Mutagenetix > Incidental Mutation

Incidental Mutation 'R7589:Setbp1'

587333

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

045637-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R7589 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78750380-79109391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78856492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1320 (M1320K)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably benign
Transcript: ENSMUST00000025430
AA Change: M1320K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: M1320K

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	G	7: 41,626,972 (GRCm38)	C700G	probably damaging	Het
4930486L24Rik	T	C	13: 60,842,933 (GRCm38)	K316E	probably damaging	Het
Akap6	A	T	12: 53,142,063 (GRCm38)	K2087*	probably null	Het
Alpk2	A	T	18: 65,300,073 (GRCm38)	H1320Q	probably damaging	Het
Aox1	A	T	1: 58,041,484 (GRCm38)	R31W	probably damaging	Het
Asnsd1	G	T	1: 53,347,967 (GRCm38)	A167E	probably benign	Het
Atg14	T	C	14: 47,543,090 (GRCm38)	D409G	probably benign	Het
Atp13a3	T	A	16: 30,344,615 (GRCm38)	E574D	probably benign	Het
Bicd1	A	T	6: 149,513,667 (GRCm38)	Y626F	possibly damaging	Het
Cdc5l	C	T	17: 45,410,781 (GRCm38)	R521Q	probably benign	Het
Dglucy	T	C	12: 100,841,401 (GRCm38)	F160L	probably damaging	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Fmo9	T	A	1: 166,674,428 (GRCm38)	K209N	possibly damaging	Het
Gsdmc2	C	A	15: 63,825,043 (GRCm38)	L426F	probably damaging	Het
Hip1	T	C	5: 135,414,311 (GRCm38)	D956G	probably benign	Het
Kif28	C	T	1: 179,731,400 (GRCm38)	V248I	probably benign	Het
Klk10	T	C	7: 43,783,627 (GRCm38)	V149A	probably benign	Het
Krt40	G	T	11: 99,540,157 (GRCm38)	N255K	probably damaging	Het
Map4k4	T	A	1: 40,021,091 (GRCm38)	Y1013*	probably null	Het
Mcur1	T	C	13: 43,551,625 (GRCm38)	Y185C	probably damaging	Het
Mzt1	T	C	14: 99,036,512 (GRCm38)		probably null	Het
Naip5	G	T	13: 100,219,697 (GRCm38)	Q1137K	not run	Het
Naip5	T	C	13: 100,219,696 (GRCm38)	Q1137R	probably benign	Het
Nkx1-2	T	C	7: 132,599,475 (GRCm38)	I18V	probably damaging	Het
Ofcc1	T	A	13: 40,255,484 (GRCm38)	Q155L	probably benign	Het
Olfr1239	A	G	2: 89,418,380 (GRCm38)	V11A	possibly damaging	Het
Olfr1282	T	C	2: 111,335,374 (GRCm38)	K235E	probably damaging	Het
Olfr1377	A	T	11: 50,985,030 (GRCm38)	M110L	probably damaging	Het
Olfr1411	G	A	1: 92,597,059 (GRCm38)	R180H	probably benign	Het
Olfr635	T	C	7: 103,979,791 (GRCm38)	Y200H	probably damaging	Het
Prnp	A	G	2: 131,936,866 (GRCm38)	D146G	probably benign	Het
Rhbdf1	C	T	11: 32,212,903 (GRCm38)	V455I	probably benign	Het
Rnf6	G	A	5: 146,211,429 (GRCm38)	R260W	possibly damaging	Het
Rtl1	T	C	12: 109,593,845 (GRCm38)	N520S	possibly damaging	Het
Slc39a8	A	G	3: 135,884,362 (GRCm38)	T338A	probably damaging	Het
Tcf4	A	G	18: 69,682,819 (GRCm38)	*693W	probably null	Het
Ttc8	A	T	12: 98,976,437 (GRCm38)	D412V	probably damaging	Het
Ush2a	G	T	1: 188,542,849 (GRCm38)	A1840S	probably benign	Het
Vmn1r60	A	T	7: 5,544,689 (GRCm38)	S137R		Het
Vmn1r91	T	A	7: 20,101,877 (GRCm38)	H240Q	probably benign	Het
Vmn2r107	A	T	17: 20,375,372 (GRCm38)	H729L	probably benign	Het
Yme1l1	C	T	2: 23,160,262 (GRCm38)	T35I	probably benign	Het
Zfp292	A	G	4: 34,806,777 (GRCm38)	V2094A	probably damaging	Het
Zfp934	A	T	13: 62,518,316 (GRCm38)	N202K		Het

