Mutagenetix > Incidental Mutation

Incidental Mutation 'R7319:Sh3bp4'

586048

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 #

R7319 (G1)

Quality Score

156.008

Status

Validated

Chromosome

Chromosomal Location

89070415-89155068 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 89153102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067581 (fasta)

Gene Model

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

AlphaFold

Q921I6

Predicted Effect

probably null
Transcript: ENSMUST00000066279

SMART Domains

Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (79/82)

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
5830473C10Rik	G	A	5: 90,571,766		probably null	Het
9930012K11Rik	A	T	14: 70,156,186	I287N	probably benign	Het
Aco2	G	T	15: 81,903,619	E223D	probably damaging	Het
Acsf3	T	A	8: 122,813,031	I466N	probably damaging	Het
Aox3	T	A	1: 58,152,602	F438I	probably benign	Het
Arhgap33	T	C	7: 30,526,369	T591A	probably benign	Het
Ash1l	C	T	3: 88,981,387	A191V	probably benign	Het
Btg2	T	C	1: 134,079,041	K5E	probably benign	Het
C1galt1	T	A	6: 7,871,150	Y329N	probably damaging	Het
C87499	G	A	4: 88,629,947	P74S	probably benign	Het
Cacna1h	A	G	17: 25,389,461	I824T	possibly damaging	Het
Carmil3	A	G	14: 55,494,360	I182V	probably benign	Het
Ccdc150	T	A	1: 54,263,337		probably null	Het
Chek1	T	A	9: 36,722,643	R129W	probably damaging	Het
Chrna6	A	G	8: 27,406,787	M354T	possibly damaging	Het
Cpq	A	G	15: 33,250,039	T181A	probably benign	Het
Csmd2	A	T	4: 128,393,679	Y1069F		Het
Defb28	T	A	2: 152,520,054	C45S	possibly damaging	Het
Dnah1	A	G	14: 31,296,594	Y1360H	probably benign	Het
Dnah7c	T	A	1: 46,780,775	D3728E	probably benign	Het
Dnah7c	T	C	1: 46,784,448	V3749A	possibly damaging	Het
Dym	G	A	18: 75,063,174		probably null	Het
Dzip3	A	G	16: 48,927,540		probably null	Het
Eef1akmt4	A	G	16: 20,617,916	K163E	probably benign	Het
Fbrs	A	G	7: 127,482,813	T242A	possibly damaging	Het
Fgfr3	G	A	5: 33,727,802	V87M	possibly damaging	Het
Fst	A	T	13: 114,458,532	C19S	probably benign	Het
Gm7276	G	A	18: 77,185,520	R173W	unknown	Het
Gm9195	G	A	14: 72,460,489	H1284Y	probably benign	Het
Gm9573	GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG	GGGGTGGG	17: 35,622,043		probably benign	Het
Herc6	C	A	6: 57,604,089	T258K	probably damaging	Het
Hip1r	A	G	5: 123,999,111	Y678C	probably damaging	Het
Ifne	A	T	4: 88,880,006	N58K	probably damaging	Het
Ighv1-26	A	T	12: 114,788,543	H60Q	possibly damaging	Het
Ints1	A	G	5: 139,760,765	F1276L	probably damaging	Het
Kcnc4	T	A	3: 107,458,784	E36V	probably benign	Het
Kcnq2	C	T	2: 181,109,102	G315S	probably damaging	Het
Kdm4c	G	A	4: 74,336,963	V585M	probably damaging	Het
Klhl26	C	T	8: 70,452,942	R106H	probably damaging	Het
Kmo	T	C	1: 175,653,655	F313S	probably damaging	Het
Lmtk3	T	A	7: 45,794,316	S808T	unknown	Het
Lrch3	A	G	16: 32,994,993	T585A	probably benign	Het
Lrch4	T	A	5: 137,639,715	H86Q		Het
Map3k20	A	G	2: 72,364,718	D113G	probably damaging	Het
Mbd3l1	T	C	9: 18,485,121	S181P	probably benign	Het
Mccc2	T	C	13: 99,967,733	T303A	probably benign	Het
Med27	A	G	2: 29,413,478	R147G	possibly damaging	Het
Mrps5	T	A	2: 127,595,842	S196R	possibly damaging	Het
Myo16	A	T	8: 10,476,185		probably null	Het
Nudt2	A	T	4: 41,477,575	M19L	probably benign	Het
Pcdha11	C	T	18: 37,013,192	P779S	probably benign	Het
Phykpl	A	G	11: 51,598,703	T379A	probably benign	Het
Plekha8	A	C	6: 54,624,221	M270L	probably benign	Het
Plekhg5	A	G	4: 152,108,428	H593R	probably benign	Het
Polr2a	T	C	11: 69,746,370	N293S	possibly damaging	Het
Prex2	T	A	1: 11,162,308	N866K	probably benign	Het
Psme4	A	T	11: 30,807,790	I308L	probably benign	Het
Ptprb	T	C	10: 116,341,404	V1003A	probably benign	Het
Rbbp8	T	A	18: 11,732,212	D719E	probably damaging	Het
Rnaset2b	A	T	17: 6,991,767	D144V	probably benign	Het
Senp6	T	G	9: 80,126,199	D662E	probably damaging	Het
Serpinb3c	T	C	1: 107,273,087	N200S	possibly damaging	Het
Serpinb9g	C	G	13: 33,488,560	Y113*	probably null	Het
Sgf29	T	C	7: 126,671,649	I134T	probably benign	Het
Ssfa2	A	T	2: 79,636,072	D82V	probably damaging	Het
Stab1	G	A	14: 31,140,826	L2243F	probably damaging	Het
Sympk	T	C	7: 19,035,845	V149A	probably benign	Het
Syt3	C	T	7: 44,392,529	Q271*	probably null	Het
Tas2r109	A	G	6: 132,980,700	I89T	probably benign	Het
Tgif1	A	G	17: 70,844,852	S255P	probably damaging	Het
Tm9sf1	G	A	14: 55,637,975		probably benign	Het
Tnf	A	G	17: 35,200,371	F161S	possibly damaging	Het
Topaz1	T	A	9: 122,750,363	S779R	possibly damaging	Het
Topors	A	G	4: 40,260,540	S915P	unknown	Het
Tpm4	C	T	8: 72,146,477	L161F	probably damaging	Het
Trim38	C	T	13: 23,791,401	T441I	probably damaging	Het
Trpv1	A	G	11: 73,250,794	M548V	probably benign	Het
Vmn2r68	T	A	7: 85,233,834	T237S	probably benign	Het
Wdr34	G	A	2: 30,038,329	P95L	probably benign	Het
Zc3hav1	A	G	6: 38,332,274	S538P	probably benign	Het
Zfp541	C	T	7: 16,079,369	T649I	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
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'- ATGGGCAGTTTCTGATACACGG -3'
(R):5'- AGGATCAGTGTCCCTGTGAG -3'

Sequencing Primer
(F):5'- CAGTTTCTGATACACGGCACGG -3'
(R):5'- TCCCTGTGAGGTGCTTCCAG -3'

Posted On

2019-10-23