Mutagenetix > Incidental Mutation

Incidental Mutation 'R6886:Setbp1'

536976

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

044980-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.625) question?

Stock #

R6886 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78793595-79152606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78900715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 984 (Y984F)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably damaging
Transcript: ENSMUST00000025430
AA Change: Y984F

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

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: Y984F

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: 99.3%
20x: 97.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	A	T	8: 22,518,706 (GRCm39)	M44K	probably benign	Het
Bad	T	C	19: 6,928,702 (GRCm39)		probably benign	Het
Bbs12	A	G	3: 37,373,390 (GRCm39)	D61G	probably damaging	Het
Bcr	C	T	10: 74,989,769 (GRCm39)	R722C	probably damaging	Het
Carf	C	A	1: 60,175,413 (GRCm39)		probably null	Het
Ccdc181	A	G	1: 164,107,665 (GRCm39)	E116G	probably damaging	Het
Celsr1	A	G	15: 85,915,855 (GRCm39)	V706A	probably benign	Het
Col9a1	T	A	1: 24,224,426 (GRCm39)	S203T	unknown	Het
Ctsl	T	C	13: 64,512,961 (GRCm39)		probably null	Het
Exosc7	A	T	9: 122,965,023 (GRCm39)	E277D	probably benign	Het
Fam20b	A	T	1: 156,518,081 (GRCm39)	W238R	probably damaging	Het
Fanci	A	T	7: 79,070,090 (GRCm39)	H430L	possibly damaging	Het
Fstl4	A	G	11: 53,077,277 (GRCm39)	D678G	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,494,151 (GRCm39)		probably benign	Het
Gm11569	T	A	11: 99,689,247 (GRCm39)		probably benign	Het
Igfn1	G	A	1: 135,901,198 (GRCm39)	R306W	probably damaging	Het
Il6	C	T	5: 30,223,201 (GRCm39)		probably benign	Het
Khdc1c	T	C	1: 21,439,749 (GRCm39)	L100P	possibly damaging	Het
Kif18a	G	A	2: 109,127,008 (GRCm39)	R314H	probably damaging	Het
Kif26b	A	C	1: 178,701,703 (GRCm39)	K694T	probably damaging	Het
Kndc1	A	G	7: 139,493,485 (GRCm39)	T484A	probably benign	Het
Lonrf1	T	C	8: 36,696,191 (GRCm39)		probably null	Het
Man1a2	C	T	3: 100,563,387 (GRCm39)	G169D	probably benign	Het
Med6	G	T	12: 81,638,159 (GRCm39)	D17E	probably damaging	Het
Neb	T	C	2: 52,110,236 (GRCm39)	K204R	probably damaging	Het
Nhlrc1	T	A	13: 47,167,252 (GRCm39)	N335I	possibly damaging	Het
Nlrp12	T	C	7: 3,289,313 (GRCm39)	M400V	probably benign	Het
Or7e173	G	T	9: 19,938,428 (GRCm39)	H269N	probably benign	Het
Or8k22	A	T	2: 86,163,408 (GRCm39)	C97*	probably null	Het
Pkhd1	C	T	1: 20,417,504 (GRCm39)	S2549N	probably benign	Het
Pramel26	A	G	4: 143,539,332 (GRCm39)	F54L	probably benign	Het
Rab4b	A	C	7: 26,872,381 (GRCm39)	L145R	probably damaging	Het
Rad50	T	C	11: 53,577,011 (GRCm39)	I526V	probably benign	Het
Rel	T	C	11: 23,694,304 (GRCm39)	H309R	probably benign	Het
Rnf2	G	T	1: 151,349,017 (GRCm39)	N34K	possibly damaging	Het
Serpina3m	G	T	12: 104,355,386 (GRCm39)	V18F	possibly damaging	Het
Serpinb9c	T	C	13: 33,334,310 (GRCm39)	K244R	probably benign	Het
Slc12a5	T	A	2: 164,824,825 (GRCm39)	M410K	probably benign	Het
Smarca4	C	T	9: 21,570,127 (GRCm39)	A710V	probably damaging	Het
Snx19	C	A	9: 30,340,231 (GRCm39)	D456E	probably damaging	Het
Ssrp1	T	A	2: 84,870,280 (GRCm39)	D101E	probably benign	Het
Tax1bp1	A	T	6: 52,710,208 (GRCm39)	E162D	probably benign	Het
Tenm4	T	A	7: 96,446,599 (GRCm39)	M823K	possibly damaging	Het
Tesk1	A	G	4: 43,443,592 (GRCm39)	D53G	possibly damaging	Het
Tnrc6a	T	A	7: 122,786,668 (GRCm39)	S1577T	probably benign	Het
Tpr	A	G	1: 150,299,716 (GRCm39)	I1270V	probably benign	Het
Trp53bp2	T	C	1: 182,256,608 (GRCm39)		probably null	Het
Ube4a	A	T	9: 44,860,141 (GRCm39)	I307N	probably damaging	Het
Unc13b	A	G	4: 43,170,156 (GRCm39)		probably benign	Het
Vmn2r3	T	C	3: 64,166,927 (GRCm39)	K735E	probably damaging	Het
Vmn2r54	A	G	7: 12,366,080 (GRCm39)	F285L	probably benign	Het
Vmn2r81	T	G	10: 79,103,988 (GRCm39)	S204A	possibly damaging	Het
Washc1	A	G	17: 66,426,061 (GRCm39)	D453G	probably damaging	Het
Zfp329	T	A	7: 12,544,025 (GRCm39)	I500L	probably benign	Het
Zfp516	A	G	18: 82,975,125 (GRCm39)	D441G	probably benign	Het
Zfp644	T	C	5: 106,785,777 (GRCm39)	T257A	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
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
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
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'- GGGTGCATAGTAACTTCCACTG -3'
(R):5'- CCGGCAGAAGCATCTCATTG -3'

Sequencing Primer
(F):5'- TCCACTGGGGATAGGGTAGC -3'
(R):5'- GAAGCATCTCATTGTGGACAC -3'

Posted On

2018-10-18