Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:Sh3bp4'

568105

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp4

Ensembl Gene

ENSMUSG00000036206

Gene Name

SH3-domain binding protein 4

Synonyms

BOG25

MMRRC Submission

045370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88998137-89082790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89073216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 688 (E688G)

Ref Sequence

ENSEMBL: ENSMUSP00000067581 (fasta)

Gene Model

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

AlphaFold

Q921I6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066279
AA Change: E688G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: E688G

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: 99.6%
20x: 98.8%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,471 (GRCm39)	I458T	probably benign	Het
Adam29	A	G	8: 56,325,749 (GRCm39)	I235T	possibly damaging	Het
Afap1	G	A	5: 36,105,567 (GRCm39)	V174I	probably damaging	Het
Ak8	A	T	2: 28,703,004 (GRCm39)	D456V	probably damaging	Het
Alb	T	C	5: 90,612,846 (GRCm39)		probably null	Het
Alox12	C	T	11: 70,145,298 (GRCm39)	A92T	probably benign	Het
Arhgap23	T	C	11: 97,342,371 (GRCm39)	S218P	probably benign	Het
Blm	G	A	7: 80,105,102 (GRCm39)	Q1389*	probably null	Het
C1ql4	A	T	15: 98,985,605 (GRCm39)	V2E	unknown	Het
Casp12	A	G	9: 5,348,897 (GRCm39)		probably null	Het
Ccdc73	A	T	2: 104,829,521 (GRCm39)	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 89,873,242 (GRCm39)	G371D	probably damaging	Het
Cfap65	A	G	1: 74,965,763 (GRCm39)	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,012 (GRCm39)	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,294,827 (GRCm39)	H311Q	probably benign	Het
Cldn13	T	G	5: 134,943,874 (GRCm39)	I104L	probably benign	Het
Cul9	A	G	17: 46,821,835 (GRCm39)	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,416,105 (GRCm39)	D407E	probably damaging	Het
Ddx28	G	A	8: 106,737,957 (GRCm39)	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,616 (GRCm39)	N973Y	probably null	Het
Dnai4	A	T	4: 102,907,384 (GRCm39)	I634N	possibly damaging	Het
Dock10	A	G	1: 80,527,421 (GRCm39)		probably null	Het
Dock3	T	C	9: 106,772,723 (GRCm39)	D510G	probably benign	Het
Dst	T	A	1: 34,230,175 (GRCm39)	D2589E	probably benign	Het
E2f7	T	C	10: 110,599,991 (GRCm39)	Y249H	not run	Het
Eef2kmt	T	C	16: 5,068,373 (GRCm39)	Y69C	possibly damaging	Het
Elapor1	T	A	3: 108,371,619 (GRCm39)	K650*	probably null	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exog	G	T	9: 119,291,544 (GRCm39)	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,371,896 (GRCm39)	V98M	probably benign	Het
Fras1	C	T	5: 96,857,745 (GRCm39)	T2013I	probably benign	Het
Gart	G	T	16: 91,418,569 (GRCm39)	A970E	probably benign	Het
Gga2	T	A	7: 121,601,326 (GRCm39)	H259L	probably benign	Het
Glis3	C	A	19: 28,508,998 (GRCm39)	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923 (GRCm38)	N53I	probably damaging	Het
