Mutagenetix > Incidental Mutation

Incidental Mutation 'R8147:Setbp1'

632887

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.485) question?

Stock #

R8147 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78750380-79109391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78856800 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1217 (F1217L)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably damaging
Transcript: ENSMUST00000025430
AA Change: F1217L

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

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: F1217L

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

Meta Mutation Damage Score

0.0734

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.3%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,742,513	E487G	probably damaging	Het
Aldh9a1	T	A	1: 167,357,380	I287N	probably damaging	Het
Aox2	T	A	1: 58,300,662	N371K	probably benign	Het
Atr	T	A	9: 95,899,060	F1392L	probably damaging	Het
Bicra	G	A	7: 15,988,470	P374L	possibly damaging	Het
Cacna1b	C	T	2: 24,679,176	R912Q	probably damaging	Het
Cdhr1	T	C	14: 37,079,652	N778S	probably benign	Het
Col4a3bp	C	T	13: 96,543,228	P22L	probably benign	Het
Dgat2	C	T	7: 99,156,980	V337I	possibly damaging	Het
Dlg5	T	C	14: 24,158,327	D937G	probably benign	Het
Dqx1	T	C	6: 83,060,241	V295A	probably benign	Het
Dsg3	A	G	18: 20,540,073	T934A	probably benign	Het
Fam81b	A	C	13: 76,235,021	V243G	probably damaging	Het
Gen1	A	T	12: 11,255,050		probably null	Het
Glrx3	G	A	7: 137,463,007	S275N	probably benign	Het
Igdcc4	A	T	9: 65,123,971	Q397L	probably benign	Het
Ints6	C	T	14: 62,713,737	G281D	probably damaging	Het
Kalrn	A	T	16: 34,055,044	S1722T	probably benign	Het
Lrrc4b	A	G	7: 44,462,405	D567G	probably damaging	Het
Macf1	A	G	4: 123,491,698	L1200S	probably damaging	Het
Mad1l1	G	A	5: 140,143,979	R434C	probably damaging	Het
Mia3	A	T	1: 183,328,207	F358I		Het
Ncapd3	C	T	9: 27,030,718		probably benign	Het
Nfkb2	A	G	19: 46,307,434	R156G	possibly damaging	Het
Nus1	T	C	10: 52,429,320		probably null	Het
Olfr1107	T	A	2: 87,071,673	I154F	probably benign	Het
Olfr1183	T	C	2: 88,462,083	F267L	possibly damaging	Het
Olfr1252	T	A	2: 89,721,842	I90F	probably damaging	Het
Olfr1384	C	T	11: 49,514,223	T195I	probably benign	Het
Pafah1b2	A	G	9: 45,983,849		probably null	Het
Pold2	T	C	11: 5,876,842	T31A	probably benign	Het
Ppp1r12b	T	C	1: 134,873,942	N512S	possibly damaging	Het
Prl8a8	A	T	13: 27,511,581	L23Q	probably damaging	Het
Ptprb	T	C	10: 116,317,378	V293A	probably damaging	Het
Rpl18a	G	T	8: 70,895,425	T174N	probably damaging	Het
Senp5	A	T	16: 31,989,310	H375Q	probably benign	Het
Skint4	A	G	4: 112,136,021	I314V	probably benign	Het
Slc28a2	A	G	2: 122,458,201	D596G	probably benign	Het
Stat5b	A	G	11: 100,797,781	I285T	probably benign	Het
Sycp3	T	C	10: 88,462,605		probably null	Het
Sympk	T	C	7: 19,036,793	F270L	probably damaging	Het
Taar5	T	C	10: 23,970,851	V49A	probably damaging	Het
Tbx18	C	T	9: 87,724,358	V245I	probably damaging	Het
Tet1	A	G	10: 62,878,807	M403T	probably benign	Het
Tmprss11f	A	T	5: 86,529,910	F333L	probably damaging	Het
Tnpo3	T	C	6: 29,589,214	I46V	probably benign	Het
Traf5	G	T	1: 192,062,684	N112K	probably damaging	Het
Trim12c	A	T	7: 104,341,958	M263K	unknown	Het
Trim55	A	G	3: 19,672,847	I359M	probably benign	Het
Utp20	A	T	10: 88,758,444	W2140R	probably benign	Het
Vgll3	T	C	16: 65,828,078	V104A	probably damaging	Het
Vmn2r74	C	A	7: 85,956,019	G474*	probably null	Het
Vps18	G	A	2: 119,292,756	A98T	probably benign	Het
Zfand4	T	A	6: 116,314,208	S387T	probably damaging	Het
Zfp808	A	G	13: 62,173,120	Y721C	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
R6025:Setbp1	UTSW	18	78859240	missense	probably damaging	0.98
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
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
R9513:Setbp1	UTSW	18	78856566	missense	probably damaging	1.00
R9517:Setbp1	UTSW	18	78858107	missense	probably damaging	0.99
R9549:Setbp1	UTSW	18	78859414	missense	probably benign	0.07
R9554:Setbp1	UTSW	18	78783384	missense	probably benign	0.00
R9680:Setbp1	UTSW	18	78859283	missense	probably benign
R9711:Setbp1	UTSW	18	78856927	missense	probably benign	0.30
Z1088:Setbp1	UTSW	18	78859594	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTACGTCCCAAAGCCTTCAAAG -3'
(R):5'- ACCCATGACAACCTGAGTGG -3'

Sequencing Primer
(F):5'- CGCTGGAAGGATTCATTTCAC -3'
(R):5'- CCTGAGTGGTCTCTTTGCAG -3'

Posted On

2020-06-30