Mutagenetix > Incidental Mutation

Incidental Mutation 'R6728:Sh3kbp1'

529961

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

044846-MU

Accession Numbers

Essential gene?

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

Stock #

R6728 (G1)

Quality Score

221.999

Status

Not 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: 98.4%
20x: 95.6%

Validation Efficiency

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,645 (GRCm39)	Y440C	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adcy5	T	A	16: 34,977,535 (GRCm39)	V356E	possibly damaging	Het
Agmat	G	T	4: 141,476,897 (GRCm39)	C101F	probably benign	Het
Aoc1l3	T	C	6: 48,965,779 (GRCm39)	S596P	possibly damaging	Het
Atl1	T	C	12: 69,994,324 (GRCm39)	V276A	possibly damaging	Het
Barhl1	G	A	2: 28,805,495 (GRCm39)	P66L	probably benign	Het
Camk4	A	T	18: 33,317,992 (GRCm39)	E383V	probably benign	Het
Cap2	G	A	13: 46,793,335 (GRCm39)	E234K	possibly damaging	Het
Col24a1	A	T	3: 145,020,957 (GRCm39)	M443L	probably benign	Het
Cyp17a1	A	G	19: 46,657,673 (GRCm39)	V293A	probably benign	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Frmpd1	T	C	4: 45,284,664 (GRCm39)	S1162P	probably benign	Het
Hspbp1	T	A	7: 4,663,781 (GRCm39)	M355L	possibly damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Kin	G	A	2: 10,094,959 (GRCm39)	R82Q	possibly damaging	Het
Ninl	G	T	2: 150,817,777 (GRCm39)	S129*	probably null	Het
Or11h4	T	C	14: 50,974,296 (GRCm39)	T108A	possibly damaging	Het
Or4k35	A	T	2: 111,100,018 (GRCm39)	D231E	probably benign	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Platr25	G	A	13: 62,848,197 (GRCm39)	H222Y	probably damaging	Het
Plcb2	G	T	2: 118,554,171 (GRCm39)	S94Y	probably damaging	Het
Rock2	T	C	12: 17,011,737 (GRCm39)	Y722H	probably benign	Het
Thsd4	T	C	9: 59,904,480 (GRCm39)	D572G	probably benign	Het
Tnrc6b	T	A	15: 80,802,727 (GRCm39)	L1510H	probably damaging	Het
Tsc2	A	G	17: 24,840,098 (GRCm39)	S433P	probably damaging	Het
Vegfc	T	C	8: 54,639,057 (GRCm39)	V401A	probably damaging	Het
Vwa3b	A	G	1: 37,196,453 (GRCm39)	M27V	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
R2145:Sh3kbp1	UTSW	X	158,607,492 (GRCm39)	missense	probably benign	0.09
R6726:Sh3kbp1	UTSW	X	158,624,176 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCATGTCACAGAGATGTTTAGC -3'
(R):5'- CATAAGCCTTTACTTATCCTGTGG -3'

Sequencing Primer
(F):5'- GCAATTACAGATGTTTGTGCAGTC -3'
(R):5'- ACTTATCCTGTGGTTTCTTTAGGG -3'

Posted On

2018-08-01