Mutagenetix > Incidental Mutation

Incidental Mutation 'R9062:Setbp1'

689055

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

068888-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.625) question?

Stock #

R9062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78793595-79152606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78900266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1134 (S1134P)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably benign
Transcript: ENSMUST00000025430
AA Change: S1134P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: S1134P

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambra1	A	G	2: 91,740,662 (GRCm39)	E1047G	possibly damaging	Het
Ankfn1	T	G	11: 89,325,583 (GRCm39)	I530L	probably benign	Het
Apob	A	T	12: 8,058,046 (GRCm39)	Y2176F	possibly damaging	Het
Atp5f1a	C	T	18: 77,866,459 (GRCm39)	R171*	probably null	Het
Atxn10	T	C	15: 85,275,918 (GRCm39)	V325A	probably benign	Het
B3galt1	T	C	2: 67,948,890 (GRCm39)	Y202H		Het
Calhm1	A	T	19: 47,129,828 (GRCm39)	D231E	possibly damaging	Het
Cel	C	A	2: 28,451,214 (GRCm39)	V48F	probably benign	Het
Cep78	T	A	19: 15,956,318 (GRCm39)	Y207F	probably benign	Het
Cnst	T	C	1: 179,434,100 (GRCm39)		probably null	Het
Cpeb2	C	A	5: 43,391,171 (GRCm39)	N122K		Het
Cyth1	T	C	11: 118,023,142 (GRCm39)	Q432R	unknown	Het
Eif2ak1	T	C	5: 143,803,548 (GRCm39)		probably benign	Het
Eif6	T	C	2: 155,665,928 (GRCm39)	T76A	probably benign	Het
Etfrf1	A	T	6: 145,161,153 (GRCm39)	N41I	probably damaging	Het
Etl4	T	G	2: 20,748,616 (GRCm39)	L318R	probably damaging	Het
Fam151a	G	T	4: 106,605,306 (GRCm39)	W556L	probably benign	Het
Gas2l1	A	G	11: 5,011,497 (GRCm39)	V444A	probably benign	Het
Gbp8	A	G	5: 105,179,124 (GRCm39)	I125T	possibly damaging	Het
Jrkl	A	G	9: 13,245,338 (GRCm39)	F108L	probably benign	Het
Kif13a	G	T	13: 46,941,536 (GRCm39)	D980E	possibly damaging	Het
Leng9	C	T	7: 4,151,666 (GRCm39)	A337T	probably damaging	Het
Lipo3	A	C	19: 33,757,714 (GRCm39)	C252G	probably damaging	Het
Lrp4	C	A	2: 91,303,925 (GRCm39)	D113E	possibly damaging	Het
Mapk8ip1	T	C	2: 92,217,527 (GRCm39)	Y265C	probably damaging	Het
Mios	A	T	6: 8,233,221 (GRCm39)	I790F	probably benign	Het
Mlf2	G	A	6: 124,911,334 (GRCm39)		silent	Het
Mycbp2	T	A	14: 103,479,796 (GRCm39)	Y1226F	probably benign	Het
Ncoa6	T	A	2: 155,263,348 (GRCm39)	Q362L	probably benign	Het
Notch3	T	C	17: 32,341,692 (GRCm39)	D2020G	possibly damaging	Het
Or4a73	T	C	2: 89,420,923 (GRCm39)	M179V	probably benign	Het
Or4c111	T	A	2: 88,843,548 (GRCm39)	T287S	probably damaging	Het
Or52z1	T	A	7: 103,437,155 (GRCm39)	I110L	probably benign	Het
Or8d1b	A	T	9: 38,887,421 (GRCm39)	I150F	probably benign	Het
Otop2	C	A	11: 115,214,465 (GRCm39)	A74E	probably benign	Het
Pgm1	T	C	4: 99,843,954 (GRCm39)	I579T	probably damaging	Het
Preb	A	G	5: 31,116,196 (GRCm39)	V137A	probably benign	Het
Psap	G	T	10: 60,131,738 (GRCm39)	V244L	possibly damaging	Het
Skp2	G	T	15: 9,113,821 (GRCm39)	P399Q	probably damaging	Het
Slc47a1	T	G	11: 61,253,924 (GRCm39)	I222L	probably benign	Het
Spata31h1	A	G	10: 82,126,945 (GRCm39)	W2022R	probably benign	Het
Spef2	A	G	15: 9,601,717 (GRCm39)	L1515S	unknown	Het
Sri	T	C	5: 8,106,625 (GRCm39)	Y13H	unknown	Het
Tcf25	T	C	8: 124,116,448 (GRCm39)	F248L		Het
Tdrd12	T	C	7: 35,179,694 (GRCm39)	T885A	unknown	Het
Ttn	T	C	2: 76,600,944 (GRCm39)	T18813A	probably damaging	Het
Usp42	A	G	5: 143,703,740 (GRCm39)	V441A	possibly damaging	Het
Vwa1	A	T	4: 155,854,820 (GRCm39)	S405T	probably benign	Het
Zbbx	A	T	3: 74,989,124 (GRCm39)	H326Q	possibly damaging	Het
Zfp64	T	C	2: 168,767,747 (GRCm39)	T622A	probably benign	Het
Zfp677	T	G	17: 21,612,815 (GRCm39)		probably null	Het

