Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02902:Shkbp1'

363664

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shkbp1

Ensembl Gene

ENSMUSG00000089832

Gene Name

Sh3kbp1 binding protein 1

Synonyms

SB1, B930062H15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02902

Quality Score

Status

Chromosome

Chromosomal Location

27041558-27055444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27042141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 605 (C605S)

Ref Sequence

ENSEMBL: ENSMUSP00000003857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003857]

AlphaFold

Q6P7W2

Predicted Effect

probably damaging
Transcript: ENSMUST00000003857
AA Change: C605S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: C605S

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

noncoding transcript
Transcript: ENSMUST00000123190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148933

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	G	T	1: 85,974,087 (GRCm39)	V135F	possibly damaging	Het
Aatk	T	C	11: 119,902,603 (GRCm39)	T541A	probably benign	Het
Abcc1	T	C	16: 14,240,991 (GRCm39)	L516P	probably damaging	Het
Actl6a	T	A	3: 32,776,791 (GRCm39)	V350E	possibly damaging	Het
Afm	A	G	5: 90,674,222 (GRCm39)	K245E	possibly damaging	Het
Agr3	T	C	12: 35,996,915 (GRCm39)	V63A	probably damaging	Het
Arhgef28	A	T	13: 98,083,383 (GRCm39)	M1162K	probably damaging	Het
Casq2	T	A	3: 101,994,113 (GRCm39)	C53*	probably null	Het
Ccdc181	T	C	1: 164,107,470 (GRCm39)	V51A	probably benign	Het
Cd101	A	G	3: 100,926,310 (GRCm39)		probably benign	Het
Csdc2	T	C	15: 81,832,801 (GRCm39)	V69A	probably benign	Het
Cyp2c23	A	T	19: 44,009,997 (GRCm39)		probably benign	Het
Dnph1	A	G	17: 46,809,427 (GRCm39)		probably benign	Het
Egf	T	C	3: 129,474,796 (GRCm39)	T1124A	probably benign	Het
Gpr45	A	G	1: 43,072,371 (GRCm39)	E338G	possibly damaging	Het
Grb14	A	C	2: 64,768,762 (GRCm39)	L98R	probably damaging	Het
Gucy1a1	T	C	3: 82,026,224 (GRCm39)	S77G	possibly damaging	Het
Helb	A	G	10: 119,925,390 (GRCm39)	S996P	probably benign	Het
Huwe1	A	G	X: 150,669,762 (GRCm39)	E1405G	probably damaging	Het
Ifi47	T	C	11: 48,986,617 (GRCm39)	I128T	probably benign	Het
Ift140	T	A	17: 25,309,736 (GRCm39)	Y1089N	probably damaging	Het
Ift56	A	C	6: 38,402,097 (GRCm39)	S530R	probably benign	Het
Il1r1	A	T	1: 40,341,569 (GRCm39)	H324L	probably benign	Het
Irx1	C	T	13: 72,107,974 (GRCm39)	R236H	probably benign	Het
Itpr3	T	C	17: 27,323,530 (GRCm39)	V1185A	probably benign	Het
Kif19a	T	C	11: 114,676,396 (GRCm39)	V450A	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,446 (GRCm39)	Y65*	probably null	Het
Ltn1	A	T	16: 87,176,693 (GRCm39)	N1704K	possibly damaging	Het
Med1	T	C	11: 98,047,335 (GRCm39)		probably benign	Het
Meis2	T	A	2: 115,893,804 (GRCm39)	H36L	probably damaging	Het
Mier2	T	C	10: 79,385,456 (GRCm39)	N124S	probably damaging	Het
Mmp20	A	G	9: 7,654,171 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,569,212 (GRCm39)	T91A	possibly damaging	Het
Myo3b	T	A	2: 70,119,745 (GRCm39)	V935E	probably benign	Het
Ndufa7	T	C	17: 34,048,632 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,825,405 (GRCm39)	E366G	possibly damaging	Het
Nobox	A	T	6: 43,282,617 (GRCm39)	N263K	probably benign	Het
Notch2	A	G	3: 98,018,890 (GRCm39)	D684G	probably damaging	Het
Odr4	C	A	1: 150,260,179 (GRCm39)		probably null	Het
Or2t1	A	G	14: 14,328,789 (GRCm38)	H226R	probably benign	Het
Or4c12b	T	A	2: 89,647,508 (GRCm39)	Y273*	probably null	Het
Or5p69	C	A	7: 107,967,336 (GRCm39)	T213K	probably damaging	Het
Or5w13	T	C	2: 87,523,344 (GRCm39)	N294S	probably damaging	Het
Or6aa1	T	C	7: 86,043,743 (GRCm39)		probably benign	Het
Plau	A	C	14: 20,889,965 (GRCm39)	D270A	possibly damaging	Het
Pof1b	T	C	X: 111,558,809 (GRCm39)		probably null	Het
Pramel23	A	G	4: 143,424,913 (GRCm39)	C177R	probably damaging	Het
Prtn3	A	T	10: 79,717,767 (GRCm39)		probably null	Het
Ptges3	T	A	10: 127,904,616 (GRCm39)	D26E	probably benign	Het
Pxmp2	T	C	5: 110,429,160 (GRCm39)	E99G	probably benign	Het
Rasgef1a	A	G	6: 118,060,068 (GRCm39)	R106G	probably benign	Het
Rnf208	T	C	2: 25,133,774 (GRCm39)	V156A	probably benign	Het
Rps6ka1	A	T	4: 133,599,292 (GRCm39)	I45N	possibly damaging	Het
Rps6ka4	C	T	19: 6,809,623 (GRCm39)		probably null	Het
Rsbn1	G	T	3: 103,860,972 (GRCm39)	C466F	possibly damaging	Het
Slc2a10	G	A	2: 165,360,142 (GRCm39)	D531N	probably benign	Het
Sox13	A	G	1: 133,317,204 (GRCm39)	L143P	probably damaging	Het
Stx2	C	T	5: 129,069,285 (GRCm39)	R142Q	probably damaging	Het
Tanc1	T	A	2: 59,623,431 (GRCm39)		probably benign	Het
Tubgcp5	C	T	7: 55,456,355 (GRCm39)	Q316*	probably null	Het
Ubc	A	G	5: 125,463,293 (GRCm39)	V678A	probably benign	Het
Unc5d	G	A	8: 29,365,634 (GRCm39)	T117I	probably damaging	Het
Vmn2r4	T	C	3: 64,314,337 (GRCm39)	I126V	probably benign	Het
Zfp410	T	A	12: 84,378,594 (GRCm39)		probably null	Het

