Mutagenetix > Incidental Mutation

Incidental Mutation 'R7134:Setbp1'

552959

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

045219-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R7134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78750380-79109391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78859519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 311 (D311V)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025430
AA Change: D311V

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: D311V

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (84/85)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 35,959,252	F638S	possibly damaging	Het
Actl6b	T	A	5: 137,564,500	N159K	probably damaging	Het
Adam6a	T	G	12: 113,545,035	S343A	probably benign	Het
Ankrd17	G	A	5: 90,232,314	T2505I	probably damaging	Het
Ankrd17	T	C	5: 90,285,523	T728A	probably benign	Het
Asap2	G	T	12: 21,265,963	E919*	probably null	Het
Atp10b	A	T	11: 43,245,464	I1140F	probably damaging	Het
Cep126	A	T	9: 8,103,382	V209E	probably damaging	Het
Cfap65	C	T	1: 74,926,633	R406Q	probably benign	Het
Cldn1	T	C	16: 26,371,626	M1V	probably null	Het
Cryl1	C	T	14: 57,275,499	D304N	probably benign	Het
D3Ertd751e	T	C	3: 41,753,777		probably null	Het
D630044L22Rik	A	T	17: 25,962,116	M156L	probably benign	Het
Ddx21	T	C	10: 62,591,855	D423G	possibly damaging	Het
Dock2	T	A	11: 34,310,363	M993L	probably benign	Het
Dupd1	A	T	14: 21,677,061	I173N	probably damaging	Het
Eif4g1	C	T	16: 20,681,502	A675V	probably damaging	Het
Eml1	C	T	12: 108,506,551	S206L	probably benign	Het
Farp2	A	C	1: 93,603,459	I560L	probably benign	Het
Fbn1	A	T	2: 125,382,049	D593E	probably benign	Het
Fetub	A	G	16: 22,929,257	D61G	possibly damaging	Het
Fpgs	T	C	2: 32,686,629	K329E	probably benign	Het
Fpgt	T	C	3: 155,091,483	Y45C	probably damaging	Het
Gas2l1	A	T	11: 5,061,106	C574*	probably null	Het
Gm13212	T	A	4: 145,622,805	C271S	possibly damaging	Het
Gm6460	C	T	5: 11,597,739	T148I	possibly damaging	Het
Gm9747	G	T	1: 82,234,116	C12F	unknown	Het
H2-T23	T	C	17: 36,031,817	Y143C	probably damaging	Het
Hhip	A	T	8: 79,992,513	S462T	probably benign	Het
Hnf1a	C	T	5: 114,953,387	G416R	probably damaging	Het
Hoxa5	C	T	6: 52,204,043	C103Y	probably damaging	Het
Kansl3	G	T	1: 36,351,767	D395E	possibly damaging	Het
March10	A	G	11: 105,408,676	S116P	probably benign	Het
Med12l	C	T	3: 59,093,759	Q748*	probably null	Het
Mroh7	T	A	4: 106,720,594	N296Y	probably damaging	Het
Mtbp	T	G	15: 55,558,565	D61E	probably benign	Het
Muc5b	A	T	7: 141,857,654	I1446L	unknown	Het
Myh15	T	C	16: 49,081,342	V266A	possibly damaging	Het
Nap1l1	G	A	10: 111,494,794		probably null	Het
Napsa	A	G	7: 44,585,735	T315A	probably benign	Het
Nlrc5	A	T	8: 94,479,722	I734F	probably damaging	Het
Nnt	A	G	13: 119,394,662	V183A	probably damaging	Het
Nploc4	A	T	11: 120,385,788	D477E	probably benign	Het
Nrip3	A	G	7: 109,765,488	S144P	probably damaging	Het
Ntng1	A	T	3: 109,935,129	F109L	probably benign	Het
Olfr110	T	A	17: 37,498,885	V78D	probably damaging	Het
Olfr303	G	A	7: 86,395,544		probably benign	Het
Olfr485	A	G	7: 108,159,676	Y66H	probably damaging	Het
Olfr883	A	G	9: 38,026,499	E231G	probably benign	Het
Pacsin1	G	A	17: 27,702,733	D30N	probably damaging	Het
Pbld2	A	T	10: 63,024,589		probably benign	Het
Pcnx4	C	T	12: 72,566,976	T565I	probably damaging	Het
Pdzk1	A	T	3: 96,855,930	T225S	probably benign	Het
Phyhip	T	G	14: 70,467,199	I286S	probably benign	Het
Pkd1	T	A	17: 24,594,112	Y3903N	probably damaging	Het
Plcb3	A	T	19: 6,965,330	L222Q	probably damaging	Het
Plcd4	T	A	1: 74,554,503	H262Q	probably benign	Het
Plekhh1	C	T	12: 79,062,616	A474V	probably benign	Het
Plppr3	T	C	10: 79,865,703	E435G	probably damaging	Het
Poln	T	A	5: 34,118,996	N305I	possibly damaging	Het
Pou3f2	T	C	4: 22,486,874	T420A	probably benign	Het
Ppdpf	T	C	2: 181,187,730	Y17H	probably damaging	Het
Prrx2	C	A	2: 30,878,473	T104K	probably damaging	Het
Ptprj	A	T	2: 90,464,478	L462H	probably benign	Het
Radil	T	C	5: 142,485,549	T991A	probably damaging	Het
Rbsn	T	C	6: 92,201,627	E147G	probably damaging	Het
Ror2	C	T	13: 53,146,706	V35M	probably benign	Het
Rps6ka1	T	C	4: 133,872,062	Q18R	probably benign	Het
Setd2	C	T	9: 110,548,797	S560L	possibly damaging	Het
Slc12a5	A	T	2: 164,974,958	I134F	probably damaging	Het
Svil	A	G	18: 5,116,080	D2035G	probably damaging	Het
Syngap1	T	C	17: 26,960,011	Y665H	probably damaging	Het
Tbc1d9b	T	C	11: 50,152,692	Y547H	possibly damaging	Het
Tgm2	A	G	2: 158,138,892	V83A	probably benign	Het
Tmem233	T	C	5: 116,051,370	I117V	probably benign	Het
Tsen34	A	G	7: 3,700,641	T293A	probably damaging	Het
Ttn	A	G	2: 76,878,679	V8752A	unknown	Het
Ubac1	A	G	2: 26,014,962	V88A	probably benign	Het
Uchl4	T	C	9: 64,235,339	V34A	probably damaging	Het
Ugt2a2	C	T	5: 87,460,576	R468H	probably benign	Het
Vmn2r102	A	T	17: 19,677,487	T255S	probably benign	Het
Wdr6	T	A	9: 108,573,365	N988I	probably damaging	Het
Wnk1	A	T	6: 119,926,428	I2359N	unknown	Het
Ybey	A	G	10: 76,468,191	V59A	probably benign	Het
Zfp397	A	G	18: 23,957,065	N142S	probably benign	Het
Zfy1	A	T	Y: 725,788	V659E	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
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
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'- ACTGACGGAACTGATGCTCTG -3'
(R):5'- CGTGGCTTCCTTTGCAAAG -3'

Sequencing Primer
(F):5'- CGATGCCTCTTGAGCACTG -3'
(R):5'- AGTAGCAAAGACCTGCTC -3'

Posted On

2019-05-15