Mutagenetix > Incidental Mutation

Incidental Mutation 'R4377:Setbp1'

325172

Institutional Source

Beutler Lab

Gene Symbol

Setbp1

Ensembl Gene

ENSMUSG00000024548

Gene Name

SET binding protein 1

Synonyms

Seb

MMRRC Submission

041676-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R4377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78750380-79109391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78859922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 177 (R177G)

Ref Sequence

ENSEMBL: ENSMUSP00000025430 (fasta)

Gene Model

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

AlphaFold

Q9Z180

Predicted Effect

probably damaging
Transcript: ENSMUST00000025430
AA Change: R177G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: R177G

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: R177G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124497
Gene: ENSMUSG00000024548
AA Change: R177G

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

0.2440

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (57/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	A	14: 49,770,436 (GRCm38)	T527S	probably damaging	Het
Adck5	A	G	15: 76,594,335 (GRCm38)		probably benign	Het
Arhgap22	A	G	14: 33,369,510 (GRCm38)	M681V	probably damaging	Het
Atp10d	T	C	5: 72,296,975 (GRCm38)	L189P	probably damaging	Het
BC034090	A	G	1: 155,232,450 (GRCm38)	C384R	probably benign	Het
C330007P06Rik	C	A	X: 36,824,159 (GRCm38)	C206F	probably benign	Het
Ccdc180	T	A	4: 45,941,877 (GRCm38)	L1380Q	probably damaging	Het
Cd209c	T	C	8: 3,954,635 (GRCm38)		noncoding transcript	Het
Cenpp	A	G	13: 49,494,431 (GRCm38)		probably benign	Het
Csf1	T	A	3: 107,756,739 (GRCm38)	T38S	probably damaging	Het
Csn1s2a	T	C	5: 87,775,821 (GRCm38)	V12A	probably benign	Het
Dapk1	A	G	13: 60,719,684 (GRCm38)	D235G	probably benign	Het
Espl1	A	G	15: 102,312,989 (GRCm38)	I944V	probably damaging	Het
Frmd3	T	A	4: 74,128,298 (GRCm38)		probably null	Het
Gart	G	A	16: 91,634,094 (GRCm38)	A360V	probably benign	Het
Gm7251	T	A	13: 49,805,200 (GRCm38)		noncoding transcript	Het
Gon4l	C	A	3: 88,907,387 (GRCm38)	P1888T	probably benign	Het
Hk1	C	A	10: 62,315,540 (GRCm38)	K10N	probably damaging	Het
Itgal	A	G	7: 127,328,281 (GRCm38)	Y981C	probably benign	Het
Kcp	C	T	6: 29,493,203 (GRCm38)	C107Y	probably damaging	Het
Kdm2a	C	T	19: 4,329,054 (GRCm38)	V138M	probably benign	Het
Kit	T	C	5: 75,640,499 (GRCm38)	I515T	probably benign	Het
Kmt2c	C	T	5: 25,315,326 (GRCm38)	V1929I	probably benign	Het
Krt33a	T	C	11: 100,012,427 (GRCm38)	E263G	possibly damaging	Het
Mark2	T	C	19: 7,290,689 (GRCm38)	I50V	possibly damaging	Het
Mug2	G	T	6: 122,071,007 (GRCm38)		probably null	Het
Mvk	A	G	5: 114,452,961 (GRCm38)		probably benign	Het
Myh6	T	A	14: 54,962,108 (GRCm38)	I249F	probably damaging	Het
Naa15	T	C	3: 51,448,365 (GRCm38)	I229T	possibly damaging	Het
Napb	A	C	2: 148,732,264 (GRCm38)		probably null	Het
Ncoa3	T	G	2: 166,054,497 (GRCm38)	L440R	possibly damaging	Het
Olfr608	T	C	7: 103,470,071 (GRCm38)	S11P	probably damaging	Het
Olfr965	T	A	9: 39,719,807 (GRCm38)	F193L	probably benign	Het
Osbpl8	T	A	10: 111,269,419 (GRCm38)	I245N	possibly damaging	Het
Pdia4	G	A	6: 47,798,392 (GRCm38)	R495W	probably damaging	Het
Pfn4	T	A	12: 4,770,182 (GRCm38)	D10E	probably damaging	Het
Plekha5	T	C	6: 140,579,465 (GRCm38)	Y376H	probably damaging	Het
Pole	T	A	5: 110,337,205 (GRCm38)	I395K	possibly damaging	Het
Prcc	A	G	3: 87,867,407 (GRCm38)	Y363H	probably damaging	Het
Ptprc	A	T	1: 138,067,925 (GRCm38)	M982K	probably benign	Het
Ptpro	T	A	6: 137,380,266 (GRCm38)	F252I	probably benign	Het
Pusl1	A	G	4: 155,890,580 (GRCm38)	V188A	probably benign	Het
Rad54l2	A	G	9: 106,693,222 (GRCm38)	S1300P	probably benign	Het
Rpl11	G	A	4: 136,051,143 (GRCm38)		probably benign	Het
Rtel1	T	A	2: 181,355,796 (GRCm38)	H1104Q	probably damaging	Het
Skint6	T	C	4: 113,236,518 (GRCm38)	T143A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc23l	G	A	15: 10,537,566 (GRCm38)	S206L	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562 (GRCm38)		probably benign	Het
Zfp583	A	G	7: 6,317,681 (GRCm38)	S111P	possibly damaging	Het
Zmiz1	T	C	14: 25,636,010 (GRCm38)	S140P	probably damaging	Het

