Mutagenetix > Incidental Mutation

Incidental Mutation 'R9510:Scube2'

718096

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R9510 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109397897-109464886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109430969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 410 (G410E)

Ref Sequence

ENSEMBL: ENSMUSP00000102340 (fasta)

Gene Model

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

AlphaFold

Q9JJS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000007423
AA Change: G410E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: G410E

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: G410E

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

SMART Domains

Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: G410E

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: G410E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: G410E

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	G	4: 42,760,998 (GRCm39)	W6G	unknown	Het
Aatk	A	T	11: 119,901,094 (GRCm39)	C1101S	probably benign	Het
Ankrd61	T	C	5: 143,828,322 (GRCm39)	T218A	possibly damaging	Het
Cacna1b	T	C	2: 24,540,058 (GRCm39)	E1467G	probably damaging	Het
Ccdc186	T	C	19: 56,802,016 (GRCm39)	T34A	probably benign	Het
Cdc42bpb	G	A	12: 111,261,372 (GRCm39)	P1656S	probably benign	Het
Cdk13	A	C	13: 17,902,747 (GRCm39)	C934W	probably damaging	Het
Cebpg	T	C	7: 34,750,080 (GRCm39)	N61S	probably benign	Het
Cldn13	T	A	5: 134,943,843 (GRCm39)	E114V	probably benign	Het
Clec9a	T	A	6: 129,398,023 (GRCm39)	I187K	possibly damaging	Het
Cr2	G	T	1: 194,840,416 (GRCm39)	L509M	probably damaging	Het
Creb3l2	C	A	6: 37,311,446 (GRCm39)	G448W	probably damaging	Het
Csf2rb	T	A	15: 78,229,760 (GRCm39)		probably null	Het
Cyth1	C	T	11: 118,076,206 (GRCm39)		probably null	Het
Dapk1	A	T	13: 60,910,203 (GRCm39)	D1441V	unknown	Het
Dnhd1	A	T	7: 105,352,889 (GRCm39)	N2681Y	possibly damaging	Het
Dnm1	T	C	2: 32,213,739 (GRCm39)	M476V	probably benign	Het
Dock1	T	G	7: 134,592,279 (GRCm39)	I938S	probably benign	Het
Duox1	G	A	2: 122,160,023 (GRCm39)	V713I	possibly damaging	Het
Dusp16	T	C	6: 134,695,226 (GRCm39)	H535R	probably benign	Het
Eif3j2	TGCCGCCGCCGCCGCCGCCGCCGCCGCC	TGCCGCCGCCGCCGCCGCCGCCGCC	18: 43,610,782 (GRCm39)		probably benign	Het
Fancd2os	T	A	6: 113,574,994 (GRCm39)	Y4F	probably damaging	Het
Fat4	A	T	3: 39,037,886 (GRCm39)	Q3846L	probably benign	Het
Fbxw10	A	C	11: 62,743,814 (GRCm39)	H240P	probably benign	Het
Fer1l5	T	C	1: 36,442,662 (GRCm39)	L727P	probably damaging	Het
Fezf1	A	C	6: 23,247,845 (GRCm39)	F77V	probably benign	Het
Fli1	T	C	9: 32,335,493 (GRCm39)	D313G	probably damaging	Het
Frmd4a	A	G	2: 4,608,324 (GRCm39)	T731A	probably benign	Het
Gfy	T	C	7: 44,828,090 (GRCm39)	Q2R	possibly damaging	Het
Ggt5	T	C	10: 75,445,139 (GRCm39)	V382A	probably benign	Het
Hira	A	G	16: 18,772,789 (GRCm39)	D867G	probably damaging	Het
Hmcn1	A	G	1: 150,462,127 (GRCm39)	S5184P	probably benign	Het
Ighv1-26	A	C	12: 114,752,407 (GRCm39)	F7V	probably benign	Het
Igkv4-81	C	T	6: 68,967,796 (GRCm39)	E102K	possibly damaging	Het
Inmt	G	T	6: 55,147,990 (GRCm39)	S213Y	possibly damaging	Het
Ints2	T	A	11: 86,135,335 (GRCm39)	M360L	probably benign	Het
Itih3	A	G	14: 30,631,416 (GRCm39)	S827P	probably benign	Het