Golgb1	C	A	16: 36,736,313 (GRCm39)	C1894*	probably null	Het
Ifi203	T	C	1: 173,756,733 (GRCm39)	N350S	unknown	Het
Isy1	T	A	6: 87,810,688 (GRCm39)	R55S	unknown	Het
Itsn1	A	T	16: 91,636,587 (GRCm39)	D678V	unknown	Het
Lhcgr	T	A	17: 89,049,506 (GRCm39)	R673S	probably benign	Het
Lnx2	C	A	5: 146,956,943 (GRCm39)	R601L	possibly damaging	Het
Map4	A	G	9: 109,910,585 (GRCm39)	T1093A	probably benign	Het
Minar1	A	G	9: 89,483,679 (GRCm39)	S573P	probably benign	Het
Mink1	A	G	11: 70,489,899 (GRCm39)	K92E	probably benign	Het
Moxd1	A	G	10: 24,177,363 (GRCm39)	I560V	probably benign	Het
Mrc2	C	A	11: 105,220,061 (GRCm39)	D327E	possibly damaging	Het
Notch2	A	G	3: 98,038,643 (GRCm39)	E1262G	possibly damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or4k48	A	G	2: 111,476,297 (GRCm39)	L15S	probably benign	Het
Or52d3	C	A	7: 104,229,645 (GRCm39)	S264*	probably null	Het
Or5an1	G	A	19: 12,261,180 (GRCm39)	G256D	possibly damaging	Het
Or5b120	T	A	19: 13,480,544 (GRCm39)	M279K	possibly damaging	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or5m13	A	T	2: 85,748,718 (GRCm39)	I150F	probably benign	Het
Or6c5b	A	T	10: 129,245,654 (GRCm39)	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,381,782 (GRCm39)	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,522,953 (GRCm39)	Y104F	probably benign	Het
Plscr2	T	C	9: 92,173,193 (GRCm39)		probably null	Het
Ppfibp1	C	T	6: 146,879,551 (GRCm39)	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,541,034 (GRCm39)	G158D	probably benign	Het
Ptgs2	T	C	1: 149,978,446 (GRCm39)	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,564,956 (GRCm39)	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,368,673 (GRCm39)	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,085,122 (GRCm39)		probably null	Het
Sema3b	T	A	9: 107,478,141 (GRCm39)	M415L	probably benign	Het
Slco6c1	G	A	1: 97,055,887 (GRCm39)	R5C	possibly damaging	Het
Slmap	A	G	14: 26,181,227 (GRCm39)	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,361,894 (GRCm39)	N181S	possibly damaging	Het
Sqor	A	G	2: 122,641,730 (GRCm39)	T235A	probably benign	Het
St13	A	G	15: 81,273,854 (GRCm39)	L80P	probably damaging	Het
St3gal6	A	G	16: 58,314,074 (GRCm39)	Y20H	probably benign	Het
Sun1	T	G	5: 139,234,239 (GRCm39)	Y899D	probably damaging	Het
Synm	C	T	7: 67,385,128 (GRCm39)	E845K	possibly damaging	Het
Tg	A	T	15: 66,566,633 (GRCm39)	D1227V	possibly damaging	Het
Thbs1	A	G	2: 117,945,438 (GRCm39)	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,414,357 (GRCm39)	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,265,505 (GRCm39)	D856G	probably benign	Het
Vil1	G	A	1: 74,457,603 (GRCm39)	A79T	probably damaging	Het
Vmn1r119	T	A	7: 20,746,271 (GRCm39)	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,816,316 (GRCm39)	M69K	probably benign	Het
Ywhaq	A	G	12: 21,444,982 (GRCm39)	L221P	probably damaging	Het
Zfp142	G	A	1: 74,609,167 (GRCm39)	Q1543*	probably null	Het
Zfp384	T	A	6: 125,001,793 (GRCm39)	M146K	possibly damaging	Het

