Mutagenetix > Incidental Mutation

Incidental Mutation 'R6726:Sh3kbp1'

529888

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

044844-MU

Accession Numbers

Essential gene?

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

Stock #

R6726 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

158409888-158758916 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 158624176 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 39 (E39D)

Ref Sequence

ENSEMBL: ENSMUSP00000108072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073094] [ENSMUST00000080394] [ENSMUST00000112451] [ENSMUST00000112453] [ENSMUST00000112456] [ENSMUST00000123433] [ENSMUST00000141354]

AlphaFold

Q8R550

PDB Structure

Solution structure of the SH3 domain of SH3-domain kinase binding protein 1 [SOLUTION NMR]
Solution structure of the third SH3 domain of SH3-domain kinase binding protein 1 (Regulator of ubiquitous kinase, Ruk) [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000073094

SMART Domains

Protein: ENSMUSP00000072840
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	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

noncoding transcript
Transcript: ENSMUST00000112447

Predicted Effect

probably benign
Transcript: ENSMUST00000112451

SMART Domains

Protein: ENSMUSP00000108070
Gene: ENSMUSG00000040990

Domain	Start	End	E-Value	Type
SH3	32	89	1.26e-22	SMART
low complexity region	99	105	N/A	INTRINSIC
low complexity region	139	149	N/A	INTRINSIC
low complexity region	154	169	N/A	INTRINSIC
low complexity region	253	274	N/A	INTRINSIC
low complexity region	318	341	N/A	INTRINSIC
coiled coil region	365	422	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112453
AA Change: E39D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000108072
Gene: ENSMUSG00000040990
AA Change: E39D

Domain	Start	End	E-Value	Type
SH3	69	126	1.26e-22	SMART
low complexity region	136	142	N/A	INTRINSIC
low complexity region	176	186	N/A	INTRINSIC
low complexity region	191	206	N/A	INTRINSIC
low complexity region	290	311	N/A	INTRINSIC
low complexity region	355	378	N/A	INTRINSIC
coiled coil region	402	459	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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (41/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Arfgef2	T	A	2: 166,735,540 (GRCm39)		probably null	Het
Arsk	T	C	13: 76,222,907 (GRCm39)	Y230C	probably damaging	Het
Atf7ip	G	A	6: 136,559,389 (GRCm39)	V737M	probably damaging	Het
Atp6v1e1	A	T	6: 120,781,011 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,557,260 (GRCm39)	V3A	probably benign	Het
Brap	T	C	5: 121,813,365 (GRCm39)	S243P	probably damaging	Het
Camkmt	T	A	17: 85,702,037 (GRCm39)	I167N	probably damaging	Het
Ckap2l	C	A	2: 129,111,114 (GRCm39)	E694D	probably damaging	Het
Crmp1	G	A	5: 37,441,408 (GRCm39)	V497I	probably benign	Het
Dbx2	A	G	15: 95,522,741 (GRCm39)	V322A	possibly damaging	Het
Dll1	C	A	17: 15,590,513 (GRCm39)	C401F	probably damaging	Het
Dock10	T	C	1: 80,490,147 (GRCm39)	T1991A	probably damaging	Het
Dock3	C	T	9: 107,036,651 (GRCm39)	W42*	probably null	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Hdac1-ps	A	G	17: 78,800,287 (GRCm39)	E426G	probably damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Irs2	T	C	8: 11,054,961 (GRCm39)	N1157S	possibly damaging	Het
Kndc1	T	C	7: 139,502,667 (GRCm39)		probably null	Het
Map3k19	T	C	1: 127,748,185 (GRCm39)	N1241S	probably benign	Het
Or9g4b	T	C	2: 85,615,906 (GRCm39)	F17S	possibly damaging	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Pcdh17	T	A	14: 84,683,657 (GRCm39)	D41E	probably damaging	Het
Plg	T	G	17: 12,597,595 (GRCm39)	L14R	probably damaging	Het
Prkab1	A	G	5: 116,158,092 (GRCm39)	V168A	probably benign	Het
Prr35	G	C	17: 26,166,689 (GRCm39)	P283A	probably benign	Het
Ptdss1	C	T	13: 67,101,595 (GRCm39)	R95*	probably null	Het
Rab3gap2	T	G	1: 184,980,062 (GRCm39)	S327A	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Homo
Sdr42e2	T	C	7: 120,425,332 (GRCm39)	S308P	probably damaging	Het
Senp8	C	A	9: 59,644,473 (GRCm39)	V228L	probably benign	Het
Serpina10	A	T	12: 103,594,628 (GRCm39)	I197K	probably benign	Het
Serpinb6d	A	G	13: 33,854,718 (GRCm39)	N231S	probably benign	Het
Sez6l2	T	C	7: 126,567,177 (GRCm39)	V869A	probably damaging	Het
Sgo2b	T	A	8: 64,380,769 (GRCm39)	K688*	probably null	Het
Ufsp2	T	C	8: 46,438,504 (GRCm39)	M194T	probably benign	Het
Ush2a	T	C	1: 188,485,881 (GRCm39)	I2997T	possibly damaging	Het
Vmn2r107	G	A	17: 20,595,637 (GRCm39)	G730D	probably damaging	Het
Wdr72	T	C	9: 74,059,822 (GRCm39)	Y411H	possibly damaging	Het
Xirp2	T	C	2: 67,343,212 (GRCm39)	S1818P	possibly 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
R2145:Sh3kbp1	UTSW	X	158,607,492 (GRCm39)	missense	probably benign	0.09
R6728:Sh3kbp1	UTSW	X	158,624,176 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGAGAGTAATTTAGATGGGCAGTC -3'
(R):5'- CAGACTTCTGCTTTTAGGAAGAC -3'

Sequencing Primer
(F):5'- AACTGTTACACCATGTCACAGAGATG -3'
(R):5'- GGACTCAGAGAAACATGAC -3'

Posted On

2018-08-01