Mutagenetix > Incidental Mutation

Incidental Mutation 'R8915:Sh3bp4'

678863

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp4

Ensembl Gene

ENSMUSG00000036206

Gene Name

SH3-domain binding protein 4

Synonyms

BOG25

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89070415-89155068 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89152342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 873 (A873D)

Ref Sequence

ENSEMBL: ENSMUSP00000067581 (fasta)

Gene Model

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

AlphaFold

Q921I6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066279
AA Change: A873D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: A873D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (48/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	T	A	7: 44,254,327	H217L	possibly damaging	Het
Adgrv1	C	T	13: 81,567,439	V877I	probably damaging	Het
Aste1	G	A	9: 105,396,681	C40Y	probably benign	Het
Asxl3	T	A	18: 22,524,706	D1924E	probably benign	Het
Bmp4	T	A	14: 46,384,445	E214V	probably damaging	Het
Carmil1	A	G	13: 24,141,726	L207P	probably damaging	Het
Cdh24	T	C	14: 54,639,155	D71G	probably damaging	Het
Cdhr2	G	T	13: 54,726,371	W752L	probably benign	Het
Clec1b	T	C	6: 129,405,249	*230Q	probably null	Het
Ctbs	T	C	3: 146,463,969	V327A	probably benign	Het
Cyp2c40	A	T	19: 39,807,547	I129N	probably benign	Het
Dnajc10	T	A	2: 80,317,457	L21H	possibly damaging	Het
Dysf	A	G	6: 84,179,754	D1487G	probably benign	Het
Epb42	T	C	2: 121,019,506	Q674R	possibly damaging	Het
Fam26e	T	C	10: 34,092,419	S213G	probably benign	Het
Foxb2	T	C	19: 16,873,594	Y16C	unknown	Het
Fto	T	C	8: 91,409,843		probably null	Het
Gcfc2	A	G	6: 81,941,366	K346E	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gpam	A	G	19: 55,088,880	S160P	probably benign	Het
Has2	C	T	15: 56,668,489	V277I	probably damaging	Het
Herc1	T	C	9: 66,411,174	Y1243H	probably damaging	Het
Hhat	C	T	1: 192,594,895	E419K	probably benign	Het
Hsd17b11	T	C	5: 103,992,936		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Lactbl1	G	T	4: 136,632,932	A141S	probably benign	Het
Ncoa5	T	C	2: 165,013,007	D65G	possibly damaging	Het
Nfkbie	A	G	17: 45,560,141	I240V	probably benign	Het
Nim1k	T	A	13: 119,712,338	D340V	probably benign	Het
Oas2	T	C	5: 120,738,384	K498R	possibly damaging	Het
Olfr589	C	T	7: 103,155,204	C181Y	probably damaging	Het
Pard6g	T	C	18: 80,117,742	S357P	probably damaging	Het
Pigk	G	A	3: 152,766,461	E384K	probably benign	Het
Ppp4r1	T	C	17: 65,829,381	V528A	probably damaging	Het
Rbm34	A	G	8: 126,953,158		probably benign	Het
Rnd1	A	G	15: 98,677,300	V17A	probably damaging	Het
Ros1	C	T	10: 52,101,709		probably benign	Het
Samd14	A	C	11: 95,021,201	D168A	probably damaging	Het
Scin	T	C	12: 40,073,433	S484G	probably damaging	Het
Scn11a	C	T	9: 119,774,297	W1101*	probably null	Het
Scrn3	T	A	2: 73,318,292	V69D	probably damaging	Het
Serpina3j	A	G	12: 104,315,050	T161A	probably benign	Het
Tmem131	A	T	1: 36,829,577	I389N	probably damaging	Het
Tpp2	T	C	1: 43,977,255	L690P	probably damaging	Het
Trip13	T	C	13: 73,932,966	T94A	probably benign	Het
Vmn1r114	A	T	7: 20,811,246	L314*	probably null	Het
Vmn2r44	A	G	7: 8,367,651	Y799H	probably damaging	Het
Zfp574	T	C	7: 25,081,344	L597P	probably damaging	Het
Zfp944	A	T	17: 22,339,526	C247S	probably benign	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
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
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'- CATCTACAGGTTGACCGTCC -3'
(R):5'- GGGTATACTTTGTATTGGGCAACC -3'

Sequencing Primer
(F):5'- AGGTTGACCGTCCCCTGAAG -3'
(R):5'- GGCAACCTCACTTCACCTCAG -3'

Posted On

2021-08-02