Mutagenetix > Incidental Mutation

Incidental Mutation 'R6250:Setbp1'

505943

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

044367-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.603) question?

Stock #

R6250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78750380-79109391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78858002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 817 (T817A)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably benign
Transcript: ENSMUST00000025430
AA Change: T817A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: T817A

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

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	A	7: 28,150,714	G1195D	probably damaging	Het
Abhd12	T	C	2: 150,839,747	Y241C	probably damaging	Het
Ak9	T	C	10: 41,389,034	V929A	possibly damaging	Het
Ap3s1	T	C	18: 46,754,447	F49S	probably damaging	Het
Atp9b	T	C	18: 80,756,521	H801R	probably benign	Het
B430218F22Rik	A	G	13: 118,387,408		probably benign	Het
BC030867	A	G	11: 102,255,062	T55A	probably benign	Het
Ccnd3	T	A	17: 47,597,562	L186*	probably null	Het
Cnbd1	T	A	4: 19,098,255	Q55L	probably benign	Het
Commd10	A	G	18: 46,963,688	E54G	probably damaging	Het
D6Ertd527e	G	A	6: 87,111,212	G119D	unknown	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Disp2	A	T	2: 118,790,766	I660F	probably damaging	Het
Eef1a2	A	G	2: 181,151,060	F211L	possibly damaging	Het
Epb41	A	T	4: 131,989,873	F323L	probably damaging	Het
Eps8l3	A	T	3: 107,890,465	I403F	probably benign	Het
Ercc5	T	A	1: 44,164,049	V282D	probably damaging	Het
Faim	A	T	9: 98,992,123	M1L	probably benign	Het
Fbxo24	A	G	5: 137,621,281	F111L	probably damaging	Het
Glrx	A	T	13: 75,840,110	I48F	probably damaging	Het
Gucy2g	A	T	19: 55,217,424	L668Q	probably damaging	Het
Hectd4	A	G	5: 121,339,498	D2828G	possibly damaging	Het
Hivep2	T	C	10: 14,131,759	V1367A	probably benign	Het
Ipo13	A	G	4: 117,912,154	V147A	possibly damaging	Het
Jchain	T	C	5: 88,526,175	T37A	probably benign	Het
Kif1b	A	G	4: 149,213,643	V1034A	probably benign	Het
Krt25	T	A	11: 99,321,163	N216I	probably damaging	Het
Lman1l	A	G	9: 57,615,624	V151A	probably benign	Het
Mfsd4b1	T	C	10: 40,003,110	S264G	possibly damaging	Het
Mxra8	G	T	4: 155,841,089	R82L	possibly damaging	Het
Nlrp1b	A	T	11: 71,181,799	I406N	probably benign	Het
Olfr1381	A	T	11: 49,551,884	I46F	probably damaging	Het
Olfr155	T	C	4: 43,854,363	L18P	possibly damaging	Het
Olfr191	G	A	16: 59,085,832	S217F	probably damaging	Het
Pak7	T	C	2: 136,174,269		probably benign	Het
Pcsk4	T	C	10: 80,325,592	R222G	probably benign	Het
Pik3cb	A	C	9: 99,094,598	F149V	probably benign	Het
Plscr4	G	A	9: 92,484,828	R165Q	possibly damaging	Het
Ppp2r2a	A	T	14: 67,038,954	V34E	probably damaging	Het
Prpf8	T	G	11: 75,493,508	S659R	possibly damaging	Het
Ptprd	A	G	4: 76,128,995	S342P	probably damaging	Het
Pum2	T	C	12: 8,744,755		probably null	Het
Ranbp3	T	G	17: 56,677,208		probably null	Het
Rassf7	A	G	7: 141,217,243	E123G	probably damaging	Het
Rcor1	G	T	12: 111,111,877	A469S	probably benign	Het
Rcor3	G	T	1: 192,100,896	P524Q	probably damaging	Het
Rnf44	A	T	13: 54,682,107		probably null	Het
Rtf1	T	C	2: 119,675,177	V37A	unknown	Het
Sdc4	A	T	2: 164,431,218	D57E	probably damaging	Het
Setd1a	A	G	7: 127,791,299	E506G	unknown	Het
Slc30a8	G	A	15: 52,335,149	R330Q	probably benign	Het
Snx22	C	A	9: 66,069,641	E14*	probably null	Het
Spata31d1a	A	G	13: 59,701,801	S838P	possibly damaging	Het
Sprr4	G	T	3: 92,500,463	Q11K	unknown	Het
Trpm3	A	G	19: 22,910,054	N839S	probably benign	Het
Vps9d1	T	C	8: 123,248,208		probably null	Het
Vwa3b	T	C	1: 37,051,885		probably null	Het
Ythdf1	T	C	2: 180,911,100	T414A	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		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
IGL03123:Setbp1	APN	18	78857009	missense	probably damaging	1.00
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
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
R8694:Setbp1	UTSW	18	78858301	missense	probably damaging	1.00
R8931:Setbp1	UTSW	18	78856508	missense	probably benign	0.00
R8983:Setbp1	UTSW	18	78859244	missense	probably benign	0.37
R9062:Setbp1	UTSW	18	78857051	missense	probably benign	0.01
R9113:Setbp1	UTSW	18	78857733	missense	probably damaging	0.99
R9364:Setbp1	UTSW	18	78783384	missense	probably benign	0.00
R9513:Setbp1	UTSW	18	78856566	missense	probably damaging	1.00
R9517:Setbp1	UTSW	18	78858107	missense	probably damaging	0.99
R9549:Setbp1	UTSW	18	78859414	missense	probably benign	0.07
R9554:Setbp1	UTSW	18	78783384	missense	probably benign	0.00
Z1088:Setbp1	UTSW	18	78859594	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTGGGTTGTCAAGGGAACAG -3'
(R):5'- GCTTCTTCACCAGCAGCTATG -3'

Sequencing Primer
(F):5'- GTCGAAAGAGTACCTCCGC -3'
(R):5'- TATGCACCCACTCTCAACACAGTTAG -3'

Posted On

2018-02-28