Mutagenetix > Incidental Mutation

Incidental Mutation 'R4736:Scube2'

359251

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

041963-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R4736 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109798676-109865679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109831205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 455 (V455A)

Ref Sequence

ENSEMBL: ENSMUSP00000102340 (fasta)

Gene Model

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

AlphaFold

Q9JJS0

Predicted Effect

probably benign
Transcript: ENSMUST00000007423
AA Change: V455A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: V455A

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
AA Change: V455A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: V455A

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,068,485	I1145T	probably damaging	Het
Aadat	T	C	8: 60,540,106	V360A	probably benign	Het
Abhd16a	A	T	17: 35,101,883	T436S	probably benign	Het
Acbd5	G	T	2: 23,099,584	L406F	probably damaging	Het
Agrn	G	A	4: 156,172,401	T1142M	probably benign	Het
Aig1	C	A	10: 13,801,930	W106L	probably damaging	Het
Akr1d1	T	C	6: 37,557,600		probably null	Het
Ap1g1	G	A	8: 109,855,082	D658N	possibly damaging	Het
Arhgap45	A	G	10: 80,026,172	Y520C	probably damaging	Het
Arhgap5	A	T	12: 52,519,077	M944L	probably benign	Het
Asic5	C	T	3: 81,999,809	T47I	possibly damaging	Het
BC052040	A	G	2: 115,581,888	I2V	probably benign	Het
Cabp5	A	G	7: 13,400,739		probably null	Het
Ccr6	A	T	17: 8,256,064	R34*	probably null	Het
Clec4a2	T	C	6: 123,140,663	I180T	probably damaging	Het
Cmtr1	A	G	17: 29,700,242	E704G	possibly damaging	Het
Cyth3	G	A	5: 143,684,479		probably null	Het
Dbt	T	C	3: 116,539,132	I200T	probably damaging	Het
Dennd6b	T	C	15: 89,185,592	H468R	probably benign	Het
Depdc5	A	G	5: 32,975,322	M1237V	probably benign	Het
Dpp6	A	G	5: 27,712,659	Y616C	probably damaging	Het
Dync2h1	A	T	9: 7,006,862	S3710T	probably benign	Het
Eif4g3	T	A	4: 138,198,097	S1584T	probably benign	Het
Emc3	G	A	6: 113,531,349	T45I	possibly damaging	Het
Esf1	T	A	2: 140,124,971	D685V	probably damaging	Het
Ezr	A	G	17: 6,741,576	S366P	probably benign	Het
Gbe1	C	T	16: 70,495,253	A491V	probably damaging	Het
Haus6	A	G	4: 86,600,749		probably null	Het
Heca	G	A	10: 17,915,187	Q12*	probably null	Het
Hpdl	T	C	4: 116,821,024	N80S	probably damaging	Het
Hydin	A	T	8: 110,523,208	Q2261L	probably benign	Het
Itgae	G	T	11: 73,114,880	R290L	possibly damaging	Het
Kcna10	C	A	3: 107,195,492	L480I	probably benign	Het
Kif27	T	C	13: 58,328,971	T622A	probably benign	Het
Lama2	T	C	10: 27,204,929	N966S	probably damaging	Het
Mdfic	A	G	6: 15,741,020	K38E	possibly damaging	Het
Med25	G	A	7: 44,892,288	A26V	probably damaging	Het
Mrpl19	A	T	6: 81,964,348	S77R	probably damaging	Het
Mybpc2	T	C	7: 44,512,547	D493G	probably damaging	Het
Myh4	A	G	11: 67,240,920	T69A	probably benign	Het
Myo16	G	T	8: 10,373,527	G288W	probably damaging	Het
Myo9b	T	C	8: 71,356,592	L1815P	probably damaging	Het
Myom2	T	A	8: 15,081,271	L323Q	probably damaging	Het
Naip1	T	C	13: 100,444,526	D71G	possibly damaging	Het
Nktr	T	A	9: 121,749,739		probably benign	Het
Nol10	A	G	12: 17,355,287	K88E	probably damaging	Het
Nol4	T	C	18: 22,718,993	D505G	probably damaging	Het
Nynrin	T	A	14: 55,863,997	N374K	probably damaging	Het
Obscn	A	T	11: 59,063,536	L3740Q	probably damaging	Het
Olfr1000	T	C	2: 85,607,983	H309R	probably benign	Het
Otub2	T	A	12: 103,392,844	L64Q	probably benign	Het
Pgm5	G	A	19: 24,834,805	A121V	probably damaging	Het
Pi4ka	A	T	16: 17,377,175	Y120N	probably benign	Het
Rpl36al	G	A	12: 69,182,958	A60V	possibly damaging	Het
Rspo4	T	C	2: 151,843,134	Y21H	probably benign	Het
Serpina1f	T	C	12: 103,693,546	D159G	probably damaging	Het
Sf1	A	G	19: 6,365,664	D11G	probably damaging	Het
Siglecg	T	C	7: 43,417,908	F633S	probably benign	Het
Skiv2l	A	G	17: 34,848,197	S89P	possibly damaging	Het
Slc22a13	T	C	9: 119,193,632	E501G	probably damaging	Het
Slc44a3	A	G	3: 121,510,206	S294P	probably damaging	Het
Smad3	T	G	9: 63,757,560	K40Q	probably damaging	Het
Soga1	T	A	2: 157,020,554	D1485V	probably damaging	Het
Stt3a	T	A	9: 36,749,712	M268L	probably benign	Het
Taf4	A	T	2: 179,924,494	V817E	probably damaging	Het
Tgfbr1	A	G	4: 47,383,835	T58A	probably benign	Het
Trpc6	T	C	9: 8,609,870	V113A	probably damaging	Het
Ttll13	T	A	7: 80,248,276		probably null	Het
Uba7	T	C	9: 107,980,165	L742P	probably benign	Het
Ulk2	A	G	11: 61,833,435	L174P	probably damaging	Het
Unc5c	A	T	3: 141,816,931	Y706F	probably benign	Het
Unc80	A	T	1: 66,649,672		probably null	Het
Usp34	T	A	11: 23,393,749		probably null	Het
Vmn1r71	A	T	7: 10,747,864	V233D	possibly damaging	Het
Xpo6	T	C	7: 126,140,583	K439R	probably benign	Het
Xrn1	G	T	9: 96,033,636	G1271C	probably damaging	Het
Yes1	A	T	5: 32,660,777	E386V	probably damaging	Het
Zfp759	C	A	13: 67,139,344	H320N	probably damaging	Het
Zfp990	A	T	4: 145,536,942	H170L	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
R3887:Scube2	UTSW	7	109843176	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
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'- TCTGGTTGTCAAGAAGCATCTGG -3'
(R):5'- ACACAGCAGACTTGTGCCTC -3'

Sequencing Primer
(F):5'- TTGTCAAGAAGCATCTGGTCCAG -3'
(R):5'- TCTCTAACCTTCATAGGAGGCAAGG -3'

Posted On

2015-11-11