Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Possibly essential (E-score: 0.573) question?

Stock #

R6025 (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 78859240 bp (GRCm38)

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: 59,210,313		probably null	Het
Acvr1b	C	A	15: 101,194,975	D166E	probably benign	Het
Adgra2	T	C	8: 27,114,463	I522T	probably damaging	Het
Adgre4	C	T	17: 55,792,013	S173L	probably benign	Het
Akap9	A	T	5: 4,032,801	Q1975L	probably damaging	Het
Ap3d1	T	A	10: 80,710,464	M965L	probably benign	Het
Brca2	CATA	CA	5: 150,541,575		probably null	Het
Chd6	T	C	2: 160,965,582	N1904S	probably benign	Het
Clstn3	A	T	6: 124,431,664	S896R	possibly damaging	Het
Col6a3	T	A	1: 90,828,102	D155V	probably damaging	Het
Dct	T	C	14: 118,036,464	T344A	possibly damaging	Het
Dctn1	T	A	6: 83,193,691		probably null	Het
Dgkz	T	C	2: 91,945,910	T3A	possibly damaging	Het
Duoxa2	T	C	2: 122,301,851	S249P	possibly damaging	Het
Ehbp1	A	T	11: 22,239,156	V82E	probably damaging	Het
Fam71e2	T	A	7: 4,758,144	D523V	probably benign	Het
Fcho1	A	T	8: 71,712,573		probably null	Het
Ifi213	T	A	1: 173,595,234	N22Y	probably damaging	Het
Kcnq1	T	A	7: 143,106,433		probably benign	Het
Kif7	T	A	7: 79,704,640	Q799L	probably benign	Het
Lmnb1	T	A	18: 56,729,384	L206*	probably null	Het
Lonp2	G	T	8: 86,713,373	G247V	probably damaging	Het
Ly75	T	C	2: 60,375,962	Y121C	probably damaging	Het
Mboat1	C	A	13: 30,224,526	T224K	probably benign	Het
Mcm9	T	C	10: 53,615,977	E416G	possibly damaging	Het
Mtnr1b	A	T	9: 15,862,797	I322N	probably damaging	Het
Nanog	G	A	6: 122,713,391	G227R	possibly damaging	Het
Nbn	T	C	4: 15,981,347	S480P	probably damaging	Het
Nek10	C	A	14: 14,865,633	L638M	probably benign	Het
Nelfcd	T	C	2: 174,426,818	V538A	probably damaging	Het
Olfr124	T	G	17: 37,805,421	I92S	probably damaging	Het
Olfr1447	T	A	19: 12,901,670	T37S	probably benign	Het
Olfr393	A	T	11: 73,847,919	S69T	probably benign	Het
Olfr69	T	C	7: 103,768,209	I63V	probably benign	Het
Phf24	G	A	4: 42,938,780		probably null	Het
Pigz	T	C	16: 31,945,710	S529P	probably damaging	Het
Pik3r5	A	G	11: 68,492,318	E321G	probably damaging	Het
Plcb3	G	A	19: 6,956,179	T926I	probably benign	Het
Pm20d2	G	A	4: 33,181,833	P257S	probably damaging	Het
Pon2	A	G	6: 5,289,057	V34A	probably benign	Het
Prkar2b	A	G	12: 32,060,856	F76S	possibly damaging	Het
Prpf31	G	A	7: 3,639,669	E414K	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Slc26a11	C	T	11: 119,374,828	A389V	probably damaging	Het
Slc2a1	A	T	4: 119,136,342	T459S	possibly damaging	Het
Spi1	T	C	2: 91,114,340	L135P	probably benign	Het
Sspo	T	C	6: 48,486,786	L3844P	possibly damaging	Het
Stxbp5	T	A	10: 9,800,028	T616S	probably benign	Het
Syde2	A	G	3: 146,007,141		probably null	Het
Synm	G	T	7: 67,734,938	A550D	possibly damaging	Het
Tanc2	G	A	11: 105,867,717	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,896,547	V891A	possibly damaging	Het
Tlx1	A	T	19: 45,155,974	Q45L	probably damaging	Het
