Mutagenetix > Incidental Mutation

Incidental Mutation 'R3887:Scube2'

309699

Institutional Source

Beutler Lab

Gene Symbol

Scube2

Ensembl Gene

ENSMUSG00000007279

Gene Name

signal peptide, CUB domain, EGF-like 2

Synonyms

ICRFP703N2430Q5.1, 4932442O19Rik, Cegf1, ICRFP703B1614Q5.1

MMRRC Submission

040799-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.554) question?

Stock #

R3887 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109798676-109865679 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 109843176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007423] [ENSMUST00000106728] [ENSMUST00000106729]

AlphaFold

Q9JJS0

Predicted Effect

probably benign
Transcript: ENSMUST00000007423

SMART Domains

Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	43	83	7.01e-10	SMART
EGF_CA	84	125	1.79e-7	SMART
EGF_CA	126	166	1.5e-9	SMART
EGF	174	212	2.19e-2	SMART
EGF	214	251	4.89e0	SMART
EGF	283	320	5.12e-3	SMART
EGF_CA	321	361	3.7e-9	SMART
EGF_CA	362	400	1.85e-9	SMART
EGF_CA	401	441	2.48e-10	SMART
low complexity region	479	490	N/A	INTRINSIC
low complexity region	577	594	N/A	INTRINSIC
Pfam:GCC2_GCC3	642	692	7.2e-19	PFAM
Pfam:GCC2_GCC3	699	746	2e-16	PFAM
Pfam:GCC2_GCC3	755	802	3.1e-18	PFAM
CUB	807	919	1.23e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106728

SMART Domains

Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	43	83	7.01e-10	SMART
EGF_CA	84	125	1.79e-7	SMART
EGF_CA	126	166	1.5e-9	SMART
EGF	174	212	2.19e-2	SMART
EGF	214	251	4.89e0	SMART
EGF	283	320	5.12e-3	SMART
EGF_CA	321	361	3.7e-9	SMART
EGF_CA	362	400	1.85e-9	SMART
EGF_CA	401	441	2.48e-10	SMART
low complexity region	451	468	N/A	INTRINSIC
Pfam:GCC2_GCC3	516	566	6.4e-17	PFAM
Pfam:GCC2_GCC3	573	620	3.5e-14	PFAM
Pfam:GCC2_GCC3	629	676	5.4e-16	PFAM
Blast:CUB	678	727	2e-25	BLAST
Blast:CUB	730	796	1e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106729

SMART Domains

Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	43	83	7.01e-10	SMART
EGF_CA	84	125	1.79e-7	SMART
EGF_CA	126	166	1.5e-9	SMART
EGF	174	212	2.19e-2	SMART
EGF	214	251	4.89e0	SMART
EGF	283	320	5.12e-3	SMART
EGF_CA	321	361	3.7e-9	SMART
EGF_CA	362	400	1.85e-9	SMART
EGF_CA	401	441	2.48e-10	SMART
low complexity region	605	622	N/A	INTRINSIC
Pfam:GCC2_GCC3	670	717	1.8e-16	PFAM
Pfam:GCC2_GCC3	726	773	2.7e-18	PFAM
CUB	778	890	1.23e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132113

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (40/40)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation are smaller than controls. Mice also exhibit defective endochondral bone formation and impaired Ihh-mediated chondrocyte differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,940,551		probably null	Het
Ankdd1a	C	A	9: 65,502,248	G469W	probably damaging	Het
Ano6	A	C	15: 95,894,449	T65P	possibly damaging	Het
Arhgap26	G	A	18: 39,229,966		probably null	Het
Ccdc175	A	G	12: 72,136,048	I399T	possibly damaging	Het
Ceacam14	T	A	7: 17,814,138	V51D	probably damaging	Het
Cerk	A	T	15: 86,149,331	I297N	possibly damaging	Het
Cps1	C	A	1: 67,165,500	T493K	possibly damaging	Het
Dmxl1	T	A	18: 49,878,259	M1161K	probably damaging	Het
Efcab14	T	A	4: 115,738,660	M1K	probably null	Het
Etl4	C	T	2: 20,529,961	Q76*	probably null	Het
Fmc1	T	C	6: 38,539,288	S90P	probably benign	Het
Fn1	T	C	1: 71,640,306	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,908,286	H179R	unknown	Het
Hk2	C	T	6: 82,734,961	D548N	possibly damaging	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Mapk12	A	T	15: 89,135,637	H122Q	possibly damaging	Het
Mdfic	C	T	6: 15,799,711	T279I	probably damaging	Het
Mycbp2	A	G	14: 103,174,797	V2580A	probably damaging	Het
Mylk3	A	G	8: 85,352,047	I476T	probably damaging	Het
Ncapg	G	A	5: 45,674,363	V184I	probably benign	Het
Olfr1243	T	A	2: 89,527,732	H226L	possibly damaging	Het
Pla2g15	A	G	8: 106,161,135	Y185C	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,375,424	S207G	probably benign	Het
Reln	T	C	5: 21,910,849	I3054V	possibly damaging	Het
Rreb1	G	T	13: 37,893,965	R51L	probably damaging	Het
Slc15a2	A	G	16: 36,782,304	F65S	probably damaging	Het
Slc17a8	G	T	10: 89,591,138		probably benign	Het
Snapc4	G	A	2: 26,365,498	Q1005*	probably null	Het
Stag3	A	G	5: 138,298,839	I550M	probably damaging	Het
Steap4	G	T	5: 7,980,494	R450L	probably damaging	Het
Strn4	T	C	7: 16,822,998		probably benign	Het
Stxbp3	C	T	3: 108,805,233		probably null	Het
Syngr1	A	G	15: 80,116,039	D117G	probably damaging	Het
Tbc1d10b	A	T	7: 127,199,795	I513N	possibly damaging	Het

