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

88998137-89082790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89073210 bp (GRCm39)

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
Abcg1	A	G	17: 31,330,253 (GRCm39)	D518G	probably benign	Het
Acaca	T	A	11: 84,184,810 (GRCm39)	D96E	probably benign	Het
Actbl2	G	A	13: 111,391,854 (GRCm39)	R63Q	probably damaging	Het
Adamts6	T	A	13: 104,449,389 (GRCm39)	H266Q	probably damaging	Het
Aff4	T	C	11: 53,263,205 (GRCm39)	V75A	probably benign	Het
Ank2	A	G	3: 126,726,631 (GRCm39)	S888P	probably benign	Het
Ano7	T	C	1: 93,325,050 (GRCm39)	F534S	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Bcam	T	A	7: 19,492,889 (GRCm39)	D484V	possibly damaging	Het
Bltp2	C	A	11: 78,174,958 (GRCm39)	Q1698K	possibly damaging	Het
Ccdc88a	T	C	11: 29,432,713 (GRCm39)	Y1240H	probably benign	Het
Cfh	T	C	1: 140,028,614 (GRCm39)	Y500C	probably damaging	Het
Chd1l	G	A	3: 97,490,121 (GRCm39)	A478V	probably benign	Het
Dnah1	T	C	14: 31,038,715 (GRCm39)	D122G	probably benign	Het
Dnah11	A	T	12: 117,976,564 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,991,879 (GRCm39)	K1230E	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
E330020D12Rik	A	T	1: 153,284,125 (GRCm39)		noncoding transcript	Het
Ece2	T	C	16: 20,462,992 (GRCm39)	L639P	probably damaging	Het
Epha3	A	T	16: 63,416,025 (GRCm39)	V658E	probably benign	Het
Erbb2	C	T	11: 98,319,804 (GRCm39)	T632I	probably damaging	Het
Erc2	A	G	14: 27,993,617 (GRCm39)	T883A	probably damaging	Het
Extl2	T	C	3: 115,820,789 (GRCm39)	V198A	probably benign	Het
Fktn	G	T	4: 53,735,065 (GRCm39)	M234I	probably benign	Het
Ggt7	A	G	2: 155,340,966 (GRCm39)	S400P	probably benign	Het
Gldc	A	C	19: 30,091,225 (GRCm39)	V790G	possibly damaging	Het
Gm14496	A	C	2: 181,633,026 (GRCm39)	Q3P	probably benign	Het
H2-D1	G	A	17: 35,482,564 (GRCm39)	E95K	probably benign	Het
Ikzf3	T	C	11: 98,409,521 (GRCm39)	E14G	probably benign	Het
Jag1	A	T	2: 136,957,558 (GRCm39)	N51K	possibly damaging	Het
Khdrbs3	A	G	15: 68,800,635 (GRCm39)	D14G	possibly damaging	Het
Krt84	A	G	15: 101,438,659 (GRCm39)	V276A	probably damaging	Het
Lamb1	T	C	12: 31,348,948 (GRCm39)	I660T	possibly damaging	Het
Lcmt2	A	T	2: 120,970,488 (GRCm39)	S198R	probably benign	Het
Lcn6	G	A	2: 25,567,131 (GRCm39)	R44H	probably benign	Het
Lrfn5	A	T	12: 61,886,527 (GRCm39)	H105L	probably damaging	Het
Lrit1	G	A	14: 36,784,091 (GRCm39)	R473K	probably benign	Het
Marchf1	A	G	8: 66,921,042 (GRCm39)	T495A	probably damaging	Het
Marveld3	T	G	8: 110,675,174 (GRCm39)		probably null	Het
Mbd3	T	C	10: 80,230,420 (GRCm39)	D160G	possibly damaging	Het
Mrc2	T	G	11: 105,238,551 (GRCm39)	C1233G	probably damaging	Het
Ms4a13	T	G	19: 11,161,225 (GRCm39)	T105P	probably damaging	Het
