Mutagenetix > Incidental Mutation

Incidental Mutation 'R6025:Setbp1'

480005

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

044197-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.625) question?

Stock #

R6025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78793595-79152606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78902455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 404 (L404Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably damaging
Transcript: ENSMUST00000025430
AA Change: L404Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: L404Q

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 92.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	GC	G	11: 59,101,139 (GRCm39)		probably null	Het
Acvr1b	C	A	15: 101,092,856 (GRCm39)	D166E	probably benign	Het
Adgra2	T	C	8: 27,604,491 (GRCm39)	I522T	probably damaging	Het
Adgre4	C	T	17: 56,099,013 (GRCm39)	S173L	probably benign	Het
Akap9	A	T	5: 4,082,801 (GRCm39)	Q1975L	probably damaging	Het
Ap3d1	T	A	10: 80,546,298 (GRCm39)	M965L	probably benign	Het
Brca2	CATA	CA	5: 150,465,040 (GRCm39)		probably null	Het
Chd6	T	C	2: 160,807,502 (GRCm39)	N1904S	probably benign	Het
Clstn3	A	T	6: 124,408,623 (GRCm39)	S896R	possibly damaging	Het
Col6a3	T	A	1: 90,755,824 (GRCm39)	D155V	probably damaging	Het
Dct	T	C	14: 118,273,876 (GRCm39)	T344A	possibly damaging	Het
Dctn1	T	A	6: 83,170,673 (GRCm39)		probably null	Het
Dgkz	T	C	2: 91,776,255 (GRCm39)	T3A	possibly damaging	Het
Duoxa2	T	C	2: 122,132,332 (GRCm39)	S249P	possibly damaging	Het
Ehbp1	A	T	11: 22,189,156 (GRCm39)	V82E	probably damaging	Het
Fcho1	A	T	8: 72,165,217 (GRCm39)		probably null	Het
Garin5b	T	A	7: 4,761,143 (GRCm39)	D523V	probably benign	Het
Ifi213	T	A	1: 173,422,800 (GRCm39)	N22Y	probably damaging	Het
Kcnq1	T	A	7: 142,660,170 (GRCm39)		probably benign	Het
Kif7	T	A	7: 79,354,388 (GRCm39)	Q799L	probably benign	Het
Lmnb1	T	A	18: 56,862,456 (GRCm39)	L206*	probably null	Het
Lonp2	G	T	8: 87,440,001 (GRCm39)	G247V	probably damaging	Het
Ly75	T	C	2: 60,206,306 (GRCm39)	Y121C	probably damaging	Het
Mboat1	C	A	13: 30,408,509 (GRCm39)	T224K	probably benign	Het
Mcm9	T	C	10: 53,492,073 (GRCm39)	E416G	possibly damaging	Het
Mtnr1b	A	T	9: 15,774,093 (GRCm39)	I322N	probably damaging	Het
Nanog	G	A	6: 122,690,350 (GRCm39)	G227R	possibly damaging	Het
Nbn	T	C	4: 15,981,347 (GRCm39)	S480P	probably damaging	Het
Nek10	C	A	14: 14,865,633 (GRCm38)	L638M	probably benign	Het
Nelfcd	T	C	2: 174,268,611 (GRCm39)	V538A	probably damaging	Het
Or1e33	A	T	11: 73,738,745 (GRCm39)	S69T	probably benign	Het
Or2b4	T	G	17: 38,116,312 (GRCm39)	I92S	probably damaging	Het
Or52a5b	T	C	7: 103,417,416 (GRCm39)	I63V	probably benign	Het
Or5b97	T	A	19: 12,879,034 (GRCm39)	T37S	probably benign	Het
Phf24	G	A	4: 42,938,780 (GRCm39)		probably null	Het
Pigz	T	C	16: 31,764,528 (GRCm39)	S529P	probably damaging	Het
Pik3r5	A	G	11: 68,383,144 (GRCm39)	E321G	probably damaging	Het
Plcb3	G	A	19: 6,933,547 (GRCm39)	T926I	probably benign	Het
Pm20d2	G	A	4: 33,181,833 (GRCm39)	P257S	probably damaging	Het
Pon2	A	G	6: 5,289,057 (GRCm39)	V34A	probably benign	Het
Prkar2b	A	G	12: 32,110,855 (GRCm39)	F76S	possibly damaging	Het
Prpf31	G	A	7: 3,642,668 (GRCm39)	E414K	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Slc26a11	C	T	11: 119,265,654 (GRCm39)	A389V	probably damaging	Het
Slc2a1	A	T	4: 118,993,539 (GRCm39)	T459S	possibly damaging	Het
Spi1	T	C	2: 90,944,685 (GRCm39)	L135P	probably benign	Het
Sspo	T	C	6: 48,463,720 (GRCm39)	L3844P	possibly damaging	Het
Stxbp5	T	A	10: 9,675,772 (GRCm39)	T616S	probably benign	Het
Syde2	A	G	3: 145,712,896 (GRCm39)		probably null	Het
Synm	G	T	7: 67,384,686 (GRCm39)	A550D	possibly damaging	Het
Tanc2	T	C	11: 105,787,373 (GRCm39)	V891A	possibly damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tlx1	A	T	19: 45,144,413 (GRCm39)	Q45L	probably damaging	Het
Tmem104	C	A	11: 115,096,349 (GRCm39)	Y191*	probably null	Het
Tmem17	A	C	11: 22,468,659 (GRCm39)	*199C	probably null	Het
Tns3	A	T	11: 8,442,578 (GRCm39)	M595K	possibly damaging	Het
Tyk2	A	G	9: 21,027,256 (GRCm39)	V538A	probably benign	Het
Unc80	A	G	1: 66,734,727 (GRCm39)	D3250G	possibly damaging	Het
Usp4	A	G	9: 108,237,322 (GRCm39)	H130R	possibly damaging	Het
Zfhx2	T	C	14: 55,302,665 (GRCm39)	Q1773R	probably benign	Het
Zfp790	A	G	7: 29,528,970 (GRCm39)	K552E	possibly damaging	Het
Zswim5	G	A	4: 116,808,106 (GRCm39)	R230Q	probably 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
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
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'- GCGTTCCCACCTGTTTCAAG -3'
(R):5'- ATTGGGTCAAGAGTGCCCAG -3'

Sequencing Primer
(F):5'- CTGTTTCAAGGCCAACTGAGG -3'
(R):5'- TCAAGAGTGCCCAGAAAGCATTTG -3'

Posted On

2017-06-26