Other mutations in Sh3bp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Sh3bp4	APN	1	89,071,682 (GRCm39)	missense	probably benign
IGL01344:Sh3bp4	APN	1	89,080,958 (GRCm39)	missense	probably benign
IGL02025:Sh3bp4	APN	1	89,073,008 (GRCm39)	missense	probably benign	0.40
IGL02035:Sh3bp4	APN	1	89,071,412 (GRCm39)	missense	probably benign	0.00
IGL02389:Sh3bp4	APN	1	89,072,870 (GRCm39)	missense	probably damaging	0.99
IGL02430:Sh3bp4	APN	1	89,080,885 (GRCm39)	missense	probably null	0.00
IGL02546:Sh3bp4	APN	1	89,071,266 (GRCm39)	splice site	probably benign
IGL03327:Sh3bp4	APN	1	89,071,885 (GRCm39)	nonsense	probably null
I0000:Sh3bp4	UTSW	1	89,065,518 (GRCm39)	missense	probably benign	0.01
PIT4366001:Sh3bp4	UTSW	1	89,073,156 (GRCm39)	missense	probably benign
R0128:Sh3bp4	UTSW	1	89,073,036 (GRCm39)	missense	possibly damaging	0.54
R0130:Sh3bp4	UTSW	1	89,073,036 (GRCm39)	missense	possibly damaging	0.54
R1370:Sh3bp4	UTSW	1	89,071,494 (GRCm39)	missense	probably benign	0.43
R1500:Sh3bp4	UTSW	1	89,073,210 (GRCm39)	missense	probably damaging	1.00
R2269:Sh3bp4	UTSW	1	89,073,314 (GRCm39)	missense	possibly damaging	0.62
R3407:Sh3bp4	UTSW	1	89,072,769 (GRCm39)	missense	possibly damaging	0.86
R3408:Sh3bp4	UTSW	1	89,072,769 (GRCm39)	missense	possibly damaging	0.86
R3615:Sh3bp4	UTSW	1	89,065,427 (GRCm39)	missense	probably damaging	0.99
R3616:Sh3bp4	UTSW	1	89,065,427 (GRCm39)	missense	probably damaging	0.99
R3721:Sh3bp4	UTSW	1	89,073,050 (GRCm39)	missense	possibly damaging	0.93
R3983:Sh3bp4	UTSW	1	89,073,591 (GRCm39)	missense	probably benign	0.00
R4631:Sh3bp4	UTSW	1	89,071,995 (GRCm39)	missense	probably damaging	1.00
R5024:Sh3bp4	UTSW	1	89,073,317 (GRCm39)	missense	probably damaging	1.00
R5040:Sh3bp4	UTSW	1	89,071,962 (GRCm39)	missense	probably damaging	1.00
R5249:Sh3bp4	UTSW	1	89,065,456 (GRCm39)	missense	probably damaging	1.00
R5306:Sh3bp4	UTSW	1	89,071,997 (GRCm39)	missense	probably damaging	0.99
R5319:Sh3bp4	UTSW	1	89,073,072 (GRCm39)	missense	probably benign
R5908:Sh3bp4	UTSW	1	89,073,605 (GRCm39)	missense	probably damaging	0.99
R6296:Sh3bp4	UTSW	1	89,073,211 (GRCm39)	missense	probably damaging	1.00
R6572:Sh3bp4	UTSW	1	89,072,643 (GRCm39)	missense	possibly damaging	0.78
R6660:Sh3bp4	UTSW	1	89,080,888 (GRCm39)	missense	possibly damaging	0.62
R6900:Sh3bp4	UTSW	1	89,073,489 (GRCm39)	missense	probably benign	0.00
R7319:Sh3bp4	UTSW	1	89,080,824 (GRCm39)	splice site	probably null
R7393:Sh3bp4	UTSW	1	89,072,170 (GRCm39)	missense	possibly damaging	0.79
R7516:Sh3bp4	UTSW	1	89,073,368 (GRCm39)	missense	probably damaging	1.00
R8402:Sh3bp4	UTSW	1	89,073,037 (GRCm39)	missense	probably benign	0.00
R8899:Sh3bp4	UTSW	1	89,073,297 (GRCm39)	missense	probably benign	0.45
R8915:Sh3bp4	UTSW	1	89,080,064 (GRCm39)	missense	probably damaging	0.99
R8953:Sh3bp4	UTSW	1	89,072,159 (GRCm39)	missense	probably damaging	0.97
R9137:Sh3bp4	UTSW	1	89,072,647 (GRCm39)	nonsense	probably null
R9718:Sh3bp4	UTSW	1	89,073,472 (GRCm39)	missense	probably damaging	0.99
RF016:Sh3bp4	UTSW	1	89,072,744 (GRCm39)	missense	probably benign
Z1176:Sh3bp4	UTSW	1	89,073,450 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- AGGTCGGGAAGATCATCTTGTC -3'
(R):5'- CATGAGTAAGGTCCGCACAG -3'

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

Posted On

2019-06-26