Mutagenetix > Incidental Mutation

Incidental Mutation 'R4976:Setbp1'

382721

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

042571-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R4976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78793595-79152606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79129927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 102 (T102S)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably damaging
Transcript: ENSMUST00000025430
AA Change: T102S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: T102S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161465
AA Change: T102S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124497
Gene: ENSMUSG00000024548
AA Change: T102S

Domain	Start	End	E-Value	Type
low complexity region	46	55	N/A	INTRINSIC
low complexity region	202	212	N/A	INTRINSIC
low complexity region	268	298	N/A	INTRINSIC
low complexity region	325	333	N/A	INTRINSIC
AT_hook	575	587	4.64e-1	SMART
low complexity region	612	618	N/A	INTRINSIC
low complexity region	641	664	N/A	INTRINSIC
low complexity region	925	934	N/A	INTRINSIC
AT_hook	1007	1019	1.89e-1	SMART
low complexity region	1133	1150	N/A	INTRINSIC
low complexity region	1363	1384	N/A	INTRINSIC
AT_hook	1440	1452	7.27e-1	SMART
low complexity region	1509	1533	N/A	INTRINSIC
low complexity region	1545	1561	N/A	INTRINSIC

Meta Mutation Damage Score

0.1056

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.4%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,387 (GRCm39)	Y113*	probably null	Het
Abcc2	C	T	19: 43,789,074 (GRCm39)	T243M	probably benign	Het
Actr6	A	T	10: 89,561,717 (GRCm39)	L143Q	probably damaging	Het
Adamts18	A	G	8: 114,425,642 (GRCm39)	Y1207H	probably benign	Het
Adamts2	A	G	11: 50,628,193 (GRCm39)	I298V	possibly damaging	Het
Adamts6	T	A	13: 104,433,998 (GRCm39)	S142R	probably damaging	Het
Adat2	A	T	10: 13,432,650 (GRCm39)	N51Y	probably damaging	Het
Alg6	G	A	4: 99,638,965 (GRCm39)		probably null	Het
Aoc3	T	A	11: 101,221,800 (GRCm39)	L12Q	probably damaging	Het
Aox3	G	A	1: 58,227,683 (GRCm39)		probably null	Het
Atp2b2	T	A	6: 113,736,122 (GRCm39)	I986F	probably damaging	Het
Axin1	G	T	17: 26,413,045 (GRCm39)	Q779H	probably benign	Het
Axin1	A	T	17: 26,413,044 (GRCm39)	Q779L	probably benign	Het
Bltp3a	T	C	17: 28,103,000 (GRCm39)	S345P	probably damaging	Het
Btaf1	T	C	19: 36,963,979 (GRCm39)	V850A	probably benign	Het
Camsap2	A	G	1: 136,232,124 (GRCm39)	V157A	probably damaging	Het
Ccdc191	T	C	16: 43,763,868 (GRCm39)	V443A	probably benign	Het
Cd1d1	T	A	3: 86,905,958 (GRCm39)	M106L	probably benign	Het
Cenpe	A	G	3: 134,940,637 (GRCm39)	D632G	probably damaging	Het
Cnih2	T	A	19: 5,143,957 (GRCm39)		probably null	Het
Crnkl1	G	T	2: 145,765,796 (GRCm39)	Q425K	possibly damaging	Het
