Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02725:Setbp1'

305163

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.625) question?

Stock #

IGL02725

Quality Score

Status

Chromosome

Chromosomal Location

78793595-79152606 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 78900589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 1026 (L1026*)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably null
Transcript: ENSMUST00000025430
AA Change: L1026*

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: L1026*

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,611,445 (GRCm39)	I414T	possibly damaging	Het
Agpat3	A	C	10: 78,113,889 (GRCm39)	D266E	probably benign	Het
Alpk3	G	T	7: 80,743,358 (GRCm39)	Q1058H	possibly damaging	Het
Atat1	A	T	17: 36,220,381 (GRCm39)	V37E	probably benign	Het
Bcl6b	A	G	11: 70,119,344 (GRCm39)	V124A	probably damaging	Het
Bmt2	T	C	6: 13,628,495 (GRCm39)	E396G	probably damaging	Het
Ccdc50	T	C	16: 27,255,347 (GRCm39)	C237R	probably benign	Het
Chd9	A	G	8: 91,778,312 (GRCm39)	I2790M	possibly damaging	Het
Chkb	A	G	15: 89,313,340 (GRCm39)	L82P	probably damaging	Het
Cit	T	C	5: 116,123,532 (GRCm39)	Y1458H	probably benign	Het
Clp1	T	A	2: 84,554,208 (GRCm39)	K320N	probably benign	Het
Cry2	T	C	2: 92,243,605 (GRCm39)		probably benign	Het
Cyp20a1	C	T	1: 60,405,865 (GRCm39)	R220W	probably benign	Het
Cyp27a1	C	T	1: 74,774,862 (GRCm39)	P268S	probably damaging	Het
Cyp2e1	T	G	7: 140,343,828 (GRCm39)	I22S	probably null	Het
Defb34	A	G	8: 19,173,774 (GRCm39)	T3A	unknown	Het
Dpy19l3	A	T	7: 35,411,343 (GRCm39)	M422K	probably benign	Het
Eif4g3	A	T	4: 137,897,782 (GRCm39)		probably benign	Het
Elmod3	A	G	6: 72,571,758 (GRCm39)	S7P	probably damaging	Het
Fam151a	T	G	4: 106,605,211 (GRCm39)	S524R	probably damaging	Het
Gcc1	A	T	6: 28,418,458 (GRCm39)	V625E	probably benign	Het
Glmn	G	A	5: 107,723,155 (GRCm39)	P112S	possibly damaging	Het
Grm5	A	C	7: 87,723,873 (GRCm39)	D721A	probably damaging	Het
Hivep3	T	C	4: 119,953,019 (GRCm39)	V445A	possibly damaging	Het
Hmcn1	T	A	1: 150,480,654 (GRCm39)	E4507D	possibly damaging	Het
Hmcn2	A	C	2: 31,295,540 (GRCm39)	E2583A	probably damaging	Het
Ifnb1	T	A	4: 88,440,867 (GRCm39)	I49F	probably benign	Het
Ints8	A	C	4: 11,239,406 (GRCm39)	C306W	probably benign	Het
Jakmip2	A	G	18: 43,695,655 (GRCm39)	S540P	probably damaging	Het
Kctd1	A	G	18: 15,102,667 (GRCm39)	V838A	possibly damaging	Het
Klk10	T	C	7: 43,431,044 (GRCm39)	L29P	probably damaging	Het
Lyst	T	A	13: 13,935,412 (GRCm39)	I3627K	probably damaging	Het
Maml3	A	G	3: 52,011,195 (GRCm39)	S124P	probably damaging	Het
Nav2	A	T	7: 49,214,843 (GRCm39)	K1632I	probably damaging	Het
Or2ab1	T	C	11: 58,488,690 (GRCm39)	V156A	probably benign	Het
Pde2a	G	T	7: 101,156,425 (GRCm39)	M616I	probably null	Het
Pdia2	T	C	17: 26,415,506 (GRCm39)	D440G	probably benign	Het
Rab11fip5	A	G	6: 85,351,471 (GRCm39)	S14P	probably damaging	Het
Rhpn2	T	C	7: 35,079,031 (GRCm39)	S383P	probably damaging	Het
Rnf220	A	G	4: 117,129,576 (GRCm39)		probably benign	Het
Rnf43	A	G	11: 87,622,411 (GRCm39)	D504G	probably damaging	Het
Slc1a4	A	T	11: 20,258,408 (GRCm39)	S264T	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptan1	T	C	2: 29,886,055 (GRCm39)	I739T	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stat5b	A	T	11: 100,695,840 (GRCm39)	D47E	possibly damaging	Het
Taar7b	A	T	10: 23,875,961 (GRCm39)	Y42F	probably benign	Het
Tfdp2	T	A	9: 96,169,748 (GRCm39)	I33K	possibly damaging	Het
Tm4sf5	A	G	11: 70,401,448 (GRCm39)	H149R	probably benign	Het
Tmco6	A	G	18: 36,871,760 (GRCm39)	M257V	probably benign	Het
Tuba8	G	T	6: 121,202,916 (GRCm39)	G410*	probably null	Het
Ubd	T	A	17: 37,504,853 (GRCm39)	V4D	probably benign	Het
Ugt2b34	C	T	5: 87,054,284 (GRCm39)	V166I	probably benign	Het
Vmn2r70	C	T	7: 85,214,553 (GRCm39)	V200I	possibly damaging	Het
Wdcp	A	T	12: 4,901,206 (GRCm39)	N354I	probably damaging	Het
Wipi2	A	T	5: 142,652,618 (GRCm39)	Y410F	possibly damaging	Het
Zc3hav1	G	T	6: 38,309,127 (GRCm39)	P565Q	probably damaging	Het
Zfp398	T	C	6: 47,842,737 (GRCm39)	V131A	probably benign	Het
Zkscan3	T	C	13: 21,579,063 (GRCm39)	D144G	possibly damaging	Het
Zpbp	T	A	11: 11,412,358 (GRCm39)		probably benign	Het

