Mutagenetix > Incidental Mutation

Incidental Mutation 'R7378:Setbp1'

572552

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

045460-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R7378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78750380-79109391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78857486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 989 (Y989N)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably damaging
Transcript: ENSMUST00000025430
AA Change: Y989N

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

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: Y989N

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (138/140)

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: 142 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	C	6: 128,546,247		probably null	Het
Aars	A	G	8: 111,042,342	Y258C	probably damaging	Het
Acaa2	A	T	18: 74,805,872	Y376F	probably benign	Het
Adcy1	C	T	11: 7,169,543	S1062F	possibly damaging	Het
Adgrb3	A	T	1: 25,531,919	C492*	probably null	Het
Adgrg6	A	G	10: 14,535,892	F22S	probably benign	Het
Adh1	A	G	3: 138,288,887		probably null	Het
Afm	T	A	5: 90,551,400	C568S	probably benign	Het
Ago4	C	T	4: 126,511,464	E439K	probably benign	Het
Aifm2	T	G	10: 61,727,717	V122G	possibly damaging	Het
Akap6	A	G	12: 53,142,574	N2257S	probably benign	Het
Ap3m2	A	G	8: 22,804,010	I8T	probably benign	Het
Apc2	C	A	10: 80,311,394	L761I	probably damaging	Het
Arntl	C	A	7: 113,299,208	T281K	probably benign	Het
Asap2	A	G	12: 21,112,051	D3G	probably benign	Het
Asna1	A	T	8: 85,019,863	F119I	probably benign	Het
Asxl1	T	C	2: 153,401,993	C1489R	probably damaging	Het
Atm	T	G	9: 53,453,437		probably null	Het
Bpifa6	C	A	2: 153,986,433	A153E	probably damaging	Het
Cav2	A	G	6: 17,282,060	T106A	probably benign	Het
Cavin4	A	G	4: 48,663,631	N4D	probably benign	Het
Cenpc1	T	C	5: 86,046,499	N136S	probably benign	Het
Cfap45	T	A	1: 172,538,343		probably null	Het
Col3a1	G	A	1: 45,327,647		probably null	Het
Crocc2	C	T	1: 93,194,087	L653F	probably damaging	Het
Cry2	A	G	2: 92,413,664	L388P	probably damaging	Het
Cstb	T	C	10: 78,426,988	F43S	probably damaging	Het
Ctcfl	A	G	2: 173,112,258	Y349H	probably damaging	Het
Ctu2	T	A	8: 122,481,499	V485D	probably damaging	Het
Cwc25	A	C	11: 97,747,997	L367R	possibly damaging	Het
Dock4	T	A	12: 40,788,244	H1061Q	possibly damaging	Het
Dpy19l3	C	A	7: 35,752,642	V26L	probably benign	Het
Dusp27	G	T	1: 166,112,063	S58*	probably null	Het
Elmo1	A	T	13: 20,280,935	I225F	probably benign	Het
Ep300	T	C	15: 81,650,545	S2268P	probably damaging	Het
F2r	C	T	13: 95,618,328	C16Y	probably damaging	Het
Fam126b	T	C	1: 58,530,034	K462R	probably benign	Het
Fbxo33	C	A	12: 59,204,371	E453*	probably null	Het
Flot1	A	T	17: 35,825,513	D186V	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Fras1	T	C	5: 96,596,785	C560R	probably damaging	Het
