Mutagenetix > Incidental Mutation

Incidental Mutation 'R2145:Sh3kbp1'

233790

Institutional Source

Beutler Lab

Gene Symbol

Sh3kbp1

Ensembl Gene

ENSMUSG00000040990

Gene Name

SH3-domain kinase binding protein 1

Synonyms

1200007H22Rik, 1700125L08Rik, Seta, Ruk, IN85, 5830464D22Rik

MMRRC Submission

040148-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.332) question?

Stock #

R2145 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

158409888-158758916 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 158607492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 200 (T200K)

Ref Sequence

ENSEMBL: ENSMUSP00000072840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073094] [ENSMUST00000080394] [ENSMUST00000112456] [ENSMUST00000123433] [ENSMUST00000141354]

AlphaFold

Q8R550

Predicted Effect

probably benign
Transcript: ENSMUST00000073094
AA Change: T200K

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000072840
Gene: ENSMUSG00000040990
AA Change: T200K

Domain	Start	End	E-Value	Type
SH3	2	57	2.69e-22	SMART
SH3	101	156	5.69e-21	SMART
low complexity region	221	239	N/A	INTRINSIC
SH3	314	371	1.26e-22	SMART
low complexity region	381	387	N/A	INTRINSIC
low complexity region	421	431	N/A	INTRINSIC
low complexity region	436	451	N/A	INTRINSIC
low complexity region	535	556	N/A	INTRINSIC
low complexity region	600	623	N/A	INTRINSIC
coiled coil region	647	704	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000080394

SMART Domains

Protein: ENSMUSP00000079257
Gene: ENSMUSG00000040990

Domain	Start	End	E-Value	Type
SH3	64	119	5.69e-21	SMART
low complexity region	140	158	N/A	INTRINSIC
SH3	233	290	1.26e-22	SMART
low complexity region	300	306	N/A	INTRINSIC
low complexity region	340	350	N/A	INTRINSIC
low complexity region	355	370	N/A	INTRINSIC
low complexity region	454	475	N/A	INTRINSIC
low complexity region	519	542	N/A	INTRINSIC
coiled coil region	566	623	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112456

SMART Domains

Protein: ENSMUSP00000108075
Gene: ENSMUSG00000040990

Domain	Start	End	E-Value	Type
SH3	2	57	2.69e-22	SMART
SH3	101	156	5.69e-21	SMART
low complexity region	177	195	N/A	INTRINSIC
SH3	270	327	1.26e-22	SMART
low complexity region	337	343	N/A	INTRINSIC
low complexity region	377	387	N/A	INTRINSIC
low complexity region	392	407	N/A	INTRINSIC
low complexity region	491	512	N/A	INTRINSIC
low complexity region	556	579	N/A	INTRINSIC
coiled coil region	603	660	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123433

SMART Domains

Protein: ENSMUSP00000114799
Gene: ENSMUSG00000040990

Domain	Start	End	E-Value	Type
SH3	42	97	5.69e-21	SMART
low complexity region	118	136	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141354

SMART Domains

Protein: ENSMUSP00000114262
Gene: ENSMUSG00000040990

Domain	Start	End	E-Value	Type
SH3	64	119	5.69e-21	SMART
low complexity region	140	158	N/A	INTRINSIC
SH3	233	290	1.26e-22	SMART
low complexity region	300	306	N/A	INTRINSIC
low complexity region	340	350	N/A	INTRINSIC
low complexity region	355	370	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150433

