Mutagenetix > Incidental Mutations

Incidental Mutation 'R6016:Shkbp1'

478600

Institutional Source

Beutler Lab

Gene Symbol

Shkbp1

Ensembl Gene

ENSMUSG00000089832

Gene Name

Sh3kbp1 binding protein 1

Synonyms

B930062H15Rik, SB1

MMRRC Submission

043255-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6016 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27342133-27356019 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27354401 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 124 (V124A)

Ref Sequence

ENSEMBL: ENSMUSP00000003857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003857] [ENSMUST00000011895] [ENSMUST00000108362] [ENSMUST00000108363] [ENSMUST00000108364] [ENSMUST00000172269]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003857
AA Change: V124A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: V124A

Domain	Start	End	E-Value	Type
BTB	19	119	1.65e-16	SMART
low complexity region	183	194	N/A	INTRINSIC
Blast:WD40	196	271	1e-21	BLAST
WD40	277	313	1.9e2	SMART
WD40	419	457	3.45e-1	SMART
WD40	527	577	3.68e1	SMART
low complexity region	612	631	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000011895

SMART Domains

Protein: ENSMUSP00000011895
Gene: ENSMUSG00000011751

Domain	Start	End	E-Value	Type
low complexity region	39	45	N/A	INTRINSIC
CH	64	164	8.03e-24	SMART
CH	183	281	7.38e-23	SMART
Pfam:Spectrin	310	420	1.4e-10	PFAM
SPEC	433	533	5.22e-26	SMART
SPEC	539	642	7.62e-19	SMART
SPEC	648	766	1.31e-8	SMART
SPEC	772	874	2.94e-11	SMART
SPEC	880	980	1.49e-21	SMART
SPEC	986	1081	1.65e0	SMART
SPEC	1087	1192	2.82e-13	SMART
SPEC	1198	1298	6.59e-14	SMART
SPEC	1304	1403	4.08e-19	SMART
SPEC	1409	1508	5.92e-7	SMART
SPEC	1514	1614	2.45e-22	SMART
SPEC	1620	1720	1.45e-24	SMART
SPEC	1726	1827	1.86e-22	SMART
SPEC	1833	1935	9.54e-11	SMART
SPEC	1941	2041	1.35e-19	SMART
SPEC	2047	2297	1.06e-8	SMART
low complexity region	2358	2412	N/A	INTRINSIC
PH	2416	2526	1.54e-14	SMART
low complexity region	2549	2560	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108362

SMART Domains

Protein: ENSMUSP00000103999
Gene: ENSMUSG00000011751

Domain	Start	End	E-Value	Type
SPEC	1	83	9.7e-3	SMART
SPEC	89	188	5.92e-7	SMART
SPEC	194	294	2.45e-22	SMART
SPEC	300	400	1.45e-24	SMART
SPEC	406	507	1.86e-22	SMART
SPEC	513	615	9.54e-11	SMART
SPEC	621	721	1.35e-19	SMART
SPEC	727	977	1.06e-8	SMART
low complexity region	1038	1092	N/A	INTRINSIC
PH	1096	1206	1.54e-14	SMART
low complexity region	1229	1240	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108363

SMART Domains

Protein: ENSMUSP00000104000
Gene: ENSMUSG00000011751

Domain	Start	End	E-Value	Type
SPEC	1	83	9.7e-3	SMART
SPEC	89	188	5.92e-7	SMART
SPEC	194	294	2.45e-22	SMART
SPEC	300	400	1.45e-24	SMART
SPEC	406	507	1.86e-22	SMART
SPEC	513	615	9.54e-11	SMART
SPEC	621	721	1.35e-19	SMART
SPEC	727	977	1.06e-8	SMART
low complexity region	1038	1092	N/A	INTRINSIC
PH	1096	1206	1.54e-14	SMART
low complexity region	1229	1240	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108364

SMART Domains

Protein: ENSMUSP00000104001
Gene: ENSMUSG00000011751

Domain	Start	End	E-Value	Type
SPEC	1	83	9.7e-3	SMART
SPEC	89	188	5.92e-7	SMART
SPEC	194	294	2.45e-22	SMART
SPEC	300	400	1.45e-24	SMART
SPEC	406	507	1.86e-22	SMART
SPEC	513	615	9.54e-11	SMART
SPEC	621	721	1.35e-19	SMART
SPEC	727	977	1.06e-8	SMART
low complexity region	1038	1092	N/A	INTRINSIC
PH	1096	1206	1.54e-14	SMART
low complexity region	1229	1240	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123190

Predicted Effect

probably benign
Transcript: ENSMUST00000126587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157078