Other mutations in Shkbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Shkbp1	APN	7	27,054,676 (GRCm39)	missense	probably benign	0.28
IGL01469:Shkbp1	APN	7	27,055,366 (GRCm39)	missense	probably benign
IGL01787:Shkbp1	APN	7	27,041,875 (GRCm39)	missense	possibly damaging	0.93
IGL02149:Shkbp1	APN	7	27,042,064 (GRCm39)	unclassified	probably benign
R0086:Shkbp1	UTSW	7	27,051,451 (GRCm39)	missense	probably benign	0.00
R0219:Shkbp1	UTSW	7	27,051,486 (GRCm39)	missense	probably benign	0.01
R0485:Shkbp1	UTSW	7	27,048,006 (GRCm39)	missense	probably damaging	1.00
R1036:Shkbp1	UTSW	7	27,044,721 (GRCm39)	missense	possibly damaging	0.86
R1468:Shkbp1	UTSW	7	27,044,751 (GRCm39)	missense	probably damaging	1.00
R1468:Shkbp1	UTSW	7	27,044,751 (GRCm39)	missense	probably damaging	1.00
R1608:Shkbp1	UTSW	7	27,054,204 (GRCm39)	missense	probably benign	0.01
R1757:Shkbp1	UTSW	7	27,041,776 (GRCm39)	missense	probably benign
R1968:Shkbp1	UTSW	7	27,054,825 (GRCm39)	critical splice donor site	probably null
R2763:Shkbp1	UTSW	7	27,046,454 (GRCm39)	missense	probably benign	0.05
R3027:Shkbp1	UTSW	7	27,042,818 (GRCm39)	missense	probably benign	0.18
R3924:Shkbp1	UTSW	7	27,041,827 (GRCm39)	missense	probably benign
R4425:Shkbp1	UTSW	7	27,042,727 (GRCm39)	missense	probably benign	0.38
R5048:Shkbp1	UTSW	7	27,051,521 (GRCm39)	unclassified	probably benign
R5862:Shkbp1	UTSW	7	27,042,829 (GRCm39)	nonsense	probably null
R5955:Shkbp1	UTSW	7	27,041,949 (GRCm39)	missense	probably benign
R6016:Shkbp1	UTSW	7	27,053,826 (GRCm39)	missense	possibly damaging	0.92
R6226:Shkbp1	UTSW	7	27,051,405 (GRCm39)	missense	probably null	1.00
R6362:Shkbp1	UTSW	7	27,051,120 (GRCm39)	critical splice donor site	probably null
R6382:Shkbp1	UTSW	7	27,051,484 (GRCm39)	nonsense	probably null
R6460:Shkbp1	UTSW	7	27,049,963 (GRCm39)	missense	probably benign	0.01
R6647:Shkbp1	UTSW	7	27,041,800 (GRCm39)	missense	probably benign
R7025:Shkbp1	UTSW	7	27,054,706 (GRCm39)	missense	possibly damaging	0.47
R7255:Shkbp1	UTSW	7	27,042,173 (GRCm39)	missense	possibly damaging	0.93
R7522:Shkbp1	UTSW	7	27,046,583 (GRCm39)	missense	possibly damaging	0.88
R7571:Shkbp1	UTSW	7	27,046,556 (GRCm39)	missense	possibly damaging	0.90
R8207:Shkbp1	UTSW	7	27,052,109 (GRCm39)	missense	probably benign	0.01
R8770:Shkbp1	UTSW	7	27,051,311 (GRCm39)	missense	possibly damaging	0.65
R8996:Shkbp1	UTSW	7	27,042,844 (GRCm39)	missense	possibly damaging	0.88
R9361:Shkbp1	UTSW	7	27,051,492 (GRCm39)	missense	probably benign	0.00
R9758:Shkbp1	UTSW	7	27,046,442 (GRCm39)	missense	probably benign	0.22
Z1177:Shkbp1	UTSW	7	27,046,426 (GRCm39)	critical splice donor site	probably null

Posted On

2015-12-18