Meta Mutation Damage Score

0.0855

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (101/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adapter protein that contains three N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele have an increased lean body mass, increased dopamine in the striatum and behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,953,701 (GRCm39)	N535S	probably benign	Het
Abcc6	A	T	7: 45,648,165 (GRCm39)	L717Q	probably benign	Het
Abraxas2	C	A	7: 132,484,790 (GRCm39)	Q278K	probably benign	Het
Acap2	A	T	16: 30,924,342 (GRCm39)	D637E	probably benign	Het
AI661453	A	G	17: 47,777,023 (GRCm39)		probably benign	Het
Aoah	A	T	13: 21,024,266 (GRCm39)	E74V	probably damaging	Het
Aoc1l1	A	T	6: 48,953,629 (GRCm39)	D518V	probably damaging	Het
Appl1	A	G	14: 26,671,576 (GRCm39)	L292S	possibly damaging	Het
Astl	T	A	2: 127,189,109 (GRCm39)	V166E	probably damaging	Het
Bbs1	T	G	19: 4,953,735 (GRCm39)	K143Q	possibly damaging	Het
Bbx	T	C	16: 50,094,907 (GRCm39)		probably benign	Het
Birc6	A	T	17: 74,967,408 (GRCm39)	Q4103L	possibly damaging	Het
C1qtnf2	T	G	11: 43,381,811 (GRCm39)	F178V	probably damaging	Het
Camta2	A	G	11: 70,562,401 (GRCm39)	F999L	probably benign	Het
Cfap68	T	C	9: 50,676,174 (GRCm39)	Y32C	probably damaging	Het
Clcn7	A	G	17: 25,363,425 (GRCm39)	I34V	probably benign	Het
Cntn5	G	T	9: 9,748,420 (GRCm39)	P487Q	probably damaging	Het
Ctu2	T	A	8: 123,205,891 (GRCm39)	I213K	probably benign	Het
Des	C	A	1: 75,340,108 (GRCm39)		probably benign	Het
Dgcr8	A	T	16: 18,098,094 (GRCm39)	D432E	probably benign	Het
Dlgap5	G	A	14: 47,633,380 (GRCm39)	R549*	probably null	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dmxl2	T	C	9: 54,323,194 (GRCm39)	T1397A	probably damaging	Het
Dnmt1	T	A	9: 20,848,451 (GRCm39)		probably benign	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Dtwd1	C	A	2: 126,001,904 (GRCm39)	T208N	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Dync1i2	T	A	2: 71,044,907 (GRCm39)		probably benign	Het
Fer1l6	T	A	15: 58,499,383 (GRCm39)	M1251K	probably benign	Het
Fmod	T	C	1: 133,968,256 (GRCm39)	Y99H	probably benign	Het
Fn1	A	T	1: 71,645,163 (GRCm39)	V1552D	probably damaging	Het
Fnip2	A	T	3: 79,407,739 (GRCm39)	S281T	probably damaging	Het
Glb1	A	G	9: 114,293,233 (GRCm39)	H536R	probably benign	Het
Glis2	T	A	16: 4,431,506 (GRCm39)	S344R	possibly damaging	Het
Gm4847	A	T	1: 166,462,472 (GRCm39)	S339R	probably benign	Het
Gpr155	A	G	2: 73,187,002 (GRCm39)	S44P	probably benign	Het
Gprin1	G	A	13: 54,886,445 (GRCm39)	P610S	probably damaging	Het
Gvin3	T	A	7: 106,202,215 (GRCm39)	H343L	possibly damaging	Het
H2-Ob	A	T	17: 34,461,554 (GRCm39)	M98L	probably benign	Het
H3c6	T	C	13: 23,746,530 (GRCm39)	T4A	probably benign	Het
Hmcn2	T	C	2: 31,223,943 (GRCm39)		probably benign	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Il13	T	C	11: 53,523,351 (GRCm39)	T85A	possibly damaging	Het
Inpp5k	A	T	11: 75,538,017 (GRCm39)		probably null	Het
Irgm2	T	C	11: 58,111,355 (GRCm39)	S361P	possibly damaging	Het
Itga11	C	T	9: 62,639,486 (GRCm39)		probably benign	Het
Kalrn	G	T	16: 33,829,632 (GRCm39)		probably benign	Het
Kcng1	C	A	2: 168,110,952 (GRCm39)	G71C	probably damaging	Het
Kcnq5	T	A	1: 21,575,573 (GRCm39)	D291V	probably damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lhx6	C	T	2: 35,977,478 (GRCm39)	V325I	probably benign	Het
