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

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

MMRRC Submission

041963-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R4736 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109397897-109464886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109430412 bp (GRCm39)

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: 137,774,246 (GRCm39)	I1145T	probably damaging	Het
Aadat	T	C	8: 60,993,140 (GRCm39)	V360A	probably benign	Het
Abhd16a	A	T	17: 35,320,859 (GRCm39)	T436S	probably benign	Het
Acbd5	G	T	2: 22,989,596 (GRCm39)	L406F	probably damaging	Het
Agrn	G	A	4: 156,256,858 (GRCm39)	T1142M	probably benign	Het
Aig1	C	A	10: 13,677,674 (GRCm39)	W106L	probably damaging	Het
Akr1d1	T	C	6: 37,534,535 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,581,714 (GRCm39)	D658N	possibly damaging	Het
Arhgap45	A	G	10: 79,862,006 (GRCm39)	Y520C	probably damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Asic5	C	T	3: 81,907,116 (GRCm39)	T47I	possibly damaging	Het
Cabp5	A	G	7: 13,134,664 (GRCm39)		probably null	Het
Ccr6	A	T	17: 8,474,896 (GRCm39)	R34*	probably null	Het
Cdin1	A	G	2: 115,412,369 (GRCm39)	I2V	probably benign	Het
Clec4a2	T	C	6: 123,117,622 (GRCm39)	I180T	probably damaging	Het
Cmtr1	A	G	17: 29,919,216 (GRCm39)	E704G	possibly damaging	Het
Cyth3	G	A	5: 143,670,234 (GRCm39)		probably null	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dennd6b	T	C	15: 89,069,795 (GRCm39)	H468R	probably benign	Het
Depdc5	A	G	5: 33,132,666 (GRCm39)	M1237V	probably benign	Het
Dpp6	A	G	5: 27,917,657 (GRCm39)	Y616C	probably damaging	Het
Dync2h1	A	T	9: 7,006,862 (GRCm39)	S3710T	probably benign	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Emc3	G	A	6: 113,508,310 (GRCm39)	T45I	possibly damaging	Het
Esf1	T	A	2: 139,966,891 (GRCm39)	D685V	probably damaging	Het
Ezr	A	G	17: 7,008,975 (GRCm39)	S366P	probably benign	Het
Gbe1	C	T	16: 70,292,141 (GRCm39)	A491V	probably damaging	Het
Haus6	A	G	4: 86,518,986 (GRCm39)		probably null	Het
Heca	G	A	10: 17,790,935 (GRCm39)	Q12*	probably null	Het
Hpdl	T	C	4: 116,678,221 (GRCm39)	N80S	probably damaging	Het
Hydin	A	T	8: 111,249,840 (GRCm39)	Q2261L	probably benign	Het
Itgae	G	T	11: 73,005,706 (GRCm39)	R290L	possibly damaging	Het
Kcna10	C	A	3: 107,102,808 (GRCm39)	L480I	probably benign	Het
Kif27	T	C	13: 58,476,785 (GRCm39)	T622A	probably benign	Het
Lama2	T	C	10: 27,080,925 (GRCm39)	N966S	probably damaging	Het
Mdfic	A	G	6: 15,741,019 (GRCm39)	K38E	possibly damaging	Het
