Mutagenetix > Incidental Mutation

Incidental Mutation 'R4971:Setbp1'

384480

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

042566-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.485) question?

Stock #

R4971 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78750380-79109391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78858167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 762 (S762P)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably benign
Transcript: ENSMUST00000025430
AA Change: S762P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: S762P

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 benign
Transcript: ENSMUST00000161465
AA Change: S762P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124497
Gene: ENSMUSG00000024548
AA Change: S762P

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: 95.6%
20x: 89.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,325,599		probably benign	Het
A2ml1	A	T	6: 128,547,227	F1147L	probably damaging	Het
Abca2	T	C	2: 25,441,994	S1373P	probably damaging	Het
Abca9	A	T	11: 110,152,048	S392T	probably benign	Het
Abcd2	T	C	15: 91,163,110	D580G	probably benign	Het
Actl9	T	A	17: 33,433,908	L314H	probably damaging	Het
Adamtsl1	T	C	4: 86,336,931	F746L	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Cd3eap	T	C	7: 19,357,562	N207D	probably benign	Het
Cdkl3	T	C	11: 52,011,168	V68A	possibly damaging	Het
Cnot1	A	G	8: 95,721,626	F2266S	probably damaging	Het
Colq	T	C	14: 31,545,077	R159G	probably damaging	Het
Ctse	A	T	1: 131,664,392	D152V	probably damaging	Het
Cul7	G	T	17: 46,659,119	M1011I	probably benign	Het
Cyb5r4	G	T	9: 87,057,171	V336L	possibly damaging	Het
Dync2h1	A	T	9: 7,131,949	H1619Q	probably benign	Het
Eif2ak1	A	G	5: 143,882,168	K216E	probably damaging	Het
F5	A	T	1: 164,194,186	H1410L	probably benign	Het
Frem2	T	C	3: 53,539,183	Y2388C	probably damaging	Het
Fsip2	C	T	2: 82,985,878	T3985M	probably benign	Het
Gak	T	C	5: 108,596,806	Y535C	probably damaging	Het
Gm15448	T	A	7: 3,822,806	M355L	probably benign	Het
Gzmc	G	T	14: 56,232,369	P158Q	probably damaging	Het
Hook3	A	G	8: 26,082,579	Y135H	probably benign	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Ing4	A	T	6: 125,043,998	M28L	probably benign	Het
Irs3	T	A	5: 137,644,492	D228V	probably damaging	Het
Jade1	T	A	3: 41,601,401	I301N	probably damaging	Het
Kif13b	T	A	14: 64,757,562	M921K	possibly damaging	Het
Kmt2c	A	G	5: 25,310,872	S2658P	probably benign	Het
Map3k4	A	G	17: 12,249,495		probably null	Het
Map4k5	C	T	12: 69,852,719	V53I	possibly damaging	Het
Mdn1	T	C	4: 32,739,827	S3694P	probably damaging	Het
Mgea5	C	A	19: 45,770,046		probably null	Het
Mroh7	A	G	4: 106,691,552	V1038A	probably benign	Het
Muc5ac	T	C	7: 141,816,278	V3185A	possibly damaging	Het
Mup5	T	A	4: 61,833,060	N117I	probably benign	Het
Myo19	T	A	11: 84,892,197	M179K	probably damaging	Het
Myo1c	A	G	11: 75,671,588	Y902C	probably damaging	Het
Nf1	T	A	11: 79,444,643	I977K	probably damaging	Het
Nos1	T	C	5: 117,943,834	V1240A	probably benign	Het
Nr3c1	T	C	18: 39,486,877	D119G	probably damaging	Het
Olfr1212	A	T	2: 88,958,519	N18Y	probably damaging	Het
Pdlim2	A	G	14: 70,167,759	V219A	probably damaging	Het
Prdx1	T	C	4: 116,691,931		probably null	Het
Rbfox1	C	T	16: 7,294,088	R173C	probably damaging	Het
Rbp3	T	A	14: 33,954,470	V125D	probably damaging	Het
Rhot1	T	A	11: 80,233,474	I154K	probably damaging	Het
Runx1t1	C	T	4: 13,837,978	R129C	probably damaging	Het
Slc13a3	A	G	2: 165,448,699	I67T	probably damaging	Het
Tbc1d2b	A	T	9: 90,218,870	M689K	probably benign	Het
Top2a	T	C	11: 98,993,841	Y1517C	probably damaging	Het
Txndc2	A	T	17: 65,638,854	N109K	probably damaging	Het
Tyk2	A	G	9: 21,120,501		probably null	Het
Wdfy3	A	T	5: 101,948,972	L320*	probably null	Het
Zfp456	T	C	13: 67,366,876	E237G	probably benign	Het
Zscan10	A	G	17: 23,607,173	E103G	possibly 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
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
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'- ATCTCCTTCAGTGAGCCAATC -3'
(R):5'- TGTCAGCAAGAGAGGAACCATC -3'

Sequencing Primer
(F):5'- CCAATCTCGCAAAGGTGTGATG -3'
(R):5'- GAGAGGAACCATCTACATAGGC -3'

Posted On

2016-04-27