Other mutations in Setbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Setbp1	APN	18	78,798,894 (GRCm39)	nonsense	probably null	0.00
IGL00668:Setbp1	APN	18	78,900,985 (GRCm39)	missense	probably damaging	1.00
IGL01628:Setbp1	APN	18	78,899,992 (GRCm39)	missense	probably damaging	1.00
IGL02084:Setbp1	APN	18	78,900,625 (GRCm39)	missense	probably damaging	1.00
IGL02405:Setbp1	APN	18	78,900,514 (GRCm39)	missense	probably damaging	1.00
IGL02427:Setbp1	APN	18	78,900,688 (GRCm39)	missense	probably damaging	1.00
IGL02612:Setbp1	APN	18	78,798,925 (GRCm39)	missense	probably damaging	1.00
IGL02725:Setbp1	APN	18	78,900,589 (GRCm39)	nonsense	probably null
IGL03005:Setbp1	APN	18	78,902,340 (GRCm39)	missense	possibly damaging	0.75
IGL03123:Setbp1	APN	18	78,900,224 (GRCm39)	missense	probably damaging	1.00
R1083:Setbp1	UTSW	18	78,900,841 (GRCm39)	missense	probably damaging	1.00
R1110:Setbp1	UTSW	18	78,901,075 (GRCm39)	missense	probably damaging	1.00
R1167:Setbp1	UTSW	18	78,900,451 (GRCm39)	missense	possibly damaging	0.85
R1221:Setbp1	UTSW	18	78,899,798 (GRCm39)	missense	probably damaging	1.00
R1225:Setbp1	UTSW	18	78,901,423 (GRCm39)	missense	probably damaging	0.99
R1327:Setbp1	UTSW	18	78,826,573 (GRCm39)	missense	probably benign	0.00
R1481:Setbp1	UTSW	18	78,826,516 (GRCm39)	missense	probably benign	0.01
R1482:Setbp1	UTSW	18	79,130,050 (GRCm39)	missense	probably damaging	1.00
R1496:Setbp1	UTSW	18	78,903,127 (GRCm39)	missense	probably damaging	1.00
R1550:Setbp1	UTSW	18	78,901,807 (GRCm39)	missense	probably damaging	1.00
R1708:Setbp1	UTSW	18	78,901,682 (GRCm39)	missense	probably damaging	0.99
R1751:Setbp1	UTSW	18	78,900,613 (GRCm39)	missense	probably damaging	1.00
R1922:Setbp1	UTSW	18	78,901,577 (GRCm39)	missense	possibly damaging	0.75
R1986:Setbp1	UTSW	18	78,901,759 (GRCm39)	missense	probably damaging	0.99
R2090:Setbp1	UTSW	18	78,899,935 (GRCm39)	missense	probably benign	0.00
R2851:Setbp1	UTSW	18	78,967,211 (GRCm39)	missense	probably benign	0.11
R2853:Setbp1	UTSW	18	78,967,211 (GRCm39)	missense	probably benign	0.11
R2941:Setbp1	UTSW	18	78,901,412 (GRCm39)	missense	probably damaging	1.00
R3151:Setbp1	UTSW	18	78,900,650 (GRCm39)	missense	probably damaging	1.00
R3156:Setbp1	UTSW	18	78,902,518 (GRCm39)	missense	probably benign	0.00
R3807:Setbp1	UTSW	18	78,826,537 (GRCm39)	missense	probably benign	0.01
