Mutagenetix > Incidental Mutation

Incidental Mutation 'R1608:Shkbp1'

176623

Institutional Source

Beutler Lab

Gene Symbol

Shkbp1

Ensembl Gene

ENSMUSG00000089832

Gene Name

Sh3kbp1 binding protein 1

Synonyms

B930062H15Rik, SB1

MMRRC Submission

039645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27342133-27356019 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27354779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 89 (V89A)

Ref Sequence

ENSEMBL: ENSMUSP00000003857 (fasta)

Gene Model

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

AlphaFold

Q6P7W2

Predicted Effect

probably benign
Transcript: ENSMUST00000003857
AA Change: V89A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: V89A

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: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,902,479	S797P	probably damaging	Het
Akap9	T	C	5: 3,961,783	Y829H	probably damaging	Het
Anp32a	A	G	9: 62,372,093	D74G	probably damaging	Het
B230118H07Rik	T	C	2: 101,610,571	E29G	probably damaging	Het
B3gat1	T	C	9: 26,751,816	I13T	probably damaging	Het
Cbfa2t3	A	T	8: 122,647,709	V99D	probably damaging	Het
Celsr2	C	T	3: 108,402,483	C1600Y	probably damaging	Het
Ddx31	T	A	2: 28,859,066	N291K	probably damaging	Het
Dennd1a	T	G	2: 37,852,434	M3L	probably benign	Het
Dnah12	C	T	14: 26,766,190	P1017L	probably damaging	Het
Dnajc6	A	T	4: 101,599,167	D86V	probably damaging	Het
Evx2	T	G	2: 74,657,851	K208N	probably damaging	Het
F13a1	A	G	13: 36,868,811	V718A	probably damaging	Het
Fcho2	T	C	13: 98,726,198	D757G	probably benign	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Fryl	C	T	5: 73,074,751	W424*	probably null	Het
Gata3	G	T	2: 9,874,768	Y97*	probably null	Het
Gm15446	T	A	5: 109,942,457	C192S	probably damaging	Het
Hdac10	A	T	15: 89,125,318	D470E	probably benign	Het
Ier2	A	G	8: 84,662,426	L109P	probably benign	Het
Kcnh2	T	C	5: 24,322,219	T559A	probably benign	Het
Khk	C	T	5: 30,930,594	A204V	probably damaging	Het
Kndc1	T	A	7: 139,927,408	M1169K	possibly damaging	Het
Krtap31-1	A	G	11: 99,908,093	S41G	probably benign	Het
Nabp1	T	C	1: 51,473,003		probably null	Het
Nphp3	A	G	9: 104,035,840	D939G	probably benign	Het
Olfr513	A	T	7: 108,755,102	N82I	probably damaging	Het
Plcg2	T	C	8: 117,614,235	I1089T	possibly damaging	Het
Ptk2	A	T	15: 73,262,575	D558E	probably damaging	Het
Serpinb6d	A	G	13: 33,669,129	D168G	probably benign	Het
Shisa8	G	A	15: 82,208,555	P189L	probably damaging	Het
Slc40a1	C	T	1: 45,911,297	A332T	probably damaging	Het
Slc44a3	A	T	3: 121,497,847	Y373*	probably null	Het
Slf2	T	C	19: 44,949,001	V722A	probably benign	Het
Spanxn4	A	G	12: 62,687,838		noncoding transcript	Het
Stag3	T	A	5: 138,298,639		probably null	Het
Tanc1	T	C	2: 59,797,694	I612T	possibly damaging	Het
Thbs2	T	A	17: 14,685,781	M286L	probably benign	Het
Top1	T	A	2: 160,703,595	N294K	probably benign	Het
Tpr	T	G	1: 150,426,893	L1381V	probably damaging	Het
Trpm8	T	G	1: 88,326,432	S126A	probably benign	Het
Ttc41	A	G	10: 86,775,993	Y1075C	probably damaging	Het
Ubox5	C	T	2: 130,597,456	G418D	probably benign	Het
Vmn1r67	T	C	7: 10,446,980	V57A	possibly damaging	Het
Zbtb5	T	C	4: 44,993,500	H628R	probably damaging	Het
Zfp810	T	C	9: 22,278,920	I231V	probably benign	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
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
R6016:Shkbp1	UTSW	7	27354401	missense	possibly damaging	0.92
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
R8770:Shkbp1	UTSW	7	27351886	missense	possibly damaging	0.65
R8996:Shkbp1	UTSW	7	27343419	missense	possibly damaging	0.88
R9361:Shkbp1	UTSW	7	27352067	missense	probably benign	0.00
R9758:Shkbp1	UTSW	7	27347017	missense	probably benign	0.22
Z1177:Shkbp1	UTSW	7	27347001	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAAAGAGGAGAGGCATTCTGCTCAG -3'
(R):5'- GCGGACCAAAGAGTTAGATCCCAG -3'

Sequencing Primer
(F):5'- GGCATTCTGCTCAGGAAATAACTG -3'
(R):5'- gccagtctttatctcccatgtc -3'

Posted On

2014-04-24