Med25	G	A	7: 44,541,712 (GRCm39)	A26V	probably damaging	Het
Mrpl19	A	T	6: 81,941,329 (GRCm39)	S77R	probably damaging	Het
Mtcl2	T	A	2: 156,862,474 (GRCm39)	D1485V	probably damaging	Het
Mybpc2	T	C	7: 44,161,971 (GRCm39)	D493G	probably damaging	Het
Myh4	A	G	11: 67,131,746 (GRCm39)	T69A	probably benign	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Myo9b	T	C	8: 71,809,236 (GRCm39)	L1815P	probably damaging	Het
Myom2	T	A	8: 15,131,271 (GRCm39)	L323Q	probably damaging	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nktr	T	A	9: 121,578,805 (GRCm39)		probably benign	Het
Nol10	A	G	12: 17,405,288 (GRCm39)	K88E	probably damaging	Het
Nol4	T	C	18: 22,852,050 (GRCm39)	D505G	probably damaging	Het
Nynrin	T	A	14: 56,101,454 (GRCm39)	N374K	probably damaging	Het
Obscn	A	T	11: 58,954,362 (GRCm39)	L3740Q	probably damaging	Het
Or5g23	T	C	2: 85,438,327 (GRCm39)	H309R	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pgm5	G	A	19: 24,812,169 (GRCm39)	A121V	probably damaging	Het
Pi4ka	A	T	16: 17,195,039 (GRCm39)	Y120N	probably benign	Het
Rpl36al	G	A	12: 69,229,732 (GRCm39)	A60V	possibly damaging	Het
Rspo4	T	C	2: 151,685,054 (GRCm39)	Y21H	probably benign	Het
Serpina1f	T	C	12: 103,659,805 (GRCm39)	D159G	probably damaging	Het
Sf1	A	G	19: 6,415,694 (GRCm39)	D11G	probably damaging	Het
Siglecg	T	C	7: 43,067,332 (GRCm39)	F633S	probably benign	Het
Skic2	A	G	17: 35,067,173 (GRCm39)	S89P	possibly damaging	Het
Slc22a13	T	C	9: 119,022,698 (GRCm39)	E501G	probably damaging	Het
Slc44a3	A	G	3: 121,303,855 (GRCm39)	S294P	probably damaging	Het
Smad3	T	G	9: 63,664,842 (GRCm39)	K40Q	probably damaging	Het
Stt3a	T	A	9: 36,661,008 (GRCm39)	M268L	probably benign	Het
Taf4	A	T	2: 179,566,287 (GRCm39)	V817E	probably damaging	Het
Tgfbr1	A	G	4: 47,383,835 (GRCm39)	T58A	probably benign	Het
Trpc6	T	C	9: 8,609,871 (GRCm39)	V113A	probably damaging	Het
Ttll13	T	A	7: 79,898,024 (GRCm39)		probably null	Het
Uba7	T	C	9: 107,857,364 (GRCm39)	L742P	probably benign	Het
Ulk2	A	G	11: 61,724,261 (GRCm39)	L174P	probably damaging	Het
Unc5c	A	T	3: 141,522,692 (GRCm39)	Y706F	probably benign	Het
Unc80	A	T	1: 66,688,831 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,343,749 (GRCm39)		probably null	Het
Vmn1r71	A	T	7: 10,481,791 (GRCm39)	V233D	possibly damaging	Het
Xpo6	T	C	7: 125,739,755 (GRCm39)	K439R	probably benign	Het
Xrn1	G	T	9: 95,915,689 (GRCm39)	G1271C	probably damaging	Het
Yes1	A	T	5: 32,818,121 (GRCm39)	E386V	probably damaging	Het
Zfp759	C	A	13: 67,287,408 (GRCm39)	H320N	probably damaging	Het
Zfp990	A	T	4: 145,263,512 (GRCm39)	H170L	possibly damaging	Het