Other mutations in Setbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Setbp1	APN	18	78,755,679 (GRCm38)	nonsense	probably null	0.00
IGL00668:Setbp1	APN	18	78,857,770 (GRCm38)	missense	probably damaging	1.00
IGL01628:Setbp1	APN	18	78,856,777 (GRCm38)	missense	probably damaging	1.00
IGL02084:Setbp1	APN	18	78,857,410 (GRCm38)	missense	probably damaging	1.00
IGL02405:Setbp1	APN	18	78,857,299 (GRCm38)	missense	probably damaging	1.00
IGL02427:Setbp1	APN	18	78,857,473 (GRCm38)	missense	probably damaging	1.00
IGL02612:Setbp1	APN	18	78,755,710 (GRCm38)	missense	probably damaging	1.00
IGL02725:Setbp1	APN	18	78,857,374 (GRCm38)	nonsense	probably null
IGL03005:Setbp1	APN	18	78,859,125 (GRCm38)	missense	possibly damaging	0.75
IGL03123:Setbp1	APN	18	78,857,009 (GRCm38)	missense	probably damaging	1.00
R1083:Setbp1	UTSW	18	78,857,626 (GRCm38)	missense	probably damaging	1.00
R1110:Setbp1	UTSW	18	78,857,860 (GRCm38)	missense	probably damaging	1.00
R1167:Setbp1	UTSW	18	78,857,236 (GRCm38)	missense	possibly damaging	0.85
R1221:Setbp1	UTSW	18	78,856,583 (GRCm38)	missense	probably damaging	1.00
R1225:Setbp1	UTSW	18	78,858,208 (GRCm38)	missense	probably damaging	0.99
R1327:Setbp1	UTSW	18	78,783,358 (GRCm38)	missense	probably benign	0.00
R1481:Setbp1	UTSW	18	78,783,301 (GRCm38)	missense	probably benign	0.01
R1482:Setbp1	UTSW	18	79,086,835 (GRCm38)	missense	probably damaging	1.00
R1496:Setbp1	UTSW	18	78,859,912 (GRCm38)	missense	probably damaging	1.00
R1550:Setbp1	UTSW	18	78,858,592 (GRCm38)	missense	probably damaging	1.00
R1708:Setbp1	UTSW	18	78,858,467 (GRCm38)	missense	probably damaging	0.99
R1751:Setbp1	UTSW	18	78,857,398 (GRCm38)	missense	probably damaging	1.00
R1922:Setbp1	UTSW	18	78,858,362 (GRCm38)	missense	possibly damaging	0.75
R1986:Setbp1	UTSW	18	78,858,544 (GRCm38)	missense	probably damaging	0.99
R2090:Setbp1	UTSW	18	78,856,720 (GRCm38)	missense	probably benign	0.00
R2851:Setbp1	UTSW	18	78,923,996 (GRCm38)	missense	probably benign	0.11
R2853:Setbp1	UTSW	18	78,923,996 (GRCm38)	missense	probably benign	0.11
R2941:Setbp1	UTSW	18	78,858,197 (GRCm38)	missense	probably damaging	1.00
R3151:Setbp1	UTSW	18	78,857,435 (GRCm38)	missense	probably damaging	1.00
R3156:Setbp1	UTSW	18	78,859,303 (GRCm38)	missense	probably benign	0.00
R3807:Setbp1	UTSW	18	78,783,322 (GRCm38)	missense	probably benign	0.01