Other mutations in Scube2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Scube2	APN	7	109808454	missense	probably damaging	1.00
IGL01608:Scube2	APN	7	109843254	missense	probably benign
IGL02080:Scube2	APN	7	109852478	missense	probably damaging	1.00
PIT4445001:Scube2	UTSW	7	109809180	missense	probably benign	0.22
R0020:Scube2	UTSW	7	109830888	splice site	probably benign
R0020:Scube2	UTSW	7	109830888	splice site	probably benign
R0106:Scube2	UTSW	7	109846908	splice site	probably benign
R0230:Scube2	UTSW	7	109824764	critical splice donor site	probably null
R0255:Scube2	UTSW	7	109824872	missense	probably damaging	0.98
R0427:Scube2	UTSW	7	109824837	missense	probably benign	0.00
R0612:Scube2	UTSW	7	109804764	splice site	probably benign
R0658:Scube2	UTSW	7	109837120	splice site	probably benign
R0687:Scube2	UTSW	7	109829128	missense	possibly damaging	0.47
R1087:Scube2	UTSW	7	109831675	missense	probably damaging	1.00
R1366:Scube2	UTSW	7	109804614	missense	probably damaging	1.00
R1635:Scube2	UTSW	7	109843214	missense	possibly damaging	0.90
R1797:Scube2	UTSW	7	109831675	missense	probably damaging	1.00
R1972:Scube2	UTSW	7	109809214	missense	probably benign	0.16
R2080:Scube2	UTSW	7	109808505	missense	possibly damaging	0.77
R2254:Scube2	UTSW	7	109825459	missense	possibly damaging	0.47
R2315:Scube2	UTSW	7	109804701	missense	probably damaging	1.00
R2325:Scube2	UTSW	7	109843954	missense	probably damaging	1.00
R3723:Scube2	UTSW	7	109808406	splice site	probably benign
R3946:Scube2	UTSW	7	109857590	missense	possibly damaging	0.81
R4030:Scube2	UTSW	7	109831771	missense	probably benign	0.09
R4621:Scube2	UTSW	7	109800650	missense	possibly damaging	0.63
R4684:Scube2	UTSW	7	109810713	missense	probably damaging	0.96
R4736:Scube2	UTSW	7	109831205	missense	probably benign	0.01
R5096:Scube2	UTSW	7	109799244	utr 3 prime	probably benign
R5266:Scube2	UTSW	7	109809230	missense	probably damaging	1.00
R5579:Scube2	UTSW	7	109810737	missense	probably damaging	1.00
R5669:Scube2	UTSW	7	109825439	missense	probably benign	0.04
R5838:Scube2	UTSW	7	109808444	missense	probably damaging	1.00
R5916:Scube2	UTSW	7	109831724	missense	possibly damaging	0.77
R6056:Scube2	UTSW	7	109833013	nonsense	probably null
R6731:Scube2	UTSW	7	109810737	missense	probably damaging	1.00
R6785:Scube2	UTSW	7	109810617	missense	probably benign
R8197:Scube2	UTSW	7	109808477	missense	possibly damaging	0.53
R8250:Scube2	UTSW	7	109864170	missense	probably benign	0.20
R8273:Scube2	UTSW	7	109809176	missense	probably benign	0.00
R8427:Scube2	UTSW	7	109800590	missense	probably damaging	1.00
R8882:Scube2	UTSW	7	109852473	missense	probably damaging	1.00
R9258:Scube2	UTSW	7	109799308	missense	probably damaging	1.00
R9428:Scube2	UTSW	7	109829138	missense	probably benign	0.32
R9476:Scube2	UTSW	7	109831762	missense	probably damaging	1.00
R9510:Scube2	UTSW	7	109831762	missense	probably damaging	1.00
R9709:Scube2	UTSW	7	109831764	missense	probably damaging	1.00
Z1177:Scube2	UTSW	7	109838127	missense	probably damaging	1.00
Z1177:Scube2	UTSW	7	109843201	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTGGACTGAGACAAAGGGAC -3'
(R):5'- CTTATGGAGCGGACAGTTGC -3'

Sequencing Primer
(F):5'- TGGACTGAGACAAAGGGACAGTTTG -3'
(R):5'- TGGTCACACAGTTCACATCTGAG -3'

Posted On

2015-04-17