Other mutations in Setbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Setbp1	APN	18	78,755,679 (GRCm38)	nonsense	probably null	0.00
IGL00668:Setbp1	APN	18	78,857,770 (GRCm38)	missense	probably damaging	1.00
IGL01628:Setbp1	APN	18	78,856,777 (GRCm38)	missense	probably damaging	1.00
IGL02084:Setbp1	APN	18	78,857,410 (GRCm38)	missense	probably damaging	1.00
IGL02405:Setbp1	APN	18	78,857,299 (GRCm38)	missense	probably damaging	1.00
IGL02427:Setbp1	APN	18	78,857,473 (GRCm38)	missense	probably damaging	1.00
IGL02612:Setbp1	APN	18	78,755,710 (GRCm38)	missense	probably damaging	1.00
IGL02725:Setbp1	APN	18	78,857,374 (GRCm38)	nonsense	probably null
IGL03005:Setbp1	APN	18	78,859,125 (GRCm38)	missense	possibly damaging	0.75
IGL03123:Setbp1	APN	18	78,857,009 (GRCm38)	missense	probably damaging	1.00
R1083:Setbp1	UTSW	18	78,857,626 (GRCm38)	missense	probably damaging	1.00
R1110:Setbp1	UTSW	18	78,857,860 (GRCm38)	missense	probably damaging	1.00
R1167:Setbp1	UTSW	18	78,857,236 (GRCm38)	missense	possibly damaging	0.85
R1221:Setbp1	UTSW	18	78,856,583 (GRCm38)	missense	probably damaging	1.00
R1225:Setbp1	UTSW	18	78,858,208 (GRCm38)	missense	probably damaging	0.99
R1327:Setbp1	UTSW	18	78,783,358 (GRCm38)	missense	probably benign	0.00
R1481:Setbp1	UTSW	18	78,783,301 (GRCm38)	missense	probably benign	0.01
R1482:Setbp1	UTSW	18	79,086,835 (GRCm38)	missense	probably damaging	1.00
R1496:Setbp1	UTSW	18	78,859,912 (GRCm38)	missense	probably damaging	1.00
R1550:Setbp1	UTSW	18	78,858,592 (GRCm38)	missense	probably damaging	1.00
R1708:Setbp1	UTSW	18	78,858,467 (GRCm38)	missense	probably damaging	0.99
R1751:Setbp1	UTSW	18	78,857,398 (GRCm38)	missense	probably damaging	1.00
R1922:Setbp1	UTSW	18	78,858,362 (GRCm38)	missense	possibly damaging	0.75
R1986:Setbp1	UTSW	18	78,858,544 (GRCm38)	missense	probably damaging	0.99
R2090:Setbp1	UTSW	18	78,856,720 (GRCm38)	missense	probably benign	0.00
R2851:Setbp1	UTSW	18	78,923,996 (GRCm38)	missense	probably benign	0.11
R2853:Setbp1	UTSW	18	78,923,996 (GRCm38)	missense	probably benign	0.11
R2941:Setbp1	UTSW	18	78,858,197 (GRCm38)	missense	probably damaging	1.00
R3151:Setbp1	UTSW	18	78,857,435 (GRCm38)	missense	probably damaging	1.00
R3156:Setbp1	UTSW	18	78,859,303 (GRCm38)	missense	probably benign	0.00
R3807:Setbp1	UTSW	18	78,783,322 (GRCm38)	missense	probably benign	0.01
R4133:Setbp1	UTSW	18	78,856,991 (GRCm38)	missense	probably benign	0.05
R4287:Setbp1	UTSW	18	78,859,061 (GRCm38)	missense	probably benign	0.03
R4345:Setbp1	UTSW	18	79,086,579 (GRCm38)	missense	probably damaging	0.99
R4374:Setbp1	UTSW	18	78,859,922 (GRCm38)	missense	probably damaging	0.97
R4377:Setbp1	UTSW	18	78,859,922 (GRCm38)	missense	probably damaging	0.97
R4378:Setbp1	UTSW	18	78,856,618 (GRCm38)	missense	possibly damaging	0.95
R4379:Setbp1	UTSW	18	79,086,681 (GRCm38)	missense	probably damaging	1.00
R4585:Setbp1	UTSW	18	79,086,949 (GRCm38)	missense	probably benign	0.00
R4595:Setbp1	UTSW	18	78,857,516 (GRCm38)	missense	probably benign	0.00
R4817:Setbp1	UTSW	18	78,858,800 (GRCm38)	missense	probably damaging	1.00
R4971:Setbp1	UTSW	18	78,858,167 (GRCm38)	missense	probably benign	0.07
R4976:Setbp1	UTSW	18	79,086,712 (GRCm38)	missense	probably damaging	1.00
R5017:Setbp1	UTSW	18	78,856,594 (GRCm38)	missense	possibly damaging	0.81
R5066:Setbp1	UTSW	18	78,857,299 (GRCm38)	missense	probably damaging	1.00
R5133:Setbp1	UTSW	18	78,857,482 (GRCm38)	missense	probably damaging	1.00
R5151:Setbp1	UTSW	18	78,857,999 (GRCm38)	missense	probably damaging	1.00