Other mutations in Setbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Setbp1	APN	18	78,798,894 (GRCm39)	nonsense	probably null	0.00
IGL00668:Setbp1	APN	18	78,900,985 (GRCm39)	missense	probably damaging	1.00
IGL01628:Setbp1	APN	18	78,899,992 (GRCm39)	missense	probably damaging	1.00
IGL02084:Setbp1	APN	18	78,900,625 (GRCm39)	missense	probably damaging	1.00
IGL02405:Setbp1	APN	18	78,900,514 (GRCm39)	missense	probably damaging	1.00
IGL02427:Setbp1	APN	18	78,900,688 (GRCm39)	missense	probably damaging	1.00
IGL02612:Setbp1	APN	18	78,798,925 (GRCm39)	missense	probably damaging	1.00
IGL03005:Setbp1	APN	18	78,902,340 (GRCm39)	missense	possibly damaging	0.75
IGL03123:Setbp1	APN	18	78,900,224 (GRCm39)	missense	probably damaging	1.00
R1083:Setbp1	UTSW	18	78,900,841 (GRCm39)	missense	probably damaging	1.00
R1110:Setbp1	UTSW	18	78,901,075 (GRCm39)	missense	probably damaging	1.00
R1167:Setbp1	UTSW	18	78,900,451 (GRCm39)	missense	possibly damaging	0.85
R1221:Setbp1	UTSW	18	78,899,798 (GRCm39)	missense	probably damaging	1.00
R1225:Setbp1	UTSW	18	78,901,423 (GRCm39)	missense	probably damaging	0.99
R1327:Setbp1	UTSW	18	78,826,573 (GRCm39)	missense	probably benign	0.00
R1481:Setbp1	UTSW	18	78,826,516 (GRCm39)	missense	probably benign	0.01
R1482:Setbp1	UTSW	18	79,130,050 (GRCm39)	missense	probably damaging	1.00
R1496:Setbp1	UTSW	18	78,903,127 (GRCm39)	missense	probably damaging	1.00
R1550:Setbp1	UTSW	18	78,901,807 (GRCm39)	missense	probably damaging	1.00
R1708:Setbp1	UTSW	18	78,901,682 (GRCm39)	missense	probably damaging	0.99
R1751:Setbp1	UTSW	18	78,900,613 (GRCm39)	missense	probably damaging	1.00
R1922:Setbp1	UTSW	18	78,901,577 (GRCm39)	missense	possibly damaging	0.75
R1986:Setbp1	UTSW	18	78,901,759 (GRCm39)	missense	probably damaging	0.99
R2090:Setbp1	UTSW	18	78,899,935 (GRCm39)	missense	probably benign	0.00
R2851:Setbp1	UTSW	18	78,967,211 (GRCm39)	missense	probably benign	0.11
R2853:Setbp1	UTSW	18	78,967,211 (GRCm39)	missense	probably benign	0.11
R2941:Setbp1	UTSW	18	78,901,412 (GRCm39)	missense	probably damaging	1.00
R3151:Setbp1	UTSW	18	78,900,650 (GRCm39)	missense	probably damaging	1.00
R3156:Setbp1	UTSW	18	78,902,518 (GRCm39)	missense	probably benign	0.00
R3807:Setbp1	UTSW	18	78,826,537 (GRCm39)	missense	probably benign	0.01