Gfi1	A	T	5: 107,723,229	S165T	possibly damaging	Het
Gli2	T	C	1: 118,848,492	D400G	probably damaging	Het
Gm11639	T	C	11: 104,714,702	I298T	probably benign	Het
Gm37240	T	A	3: 84,972,637		probably null	Het
Gml	C	T	15: 74,817,121	V27I	possibly damaging	Het
Htt	A	T	5: 34,803,799	I257F	probably benign	Het
Ier5	C	T	1: 155,098,692	V247M	probably damaging	Het
Ift46	C	T	9: 44,778,595		probably benign	Het
Il12b	A	G	11: 44,407,894	T59A	probably benign	Het
Insr	A	G	8: 3,198,231	L438P	probably damaging	Het
Iqgap2	C	T	13: 95,732,890		probably null	Het
Irx4	A	T	13: 73,267,553	T154S	possibly damaging	Het
Itgbl1	A	G	14: 123,857,489	K309E	probably benign	Het
Kcns2	T	A	15: 34,839,703	L404*	probably null	Het
Kif2c	T	C	4: 117,162,029	E644G	possibly damaging	Het
Klhl22	T	C	16: 17,776,805	L266P	probably damaging	Het
Krt71	T	A	15: 101,738,329	K315*	probably null	Het
Lca5	T	C	9: 83,395,530	N587S	probably benign	Het
Lrp1b	T	A	2: 41,295,669	M1459L		Het
Lrrtm2	T	C	18: 35,213,592	K219R	probably damaging	Het
Mcmbp	T	C	7: 128,704,517	D459G	probably damaging	Het
Megf8	A	G	7: 25,348,942	H1680R	probably damaging	Het
Mia3	A	G	1: 183,334,775	S301P	probably benign	Het
Mtrr	A	G	13: 68,564,402	Y622H	probably damaging	Het
Myo7b	T	A	18: 31,966,239	Q1710L	probably damaging	Het
Nab1	T	C	1: 52,480,995	N276D	probably damaging	Het
Nalcn	C	T	14: 123,302,890	R1127H	probably damaging	Het
Nbas	T	A	12: 13,274,219	I110N	probably damaging	Het
Nfe2l3	C	T	6: 51,457,296	Q279*	probably null	Het
Nlrp9c	C	T	7: 26,365,015	E963K	probably benign	Het
Nsmaf	A	G	4: 6,416,586	V569A	probably benign	Het
Olfr1066	T	C	2: 86,456,068	T68A	probably benign	Het
Olfr1338	T	C	4: 118,754,175	Y123C	possibly damaging	Het
Olfr199	T	A	16: 59,215,920	D231V	probably benign	Het
Olfr273	C	T	4: 52,856,421	V31I	probably benign	Het
Olfr481	T	C	7: 108,081,192	S133P	not run	Het
Olfr669	A	T	7: 104,939,431	I302F	probably benign	Het
Olfr69	T	A	7: 103,767,930	I156F	probably benign	Het
Olfr851	T	A	9: 19,497,102	M118K	probably damaging	Het
Olfr857	A	T	9: 19,712,887	D20V	probably damaging	Het
Olfr933	T	A	9: 38,975,721	V15E	probably benign	Het
Paf1	A	G	7: 28,396,928	Y322C	probably damaging	Het
Pcdha2	C	A	18: 36,939,385	A23D	possibly damaging	Het
Pcdhb6	G	A	18: 37,335,172	C382Y	probably damaging	Het
Pdzd7	C	T	19: 45,045,606	G13D	probably damaging	Het
Pik3r2	T	C	8: 70,769,381	N586S	probably benign	Het
Pik3r3	T	A	4: 116,270,830	D119E	probably benign	Het
Pkd2l1	T	A	19: 44,153,715	I535F	probably benign	Het
Ppfia3	T	C	7: 45,361,446		probably null	Het
Ppl	T	A	16: 5,112,996	Q53L	possibly damaging	Het
Rimbp3	T	G	16: 17,211,204	S831A	probably benign	Het
Rnps1	A	G	17: 24,418,530	T49A	unknown	Het
Rpl7a	T	A	2: 26,912,007		probably null	Het
Rrm2b	T	A	15: 37,931,647	E248D	probably benign	Het
Sdhaf4	A	G	1: 23,996,358	F70L	probably damaging	Het
Sel1l3	A	T	5: 53,116,409	S1038R	probably benign	Het
