Mutagenetix > Incidental Mutation

Incidental Mutation 'R5237:Setbp1'

398594

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

042808-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R5237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78793595-79152606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78900190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1159 (D1159V)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025430
AA Change: D1159V

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: D1159V

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

possibly damaging
Transcript: ENSMUST00000161465
AA Change: D1159V

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124497
Gene: ENSMUSG00000024548
AA Change: D1159V

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

0.2353

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

100% (76/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,850 (GRCm39)	W369*	probably null	Het
Adamts3	A	T	5: 89,923,236 (GRCm39)	M190K	probably benign	Het
Adamtsl1	T	C	4: 86,303,906 (GRCm39)		probably null	Het
Adcy1	A	T	11: 7,099,553 (GRCm39)	I678L	probably benign	Het
Agtrap	A	G	4: 148,166,817 (GRCm39)	S27P	probably benign	Het
Ankrd24	C	A	10: 81,478,379 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,296,844 (GRCm39)	V383L	probably benign	Het
Ccdc40	T	C	11: 119,150,802 (GRCm39)	V1105A	probably benign	Het
Cenpf	A	T	1: 189,391,730 (GRCm39)	S684T	probably benign	Het
Cog7	A	G	7: 121,550,444 (GRCm39)	L360P	probably damaging	Het
Col12a1	T	A	9: 79,607,544 (GRCm39)	Q428L	probably benign	Het
Col4a1	G	A	8: 11,295,068 (GRCm39)		probably benign	Het
Cpeb2	G	A	5: 43,443,099 (GRCm39)	C930Y	probably damaging	Het
Cul9	T	C	17: 46,854,393 (GRCm39)	D103G	probably benign	Het
Cyb5a	T	G	18: 84,889,689 (GRCm39)	F39L	probably damaging	Het
Cyp2d12	T	A	15: 82,442,207 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,486,690 (GRCm39)		probably null	Het
Efcab9	A	T	11: 32,472,832 (GRCm39)	I205K	probably benign	Het
Ezh1	A	G	11: 101,107,819 (GRCm39)		probably null	Het
Galnt6	C	A	15: 100,591,274 (GRCm39)	C610F	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Gcc1	A	T	6: 28,420,651 (GRCm39)	I222K	probably benign	Het
Gm5591	T	A	7: 38,221,631 (GRCm39)	H146L	probably benign	Het
H2-T23	C	T	17: 36,341,258 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,304,728 (GRCm39)	I3124N	probably benign	Het
Hsf2	C	A	10: 57,382,317 (GRCm39)	D364E	probably benign	Het
Il15ra	A	G	2: 11,738,016 (GRCm39)	T250A	possibly damaging	Het
Large2	T	C	2: 92,197,487 (GRCm39)	E372G	probably benign	Het
Map2	A	G	1: 66,478,169 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,601,609 (GRCm39)	Y524C	probably damaging	Het
Mfsd6l	C	A	11: 68,448,096 (GRCm39)	Q316K	probably benign	Het
Mroh6	T	C	15: 75,757,840 (GRCm39)	T417A	possibly damaging	Het
Mymk	T	C	2: 26,952,200 (GRCm39)	*181W	probably null	Het
Nup210l	A	G	3: 90,087,505 (GRCm39)	T1093A	probably benign	Het
Or10al4	T	A	17: 38,037,268 (GRCm39)	C118S	probably damaging	Het
Or10p1	A	G	10: 129,443,732 (GRCm39)	V206A	probably benign	Het
Or52w1	A	T	7: 105,018,513 (GRCm39)	K327*	probably null	Het
Or8b54	C	T	9: 38,687,252 (GRCm39)	R234W	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pex26	T	A	6: 121,162,806 (GRCm39)	L119Q	probably damaging	Het
Phldb2	T	C	16: 45,568,249 (GRCm39)	I1219V	probably damaging	Het
Plch2	A	G	4: 155,095,251 (GRCm39)	V64A	probably benign	Het
Plekho1	A	G	3: 95,902,937 (GRCm39)	V24A	probably damaging	Het
Pon2	A	C	6: 5,265,455 (GRCm39)	S311A	probably benign	Het
Pramel31	G	T	4: 144,089,041 (GRCm39)	E120*	probably null	Het
Rsrc2	T	C	5: 123,877,645 (GRCm39)		probably benign	Het
Selenov	T	C	7: 27,987,572 (GRCm39)	D295G	probably damaging	Het
Serpina10	T	A	12: 103,595,075 (GRCm39)	Y48F	probably benign	Het
Setx	C	T	2: 29,036,995 (GRCm39)	T1160I	probably benign	Het
Sin3b	A	C	8: 73,459,971 (GRCm39)		probably null	Het
Skint11	A	G	4: 114,102,042 (GRCm39)	K352E	possibly damaging	Het
Slitrk5	T	A	14: 111,919,118 (GRCm39)	V914E	possibly damaging	Het
Srgap1	A	G	10: 121,643,788 (GRCm39)	Y633H	probably damaging	Het
Stard9	A	G	2: 120,529,839 (GRCm39)	D2032G	probably damaging	Het
Sv2c	G	A	13: 96,118,391 (GRCm39)	T486I	possibly damaging	Het
Tesk1	T	C	4: 43,447,100 (GRCm39)	F496S	probably damaging	Het
Tfg	T	A	16: 56,533,071 (GRCm39)	E29D	possibly damaging	Het
Tnc	G	A	4: 63,880,333 (GRCm39)	T2038I	probably damaging	Het
Tor4a	T	G	2: 25,084,976 (GRCm39)	N309T	probably damaging	Het
Trim69	A	G	2: 122,003,821 (GRCm39)	T257A	probably benign	Het
Trpm6	C	T	19: 18,790,828 (GRCm39)	A621V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r6	A	C	6: 56,980,179 (GRCm39)	Q258H	probably damaging	Het
Vmn2r84	A	G	10: 130,221,863 (GRCm39)	C786R	probably damaging	Het
Xylt2	T	C	11: 94,557,953 (GRCm39)	D638G	probably benign	Het
Zfp934	A	G	13: 62,665,652 (GRCm39)	C330R	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
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'- CTTGGAAACCTTGTGGCTGG -3'
(R):5'- CAGCATCCCCTTTCATGAGG -3'

Sequencing Primer
(F):5'- AACCTTGTGGCTGGCCTCC -3'
(R):5'- TCTCATGTAAAGATATCCGGGGC -3'

Posted On

2016-07-06