Lipc	A	G	9: 70,841,817 (GRCm39)	I9T	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mast1	C	A	8: 85,648,107 (GRCm39)	G458V	probably damaging	Het
Mga	T	C	2: 119,794,638 (GRCm39)	V2565A	possibly damaging	Het
Mpzl2	C	G	9: 44,955,471 (GRCm39)	D127E	probably benign	Het
Mrtfb	T	C	16: 13,230,450 (GRCm39)	I1045T	probably damaging	Het
Myh3	T	A	11: 66,981,882 (GRCm39)	C793S	probably benign	Het
Nomo1	T	C	7: 45,715,928 (GRCm39)	L765P	probably damaging	Het
Nup210	A	G	6: 91,005,858 (GRCm39)	I1335T	possibly damaging	Het
Or52b3	T	C	7: 102,204,267 (GRCm39)		probably null	Het
Oxr1	T	A	15: 41,683,340 (GRCm39)	S254R	probably damaging	Het
Pan3	A	G	5: 147,466,908 (GRCm39)	I592V	possibly damaging	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pex2	T	C	3: 5,626,650 (GRCm39)	E53G	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Phactr4	T	C	4: 132,098,095 (GRCm39)	E391G	probably damaging	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Pkhd1l1	A	T	15: 44,376,273 (GRCm39)		probably null	Het
Pnlip	A	G	19: 58,664,876 (GRCm39)	S235G	probably benign	Het
Prkd1	A	G	12: 50,536,694 (GRCm39)	V130A	possibly damaging	Het
Ptpn13	A	G	5: 103,703,999 (GRCm39)	T1344A	probably benign	Het
Ptprc	T	C	1: 138,001,419 (GRCm39)	Y780C	probably damaging	Het
Pxn	T	A	5: 115,690,815 (GRCm39)		probably benign	Het
Rap1gap2	G	A	11: 74,316,802 (GRCm39)	T245M	probably damaging	Het
Rc3h1	G	T	1: 160,757,827 (GRCm39)	K48N	probably damaging	Het
Rfwd3	T	C	8: 112,009,245 (GRCm39)	I444V	probably benign	Het
Rictor	C	T	15: 6,794,588 (GRCm39)	R293C	probably damaging	Het
Rif1	T	A	2: 52,001,412 (GRCm39)	I1622N	possibly damaging	Het
Rnf213	T	C	11: 119,306,019 (GRCm39)	V609A	probably benign	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Serac1	A	T	17: 6,101,060 (GRCm39)	I448N	probably damaging	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
Socs7	T	C	11: 97,263,950 (GRCm39)	F281L	probably benign	Het
Spta1	C	T	1: 174,040,180 (GRCm39)	L1214F	probably benign	Het
Ssu72	A	G	4: 155,789,900 (GRCm39)	E21G	probably damaging	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tmem130	C	A	5: 144,680,595 (GRCm39)	V270L	probably benign	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Tspyl2	A	T	X: 151,121,890 (GRCm39)	D572E	probably benign	Het
Unc45b	G	A	11: 82,808,580 (GRCm39)	R222H	probably benign	Het
Uxs1	T	C	1: 43,866,783 (GRCm39)	Y29C	probably damaging	Het
Virma	T	A	4: 11,548,726 (GRCm39)		probably benign	Het
Vmn1r202	C	T	13: 22,685,953 (GRCm39)	G155S	possibly damaging	Het
Vmn2r24	T	A	6: 123,755,972 (GRCm39)	F15I	probably benign	Het
Wdr64	A	G	1: 175,594,661 (GRCm39)	T471A	probably benign	Het
Zfa-ps	T	A	10: 52,419,373 (GRCm39)		noncoding transcript	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp300	A	G	X: 20,948,190 (GRCm39)	S525P	possibly damaging	Het
Zfp821	A	G	8: 110,450,979 (GRCm39)	D324G	probably damaging	Het
Zfp934	T	C	13: 62,665,648 (GRCm39)	D331G	probably damaging	Het
Zscan29	T	C	2: 121,000,587 (GRCm39)	R7G	probably damaging	Het

Other mutations in Sh3kbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02244:Sh3kbp1	APN	X	158,586,724 (GRCm39)	missense	probably damaging	1.00
R6726:Sh3kbp1	UTSW	X	158,624,176 (GRCm39)	missense	probably benign	0.01
R6728:Sh3kbp1	UTSW	X	158,624,176 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCTTGCCATTGTGGTGACC -3'
(R):5'- CACACAGAGACTTGGCATAAGC -3'

Sequencing Primer
(F):5'- GACTTTGGGCTCATTCTGTAATATTC -3'
(R):5'- GACTTGGCATAAGCTCAAGC -3'

Posted On

2014-10-01