Tmem104	C	A	11: 115,205,523	Y191*	probably null	Het
Tmem17	A	C	11: 22,518,659	*199C	probably null	Het
Tns3	A	T	11: 8,492,578	M595K	possibly damaging	Het
Tyk2	A	G	9: 21,115,960	V538A	probably benign	Het
Unc80	A	G	1: 66,695,568	D3250G	possibly damaging	Het
Usp4	A	G	9: 108,360,123	H130R	possibly damaging	Het
Zfhx2	T	C	14: 55,065,208	Q1773R	probably benign	Het
Zfp790	A	G	7: 29,829,545	K552E	possibly damaging	Het
Zswim5	G	A	4: 116,950,909	R230Q	probably damaging	Het

Other mutations in Setbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Setbp1	APN	18	78755679	nonsense	probably null	0.00
IGL00668:Setbp1	APN	18	78857770	missense	probably damaging	1.00
IGL01628:Setbp1	APN	18	78856777	missense	probably damaging	1.00
IGL02084:Setbp1	APN	18	78857410	missense	probably damaging	1.00
IGL02405:Setbp1	APN	18	78857299	missense	probably damaging	1.00
IGL02427:Setbp1	APN	18	78857473	missense	probably damaging	1.00
IGL02612:Setbp1	APN	18	78755710	missense	probably damaging	1.00
IGL02725:Setbp1	APN	18	78857374	nonsense	probably null
IGL03005:Setbp1	APN	18	78859125	missense	possibly damaging	0.75
IGL03123:Setbp1	APN	18	78857009	missense	probably damaging	1.00
R1083:Setbp1	UTSW	18	78857626	missense	probably damaging	1.00
R1110:Setbp1	UTSW	18	78857860	missense	probably damaging	1.00
R1167:Setbp1	UTSW	18	78857236	missense	possibly damaging	0.85
R1221:Setbp1	UTSW	18	78856583	missense	probably damaging	1.00
R1225:Setbp1	UTSW	18	78858208	missense	probably damaging	0.99
R1327:Setbp1	UTSW	18	78783358	missense	probably benign	0.00
R1481:Setbp1	UTSW	18	78783301	missense	probably benign	0.01
R1482:Setbp1	UTSW	18	79086835	missense	probably damaging	1.00
R1496:Setbp1	UTSW	18	78859912	missense	probably damaging	1.00
R1550:Setbp1	UTSW	18	78858592	missense	probably damaging	1.00
R1708:Setbp1	UTSW	18	78858467	missense	probably damaging	0.99
R1751:Setbp1	UTSW	18	78857398	missense	probably damaging	1.00
R1922:Setbp1	UTSW	18	78858362	missense	possibly damaging	0.75
R1986:Setbp1	UTSW	18	78858544	missense	probably damaging	0.99
R2090:Setbp1	UTSW	18	78856720	missense	probably benign	0.00
R2851:Setbp1	UTSW	18	78923996	missense	probably benign	0.11
R2853:Setbp1	UTSW	18	78923996	missense	probably benign	0.11
R2941:Setbp1	UTSW	18	78858197	missense	probably damaging	1.00
R3151:Setbp1	UTSW	18	78857435	missense	probably damaging	1.00
R3156:Setbp1	UTSW	18	78859303	missense	probably benign	0.00
R3807:Setbp1	UTSW	18	78783322	missense	probably benign	0.01
R4133:Setbp1	UTSW	18	78856991	missense	probably benign	0.05
R4287:Setbp1	UTSW	18	78859061	missense	probably benign	0.03
R4345:Setbp1	UTSW	18	79086579	missense	probably damaging	0.99
R4374:Setbp1	UTSW	18	78859922	missense	probably damaging	0.97
R4377:Setbp1	UTSW	18	78859922	missense	probably damaging	0.97
R4378:Setbp1	UTSW	18	78856618	missense	possibly damaging	0.95
R4379:Setbp1	UTSW	18	79086681	missense	probably damaging	1.00
R4585:Setbp1	UTSW	18	79086949	missense	probably benign	0.00
