Mutagenetix > Incidental Mutation

Incidental Mutation 'R6785:Scube2'

531625

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R6785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109798676-109865679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109810617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 557 (I557T)

Ref Sequence

ENSEMBL: ENSMUSP00000102339 (fasta)

Gene Model

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

AlphaFold

Q9JJS0

Predicted Effect

probably benign
Transcript: ENSMUST00000007423
AA Change: I683T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: I683T

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
AA Change: I557T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: I557T

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	G	2: 22,953,467	V316A	probably benign	Het
Acad12	T	C	5: 121,609,845	Y170C	probably damaging	Het
Acss2	T	C	2: 155,560,685	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,522,004	I422V	probably damaging	Het
AI481877	T	C	4: 59,049,066	M1100V	probably benign	Het
Aldh18a1	A	G	19: 40,568,344	L375P	probably damaging	Het
B020011L13Rik	A	G	1: 117,801,069	D102G	possibly damaging	Het
Cfap74	T	A	4: 155,454,024		probably benign	Het
Coa4	G	A	7: 100,539,253	V58M	probably damaging	Het
Crybg1	T	C	10: 43,999,171	N647S	probably benign	Het
D3Ertd254e	T	A	3: 36,165,452	C541*	probably null	Het
Dync1h1	G	A	12: 110,629,679	G1547S	probably damaging	Het
Espnl	A	G	1: 91,322,221	D30G	probably benign	Het
Fasl	T	A	1: 161,781,835	Y194F	probably benign	Het
Fbxw8	T	C	5: 118,092,689	E349G	probably damaging	Het
Gen1	A	G	12: 11,262,530	V13A	possibly damaging	Het
Gm4559	A	G	7: 142,274,108	C86R	unknown	Het
H2-M9	T	C	17: 36,642,233	N61D	probably damaging	Het
H6pd	C	T	4: 149,982,790	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,501,188		probably null	Het
Hnrnpd	C	A	5: 99,978,424	K67N	probably benign	Het
Hspg2	T	C	4: 137,508,398	S170P	probably damaging	Het
Igsf10	G	T	3: 59,319,244	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,912,615		probably null	Het
Katnb1	T	C	8: 95,095,642	Y298H	probably benign	Het
Kif21a	A	T	15: 90,935,730	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,850,193	C119*	probably null	Het
Lcn2	C	T	2: 32,387,027		probably null	Het
Lmf2	A	T	15: 89,352,033	S588T	probably benign	Het
Mboat7	A	G	7: 3,685,836	L231P	probably benign	Het
Mier2	T	C	10: 79,544,713	R288G	probably damaging	Het
Mybbp1a	T	C	11: 72,447,566	V694A	probably benign	Het
Ndnf	C	A	6: 65,703,063	L109I	probably benign	Het
Nfkb1	C	A	3: 135,615,303	E230D	probably benign	Het
Nostrin	A	G	2: 69,183,927	K409R	probably benign	Het
Olfr1082	T	A	2: 86,594,421	M136L	probably damaging	Het
Olfr338	A	G	2: 36,376,842	Q22R	probably benign	Het
Olfr338	C	A	2: 36,376,951	Y58*	probably null	Het
Pdpr	C	A	8: 111,124,611	T534N	probably benign	Het
Plekhf1	G	A	7: 38,222,064	Q27*	probably null	Het
Ppp6c	A	T	2: 39,197,581	H204Q	probably benign	Het
Prrc2c	T	C	1: 162,709,101		probably benign	Het
Prrg2	A	G	7: 45,060,225	F83L	probably damaging	Het
Rab11fip3	T	G	17: 25,991,718	D938A	probably damaging	Het
Rai1	A	G	11: 60,188,794	N1228S	probably benign	Het
Ryr1	G	T	7: 29,064,874	T3060K	probably benign	Het
Setdb1	C	A	3: 95,326,401	R1066L	probably benign	Het
Slc35f3	T	C	8: 126,394,459	V353A	probably benign	Het
Slfn3	A	T	11: 83,214,601	T475S	possibly damaging	Het
Snrnp200	T	A	2: 127,229,165	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,242,481	K223*	probably null	Het
Tex2	A	C	11: 106,533,950	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,370,485	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,377,233	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,430,907	L26P	probably damaging	Het
Trim80	T	C	11: 115,441,201	I73T	probably damaging	Het
Tssk4	T	A	14: 55,650,475	Y43N	probably damaging	Het
Ttn	T	C	2: 76,711,495	T25389A	probably damaging	Het
Ttn	A	T	2: 76,747,944	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,866,137	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,908,204	T697S	probably benign	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
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
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'- ATTTGTTCATGTAGGCATCAGC -3'
(R):5'- ACACTGACCAGATTGTCCCC -3'

Sequencing Primer
(F):5'- AGTGTGTCCGGTGCCAAC -3'
(R):5'- CCCTTTGGCTAGTCAGTTGCAG -3'

Posted On

2018-08-29