R4133:Setbp1	UTSW	18	78,856,991 (GRCm38)	missense	probably benign	0.05
R4287:Setbp1	UTSW	18	78,859,061 (GRCm38)	missense	probably benign	0.03
R4345:Setbp1	UTSW	18	79,086,579 (GRCm38)	missense	probably damaging	0.99
R4374:Setbp1	UTSW	18	78,859,922 (GRCm38)	missense	probably damaging	0.97
R4378:Setbp1	UTSW	18	78,856,618 (GRCm38)	missense	possibly damaging	0.95
R4379:Setbp1	UTSW	18	79,086,681 (GRCm38)	missense	probably damaging	1.00
R4585:Setbp1	UTSW	18	79,086,949 (GRCm38)	missense	probably benign	0.00
R4595:Setbp1	UTSW	18	78,857,516 (GRCm38)	missense	probably benign	0.00
R4817:Setbp1	UTSW	18	78,858,800 (GRCm38)	missense	probably damaging	1.00
R4971:Setbp1	UTSW	18	78,858,167 (GRCm38)	missense	probably benign	0.07
R4976:Setbp1	UTSW	18	79,086,712 (GRCm38)	missense	probably damaging	1.00
R5017:Setbp1	UTSW	18	78,856,594 (GRCm38)	missense	possibly damaging	0.81
R5066:Setbp1	UTSW	18	78,857,299 (GRCm38)	missense	probably damaging	1.00
R5133:Setbp1	UTSW	18	78,857,482 (GRCm38)	missense	probably damaging	1.00
R5151:Setbp1	UTSW	18	78,857,999 (GRCm38)	missense	probably damaging	1.00
R5237:Setbp1	UTSW	18	78,856,975 (GRCm38)	missense	possibly damaging	0.92
R5480:Setbp1	UTSW	18	78,858,063 (GRCm38)	missense	probably damaging	0.99
R5507:Setbp1	UTSW	18	79,086,712 (GRCm38)	missense	probably damaging	1.00
R5529:Setbp1	UTSW	18	79,086,652 (GRCm38)	missense	probably damaging	0.99
R5622:Setbp1	UTSW	18	78,857,485 (GRCm38)	missense	probably damaging	1.00
R5722:Setbp1	UTSW	18	78,856,645 (GRCm38)	missense	possibly damaging	0.95
R5806:Setbp1	UTSW	18	78,856,482 (GRCm38)	splice site	probably null
R5940:Setbp1	UTSW	18	78,755,488 (GRCm38)	missense	probably damaging	1.00
R6025:Setbp1	UTSW	18	78,859,240 (GRCm38)	missense	probably damaging	0.98
R6030:Setbp1	UTSW	18	78,857,711 (GRCm38)	missense	probably benign	0.02
R6030:Setbp1	UTSW	18	78,857,711 (GRCm38)	missense	probably benign	0.02
R6250:Setbp1	UTSW	18	78,858,002 (GRCm38)	missense	probably benign	0.00
R6256:Setbp1	UTSW	18	78,857,257 (GRCm38)	missense	probably damaging	1.00
R6332:Setbp1	UTSW	18	78,783,369 (GRCm38)	missense	probably benign	0.21
R6522:Setbp1	UTSW	18	78,857,390 (GRCm38)	missense	probably damaging	0.98
R6873:Setbp1	UTSW	18	78,859,559 (GRCm38)	missense	probably benign	0.00
R6886:Setbp1	UTSW	18	78,857,500 (GRCm38)	missense	probably damaging	1.00