R5237:Setbp1	UTSW	18	78,856,975 (GRCm38)	missense	possibly damaging	0.92
R5480:Setbp1	UTSW	18	78,858,063 (GRCm38)	missense	probably damaging	0.99
R5507:Setbp1	UTSW	18	79,086,712 (GRCm38)	missense	probably damaging	1.00
R5529:Setbp1	UTSW	18	79,086,652 (GRCm38)	missense	probably damaging	0.99
R5622:Setbp1	UTSW	18	78,857,485 (GRCm38)	missense	probably damaging	1.00
R5722:Setbp1	UTSW	18	78,856,645 (GRCm38)	missense	possibly damaging	0.95
R5806:Setbp1	UTSW	18	78,856,482 (GRCm38)	splice site	probably null
R5940:Setbp1	UTSW	18	78,755,488 (GRCm38)	missense	probably damaging	1.00
R6025:Setbp1	UTSW	18	78,859,240 (GRCm38)	missense	probably damaging	0.98
R6030:Setbp1	UTSW	18	78,857,711 (GRCm38)	missense	probably benign	0.02
R6030:Setbp1	UTSW	18	78,857,711 (GRCm38)	missense	probably benign	0.02
R6250:Setbp1	UTSW	18	78,858,002 (GRCm38)	missense	probably benign	0.00
R6256:Setbp1	UTSW	18	78,857,257 (GRCm38)	missense	probably damaging	1.00
R6332:Setbp1	UTSW	18	78,783,369 (GRCm38)	missense	probably benign	0.21
R6522:Setbp1	UTSW	18	78,857,390 (GRCm38)	missense	probably damaging	0.98
R6873:Setbp1	UTSW	18	78,859,559 (GRCm38)	missense	probably benign	0.00
R6886:Setbp1	UTSW	18	78,857,500 (GRCm38)	missense	probably damaging	1.00
R6986:Setbp1	UTSW	18	78,857,839 (GRCm38)	missense	probably damaging	1.00
R7042:Setbp1	UTSW	18	79,086,855 (GRCm38)	missense	probably damaging	1.00
R7131:Setbp1	UTSW	18	79,086,960 (GRCm38)	missense	probably benign	0.08
R7134:Setbp1	UTSW	18	78,859,519 (GRCm38)	missense	possibly damaging	0.86
R7215:Setbp1	UTSW	18	78,856,837 (GRCm38)	missense	probably damaging	0.97
R7219:Setbp1	UTSW	18	78,755,745 (GRCm38)	missense	probably damaging	1.00
R7378:Setbp1	UTSW	18	78,857,486 (GRCm38)	missense	probably damaging	1.00
R7461:Setbp1	UTSW	18	78,856,492 (GRCm38)	missense	probably benign	0.06
R7840:Setbp1	UTSW	18	78,783,424 (GRCm38)	missense	probably benign	0.03
R7849:Setbp1	UTSW	18	78,856,853 (GRCm38)	missense	probably benign	0.00
R8147:Setbp1	UTSW	18	78,856,800 (GRCm38)	missense	probably damaging	1.00
R8354:Setbp1	UTSW	18	78,857,383 (GRCm38)	missense	probably damaging	1.00
R8446:Setbp1	UTSW	18	78,857,756 (GRCm38)	missense	probably damaging	1.00
R8524:Setbp1	UTSW	18	78,858,754 (GRCm38)	missense	probably damaging	1.00
R8534:Setbp1	UTSW	18	78,783,327 (GRCm38)	missense	possibly damaging	0.86
R8694:Setbp1	UTSW	18	78,858,301 (GRCm38)	missense	probably damaging	1.00
R8931:Setbp1	UTSW	18	78,856,508 (GRCm38)	missense	probably benign	0.00
R8983:Setbp1	UTSW	18	78,859,244 (GRCm38)	missense	probably benign	0.37
R9062:Setbp1	UTSW	18	78,857,051 (GRCm38)	missense	probably benign	0.01
R9113:Setbp1	UTSW	18	78,857,733 (GRCm38)	missense	probably damaging	0.99
R9364:Setbp1	UTSW	18	78,783,384 (GRCm38)	missense	probably benign	0.00
R9513:Setbp1	UTSW	18	78,856,566 (GRCm38)	missense	probably damaging	1.00
R9517:Setbp1	UTSW	18	78,858,107 (GRCm38)	missense	probably damaging	0.99
R9549:Setbp1	UTSW	18	78,859,414 (GRCm38)	missense	probably benign	0.07
R9554:Setbp1	UTSW	18	78,783,384 (GRCm38)	missense	probably benign	0.00
R9680:Setbp1	UTSW	18	78,859,283 (GRCm38)	missense	probably benign
R9711:Setbp1	UTSW	18	78,856,927 (GRCm38)	missense	probably benign	0.30
Z1088:Setbp1	UTSW	18	78,859,594 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGGCATTGGCTTTGTGGAAC -3'
(R):5'- AAAAGGTACTCTGGCAGCGG -3'

Sequencing Primer
(F):5'- CAGAAAGACAGGCAAATCATGTAAAC -3'
(R):5'- TACTCTGGCAGCGGTGGAG -3'

Posted On

2019-10-24