Mutagenetix > Incidental Mutation

Incidental Mutation 'R8534:Setbp1'

659181

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

068503-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.625) question?

Stock #

R8534 (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 78826542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1357 (D1357G)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025430
AA Change: D1357G

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: D1357G

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: 99.2%

Validation Efficiency

100% (57/57)

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
4921504E06Rik	A	C	2: 19,545,153 (GRCm39)	L100R	probably damaging	Het
6820408C15Rik	A	G	2: 152,283,182 (GRCm39)	D282G	probably damaging	Het
Abcb11	G	T	2: 69,154,190 (GRCm39)	N125K	possibly damaging	Het
Acbd7	A	T	2: 3,341,750 (GRCm39)	D71V	probably damaging	Het
Adgrb1	A	T	15: 74,415,357 (GRCm39)	T646S	probably damaging	Het
Adgrv1	A	G	13: 81,534,887 (GRCm39)	Y5793H	probably benign	Het
Agmo	A	G	12: 37,302,538 (GRCm39)	D125G	probably damaging	Het
Ahrr	A	G	13: 74,368,799 (GRCm39)	S125P	probably damaging	Het
B020011L13Rik	C	A	1: 117,729,034 (GRCm39)	H180Q	probably benign	Het
Cbfa2t3	T	C	8: 123,365,653 (GRCm39)	D219G	probably damaging	Het
Ccdc187	A	G	2: 26,165,577 (GRCm39)	S860P	possibly damaging	Het
Ceacam5	A	T	7: 17,484,671 (GRCm39)	Q471L	probably benign	Het
Cyp2c54	A	C	19: 40,036,030 (GRCm39)	D293E	probably damaging	Het
Dnah1	G	T	14: 31,023,805 (GRCm39)	N962K	probably benign	Het
Dst	C	T	1: 34,229,388 (GRCm39)	T2002I	probably benign	Het
Elavl1	A	T	8: 4,339,864 (GRCm39)	N239K	probably benign	Het
Elmod3	A	G	6: 72,543,667 (GRCm39)	F375L	probably benign	Het
G6pc2	T	A	2: 69,050,469 (GRCm39)	N31K	probably benign	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gm6569	G	T	15: 73,711,673 (GRCm39)		probably benign	Het
Insig1	C	T	5: 28,280,116 (GRCm39)	S236L	probably damaging	Het
Itih4	A	T	14: 30,622,979 (GRCm39)	N882I	probably benign	Het
Kmt5a	C	A	5: 124,598,635 (GRCm39)	D309E	probably benign	Het
Kndc1	C	A	7: 139,503,669 (GRCm39)	T991N	probably benign	Het
Lingo1	T	A	9: 56,528,353 (GRCm39)	T79S	probably benign	Het
Myh4	A	T	11: 67,134,335 (GRCm39)	E330V	probably benign	Het
Nlrx1	A	G	9: 44,174,070 (GRCm39)	V377A	probably benign	Het
Npy5r	C	A	8: 67,134,688 (GRCm39)	G35V	probably benign	Het
Or5b102	T	A	19: 13,041,432 (GRCm39)	I219N	probably damaging	Het
Or7g33	C	T	9: 19,448,605 (GRCm39)	G207D	possibly damaging	Het
Pabpn1l	T	C	8: 123,349,358 (GRCm39)	T20A	probably benign	Het
Pcf11	A	G	7: 92,302,432 (GRCm39)	V1226A	probably benign	Het
Per2	G	A	1: 91,351,659 (GRCm39)	T949M	probably benign	Het
Phc1	G	A	6: 122,315,539 (GRCm39)		probably benign	Het
Pias2	A	G	18: 77,185,083 (GRCm39)	I55V	possibly damaging	Het
Pik3r2	A	T	8: 71,227,312 (GRCm39)	S104T	probably benign	Het
Pip	T	C	6: 41,828,421 (GRCm39)	V85A	probably benign	Het
Pms2	T	C	5: 143,860,445 (GRCm39)	V86A	probably benign	Het
Potefam1	G	A	2: 111,058,380 (GRCm39)	P138S	possibly damaging	Het
Rab44	A	G	17: 29,363,547 (GRCm39)		probably null	Het
Rrbp1	A	G	2: 143,830,095 (GRCm39)	S691P	probably damaging	Het
Ruvbl2	A	T	7: 45,079,118 (GRCm39)		probably null	Het
Slc12a6	T	A	2: 112,174,312 (GRCm39)	I476N	probably damaging	Het
Slc1a1	C	T	19: 28,882,746 (GRCm39)	P337S	probably damaging	Het
Slc35b3	T	A	13: 39,128,566 (GRCm39)	T174S	probably benign	Het
Slc4a4	A	T	5: 89,283,581 (GRCm39)	I467F	probably damaging	Het
Slc50a1	G	A	3: 89,177,710 (GRCm39)		probably null	Het
Spink14	G	A	18: 44,164,079 (GRCm39)		probably null	Het
Spmap2l	T	A	5: 77,207,325 (GRCm39)	I361N	probably damaging	Het
Tmem59	T	C	4: 107,043,082 (GRCm39)		probably null	Het
Tnr	G	A	1: 159,746,585 (GRCm39)	E1235K	probably benign	Het
Trpm6	A	T	19: 18,869,459 (GRCm39)	R2015S	probably benign	Het
Tsnaxip1	A	G	8: 106,565,370 (GRCm39)	E132G	probably damaging	Het
Vps54	A	G	11: 21,227,706 (GRCm39)	N93S	probably benign	Het
Wdr17	T	G	8: 55,101,265 (GRCm39)	I994L	probably benign	Het
Zfat	G	T	15: 68,037,696 (GRCm39)	H926Q	probably damaging	Het
Zfp2	C	T	11: 50,791,627 (GRCm39)	E139K	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
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
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'- TTTGACAGTTCCACAGACACC -3'
(R):5'- CAACTTGCTGCACTGGAAGGAG -3'

Sequencing Primer
(F):5'- CACCTACAGTGTATTGTGATGTCAC -3'
(R):5'- ACTCAGATTAAGTTCGGGCTTTATG -3'

Posted On

2021-01-18