Mutagenetix > Incidental Mutation

Incidental Mutation 'R9364:Setbp1'

708873

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.516) question?

Stock #

R9364 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78750380-79109391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78783384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1338 (S1338N)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably benign
Transcript: ENSMUST00000025430
AA Change: S1338N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: S1338N

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: 99.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Ankrd17	C	T	5: 90,268,649	R1108Q	probably damaging	Het
Ccdc136	C	T	6: 29,405,961	A102V	probably damaging	Het
Ccnyl1	A	G	1: 64,714,591	Y187C	probably damaging	Het
Copa	G	A	1: 172,117,264	V882I	probably benign	Het
Cyp17a1	C	T	19: 46,668,726	R361H	probably damaging	Het
Ddx49	T	C	8: 70,293,576	T459A	probably benign	Het
Depdc5	A	G	5: 32,964,732	N1133S	probably benign	Het
Dnajc18	T	C	18: 35,675,207	D329G	probably damaging	Het
Dusp16	G	A	6: 134,719,019	P283L	probably damaging	Het
Efcab12	A	G	6: 115,838,014	V40A	probably benign	Het
Emb	G	T	13: 117,220,560		probably benign	Het
Fam120b	G	A	17: 15,405,758	A458T	possibly damaging	Het
Fgd4	G	A	16: 16,490,489	T9I	probably benign	Het
Hivep1	G	A	13: 42,154,775	D164N	possibly damaging	Het
Klf13	T	A	7: 63,924,861		probably benign	Het
Lrrc47	T	C	4: 154,015,941	S325P	possibly damaging	Het
Mast3	C	T	8: 70,786,182	V493M	probably damaging	Het
Med22	T	C	2: 26,905,809	T200A	probably benign	Het
Mettl15	T	A	2: 109,131,615	Q216H	probably benign	Het
Mmel1	A	G	4: 154,892,510	D561G	probably null	Het
Ms4a4a	G	A	19: 11,390,344	M191I	probably benign	Het
Myh11	T	A	16: 14,200,716	N1922I		Het
Myo7b	T	C	18: 32,000,360	I371V	probably benign	Het
Myo9b	T	C	8: 71,355,839	S1697P	probably damaging	Het
Neurod4	T	C	10: 130,270,971	T145A	probably benign	Het
Nfx1	T	C	4: 41,023,756	V1055A	probably benign	Het
Ntng1	C	T	3: 110,135,364	A49T	probably damaging	Het
Oc90	G	A	15: 65,889,588	P194S	probably benign	Het
Olfr1087	A	T	2: 86,690,231	V248D	possibly damaging	Het
Olfr1375	T	A	11: 51,048,396	Y96*	probably null	Het
Olfr169	T	A	16: 19,565,972	I304F	possibly damaging	Het
Olfr446	T	A	6: 42,927,600	I123N	probably damaging	Het
Opcml	A	C	9: 28,903,328	N292T	probably damaging	Het
Oplah	A	G	15: 76,309,587	S57P	probably benign	Het
Pdzd8	A	T	19: 59,345,142	L149Q	probably damaging	Het
Pid1	A	G	1: 84,159,311	V33A	probably benign	Het
Prpsap1	A	G	11: 116,494,189		probably benign	Het
R3hdml	T	C	2: 163,492,615	W42R	probably benign	Het
Rnase6	A	T	14: 51,130,405	N85Y	possibly damaging	Het
Scn3a	T	A	2: 65,461,252	M1717L	possibly damaging	Het
Sh2b2	T	C	5: 136,224,152	T389A	probably benign	Het
Sh2d4a	G	A	8: 68,294,366	G82D	probably damaging	Het
Skint9	A	T	4: 112,391,718	M171K	probably benign	Het
Slc5a11	C	T	7: 123,269,101	R505W	probably damaging	Het
Slx4	C	A	16: 3,987,956	M577I	probably benign	Het
Soga3	G	A	10: 29,196,779	R689Q	probably damaging	Het
Tarbp1	C	T	8: 126,450,723	V737I	probably benign	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem100	A	T	11: 90,035,707	E120V	probably damaging	Het
Trim72	C	T	7: 128,010,001	T325M	possibly damaging	Het
Trpc2	G	A	7: 102,090,612	G581D	possibly damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Ubn1	T	C	16: 5,070,628	S154P	unknown	Het
Uchl1	T	A	5: 66,676,306	M6K	probably damaging	Het
Vmn1r193	A	T	13: 22,219,819	M1K	probably null	Het
Wisp1	G	A	15: 66,913,051	R191K	probably benign	Het
Zfp429	T	A	13: 67,390,412	K304N	probably benign	Het
Zfp618	A	G	4: 63,118,587	N375D	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp78	A	T	7: 6,379,355	D468V	probably benign	Het
Zfp809	A	C	9: 22,239,098	Y297S	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
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
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'- TTTGACAGTTCCACAGACACCTAC -3'
(R):5'- CAACTTGCTGCACTGGAAGG -3'

Sequencing Primer
(F):5'- CCCCATGATGAGAGGACTTCTTAAG -3'
(R):5'- GAGGACAAACAGTTGGACTATTTAC -3'

Posted On

2022-04-18