Mutagenetix > Incidental Mutation

Incidental Mutation 'R1500:Sh3bp4'

169147

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp4

Ensembl Gene

ENSMUSG00000036206

Gene Name

SH3-domain binding protein 4

Synonyms

BOG25

MMRRC Submission

039551-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1500 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

89070415-89155068 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89145488 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 686 (S686I)

Ref Sequence

ENSEMBL: ENSMUSP00000067581 (fasta)

Gene Model

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

AlphaFold

Q921I6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066279
AA Change: S686I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: S686I

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

0.8659

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

95% (81/85)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	C	A	11: 78,284,132	Q1698K	possibly damaging	Het
A230050P20Rik	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,873,717		probably benign	Het
Abcg1	A	G	17: 31,111,279	D518G	probably benign	Het
Acaca	T	A	11: 84,293,984	D96E	probably benign	Het
Actbl2	G	A	13: 111,255,320	R63Q	probably damaging	Het
Adamts6	T	A	13: 104,312,881	H266Q	probably damaging	Het
Aff4	T	C	11: 53,372,378	V75A	probably benign	Het
Ank2	A	G	3: 126,932,982	S888P	probably benign	Het
Ano7	T	C	1: 93,397,328	F534S	probably damaging	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Bcam	T	A	7: 19,758,964	D484V	possibly damaging	Het
Ccdc88a	T	C	11: 29,482,713	Y1240H	probably benign	Het
Cfh	T	C	1: 140,100,876	Y500C	probably damaging	Het
Chd1l	G	A	3: 97,582,805	A478V	probably benign	Het
Dnah1	T	C	14: 31,316,758	D122G	probably benign	Het
Dnah11	A	T	12: 118,012,829		probably null	Het
Dnah17	T	C	11: 118,101,053	K1230E	probably benign	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
E330020D12Rik	A	T	1: 153,408,379		noncoding transcript	Het
Ece2	T	C	16: 20,644,242	L639P	probably damaging	Het
Epha3	A	T	16: 63,595,662	V658E	probably benign	Het
Erbb2	C	T	11: 98,428,978	T632I	probably damaging	Het
Erc2	A	G	14: 28,271,660	T883A	probably damaging	Het
Extl2	T	C	3: 116,027,140	V198A	probably benign	Het
Fktn	G	T	4: 53,735,065	M234I	probably benign	Het
Ggt7	A	G	2: 155,499,046	S400P	probably benign	Het
Gldc	A	C	19: 30,113,825	V790G	possibly damaging	Het
Gm14496	A	C	2: 181,991,233	Q3P	probably benign	Het
H2-D1	G	A	17: 35,263,588	E95K	probably benign	Het
Ikzf3	T	C	11: 98,518,695	E14G	probably benign	Het
Jag1	A	T	2: 137,115,638	N51K	possibly damaging	Het
Khdrbs3	A	G	15: 68,928,786	D14G	possibly damaging	Het
Krt84	A	G	15: 101,530,224	V276A	probably damaging	Het
Lamb1	T	C	12: 31,298,949	I660T	possibly damaging	Het
Lcmt2	A	T	2: 121,140,007	S198R	probably benign	Het
Lcn6	G	A	2: 25,677,119	R44H	probably benign	Het
Lrfn5	A	T	12: 61,839,741	H105L	probably damaging	Het
Lrit1	G	A	14: 37,062,134	R473K	probably benign	Het
March1	A	G	8: 66,468,390	T495A	probably damaging	Het
Marveld3	T	G	8: 109,948,542		probably null	Het
Mbd3	T	C	10: 80,394,586	D160G	possibly damaging	Het
Mrc2	T	G	11: 105,347,725	C1233G	probably damaging	Het
Ms4a13	T	G	19: 11,183,861	T105P	probably damaging	Het
Mtbp	T	C	15: 55,617,555	Y306H	probably damaging	Het
Muc3a	T	C	5: 137,210,501		probably benign	Het
Myo1g	T	A	11: 6,520,811	Y15F	probably benign	Het
Nae1	A	T	8: 104,523,584	Y226N	probably benign	Het
Nlrp9a	A	G	7: 26,567,891	S715G	probably benign	Het
Olfr1193	T	A	2: 88,677,875	S7T	possibly damaging	Het
Olfr338	A	T	2: 36,377,621	M282L	probably benign	Het
Olfr699	T	C	7: 106,790,821	Y60C	probably damaging	Het
Olfr844	A	T	9: 19,319,316	S267C	probably damaging	Het
Olfr972	G	T	9: 39,873,411	M45I	probably benign	Het
Pex5l	T	C	3: 33,014,980	T123A	probably damaging	Het
Pip5kl1	A	T	2: 32,576,679	N62I	probably benign	Het
Pkhd1l1	T	C	15: 44,545,494	V2459A	probably damaging	Het
Prb1	T	A	6: 132,207,476	Q398L	unknown	Het
Prkab2	T	C	3: 97,663,947	L165S	probably damaging	Het
Prl3d2	C	G	13: 27,121,706		probably benign	Het
Ptdss1	G	A	13: 66,995,408	G435D	probably benign	Het
Qrfpr	A	G	3: 36,182,580	L224P	probably damaging	Het
Rasl2-9	C	T	7: 5,125,442	W163*	probably null	Het
Rgs5	A	G	1: 169,690,414		probably null	Het
Rnf19b	T	C	4: 129,078,961	L255P	probably damaging	Het
Rp9	A	C	9: 22,457,455	N69K	probably damaging	Het
Spp2	C	A	1: 88,412,293	Q5K	possibly damaging	Het
Svep1	C	T	4: 58,070,239	G2516R	probably damaging	Het
Syncrip	A	C	9: 88,479,896	S55R	probably damaging	Het
Tacc3	T	C	5: 33,661,308	L29P	probably damaging	Het
Tex15	A	G	8: 33,575,092	T1517A	probably damaging	Het
Tmem140	A	G	6: 34,872,725	M59V	probably benign	Het
Ttn	G	T	2: 76,745,528	A25007E	probably damaging	Het
Ubr2	T	C	17: 46,986,689	T253A	possibly damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Usp38	A	G	8: 80,995,770	L374P	probably damaging	Het
Vmn1r42	T	A	6: 89,845,501	I29L	probably benign	Het
Vmn2r94	C	T	17: 18,256,980	V390M	probably benign	Het
Vmp1	A	G	11: 86,661,200	Y113H	possibly damaging	Het
Wdr20	T	C	12: 110,794,030	M450T	probably benign	Het
Ylpm1	T	C	12: 85,014,996	V557A	unknown	Het
Zpld1	T	C	16: 55,233,572	N286D	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
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
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'- AGGATGATCAGGACACGATCCTCAC -3'
(R):5'- TCTCCATGAGTAAGGTCCGCACAG -3'

Sequencing Primer
(F):5'- ACGCAGTTTTGTGTCCAGAC -3'
(R):5'- TCCGCACAGAGGCATAGATG -3'

Posted On

2014-04-13