R4133:Setbp1	UTSW	18	78,900,206 (GRCm39)	missense	probably benign	0.05
R4287:Setbp1	UTSW	18	78,902,276 (GRCm39)	missense	probably benign	0.03
R4345:Setbp1	UTSW	18	79,129,794 (GRCm39)	missense	probably damaging	0.99
R4374:Setbp1	UTSW	18	78,903,137 (GRCm39)	missense	probably damaging	0.97
R4377:Setbp1	UTSW	18	78,903,137 (GRCm39)	missense	probably damaging	0.97
R4378:Setbp1	UTSW	18	78,899,833 (GRCm39)	missense	possibly damaging	0.95
R4379:Setbp1	UTSW	18	79,129,896 (GRCm39)	missense	probably damaging	1.00
R4585:Setbp1	UTSW	18	79,130,164 (GRCm39)	missense	probably benign	0.00
R4595:Setbp1	UTSW	18	78,900,731 (GRCm39)	missense	probably benign	0.00
R4817:Setbp1	UTSW	18	78,902,015 (GRCm39)	missense	probably damaging	1.00
R4971:Setbp1	UTSW	18	78,901,382 (GRCm39)	missense	probably benign	0.07
R4976:Setbp1	UTSW	18	79,129,927 (GRCm39)	missense	probably damaging	1.00
R5017:Setbp1	UTSW	18	78,899,809 (GRCm39)	missense	possibly damaging	0.81
R5066:Setbp1	UTSW	18	78,900,514 (GRCm39)	missense	probably damaging	1.00
R5133:Setbp1	UTSW	18	78,900,697 (GRCm39)	missense	probably damaging	1.00
R5151:Setbp1	UTSW	18	78,901,214 (GRCm39)	missense	probably damaging	1.00
R5237:Setbp1	UTSW	18	78,900,190 (GRCm39)	missense	possibly damaging	0.92
R5480:Setbp1	UTSW	18	78,901,278 (GRCm39)	missense	probably damaging	0.99
R5507:Setbp1	UTSW	18	79,129,927 (GRCm39)	missense	probably damaging	1.00
R5529:Setbp1	UTSW	18	79,129,867 (GRCm39)	missense	probably damaging	0.99
R5622:Setbp1	UTSW	18	78,900,700 (GRCm39)	missense	probably damaging	1.00
R5722:Setbp1	UTSW	18	78,899,860 (GRCm39)	missense	possibly damaging	0.95
R5806:Setbp1	UTSW	18	78,899,697 (GRCm39)	splice site	probably null
R5940:Setbp1	UTSW	18	78,798,703 (GRCm39)	missense	probably damaging	1.00
R6025:Setbp1	UTSW	18	78,902,455 (GRCm39)	missense	probably damaging	0.98
R6030:Setbp1	UTSW	18	78,900,926 (GRCm39)	missense	probably benign	0.02
R6030:Setbp1	UTSW	18	78,900,926 (GRCm39)	missense	probably benign	0.02
R6250:Setbp1	UTSW	18	78,901,217 (GRCm39)	missense	probably benign	0.00
R6256:Setbp1	UTSW	18	78,900,472 (GRCm39)	missense	probably damaging	1.00
R6332:Setbp1	UTSW	18	78,826,584 (GRCm39)	missense	probably benign	0.21
R6522:Setbp1	UTSW	18	78,900,605 (GRCm39)	missense	probably damaging	0.98