Crnn	T	A	3: 93,055,990 (GRCm39)	S259T	probably benign	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctc1	G	T	11: 68,918,152 (GRCm39)	G425C	probably damaging	Het
Dctn4	T	A	18: 60,689,464 (GRCm39)	I445N	probably benign	Het
Dnah7a	A	T	1: 53,737,851 (GRCm39)	D27E	probably benign	Het
Dock10	A	T	1: 80,545,711 (GRCm39)		probably null	Het
Dst	A	T	1: 34,235,050 (GRCm39)	K3710*	probably null	Het
Ecel1	T	A	1: 87,078,861 (GRCm39)	Y526F	probably benign	Het
Elp6	C	T	9: 110,143,141 (GRCm39)	P118L	probably damaging	Het
Enpp2	T	A	15: 54,733,701 (GRCm39)	R420*	probably null	Het
Ep400	A	G	5: 110,846,678 (GRCm39)	F1480L	unknown	Het
Ep400	T	C	5: 110,868,622 (GRCm39)	E934G	unknown	Het
Epb41	A	C	4: 131,664,747 (GRCm39)		probably benign	Het
Epha5	A	T	5: 84,232,683 (GRCm39)	V777E	probably damaging	Het
Erp44	A	T	4: 48,208,797 (GRCm39)	M221K	probably benign	Het
Esp36	T	C	17: 38,728,177 (GRCm39)	T35A	possibly damaging	Het
Flvcr1	T	C	1: 190,757,692 (GRCm39)	Q158R	probably damaging	Het
Fsip2	A	T	2: 82,818,535 (GRCm39)	D4756V	probably damaging	Het
Fzd10	T	A	5: 128,679,178 (GRCm39)	Y299*	probably null	Het
Gabrg1	C	A	5: 70,931,754 (GRCm39)	V330L	possibly damaging	Het
Gata4	A	T	14: 63,441,138 (GRCm39)	N87K	probably damaging	Het
Gdpd3	A	T	7: 126,366,454 (GRCm39)	N97I	probably damaging	Het
Gm28042	G	A	2: 119,865,124 (GRCm39)	A250T	probably damaging	Het
Golim4	T	C	3: 75,785,950 (GRCm39)		probably null	Het
Gpr183	G	T	14: 122,192,275 (GRCm39)	T82N	possibly damaging	Het
Hsd17b4	T	C	18: 50,293,202 (GRCm39)	L247S	probably damaging	Het
Hsdl1	T	A	8: 120,292,606 (GRCm39)	Y203F	possibly damaging	Het
Igkv17-121	A	G	6: 68,014,068 (GRCm39)	K40R	probably benign	Het
Igsf3	T	A	3: 101,346,677 (GRCm39)		probably null	Het
Ints1	C	A	5: 139,738,566 (GRCm39)	G110C	probably damaging	Het
Klhdc8b	A	T	9: 108,328,386 (GRCm39)	V22E	probably damaging	Het
Kmt2d	G	A	15: 98,745,075 (GRCm39)		probably benign	Het
Kpna2	C	T	11: 106,882,295 (GRCm39)	G204S	probably damaging	Het
Ktn1	G	A	14: 47,907,756 (GRCm39)		probably null	Het
Ldah	G	A	12: 8,277,237 (GRCm39)	A58T	probably benign	Het
Lmx1a	G	T	1: 167,619,123 (GRCm39)	A161S	possibly damaging	Het
Lrig1	T	C	6: 94,602,043 (GRCm39)	Y270C	probably damaging	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Ltbp1	T	C	17: 75,628,090 (GRCm39)		probably null	Het
Luzp1	A	G	4: 136,270,708 (GRCm39)	D977G	possibly damaging	Het
Mbd4	T	C	6: 115,827,685 (GRCm39)	T43A	possibly damaging	Het
Meak7	A	C	8: 120,494,882 (GRCm39)	L292R	probably damaging	Het
Meltf	T	C	16: 31,713,532 (GRCm39)	S592P	probably benign	Het
Mrgpra4	A	G	7: 47,631,466 (GRCm39)	L45P	probably damaging	Het
Mrpl39	A	G	16: 84,531,293 (GRCm39)		probably null	Het
Myocd	T	C	11: 65,112,876 (GRCm39)	T79A	probably benign	Het
Myt1l	A	G	12: 29,882,302 (GRCm39)	E499G	unknown	Het
Ncan	C	T	8: 70,567,675 (GRCm39)	E146K	probably damaging	Het
