Mutagenetix > Incidental Mutation

Incidental Mutation 'R1087:Scube2'

85071

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.554) question?

Stock #

R1087 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109798676-109865679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109831675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 439 (D439G)

Ref Sequence

ENSEMBL: ENSMUSP00000102339 (fasta)

Gene Model

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

AlphaFold

Q9JJS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000007423
AA Change: D439G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: D439G

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 damaging
Transcript: ENSMUST00000106728
AA Change: D439G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: D439G

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 damaging
Transcript: ENSMUST00000106729
AA Change: D439G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: D439G

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.3%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	T	C	18: 57,730,798	S225P	probably damaging	Het
Anxa11	A	G	14: 25,870,179	M56V	unknown	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atp8b3	T	C	10: 80,520,183	R1232G	probably benign	Het
Axdnd1	T	A	1: 156,365,689	M643L	probably benign	Het
Bsph1	A	G	7: 13,472,181	Y57C	probably damaging	Het
Car13	G	A	3: 14,641,825	W6*	probably null	Het
Ccng2	T	C	5: 93,273,444	I271T	probably benign	Het
Ces1f	T	A	8: 93,258,295	D468V	probably damaging	Het
Chil4	A	G	3: 106,210,565	Y130H	probably benign	Het
Clns1a	T	A	7: 97,705,655	H69Q	possibly damaging	Het
Cnot11	T	A	1: 39,540,058	S335T	probably benign	Het
Dcaf11	A	G	14: 55,569,124	S461G	probably damaging	Het
Dlst	G	A	12: 85,132,639	M417I	probably damaging	Het
Dock4	A	C	12: 40,729,938	I612L	probably benign	Het
Endod1	A	G	9: 14,357,193	V332A	possibly damaging	Het
F830045P16Rik	T	C	2: 129,472,719	T213A	possibly damaging	Het
Gm5773	A	T	3: 93,773,758	I246F	probably damaging	Het
Gml2	T	A	15: 74,824,097	D113E	possibly damaging	Het
Grik1	T	C	16: 88,006,377	E309G	probably benign	Het
Hectd1	A	T	12: 51,776,572	I1013K	probably damaging	Het
Kcmf1	T	C	6: 72,858,880	E22G	probably damaging	Het
Kdm5b	T	A	1: 134,600,637	C361S	probably damaging	Het
Kif21b	T	C	1: 136,162,823	S1150P	probably damaging	Het
Man2b1	G	A	8: 85,095,171	V701M	probably damaging	Het
March10	T	C	11: 105,390,662	R266G	probably damaging	Het
Milr1	A	G	11: 106,755,022	Y130C	probably damaging	Het
Nampt	A	G	12: 32,833,043	T76A	possibly damaging	Het
Nek10	A	G	14: 14,827,059	N86D	possibly damaging	Het
Nms	T	G	1: 38,944,111		probably null	Het
Olfr1490	T	A	19: 13,655,012	C194*	probably null	Het
Parp14	A	G	16: 35,858,288	S437P	probably damaging	Het
Pif1	A	G	9: 65,589,095	M226V	probably benign	Het
Rnf169	T	C	7: 99,942,997	R216G	probably benign	Het
Rorb	T	C	19: 18,960,414	K307R	probably damaging	Het
Serpinb8	T	C	1: 107,606,997	V266A	probably damaging	Het
Strip2	A	G	6: 29,927,634	E226G	probably damaging	Het
Trim23	A	G	13: 104,188,110	D212G	possibly damaging	Het
Vmn1r172	T	A	7: 23,660,248	V186D	possibly damaging	Het
Vwde	A	T	6: 13,186,804	C895S	probably damaging	Het
Zswim8	C	A	14: 20,717,865		probably null	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
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
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'- TGTGTGCTCATGCAGAGAACAACC -3'
(R):5'- GGGAGAGACAGTCAGCCTTTGATG -3'

Sequencing Primer
(F):5'- CAAGGAGCCTGAGAAGTACCTC -3'
(R):5'- CAGCCTTTGATGTACTGTTGC -3'

Posted On

2013-11-18