	Het
Use1	G	C	8: 71,369,613	K239N	probably damaging	Het
Vps9d1	G	T	8: 123,246,824	Q407K	probably benign	Het
Zfp36l1	A	T	12: 80,109,675	S311T	possibly damaging	Het
Zfp729b	T	C	13: 67,591,255	K964E	probably benign	Het
Zfp974	T	A	7: 27,910,957	M448L	probably benign	Het
Zfyve28	A	T	5: 34,216,870	V600E	possibly 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
R2269:Sh3bp4	UTSW	1	89145592	missense	possibly damaging	0.62
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
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'- ACACCAAGAACGTGCTGGTC -3'
(R):5'- ACCATAGAGGATCGGAACTGTAAC -3'

Sequencing Primer
(F):5'- TGCGGACCTTACTCATGGAGAAC -3'
(R):5'- CAGAAGAGAGAAGAGACACCTTTC -3'

Posted On

2017-02-28