Ncoa3	T	A	2: 165,889,820 (GRCm39)	D68E	probably damaging	Het
Nt5m	T	A	11: 59,765,381 (GRCm39)	Y136*	probably null	Het
Or10h5	C	T	17: 33,434,728 (GRCm39)	A200T	probably benign	Het
Or4c12	A	T	2: 89,774,147 (GRCm39)	I104N	possibly damaging	Het
Or51m1	A	T	7: 103,578,944 (GRCm39)	I305F	probably benign	Het
Or5p66	A	C	7: 107,885,818 (GRCm39)	C172G	probably damaging	Het
Or7g21	G	A	9: 19,032,797 (GRCm39)	C179Y	probably damaging	Het
Pak6	A	T	2: 118,525,029 (GRCm39)	I552F	probably damaging	Het
Pcyox1	T	A	6: 86,365,708 (GRCm39)	K502M	probably damaging	Het
Phyhipl	A	T	10: 70,404,904 (GRCm39)	D56E	probably damaging	Het
Ppp2r2a	A	T	14: 67,254,086 (GRCm39)	S361T	possibly damaging	Het
Prim1	A	T	10: 127,851,131 (GRCm39)	D5V	probably damaging	Het
Prl7a1	A	T	13: 27,817,564 (GRCm39)	H233Q	possibly damaging	Het
Prpf40a	A	G	2: 53,034,861 (GRCm39)	F776L	probably damaging	Het
Psmb1	T	C	17: 15,718,524 (GRCm39)	M1V	probably null	Het
Reln	T	A	5: 22,176,868 (GRCm39)	N1933Y	probably benign	Het
Retsat	T	A	6: 72,578,609 (GRCm39)	M107K	probably damaging	Het
Rhbdl1	C	T	17: 26,054,002 (GRCm39)	W289*	probably null	Het
Rlf	G	A	4: 121,004,652 (GRCm39)	H1443Y	probably damaging	Het
Rpgrip1l	T	C	8: 92,007,444 (GRCm39)	E382G	probably damaging	Het
Rprd2	T	A	3: 95,673,661 (GRCm39)	T497S	probably damaging	Het
Rps6kc1	T	C	1: 190,530,924 (GRCm39)	T936A	probably damaging	Het
Scgb1b10	A	G	7: 31,800,609 (GRCm39)	Q66R	possibly damaging	Het
Scrib	C	T	15: 75,923,602 (GRCm39)		probably null	Het
Shox2	T	C	3: 66,881,008 (GRCm39)		probably benign	Het
Skp1	C	A	11: 52,134,458 (GRCm39)	T63N	probably benign	Het
Slc10a6	C	T	5: 103,754,470 (GRCm39)	V354M	probably benign	Het
Slc35f3	T	C	8: 127,116,020 (GRCm39)		probably null	Het
Slc8b1	T	A	5: 120,663,740 (GRCm39)	L320*	probably null	Het
Snap29	T	A	16: 17,237,132 (GRCm39)	L81Q	probably damaging	Het
Sorl1	A	G	9: 41,894,299 (GRCm39)	I1837T	probably benign	Het
Spmip4	T	A	6: 50,566,164 (GRCm39)		probably null	Het
Tacr3	A	G	3: 134,638,033 (GRCm39)	T397A	probably benign	Het
Tcte1	T	C	17: 45,845,854 (GRCm39)	F153L	probably damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tmprss4	A	G	9: 45,084,706 (GRCm39)	S433P	possibly damaging	Het
Tpcn1	T	C	5: 120,698,387 (GRCm39)	H45R	probably benign	Het
Vps13d	A	G	4: 144,832,468 (GRCm39)	S2813P	possibly damaging	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Zbed6	T	C	1: 133,585,832 (GRCm39)	T502A	probably benign	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	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
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
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'- TTGGTGGCAGAATAGCAAAACC -3'
(R):5'- AAAGGCATCTCTGTGGGTG -3'

Sequencing Primer
(F):5'- AAACTTGCAAGGCGCGGTTC -3'
(R):5'- CATCTCTGTGGGTGGAGAAC -3'

Posted On

2016-04-27