Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03123:Setbp1'

410069

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

IGL03123

Quality Score

Status

Chromosome

Chromosomal Location

78750380-79109391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78857009 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1148 (K1148E)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025430]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025430
AA Change: K1148E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: K1148E

Domain	Start	End	E-Value	Type
low complexity region	155	165	N/A	INTRINSIC
low complexity region	221	251	N/A	INTRINSIC
low complexity region	278	286	N/A	INTRINSIC
AT_hook	528	540	4.64e-1	SMART
low complexity region	565	571	N/A	INTRINSIC
low complexity region	594	617	N/A	INTRINSIC
low complexity region	878	887	N/A	INTRINSIC
AT_hook	960	972	1.89e-1	SMART
low complexity region	1086	1103	N/A	INTRINSIC
low complexity region	1316	1337	N/A	INTRINSIC
AT_hook	1393	1405	7.27e-1	SMART
low complexity region	1462	1486	N/A	INTRINSIC
low complexity region	1498	1514	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	T	C	14: 49,073,761	V96A	probably damaging	Het
Atp10b	T	C	11: 43,153,283	V112A	probably benign	Het
Caprin2	G	T	6: 148,895,007	A36E	probably damaging	Het
Dnase1l2	T	C	17: 24,442,252	M28V	possibly damaging	Het
Eci1	T	A	17: 24,436,326		probably null	Het
Edil3	T	A	13: 89,131,736	S178T	probably damaging	Het
Epha5	A	G	5: 84,331,226		probably null	Het
Exoc3l4	A	G	12: 111,422,113	E12G	probably damaging	Het
Frmd7	G	A	X: 50,895,958	T445I	probably benign	Het
Gatsl3	A	T	11: 4,220,278	T119S	probably damaging	Het
Golga4	A	G	9: 118,536,885	E344G	probably damaging	Het
H2-M10.4	A	G	17: 36,461,920	Y57H	probably damaging	Het
Hnmt	T	C	2: 24,019,159	I81V	probably benign	Het
Hsd17b7	C	T	1: 169,953,080	E320K	probably damaging	Het
Htra3	C	T	5: 35,666,133	V280I	probably damaging	Het
Impg2	G	T	16: 56,267,122	E992D	probably damaging	Het
Kctd4	T	C	14: 75,962,978	W130R	possibly damaging	Het
Kdm3b	T	A	18: 34,809,491		probably null	Het
Kmt2d	G	A	15: 98,861,771	T1202M	unknown	Het
Lrp11	A	T	10: 7,602,925	D326V	probably damaging	Het
Lrrcc1	A	T	3: 14,536,084	I59F	probably damaging	Het
Lyg2	G	A	1: 37,915,764		probably benign	Het
Med16	A	G	10: 79,896,833	V699A	probably damaging	Het
Myo18b	G	T	5: 112,874,938		probably benign	Het
Nrxn2	A	G	19: 6,481,737	T744A	probably damaging	Het
Olfr397	T	A	11: 73,964,986	I126N	probably damaging	Het
Oser1	A	T	2: 163,411,389		probably benign	Het
Pcdhgc5	T	C	18: 37,819,913	V80A	probably benign	Het
Pi4ka	C	T	16: 17,282,675	G1857D	possibly damaging	Het
Pitpnc1	C	T	11: 107,337,411		probably null	Het
Pofut2	A	G	10: 77,267,010	E137G	probably benign	Het
Rgsl1	A	T	1: 153,825,941	W291R	probably damaging	Het
Rnf113a2	T	C	12: 84,418,276	I314T	probably benign	Het
Rps2	C	T	17: 24,720,289		probably benign	Het
Slc45a2	A	G	15: 11,012,655	D248G	probably benign	Het
Slit2	G	T	5: 48,211,339	R352L	probably damaging	Het
Smg1	A	G	7: 118,157,181		probably benign	Het
Sycp2	A	T	2: 178,352,479	C1217*	probably null	Het
Tbcb	A	G	7: 30,226,836		probably benign	Het
Tinf2	T	C	14: 55,680,889	D128G	probably damaging	Het
Traf3ip2	A	G	10: 39,639,222	D332G	possibly damaging	Het
Tram1	A	G	1: 13,589,605	F40L	probably benign	Het
Trank1	A	T	9: 111,367,407	I1500L	probably damaging	Het
Wdfy4	G	A	14: 33,162,870	P25L	probably benign	Het
Wnt5a	G	T	14: 28,522,925	Q376H	probably damaging	Het
Zfp526	A	C	7: 25,224,624	T103P	probably benign	Het