R6873:Setbp1	UTSW	18	78,902,774 (GRCm39)	missense	probably benign	0.00
R6886:Setbp1	UTSW	18	78,900,715 (GRCm39)	missense	probably damaging	1.00
R6986:Setbp1	UTSW	18	78,901,054 (GRCm39)	missense	probably damaging	1.00
R7042:Setbp1	UTSW	18	79,130,070 (GRCm39)	missense	probably damaging	1.00
R7131:Setbp1	UTSW	18	79,130,175 (GRCm39)	missense	probably benign	0.08
R7134:Setbp1	UTSW	18	78,902,734 (GRCm39)	missense	possibly damaging	0.86
R7215:Setbp1	UTSW	18	78,900,052 (GRCm39)	missense	probably damaging	0.97
R7219:Setbp1	UTSW	18	78,798,960 (GRCm39)	missense	probably damaging	1.00
R7378:Setbp1	UTSW	18	78,900,701 (GRCm39)	missense	probably damaging	1.00
R7461:Setbp1	UTSW	18	78,899,707 (GRCm39)	missense	probably benign	0.06
R7589:Setbp1	UTSW	18	78,899,707 (GRCm39)	missense	probably benign	0.01
R7840:Setbp1	UTSW	18	78,826,639 (GRCm39)	missense	probably benign	0.03
R7849:Setbp1	UTSW	18	78,900,068 (GRCm39)	missense	probably benign	0.00
R8147:Setbp1	UTSW	18	78,900,015 (GRCm39)	missense	probably damaging	1.00
R8354:Setbp1	UTSW	18	78,900,598 (GRCm39)	missense	probably damaging	1.00
R8446:Setbp1	UTSW	18	78,900,971 (GRCm39)	missense	probably damaging	1.00
R8524:Setbp1	UTSW	18	78,901,969 (GRCm39)	missense	probably damaging	1.00
R8534:Setbp1	UTSW	18	78,826,542 (GRCm39)	missense	possibly damaging	0.86
R8694:Setbp1	UTSW	18	78,901,516 (GRCm39)	missense	probably damaging	1.00
R8931:Setbp1	UTSW	18	78,899,723 (GRCm39)	missense	probably benign	0.00
R8983:Setbp1	UTSW	18	78,902,459 (GRCm39)	missense	probably benign	0.37
R9113:Setbp1	UTSW	18	78,900,948 (GRCm39)	missense	probably damaging	0.99
R9364:Setbp1	UTSW	18	78,826,599 (GRCm39)	missense	probably benign	0.00
R9513:Setbp1	UTSW	18	78,899,781 (GRCm39)	missense	probably damaging	1.00
R9517:Setbp1	UTSW	18	78,901,322 (GRCm39)	missense	probably damaging	0.99
R9549:Setbp1	UTSW	18	78,902,629 (GRCm39)	missense	probably benign	0.07
R9554:Setbp1	UTSW	18	78,826,599 (GRCm39)	missense	probably benign	0.00
R9680:Setbp1	UTSW	18	78,902,498 (GRCm39)	missense	probably benign
R9711:Setbp1	UTSW	18	78,900,142 (GRCm39)	missense	probably benign	0.30
Z1088:Setbp1	UTSW	18	78,902,809 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTTGGAAACCTTGTGGCTGG -3'
(R):5'- TTTCATGAGGCCGACAGTGC -3'

Sequencing Primer
(F):5'- AACCTTGTGGCTGGCCTCC -3'
(R):5'- GTGCCACCACCCCAGTTC -3'

Posted On

2021-11-19