Mutagenetix > Incidental Mutations

Incidental Mutation 'R1550:Setbp1'

169884

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

039589-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.718) question?

Stock #

R1550 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78750380-79109391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78858592 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 620 (L620Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025430
AA Change: L620Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: L620Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161465
AA Change: L620Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124497
Gene: ENSMUSG00000024548
AA Change: L620Q

Domain	Start	End	E-Value	Type
low complexity region	46	55	N/A	INTRINSIC
low complexity region	202	212	N/A	INTRINSIC
low complexity region	268	298	N/A	INTRINSIC
low complexity region	325	333	N/A	INTRINSIC
AT_hook	575	587	4.64e-1	SMART
low complexity region	612	618	N/A	INTRINSIC
low complexity region	641	664	N/A	INTRINSIC
low complexity region	925	934	N/A	INTRINSIC
AT_hook	1007	1019	1.89e-1	SMART
low complexity region	1133	1150	N/A	INTRINSIC
low complexity region	1363	1384	N/A	INTRINSIC
AT_hook	1440	1452	7.27e-1	SMART
low complexity region	1509	1533	N/A	INTRINSIC
low complexity region	1545	1561	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019	W144C	probably benign	Het
Abcc6	A	G	7: 46,005,244	V551A	probably benign	Het
Acss1	A	T	2: 150,642,795	L176Q	probably damaging	Het
Aldh7a1	A	G	18: 56,550,382	I117T	possibly damaging	Het
Arf5	C	T	6: 28,426,153	R180C	probably damaging	Het
Arhgap21	A	T	2: 20,881,765	Y39*	probably null	Het
Arrdc1	A	G	2: 24,926,339	L206P	probably damaging	Het
Cby3	A	T	11: 50,359,486	Y173F	probably damaging	Het
Cdh18	T	A	15: 23,436,548	C497S	probably damaging	Het
Cyp11b2	T	C	15: 74,853,593	I226V	probably benign	Het
Ddit4l	T	A	3: 137,624,275		probably null	Het
Ddx11	C	T	17: 66,138,220	T405I	probably benign	Het
Dhx40	A	T	11: 86,776,739		probably null	Het
Dlgap2	A	G	8: 14,822,499	D659G	probably damaging	Het
Eef2	A	G	10: 81,180,847	E586G	probably benign	Het
Fam161a	A	G	11: 23,020,470	Q216R	possibly damaging	Het
Fbxw24	G	T	9: 109,607,044	R307S	probably benign	Het
Gbp2b	G	T	3: 142,606,830	A325S	probably damaging	Het
Gli1	A	T	10: 127,338,516	F2Y	probably damaging	Het
Gm7075	A	G	10: 63,421,648	L31P	probably damaging	Het
Gnl2	T	C	4: 125,044,234	V269A	probably damaging	Het
Grin1	A	G	2: 25,305,131	V292A	probably benign	Het
Heg1	T	A	16: 33,735,553	V1001E	probably damaging	Het
Herc2	T	A	7: 56,135,658	I1552N	probably damaging	Het
Htr1a	A	G	13: 105,445,280	T343A	probably benign	Het
Itk	G	T	11: 46,389,326	R29S	probably damaging	Het
Ivns1abp	G	T	1: 151,361,491	G469C	probably damaging	Het
Jph3	A	T	8: 121,784,859	N529Y	possibly damaging	Het
Kdm2b	A	G	5: 122,881,057	L829P	probably damaging	Het
Kprp	T	A	3: 92,824,726	Y339F	probably damaging	Het
Lrp2	A	G	2: 69,502,661	V1504A	possibly damaging	Het
Lypd6b	A	G	2: 49,943,603	D85G	probably damaging	Het
Mansc4	T	C	6: 147,075,638	Y160C	probably damaging	Het
Mgll	C	A	6: 88,813,889	H164N	probably benign	Het
Mtmr4	A	T	11: 87,613,516	D1097V	probably damaging	Het
Nfasc	T	C	1: 132,608,503	K571E	probably damaging	Het
Nfat5	A	T	8: 107,370,573	N1527Y	probably damaging	Het
Nlgn1	A	G	3: 25,912,644	L215P	probably damaging	Het
Olfr6	T	A	7: 106,956,028	I303L	probably benign	Het
Pde4dip	T	C	3: 97,719,704	S1173G	probably damaging	Het
Prrt3	A	T	6: 113,495,507	V568E	probably damaging	Het
Ptpra	G	A	2: 130,541,393	R503Q	possibly damaging	Het
Sema5a	G	A	15: 32,618,849	A508T	probably benign	Het
Serpinb11	T	C	1: 107,379,688	I283T	possibly damaging	Het
Sipa1l3	A	T	7: 29,383,203	C756S	probably benign	Het
Sirpa	A	T	2: 129,630,041	I463F	probably damaging	Het
Slc13a2	G	T	11: 78,403,164	N257K	probably damaging	Het
Slc4a5	C	A	6: 83,271,057	T530N	probably damaging	Het
Stab2	A	T	10: 86,878,926	F125L	probably benign	Het
Tet2	G	T	3: 133,469,519	Q1356K	probably benign	Het
Tet3	A	T	6: 83,386,028	S856T	probably damaging	Het
Tg	C	T	15: 66,693,430	T1207I	possibly damaging	Het
Tkt	A	G	14: 30,565,568	Y173C	probably damaging	Het
Tlr6	T	A	5: 64,953,411	I718F	probably damaging	Het
Tnfrsf11b	A	G	15: 54,254,058	V267A	possibly damaging	Het
Ubqln3	T	A	7: 104,141,546	N446Y	probably damaging	Het
Vmn2r118	C	T	17: 55,608,083	C521Y	probably damaging	Het
Vps16	A	G	2: 130,440,340	D394G	probably benign	Het
Zfp236	A	T	18: 82,674,424	M142K	possibly damaging	Het
Zfp780b	T	C	7: 27,964,857	D91G	probably benign	Het
Zfp97	T	A	17: 17,145,206	Y322*	probably null	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
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	unclassified	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
R7923:Setbp1	UTSW	18	78783424	missense	probably benign	0.03
R7932:Setbp1	UTSW	18	78856853	missense	probably benign	0.00
Z1088:Setbp1	UTSW	18	78859594	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTTTCGATAGATGCTGCCCCAGG -3'
(R):5'- GGAACGCTGAAAAGATTGTCCCCG -3'

Sequencing Primer
(F):5'- TTTAGGGCCACGCTGCTG -3'
(R):5'- CTTCGAGAGGCAGTCTTAGCTAC -3'

Posted On

2014-04-13