Other mutations in Setbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Setbp1	APN	18	78755679	nonsense	probably null	0.00
IGL00668:Setbp1	APN	18	78857770	missense	probably damaging	1.00
IGL01628:Setbp1	APN	18	78856777	missense	probably damaging	1.00
IGL02084:Setbp1	APN	18	78857410	missense	probably damaging	1.00
IGL02405:Setbp1	APN	18	78857299	missense	probably damaging	1.00
IGL02427:Setbp1	APN	18	78857473	missense	probably damaging	1.00
IGL02612:Setbp1	APN	18	78755710	missense	probably damaging	1.00
IGL02725:Setbp1	APN	18	78857374	nonsense	probably null
IGL03005:Setbp1	APN	18	78859125	missense	possibly damaging	0.75
R1083:Setbp1	UTSW	18	78857626	missense	probably damaging	1.00
R1110:Setbp1	UTSW	18	78857860	missense	probably damaging	1.00
R1167:Setbp1	UTSW	18	78857236	missense	possibly damaging	0.85
R1221:Setbp1	UTSW	18	78856583	missense	probably damaging	1.00
R1225:Setbp1	UTSW	18	78858208	missense	probably damaging	0.99
R1327:Setbp1	UTSW	18	78783358	missense	probably benign	0.00
R1481:Setbp1	UTSW	18	78783301	missense	probably benign	0.01
R1482:Setbp1	UTSW	18	79086835	missense	probably damaging	1.00
R1496:Setbp1	UTSW	18	78859912	missense	probably damaging	1.00
R1550:Setbp1	UTSW	18	78858592	missense	probably damaging	1.00
R1708:Setbp1	UTSW	18	78858467	missense	probably damaging	0.99
R1751:Setbp1	UTSW	18	78857398	missense	probably damaging	1.00
R1922:Setbp1	UTSW	18	78858362	missense	possibly damaging	0.75
R1986:Setbp1	UTSW	18	78858544	missense	probably damaging	0.99
R2090:Setbp1	UTSW	18	78856720	missense	probably benign	0.00
R2851:Setbp1	UTSW	18	78923996	missense	probably benign	0.11
R2853:Setbp1	UTSW	18	78923996	missense	probably benign	0.11
R2941:Setbp1	UTSW	18	78858197	missense	probably damaging	1.00
R3151:Setbp1	UTSW	18	78857435	missense	probably damaging	1.00
R3156:Setbp1	UTSW	18	78859303	missense	probably benign	0.00
R3807:Setbp1	UTSW	18	78783322	missense	probably benign	0.01
R4133:Setbp1	UTSW	18	78856991	missense	probably benign	0.05
R4287:Setbp1	UTSW	18	78859061	missense	probably benign	0.03
R4345:Setbp1	UTSW	18	79086579	missense	probably damaging	0.99
R4374:Setbp1	UTSW	18	78859922	missense	probably damaging	0.97
R4377:Setbp1	UTSW	18	78859922	missense	probably damaging	0.97
R4378:Setbp1	UTSW	18	78856618	missense	possibly damaging	0.95
R4379:Setbp1	UTSW	18	79086681	missense	probably damaging	1.00
R4585:Setbp1	UTSW	18	79086949	missense	probably benign	0.00
R4595:Setbp1	UTSW	18	78857516	missense	probably benign	0.00
R4817:Setbp1	UTSW	18	78858800	missense	probably damaging	1.00
R4971:Setbp1	UTSW	18	78858167	missense	probably benign	0.07
R4976:Setbp1	UTSW	18	79086712	missense	probably damaging	1.00
R5017:Setbp1	UTSW	18	78856594	missense	possibly damaging	0.81
R5066:Setbp1	UTSW	18	78857299	missense	probably damaging	1.00
R5133:Setbp1	UTSW	18	78857482	missense	probably damaging	1.00
R5151:Setbp1	UTSW	18	78857999	missense	probably damaging	1.00
R5237:Setbp1	UTSW	18	78856975	missense	possibly damaging	0.92
R5480:Setbp1	UTSW	18	78858063	missense	probably damaging	0.99
R5507:Setbp1	UTSW	18	79086712	missense	probably damaging	1.00
R5529:Setbp1	UTSW	18	79086652	missense	probably damaging	0.99
R5622:Setbp1	UTSW	18	78857485	missense	probably damaging	1.00
R5722:Setbp1	UTSW	18	78856645	missense	possibly damaging	0.95
R5806:Setbp1	UTSW	18	78856482	splice site	probably null
R5940:Setbp1	UTSW	18	78755488	missense	probably damaging	1.00
R6025:Setbp1	UTSW	18	78859240	missense	probably damaging	0.98
R6030:Setbp1	UTSW	18	78857711	missense	probably benign	0.02
R6030:Setbp1	UTSW	18	78857711	missense	probably benign	0.02
R6250:Setbp1	UTSW	18	78858002	missense	probably benign	0.00
R6256:Setbp1	UTSW	18	78857257	missense	probably damaging	1.00
R6332:Setbp1	UTSW	18	78783369	missense	probably benign	0.21
R6522:Setbp1	UTSW	18	78857390	missense	probably damaging	0.98
R6873:Setbp1	UTSW	18	78859559	missense	probably benign	0.00
R6886:Setbp1	UTSW	18	78857500	missense	probably damaging	1.00
R6986:Setbp1	UTSW	18	78857839	missense	probably damaging	1.00
R7042:Setbp1	UTSW	18	79086855	missense	probably damaging	1.00
R7131:Setbp1	UTSW	18	79086960	missense	probably benign	0.08
R7134:Setbp1	UTSW	18	78859519	missense	possibly damaging	0.86
R7215:Setbp1	UTSW	18	78856837	missense	probably damaging	0.97
R7219:Setbp1	UTSW	18	78755745	missense	probably damaging	1.00
R7378:Setbp1	UTSW	18	78857486	missense	probably damaging	1.00
R7461:Setbp1	UTSW	18	78856492	missense	probably benign	0.06
R7589:Setbp1	UTSW	18	78856492	missense	probably benign	0.01
R7840:Setbp1	UTSW	18	78783424	missense	probably benign	0.03
R7849:Setbp1	UTSW	18	78856853	missense	probably benign	0.00
R8147:Setbp1	UTSW	18	78856800	missense	probably damaging	1.00
R8354:Setbp1	UTSW	18	78857383	missense	probably damaging	1.00
R8446:Setbp1	UTSW	18	78857756	missense	probably damaging	1.00
R8524:Setbp1	UTSW	18	78858754	missense	probably damaging	1.00
R8534:Setbp1	UTSW	18	78783327	missense	possibly damaging	0.86
Z1088:Setbp1	UTSW	18	78859594	missense	probably damaging	0.98

Posted On

2016-08-02