R4595:Setbp1	UTSW	18	78857516	missense	probably benign	0.00
R4817:Setbp1	UTSW	18	78858800	missense	probably damaging	1.00
R4971:Setbp1	UTSW	18	78858167	missense	probably benign	0.07
R4976:Setbp1	UTSW	18	79086712	missense	probably damaging	1.00
R5017:Setbp1	UTSW	18	78856594	missense	possibly damaging	0.81
R5066:Setbp1	UTSW	18	78857299	missense	probably damaging	1.00
R5133:Setbp1	UTSW	18	78857482	missense	probably damaging	1.00
R5151:Setbp1	UTSW	18	78857999	missense	probably damaging	1.00
R5237:Setbp1	UTSW	18	78856975	missense	possibly damaging	0.92
R5480:Setbp1	UTSW	18	78858063	missense	probably damaging	0.99
R5507:Setbp1	UTSW	18	79086712	missense	probably damaging	1.00
R5529:Setbp1	UTSW	18	79086652	missense	probably damaging	0.99
R5622:Setbp1	UTSW	18	78857485	missense	probably damaging	1.00
R5722:Setbp1	UTSW	18	78856645	missense	possibly damaging	0.95
R5806:Setbp1	UTSW	18	78856482	splice site	probably null
R5940:Setbp1	UTSW	18	78755488	missense	probably damaging	1.00
R6030:Setbp1	UTSW	18	78857711	missense	probably benign	0.02
R6030:Setbp1	UTSW	18	78857711	missense	probably benign	0.02
R6250:Setbp1	UTSW	18	78858002	missense	probably benign	0.00
R6256:Setbp1	UTSW	18	78857257	missense	probably damaging	1.00
R6332:Setbp1	UTSW	18	78783369	missense	probably benign	0.21
R6522:Setbp1	UTSW	18	78857390	missense	probably damaging	0.98
R6873:Setbp1	UTSW	18	78859559	missense	probably benign	0.00
R6886:Setbp1	UTSW	18	78857500	missense	probably damaging	1.00
R6986:Setbp1	UTSW	18	78857839	missense	probably damaging	1.00
R7042:Setbp1	UTSW	18	79086855	missense	probably damaging	1.00
R7131:Setbp1	UTSW	18	79086960	missense	probably benign	0.08
R7134:Setbp1	UTSW	18	78859519	missense	possibly damaging	0.86
R7215:Setbp1	UTSW	18	78856837	missense	probably damaging	0.97
R7219:Setbp1	UTSW	18	78755745	missense	probably damaging	1.00
R7378:Setbp1	UTSW	18	78857486	missense	probably damaging	1.00
R7461:Setbp1	UTSW	18	78856492	missense	probably benign	0.06
R7589:Setbp1	UTSW	18	78856492	missense	probably benign	0.01
R7840:Setbp1	UTSW	18	78783424	missense	probably benign	0.03
R7849:Setbp1	UTSW	18	78856853	missense	probably benign	0.00
R8147:Setbp1	UTSW	18	78856800	missense	probably damaging	1.00
R8354:Setbp1	UTSW	18	78857383	missense	probably damaging	1.00
R8446:Setbp1	UTSW	18	78857756	missense	probably damaging	1.00
R8524:Setbp1	UTSW	18	78858754	missense	probably damaging	1.00
R8534:Setbp1	UTSW	18	78783327	missense	possibly damaging	0.86
R8694:Setbp1	UTSW	18	78858301	missense	probably damaging	1.00
R8931:Setbp1	UTSW	18	78856508	missense	probably benign	0.00
R8983:Setbp1	UTSW	18	78859244	missense	probably benign	0.37
R9062:Setbp1	UTSW	18	78857051	missense	probably benign	0.01
R9113:Setbp1	UTSW	18	78857733	missense	probably damaging	0.99
R9364:Setbp1	UTSW	18	78783384	missense	probably benign	0.00
Z1088:Setbp1	UTSW	18	78859594	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