Predicted Effect

probably benign
Transcript: ENSMUST00000172269

SMART Domains

Protein: ENSMUSP00000132807
Gene: ENSMUSG00000011751

Domain	Start	End	E-Value	Type
low complexity region	39	45	N/A	INTRINSIC
CH	64	164	8.03e-24	SMART
CH	183	281	7.38e-23	SMART
Pfam:Spectrin	310	420	1.9e-10	PFAM
SPEC	433	533	5.22e-26	SMART
SPEC	539	637	3.45e-17	SMART
SPEC	643	761	1.31e-8	SMART
SPEC	767	869	2.94e-11	SMART
SPEC	875	975	1.49e-21	SMART
SPEC	981	1076	1.65e0	SMART
SPEC	1082	1187	2.82e-13	SMART
SPEC	1193	1293	6.59e-14	SMART
SPEC	1299	1398	4.08e-19	SMART
SPEC	1404	1503	5.92e-7	SMART
SPEC	1509	1609	2.45e-22	SMART
SPEC	1615	1715	1.45e-24	SMART
SPEC	1721	1822	1.86e-22	SMART
SPEC	1828	1930	9.54e-11	SMART
SPEC	1936	2036	1.35e-19	SMART
SPEC	2042	2292	1.06e-8	SMART
low complexity region	2352	2406	N/A	INTRINSIC
PH	2410	2520	1.54e-14	SMART
low complexity region	2543	2554	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	C	15: 77,735,858	S285P	probably damaging	Het
Casz1	C	A	4: 148,934,584	N447K	probably damaging	Het
Cltb	T	C	13: 54,606,667	T71A	possibly damaging	Het
Dcaf12	A	G	4: 41,313,267	F93L	probably damaging	Het
Dnah5	T	C	15: 28,327,884	Y2135H	probably damaging	Het
Entpd2	C	T	2: 25,398,556	R191W	probably damaging	Het
Gm17067	G	T	7: 42,708,230	P283T	probably benign	Het
Gm3250	A	G	10: 77,782,533		probably benign	Het
Gne	T	C	4: 44,039,063	E532G	probably damaging	Het
Gsdmc3	T	G	15: 63,868,412	D86A	probably benign	Het
Hs3st2	A	G	7: 121,500,699	H256R	probably damaging	Het
Il19	T	A	1: 130,935,981	D16V	probably damaging	Het
Lats2	A	T	14: 57,734,175	N14K	probably damaging	Het
Mill2	G	T	7: 18,856,448	S151I	probably benign	Het
Ncapg2	G	A	12: 116,426,607	R392H	probably damaging	Het
Nop56	T	C	2: 130,276,625		probably null	Het
Olfr1344	A	T	7: 6,440,614	H238L	probably benign	Het
Olfr467	A	T	7: 107,815,012	I143F	probably benign	Het
Olfr761	A	T	17: 37,952,076	V316D	probably benign	Het
Pde1a	T	C	2: 79,865,062	R446G	probably benign	Het
Pes1	T	A	11: 3,978,004	M552K	possibly damaging	Het
Plxnb2	T	A	15: 89,161,022	T1074S	possibly damaging	Het
Psg23	G	T	7: 18,612,187	H194Q	probably benign	Het
Rprd2	A	G	3: 95,787,373	V116A	probably damaging	Het
Slc38a8	A	T	8: 119,494,305		probably null	Het
Slitrk6	A	G	14: 110,750,526	V583A	probably benign	Het
Sptbn5	G	T	2: 120,050,092		noncoding transcript	Het
Stab1	A	T	14: 31,158,993	I614N	probably damaging	Het
Tgm6	A	G	2: 130,141,228	T246A	probably damaging	Het
Tnks1bp1	T	C	2: 85,052,390	L187P	probably damaging	Het
Vmn1r157	A	G	7: 22,761,847	R51G	possibly damaging	Het
Vmn2r68	A	T	7: 85,222,245	I610K	probably damaging	Het

Other mutations in Shkbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Shkbp1	APN	7	27355251	missense	probably benign	0.28
IGL01469:Shkbp1	APN	7	27355941	missense	probably benign
IGL01787:Shkbp1	APN	7	27342450	missense	possibly damaging	0.93
IGL02149:Shkbp1	APN	7	27342639	unclassified	probably benign
IGL02902:Shkbp1	APN	7	27342716	missense	probably damaging	0.97
R0086:Shkbp1	UTSW	7	27352026	missense	probably benign	0.00
R0219:Shkbp1	UTSW	7	27352061	missense	probably benign	0.01
R0485:Shkbp1	UTSW	7	27348581	missense	probably damaging	1.00
R1036:Shkbp1	UTSW	7	27345296	missense	possibly damaging	0.86
R1468:Shkbp1	UTSW	7	27345326	missense	probably damaging	1.00
R1468:Shkbp1	UTSW	7	27345326	missense	probably damaging	1.00
R1608:Shkbp1	UTSW	7	27354779	missense	probably benign	0.01
R1757:Shkbp1	UTSW	7	27342351	missense	probably benign
R1968:Shkbp1	UTSW	7	27355400	critical splice donor site	probably null
R2763:Shkbp1	UTSW	7	27347029	missense	probably benign	0.05
R3027:Shkbp1	UTSW	7	27343393	missense	probably benign	0.18
R3924:Shkbp1	UTSW	7	27342402	missense	probably benign
R4425:Shkbp1	UTSW	7	27343302	missense	probably benign	0.38
R5048:Shkbp1	UTSW	7	27352096	unclassified	probably benign
R5862:Shkbp1	UTSW	7	27343404	nonsense	probably null
R5955:Shkbp1	UTSW	7	27342524	missense	probably benign
R6226:Shkbp1	UTSW	7	27351980	missense	probably null	1.00
R6362:Shkbp1	UTSW	7	27351695	critical splice donor site	probably null
R6382:Shkbp1	UTSW	7	27352059	nonsense	probably null
R6460:Shkbp1	UTSW	7	27350538	missense	probably benign	0.01
R6647:Shkbp1	UTSW	7	27342375	missense	probably benign
R7025:Shkbp1	UTSW	7	27355281	missense	possibly damaging	0.47
R7255:Shkbp1	UTSW	7	27342748	missense	possibly damaging	0.93
R7522:Shkbp1	UTSW	7	27347158	missense	possibly damaging	0.88
R7571:Shkbp1	UTSW	7	27347131	missense	possibly damaging	0.90
R8207:Shkbp1	UTSW	7	27352684	missense	probably benign	0.01
Z1177:Shkbp1	UTSW	7	27347001	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAAAGAGAACTGGCTGTTGCAC -3'
(R):5'- TAAGAGCACCGGATTTGGG -3'

Sequencing Primer
(F):5'- CTGTTGCACAGCTTCAAGG -3'
(R):5'- CACCGGATTTGGGTCTGGC -3'

Posted On

2017-06-26