Kcnk12	C	A	17: 88,054,122 (GRCm39)	R180L	probably benign	Het
Klhl2	T	C	8: 65,202,113 (GRCm39)	N521S	probably benign	Het
Kmt2a	A	T	9: 44,734,531 (GRCm39)	F2104I	unknown	Het
Kndc1	G	A	7: 139,510,031 (GRCm39)	S1291N	probably benign	Het
Mettl21a	T	C	1: 64,647,285 (GRCm39)	T91A	probably damaging	Het
Mmrn2	A	G	14: 34,120,407 (GRCm39)	I426V	possibly damaging	Het
Mrpl2	T	C	17: 46,958,440 (GRCm39)	V74A	probably benign	Het
Msantd4	A	G	9: 4,385,007 (GRCm39)	D244G	probably benign	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Ncam2	A	G	16: 81,420,341 (GRCm39)	*838W	probably null	Het
Ncor1	CTG	CTGATG	11: 62,324,442 (GRCm39)		probably benign	Het
Nsf	T	C	11: 103,763,988 (GRCm39)	N365S	probably damaging	Het
Osbpl3	C	T	6: 50,313,194 (GRCm39)		probably null	Het
Pam	C	T	1: 97,826,065 (GRCm39)		probably null	Het
Parn	A	T	16: 13,358,942 (GRCm39)	M600K	probably benign	Het
Pcdha11	C	A	18: 37,139,532 (GRCm39)	T387N	probably benign	Het
Ptprt	A	C	2: 161,397,381 (GRCm39)	C1129G	probably damaging	Het
Ralgapb	T	A	2: 158,285,856 (GRCm39)	S645T	probably damaging	Het
Rara	C	T	11: 98,860,983 (GRCm39)	S157L	probably benign	Het
Rnf40	T	A	7: 127,201,808 (GRCm39)	I1000N	probably damaging	Het
Sap25	C	T	5: 137,640,494 (GRCm39)	T141I	probably null	Het
Sh3gl2	A	G	4: 85,304,089 (GRCm39)	E264G	probably benign	Het
Smc4	T	G	3: 68,914,662 (GRCm39)	S92A	probably damaging	Het
Sorcs1	C	T	19: 50,666,521 (GRCm39)	R129Q	probably benign	Het
Spata31e4	A	G	13: 50,856,149 (GRCm39)	T596A	possibly damaging	Het
Spef2	T	C	15: 9,713,203 (GRCm39)	R390G	probably damaging	Het
Speg	T	C	1: 75,377,768 (GRCm39)	F842S	probably damaging	Het
Stk17b	G	T	1: 53,796,898 (GRCm39)	H290N	probably damaging	Het
Stpg3	A	T	2: 25,103,516 (GRCm39)	V191D	probably benign	Het
Supt6	C	T	11: 78,120,290 (GRCm39)	R350H	probably damaging	Het
Taf1b	G	A	12: 24,566,947 (GRCm39)	A214T	possibly damaging	Het
Tet3	T	C	6: 83,380,935 (GRCm39)	E411G	possibly damaging	Het
Tet3	T	A	6: 83,381,808 (GRCm39)		probably null	Het
Tg	T	C	15: 66,545,913 (GRCm39)	Y212H	probably damaging	Het
Tns3	A	G	11: 8,395,702 (GRCm39)	I1234T	probably damaging	Het
Traf6	C	T	2: 101,521,825 (GRCm39)	T220I	possibly damaging	Het
Tram2	C	G	1: 21,074,150 (GRCm39)	A263P	possibly damaging	Het
Treml1	T	G	17: 48,673,771 (GRCm39)	S261A	probably damaging	Het
Trim34b	A	G	7: 103,980,503 (GRCm39)	E197G	probably damaging	Het
Tspan18	C	T	2: 93,050,462 (GRCm39)	G54S	probably damaging	Het
Wdtc1	A	G	4: 133,049,529 (GRCm39)	V29A	probably damaging	Het
Zdhhc16	T	C	19: 41,929,155 (GRCm39)	Y253H	probably damaging	Het
Zfp366	A	G	13: 99,365,874 (GRCm39)	Y345C	probably damaging	Het
Zfp423	T	A	8: 88,510,041 (GRCm39)	D101V	possibly damaging	Het
Zfp462	G	A	4: 55,080,735 (GRCm39)	M2450I	probably benign	Het
Zfp52	C	T	17: 21,782,218 (GRCm39)	L689F	possibly damaging	Het
Zim1	G	A	7: 6,690,739 (GRCm39)	Q29*	probably null	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
R4736:Scube2	UTSW	7	109,430,412 (GRCm39)	missense	probably benign	0.01
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
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'- CAGTGGAGTATGCAAGCACAC -3'
(R):5'- TGGTTAAAACTCTCAACCAAGGC -3'

Sequencing Primer
(F):5'- CAGTCTCAAACCTCCAGATTTGGG -3'
(R):5'- GTTAAAACTCTCAACCAAGGCACATG -3'

Posted On

2022-07-18