R4133:Setbp1	UTSW	18	78,900,206 (GRCm39)	missense	probably benign	0.05
R4287:Setbp1	UTSW	18	78,902,276 (GRCm39)	missense	probably benign	0.03
R4345:Setbp1	UTSW	18	79,129,794 (GRCm39)	missense	probably damaging	0.99
R4374:Setbp1	UTSW	18	78,903,137 (GRCm39)	missense	probably damaging	0.97
R4377:Setbp1	UTSW	18	78,903,137 (GRCm39)	missense	probably damaging	0.97
R4378:Setbp1	UTSW	18	78,899,833 (GRCm39)	missense	possibly damaging	0.95
R4379:Setbp1	UTSW	18	79,129,896 (GRCm39)	missense	probably damaging	1.00
R4585:Setbp1	UTSW	18	79,130,164 (GRCm39)	missense	probably benign	0.00
R4595:Setbp1	UTSW	18	78,900,731 (GRCm39)	missense	probably benign	0.00
R4817:Setbp1	UTSW	18	78,902,015 (GRCm39)	missense	probably damaging	1.00
R4971:Setbp1	UTSW	18	78,901,382 (GRCm39)	missense	probably benign	0.07
R4976:Setbp1	UTSW	18	79,129,927 (GRCm39)	missense	probably damaging	1.00
R5017:Setbp1	UTSW	18	78,899,809 (GRCm39)	missense	possibly damaging	0.81
R5066:Setbp1	UTSW	18	78,900,514 (GRCm39)	missense	probably damaging	1.00
R5133:Setbp1	UTSW	18	78,900,697 (GRCm39)	missense	probably damaging	1.00
R5151:Setbp1	UTSW	18	78,901,214 (GRCm39)	missense	probably damaging	1.00
R5237:Setbp1	UTSW	18	78,900,190 (GRCm39)	missense	possibly damaging	0.92
R5480:Setbp1	UTSW	18	78,901,278 (GRCm39)	missense	probably damaging	0.99
R5507:Setbp1	UTSW	18	79,129,927 (GRCm39)	missense	probably damaging	1.00
R5529:Setbp1	UTSW	18	79,129,867 (GRCm39)	missense	probably damaging	0.99
R5622:Setbp1	UTSW	18	78,900,700 (GRCm39)	missense	probably damaging	1.00
R5722:Setbp1	UTSW	18	78,899,860 (GRCm39)	missense	possibly damaging	0.95
R5806:Setbp1	UTSW	18	78,899,697 (GRCm39)	splice site	probably null
R5940:Setbp1	UTSW	18	78,798,703 (GRCm39)	missense	probably damaging	1.00
R6025:Setbp1	UTSW	18	78,902,455 (GRCm39)	missense	probably damaging	0.98
R6030:Setbp1	UTSW	18	78,900,926 (GRCm39)	missense	probably benign	0.02
R6030:Setbp1	UTSW	18	78,900,926 (GRCm39)	missense	probably benign	0.02
R6250:Setbp1	UTSW	18	78,901,217 (GRCm39)	missense	probably benign	0.00
R6256:Setbp1	UTSW	18	78,900,472 (GRCm39)	missense	probably damaging	1.00
R6332:Setbp1	UTSW	18	78,826,584 (GRCm39)	missense	probably benign	0.21
R6522:Setbp1	UTSW	18	78,900,605 (GRCm39)	missense	probably damaging	0.98