Mtbp	T	C	15: 55,480,951 (GRCm39)	Y306H	probably damaging	Het
Muc3a	T	C	5: 137,244,958 (GRCm39)		probably benign	Het
Myo1g	T	A	11: 6,470,811 (GRCm39)	Y15F	probably benign	Het
Nae1	A	T	8: 105,250,216 (GRCm39)	Y226N	probably benign	Het
Nlrp9a	A	G	7: 26,267,316 (GRCm39)	S715G	probably benign	Het
Or1j10	A	T	2: 36,267,633 (GRCm39)	M282L	probably benign	Het
Or2ag17	T	C	7: 106,390,028 (GRCm39)	Y60C	probably damaging	Het
Or4s2b	T	A	2: 88,508,219 (GRCm39)	S7T	possibly damaging	Het
Or7g26	A	T	9: 19,230,612 (GRCm39)	S267C	probably damaging	Het
Or8g55	G	T	9: 39,784,707 (GRCm39)	M45I	probably benign	Het
Pex5l	T	C	3: 33,069,129 (GRCm39)	T123A	probably damaging	Het
Pip5kl1	A	T	2: 32,466,691 (GRCm39)	N62I	probably benign	Het
Pkhd1l1	T	C	15: 44,408,890 (GRCm39)	V2459A	probably damaging	Het
Prb1a	T	A	6: 132,184,439 (GRCm39)	Q398L	unknown	Het
Prkab2	T	C	3: 97,571,263 (GRCm39)	L165S	probably damaging	Het
Prl3d2	C	G	13: 27,305,689 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,143,472 (GRCm39)	G435D	probably benign	Het
Qrfpr	A	G	3: 36,236,729 (GRCm39)	L224P	probably damaging	Het
Rasl2-9	C	T	7: 5,128,441 (GRCm39)	W163*	probably null	Het
Rgs5	A	G	1: 169,517,983 (GRCm39)		probably null	Het
Rnf19b	T	C	4: 128,972,754 (GRCm39)	L255P	probably damaging	Het
Rp9	A	C	9: 22,368,751 (GRCm39)	N69K	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Spp2	C	A	1: 88,340,015 (GRCm39)	Q5K	possibly damaging	Het
Svep1	C	T	4: 58,070,239 (GRCm39)	G2516R	probably damaging	Het
Syncrip	A	C	9: 88,361,949 (GRCm39)	S55R	probably damaging	Het
Tacc3	T	C	5: 33,818,652 (GRCm39)	L29P	probably damaging	Het
Tex15	A	G	8: 34,065,120 (GRCm39)	T1517A	probably damaging	Het
Tmem140	A	G	6: 34,849,660 (GRCm39)	M59V	probably benign	Het
Ttn	G	T	2: 76,575,872 (GRCm39)	A25007E	probably damaging	Het
Ubr2	T	C	17: 47,297,615 (GRCm39)	T253A	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Usp38	A	G	8: 81,722,399 (GRCm39)	L374P	probably damaging	Het
Vmn1r42	T	A	6: 89,822,483 (GRCm39)	I29L	probably benign	Het
Vmn2r94	C	T	17: 18,477,242 (GRCm39)	V390M	probably benign	Het
Vmp1	A	G	11: 86,552,026 (GRCm39)	Y113H	possibly damaging	Het
Wdr20	T	C	12: 110,760,464 (GRCm39)	M450T	probably benign	Het
Ylpm1	T	C	12: 85,061,770 (GRCm39)	V557A	unknown	Het
Zpld1	T	C	16: 55,053,935 (GRCm39)	N286D	probably 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
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
R7320:Sh3bp4	UTSW	1	89,073,216 (GRCm39)	missense	probably damaging	1.00
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'- AGGATGATCAGGACACGATCCTCAC -3'
(R):5'- TCTCCATGAGTAAGGTCCGCACAG -3'

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

Posted On

2014-04-13