Mutagenetix > Incidental Mutation

Incidental Mutation 'R8694:Setbp1'

668588

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

068548-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.625) question?

Stock #

R8694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78793595-79152606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78901516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 717 (K717R)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably damaging
Transcript: ENSMUST00000025430
AA Change: K717R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: K717R

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: 99.8%
20x: 99.3%

Validation Efficiency

98% (51/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	T	C	3: 89,642,950 (GRCm39)	L277P	probably damaging	Het
Adgrb3	C	A	1: 25,865,472 (GRCm39)	D124Y	probably damaging	Het
Afdn	T	C	17: 14,108,641 (GRCm39)	V1403A	probably benign	Het
Afg3l1	T	C	8: 124,227,973 (GRCm39)	V586A	probably damaging	Het
Ajm1	A	G	2: 25,469,831 (GRCm39)	S27P	possibly damaging	Het
Aloxe3	A	G	11: 69,033,677 (GRCm39)	D597G	probably damaging	Het
Asb15	T	C	6: 24,570,666 (GRCm39)	V548A	probably benign	Het
Atp6v1a	C	T	16: 43,921,991 (GRCm39)	R388Q	probably damaging	Het
Btbd8	A	G	5: 107,658,635 (GRCm39)	D1735G	probably benign	Het
C130074G19Rik	G	A	1: 184,615,184 (GRCm39)	T2M	probably damaging	Het
Ccdc187	T	C	2: 26,165,505 (GRCm39)	T884A	probably benign	Het
Cdk5rap1	G	A	2: 154,195,148 (GRCm39)	R356*	probably null	Het
Cebpz	A	T	17: 79,234,334 (GRCm39)	H725Q	probably damaging	Het
Celsr2	T	C	3: 108,314,176 (GRCm39)	D1283G	probably damaging	Het
Cldn11	G	T	3: 31,217,239 (GRCm39)	V136F	probably damaging	Het
Cpxm2	T	C	7: 131,681,783 (GRCm39)	N249D	probably benign	Het
Ctsz	T	C	2: 174,280,072 (GRCm39)	N67D	probably benign	Het
Drd3	A	C	16: 43,643,075 (GRCm39)	H405P	probably damaging	Het
F2rl2	T	C	13: 95,837,339 (GRCm39)	V128A	probably benign	Het
Fh1	C	T	1: 175,448,126 (GRCm39)	P43S	probably benign	Het
Fndc7	C	T	3: 108,779,622 (GRCm39)	W307*	probably null	Het
Gmip	G	T	8: 70,270,485 (GRCm39)	V732L	probably benign	Het
Heatr4	A	G	12: 84,027,038 (GRCm39)	F73S	probably damaging	Het
Iqcf4	T	C	9: 106,448,111 (GRCm39)		probably benign	Het
Itln1	T	A	1: 171,359,279 (GRCm39)	Q67L	probably damaging	Het
Jak1	A	G	4: 101,013,704 (GRCm39)	V1008A	probably damaging	Het
Kcnh1	A	T	1: 191,921,031 (GRCm39)		probably benign	Het
Kcnu1	T	G	8: 26,342,101 (GRCm39)		probably benign	Het
Kif1b	A	G	4: 149,305,024 (GRCm39)	S967P	probably damaging	Het
Klra17	A	G	6: 129,851,780 (GRCm39)	S31P	probably benign	Het
Kmt2d	C	T	15: 98,742,615 (GRCm39)	E4182K	unknown	Het
Lama5	T	C	2: 179,822,677 (GRCm39)	D2825G	probably damaging	Het
Lmtk2	T	C	5: 144,108,566 (GRCm39)	V336A	probably damaging	Het
Mad1l1	A	G	5: 140,074,438 (GRCm39)	I584T	probably benign	Het
Magea1	T	A	X: 153,871,787 (GRCm39)	N313I	possibly damaging	Het
Mapt	T	C	11: 104,189,440 (GRCm39)	S153P	probably benign	Het
Myo1e	T	C	9: 70,291,172 (GRCm39)	Y988H	probably benign	Het
Ndufc2	A	T	7: 97,049,403 (GRCm39)	N3I	probably benign	Het
Nos2	T	A	11: 78,836,515 (GRCm39)	V531D	possibly damaging	Het
Npbwr1	T	A	1: 5,986,617 (GRCm39)	Y299F	probably damaging	Het
Or4a39	A	G	2: 89,237,378 (GRCm39)	L15P	probably damaging	Het
Or4a70	A	G	2: 89,324,171 (GRCm39)	Y162H	possibly damaging	Het
Or52n20	G	T	7: 104,320,296 (GRCm39)	C129F	probably damaging	Het
Or8h10	G	A	2: 86,808,591 (GRCm39)	P183L	probably damaging	Het
Pp2d1	T	C	17: 53,815,191 (GRCm39)	Y511C	probably benign	Het
Psmb4	T	C	3: 94,793,435 (GRCm39)	N149D	probably benign	Het
Slc25a11	T	C	11: 70,535,630 (GRCm39)	M303V	probably benign	Het
Spesp1	A	T	9: 62,180,242 (GRCm39)	M222K	probably benign	Het
Tmem132d	A	G	5: 127,869,495 (GRCm39)	M613T	probably benign	Het
Ugt2a2	A	G	5: 87,612,029 (GRCm39)	F294L	probably damaging	Het
Usp34	A	G	11: 23,434,161 (GRCm39)	T3246A		Het
Zfp750	T	A	11: 121,404,456 (GRCm39)	I140F	possibly damaging	Het
Zscan4e	A	T	7: 11,041,574 (GRCm39)	H127Q	possibly damaging	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
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
R9062:Setbp1	UTSW	18	78,900,266 (GRCm39)	missense	probably benign	0.01
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'- GGACCCACCTAACTGTGTTG -3'
(R):5'- CAAGCTTGGTGTGCTGGATAAG -3'

Sequencing Primer
(F):5'- ACCCACCTAACTGTGTTGAGAGTG -3'
(R):5'- TGTGCTGGATAAGAAGACCATC -3'

Posted On

2021-04-30