R6986:Setbp1	UTSW	18	78,857,839 (GRCm38)	missense	probably damaging	1.00
R7042:Setbp1	UTSW	18	79,086,855 (GRCm38)	missense	probably damaging	1.00
R7131:Setbp1	UTSW	18	79,086,960 (GRCm38)	missense	probably benign	0.08
R7134:Setbp1	UTSW	18	78,859,519 (GRCm38)	missense	possibly damaging	0.86
R7215:Setbp1	UTSW	18	78,856,837 (GRCm38)	missense	probably damaging	0.97
R7219:Setbp1	UTSW	18	78,755,745 (GRCm38)	missense	probably damaging	1.00
R7378:Setbp1	UTSW	18	78,857,486 (GRCm38)	missense	probably damaging	1.00
R7461:Setbp1	UTSW	18	78,856,492 (GRCm38)	missense	probably benign	0.06
R7589:Setbp1	UTSW	18	78,856,492 (GRCm38)	missense	probably benign	0.01
R7840:Setbp1	UTSW	18	78,783,424 (GRCm38)	missense	probably benign	0.03
R7849:Setbp1	UTSW	18	78,856,853 (GRCm38)	missense	probably benign	0.00
R8147:Setbp1	UTSW	18	78,856,800 (GRCm38)	missense	probably damaging	1.00
R8354:Setbp1	UTSW	18	78,857,383 (GRCm38)	missense	probably damaging	1.00
R8446:Setbp1	UTSW	18	78,857,756 (GRCm38)	missense	probably damaging	1.00
R8524:Setbp1	UTSW	18	78,858,754 (GRCm38)	missense	probably damaging	1.00
R8534:Setbp1	UTSW	18	78,783,327 (GRCm38)	missense	possibly damaging	0.86
R8694:Setbp1	UTSW	18	78,858,301 (GRCm38)	missense	probably damaging	1.00
R8931:Setbp1	UTSW	18	78,856,508 (GRCm38)	missense	probably benign	0.00
R8983:Setbp1	UTSW	18	78,859,244 (GRCm38)	missense	probably benign	0.37
R9062:Setbp1	UTSW	18	78,857,051 (GRCm38)	missense	probably benign	0.01
R9113:Setbp1	UTSW	18	78,857,733 (GRCm38)	missense	probably damaging	0.99
R9364:Setbp1	UTSW	18	78,783,384 (GRCm38)	missense	probably benign	0.00
R9513:Setbp1	UTSW	18	78,856,566 (GRCm38)	missense	probably damaging	1.00
R9517:Setbp1	UTSW	18	78,858,107 (GRCm38)	missense	probably damaging	0.99
R9549:Setbp1	UTSW	18	78,859,414 (GRCm38)	missense	probably benign	0.07
R9554:Setbp1	UTSW	18	78,783,384 (GRCm38)	missense	probably benign	0.00
R9680:Setbp1	UTSW	18	78,859,283 (GRCm38)	missense	probably benign
R9711:Setbp1	UTSW	18	78,856,927 (GRCm38)	missense	probably benign	0.30
Z1088:Setbp1	UTSW	18	78,859,594 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCCTCTGGACTGATGAAGC -3'
(R):5'- CCTTGCTAATGTCCAAATTCAGTG -3'

Sequencing Primer
(F):5'- GCCTCTGGACTGATGAAGCAATTC -3'
(R):5'- ATATTTGAGAAAAGCTCCCCTCTC -3'

Posted On

2015-07-06