Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01469:Shkbp1'

88203

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shkbp1

Ensembl Gene

ENSMUSG00000089832

Gene Name

Sh3kbp1 binding protein 1

Synonyms

B930062H15Rik, SB1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01469

Quality Score

Status

Chromosome

Chromosomal Location

27342133-27356019 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27355941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 6 (T6A)

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: T6A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: T6A

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: 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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	A	G	4: 144,528,622	Q204R	possibly damaging	Het
Actn2	C	T	13: 12,310,910	E60K	possibly damaging	Het
Alpk1	T	C	3: 127,677,752		probably null	Het
Ccdc107	A	G	4: 43,495,751	N218S	probably benign	Het
Cdh23	A	T	10: 60,597,725	M60K	probably benign	Het
Cenpe	A	G	3: 135,228,806	Q378R	probably damaging	Het
Dnah8	T	A	17: 30,683,714		probably benign	Het
Eif2b4	T	C	5: 31,187,767	D190G	probably benign	Het
Fmo5	A	G	3: 97,651,568	N448S	probably benign	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Gbf1	A	T	19: 46,279,364	E1271V	probably damaging	Het
Ifitm6	A	T	7: 141,016,812	V16D	probably damaging	Het
Ighv2-4	A	G	12: 113,653,346		probably null	Het
Kng2	T	A	16: 22,999,827	K305I	probably damaging	Het
Lrp1	C	T	10: 127,584,414	R900Q	probably damaging	Het
Maml1	A	G	11: 50,266,526	M274T	probably damaging	Het
Med23	A	G	10: 24,882,597	E278G	probably damaging	Het
Myo1h	A	G	5: 114,361,269	T164A	probably damaging	Het
Ncoa2	A	T	1: 13,186,869	S135R	probably benign	Het
Nrbf2	A	G	10: 67,270,140	L41P	probably damaging	Het
Olfr108	T	A	17: 37,445,535	S5T	probably benign	Het
Olfr341	T	C	2: 36,479,824	Y102C	probably benign	Het
Olfr514	A	G	7: 108,825,327	V224A	probably benign	Het
Olfr678	T	A	7: 105,070,388	M307K	probably benign	Het
Olfr782	A	G	10: 129,350,580	M6V	probably benign	Het
Otoa	T	C	7: 121,155,273		probably null	Het
Pih1d3	A	T	1: 31,223,429	D164V	probably damaging	Het
Plxnb1	T	C	9: 109,105,415		probably benign	Het
Ppp1r42	A	T	1: 10,003,233		probably null	Het
Rad54l2	T	A	9: 106,722,758	K100M	probably damaging	Het
Rnf112	T	A	11: 61,451,341	T308S	possibly damaging	Het
Scaper	T	C	9: 55,859,767	D466G	probably damaging	Het
Sgsm2	T	A	11: 74,853,871	I796L	possibly damaging	Het
Shank3	T	C	15: 89,521,274	L476P	probably damaging	Het
Slc14a2	A	T	18: 78,155,566	I783N	probably damaging	Het
Stat1	A	G	1: 52,147,370	D447G	possibly damaging	Het
Tekt3	T	G	11: 63,073,468	I208S	probably damaging	Het
Tenm3	A	T	8: 48,236,423	V2043E	probably damaging	Het
Tgm3	T	C	2: 130,024,494	Y111H	probably damaging	Het
Tph2	T	A	10: 115,079,759	R459*	probably null	Het
Vmn2r109	T	C	17: 20,541,409	Y562C	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
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
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
Z1177:Shkbp1	UTSW	7	27347001	critical splice donor site	probably null

Posted On

2013-11-18