Other mutations in Scube2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Scube2	APN	7	109,407,661 (GRCm39)	missense	probably damaging	1.00
IGL01608:Scube2	APN	7	109,442,461 (GRCm39)	missense	probably benign
IGL02080:Scube2	APN	7	109,451,685 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Scube2	UTSW	7	109,408,387 (GRCm39)	missense	probably benign	0.22
R0020:Scube2	UTSW	7	109,430,095 (GRCm39)	splice site	probably benign
R0020:Scube2	UTSW	7	109,430,095 (GRCm39)	splice site	probably benign
R0106:Scube2	UTSW	7	109,446,115 (GRCm39)	splice site	probably benign
R0230:Scube2	UTSW	7	109,423,971 (GRCm39)	critical splice donor site	probably null
R0255:Scube2	UTSW	7	109,424,079 (GRCm39)	missense	probably damaging	0.98
R0427:Scube2	UTSW	7	109,424,044 (GRCm39)	missense	probably benign	0.00
R0612:Scube2	UTSW	7	109,403,971 (GRCm39)	splice site	probably benign
R0658:Scube2	UTSW	7	109,436,327 (GRCm39)	splice site	probably benign
R0687:Scube2	UTSW	7	109,428,335 (GRCm39)	missense	possibly damaging	0.47
R1087:Scube2	UTSW	7	109,430,882 (GRCm39)	missense	probably damaging	1.00
R1366:Scube2	UTSW	7	109,403,821 (GRCm39)	missense	probably damaging	1.00
R1635:Scube2	UTSW	7	109,442,421 (GRCm39)	missense	possibly damaging	0.90
R1797:Scube2	UTSW	7	109,430,882 (GRCm39)	missense	probably damaging	1.00
R1972:Scube2	UTSW	7	109,408,421 (GRCm39)	missense	probably benign	0.16
R2080:Scube2	UTSW	7	109,407,712 (GRCm39)	missense	possibly damaging	0.77
R2254:Scube2	UTSW	7	109,424,666 (GRCm39)	missense	possibly damaging	0.47
R2315:Scube2	UTSW	7	109,403,908 (GRCm39)	missense	probably damaging	1.00
R2325:Scube2	UTSW	7	109,443,161 (GRCm39)	missense	probably damaging	1.00
R3723:Scube2	UTSW	7	109,407,613 (GRCm39)	splice site	probably benign
R3887:Scube2	UTSW	7	109,442,383 (GRCm39)	splice site	probably benign
R3946:Scube2	UTSW	7	109,456,797 (GRCm39)	missense	possibly damaging	0.81
R4030:Scube2	UTSW	7	109,430,978 (GRCm39)	missense	probably benign	0.09
R4621:Scube2	UTSW	7	109,399,857 (GRCm39)	missense	possibly damaging	0.63
R4684:Scube2	UTSW	7	109,409,920 (GRCm39)	missense	probably damaging	0.96
R5096:Scube2	UTSW	7	109,398,451 (GRCm39)	utr 3 prime	probably benign
R5266:Scube2	UTSW	7	109,408,437 (GRCm39)	missense	probably damaging	1.00
R5579:Scube2	UTSW	7	109,409,944 (GRCm39)	missense	probably damaging	1.00
R5669:Scube2	UTSW	7	109,424,646 (GRCm39)	missense	probably benign	0.04
R5838:Scube2	UTSW	7	109,407,651 (GRCm39)	missense	probably damaging	1.00
R5916:Scube2	UTSW	7	109,430,931 (GRCm39)	missense	possibly damaging	0.77
R6056:Scube2	UTSW	7	109,432,220 (GRCm39)	nonsense	probably null
R6731:Scube2	UTSW	7	109,409,944 (GRCm39)	missense	probably damaging	1.00
R6785:Scube2	UTSW	7	109,409,824 (GRCm39)	missense	probably benign
R8197:Scube2	UTSW	7	109,407,684 (GRCm39)	missense	possibly damaging	0.53
R8250:Scube2	UTSW	7	109,463,377 (GRCm39)	missense	probably benign	0.20
R8273:Scube2	UTSW	7	109,408,383 (GRCm39)	missense	probably benign	0.00
R8427:Scube2	UTSW	7	109,399,797 (GRCm39)	missense	probably damaging	1.00
R8882:Scube2	UTSW	7	109,451,680 (GRCm39)	missense	probably damaging	1.00
R9258:Scube2	UTSW	7	109,398,515 (GRCm39)	missense	probably damaging	1.00
R9428:Scube2	UTSW	7	109,428,345 (GRCm39)	missense	probably benign	0.32
R9476:Scube2	UTSW	7	109,430,969 (GRCm39)	missense	probably damaging	1.00
R9510:Scube2	UTSW	7	109,430,969 (GRCm39)	missense	probably damaging	1.00
R9709:Scube2	UTSW	7	109,430,971 (GRCm39)	missense	probably damaging	1.00
Z1177:Scube2	UTSW	7	109,442,408 (GRCm39)	missense	probably damaging	1.00
Z1177:Scube2	UTSW	7	109,437,334 (GRCm39)	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