Selenoo	T	A	15: 89,089,478	F124I	probably benign	Het
Slc1a7	A	G	4: 108,002,203	E163G	possibly damaging	Het
Slc22a2	T	C	17: 12,612,391	F356S	probably damaging	Het
Slc24a4	C	T	12: 102,239,176	P378L	probably benign	Het
Slc4a1ap	A	G	5: 31,527,527	D169G	probably benign	Het
Slc4a7	T	A	14: 14,757,421	V422D	probably damaging	Het
Slitrk6	T	C	14: 110,749,863	Y804C	probably damaging	Het
Smarcad1	T	A	6: 65,110,376	H906Q	probably benign	Het
Smn1	A	G	13: 100,127,865	T109A	probably damaging	Het
Sntb2	A	G	8: 106,981,312	N236S	probably damaging	Het
Spag9	T	A	11: 94,114,351		probably null	Het
Spg11	C	A	2: 122,058,429	G2154W	probably damaging	Het
Srsf6	T	C	2: 162,934,569	S278P	unknown	Het
Stag3	G	A	5: 138,281,960	R29H	probably benign	Het
Stambp	C	T	6: 83,563,906	V98I	not run	Het
Suco	T	C	1: 161,862,211	D89G	possibly damaging	Het
Suox	C	T	10: 128,671,041	V373I	probably benign	Het
Sv2b	T	A	7: 75,147,728		probably null	Het
Tatdn2	T	C	6: 113,704,701	L565P	probably damaging	Het
Tbpl2	T	A	2: 24,094,700	E145V	probably benign	Het
Tlr1	T	C	5: 64,925,228	I669V	not run	Het
Tmc1	A	T	19: 20,868,389	F157I	probably damaging	Het
Tmem26	T	G	10: 68,724,092		probably null	Het
Tmem33	A	T	5: 67,286,133	I218F	probably benign	Het
Tmem94	T	A	11: 115,794,174	D862E	probably damaging	Het
Tnr	T	C	1: 159,884,862		probably null	Het
Tnrc6c	T	C	11: 117,741,780	S1103P	probably benign	Het
Tomm70a	T	A	16: 57,146,044	Y453*	probably null	Het
Trabd	C	A	15: 89,085,290	R229S	possibly damaging	Het
Trappc10	T	C	10: 78,193,418	D1095G	probably damaging	Het
Trim27	A	G	13: 21,192,461	T460A	possibly damaging	Het
Tsen54	T	G	11: 115,821,705	D433E	probably benign	Het
Ubap2	A	G	4: 41,235,515		probably null	Het
Vat1l	A	T	8: 114,289,392	N341Y	possibly damaging	Het
Vmn2r82	C	G	10: 79,396,442	Y758*	probably null	Het
Vps16	T	G	2: 130,438,179	V108G	probably damaging	Het
Vps53	T	A	11: 76,077,074	I585F	possibly damaging	Het
Wrnip1	G	A	13: 32,816,281	V424M	probably benign	Het
Yif1a	G	A	19: 5,089,790	V88M	possibly damaging	Het
Zfat	T	C	15: 68,181,120	Y275C	probably damaging	Het
Zfhx3	A	G	8: 108,793,248	E334G	probably damaging	Het
Zfp277	T	C	12: 40,315,853	D539G	possibly damaging	Het
Zfp292	A	T	4: 34,808,384	N1558K	probably benign	Het
Zfp3	A	G	11: 70,772,073	K286R	probably benign	Het
Zfp366	T	C	13: 99,229,515	C395R	probably damaging	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
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
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
R9680:Setbp1	UTSW	18	78859283	missense	probably benign
R9711:Setbp1	UTSW	18	78856927	missense	probably benign	0.30
Z1088:Setbp1	UTSW	18	78859594	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTAAGGCATTCCATAGGGTGC -3'
(R):5'- CATTGTGGACACTTTTCTGGCC -3'

Sequencing Primer
(F):5'- AGGGTGCATAGTAACTTCCACTG -3'
(R):5'- ACTTTTCTGGCCCACGAAAG -3'

Posted On

2019-09-13