R6873:Setbp1	UTSW	18	78,902,774 (GRCm39)	missense	probably benign	0.00
R6886:Setbp1	UTSW	18	78,900,715 (GRCm39)	missense	probably damaging	1.00
R6986:Setbp1	UTSW	18	78,901,054 (GRCm39)	missense	probably damaging	1.00
R7042:Setbp1	UTSW	18	79,130,070 (GRCm39)	missense	probably damaging	1.00
R7131:Setbp1	UTSW	18	79,130,175 (GRCm39)	missense	probably benign	0.08
R7134:Setbp1	UTSW	18	78,902,734 (GRCm39)	missense	possibly damaging	0.86
R7215:Setbp1	UTSW	18	78,900,052 (GRCm39)	missense	probably damaging	0.97
R7219:Setbp1	UTSW	18	78,798,960 (GRCm39)	missense	probably damaging	1.00
R7378:Setbp1	UTSW	18	78,900,701 (GRCm39)	missense	probably damaging	1.00
R7461:Setbp1	UTSW	18	78,899,707 (GRCm39)	missense	probably benign	0.06
R7589:Setbp1	UTSW	18	78,899,707 (GRCm39)	missense	probably benign	0.01
R7840:Setbp1	UTSW	18	78,826,639 (GRCm39)	missense	probably benign	0.03
R7849:Setbp1	UTSW	18	78,900,068 (GRCm39)	missense	probably benign	0.00
R8147:Setbp1	UTSW	18	78,900,015 (GRCm39)	missense	probably damaging	1.00
R8354:Setbp1	UTSW	18	78,900,598 (GRCm39)	missense	probably damaging	1.00
R8446:Setbp1	UTSW	18	78,900,971 (GRCm39)	missense	probably damaging	1.00
R8524:Setbp1	UTSW	18	78,901,969 (GRCm39)	missense	probably damaging	1.00
R8534:Setbp1	UTSW	18	78,826,542 (GRCm39)	missense	possibly damaging	0.86
R8694:Setbp1	UTSW	18	78,901,516 (GRCm39)	missense	probably damaging	1.00
R8931:Setbp1	UTSW	18	78,899,723 (GRCm39)	missense	probably benign	0.00
R8983:Setbp1	UTSW	18	78,902,459 (GRCm39)	missense	probably benign	0.37
R9062:Setbp1	UTSW	18	78,900,266 (GRCm39)	missense	probably benign	0.01
R9113:Setbp1	UTSW	18	78,900,948 (GRCm39)	missense	probably damaging	0.99
R9364:Setbp1	UTSW	18	78,826,599 (GRCm39)	missense	probably benign	0.00
R9513:Setbp1	UTSW	18	78,899,781 (GRCm39)	missense	probably damaging	1.00
R9517:Setbp1	UTSW	18	78,901,322 (GRCm39)	missense	probably damaging	0.99
R9549:Setbp1	UTSW	18	78,902,629 (GRCm39)	missense	probably benign	0.07
R9554:Setbp1	UTSW	18	78,826,599 (GRCm39)	missense	probably benign	0.00
R9680:Setbp1	UTSW	18	78,902,498 (GRCm39)	missense	probably benign
R9711:Setbp1	UTSW	18	78,900,142 (GRCm39)	missense	probably benign	0.30
Z1088:Setbp1	UTSW	18	78,902,809 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16