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

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.456) question?

Stock #

R9510 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109798676-109865679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109831762 bp (GRCm38)

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	W6G	unknown	Het
Aatk	A	T	11: 120,010,268	C1101S	probably benign	Het
Ankrd61	T	C	5: 143,891,504	T218A	possibly damaging	Het
Cacna1b	T	C	2: 24,650,046	E1467G	probably damaging	Het
Ccdc186	T	C	19: 56,813,584	T34A	probably benign	Het
Cdc42bpb	G	A	12: 111,294,938	P1656S	probably benign	Het
Cdk13	A	C	13: 17,728,162	C934W	probably damaging	Het
Cebpg	T	C	7: 35,050,655	N61S	probably benign	Het
Cldn13	T	A	5: 134,914,989	E114V	probably benign	Het
Clec9a	T	A	6: 129,421,060	I187K	possibly damaging	Het
Cr2	G	T	1: 195,158,108	L509M	probably damaging	Het
Creb3l2	C	A	6: 37,334,511	G448W	probably damaging	Het
Csf2rb	T	A	15: 78,345,560		probably null	Het
Cyth1	C	T	11: 118,185,380		probably null	Het
Dapk1	A	T	13: 60,762,389	D1441V	unknown	Het
Dnhd1	A	T	7: 105,703,682	N2681Y	possibly damaging	Het
Dnm1	T	C	2: 32,323,727	M476V	probably benign	Het
Dock1	T	G	7: 134,990,550	I938S	probably benign	Het
Duox1	G	A	2: 122,329,542	V713I	possibly damaging	Het
Dusp16	T	C	6: 134,718,263	H535R	probably benign	Het
Eif3j2	TGCCGCCGCCGCCGCCGCCGCCGCCGCC	TGCCGCCGCCGCCGCCGCCGCCGCC	18: 43,477,717		probably benign	Het
Fancd2os	T	A	6: 113,598,033	Y4F	probably damaging	Het
Fat4	A	T	3: 38,983,737	Q3846L	probably benign	Het
Fbxw10	A	C	11: 62,852,988	H240P	probably benign	Het
Fer1l5	T	C	1: 36,403,581	L727P	probably damaging	Het
Fezf1	A	C	6: 23,247,846	F77V	probably benign	Het
Fli1	T	C	9: 32,424,197	D313G	probably damaging	Het
Frmd4a	A	G	2: 4,603,513	T731A	probably benign	Het
Gfy	T	C	7: 45,178,666	Q2R	possibly damaging	Het
Ggt5	T	C	10: 75,609,305	V382A	probably benign	Het
Gm8765	A	G	13: 50,702,113	T596A	possibly damaging	Het
Hira	A	G	16: 18,954,039	D867G	probably damaging	Het
Hmcn1	A	G	1: 150,586,376	S5184P	probably benign	Het
Ighv1-26	A	C	12: 114,788,787	F7V	probably benign	Het
Igkv4-81	C	T	6: 68,990,812	E102K	possibly damaging	Het
Inmt	G	T	6: 55,171,005	S213Y	possibly damaging	Het
Ints2	T	A	11: 86,244,509	M360L	probably benign	Het
Itih3	A	G	14: 30,909,459	S827P	probably benign	Het
Kcnk12	C	A	17: 87,746,694	R180L	probably benign	Het
Klhl2	T	C	8: 64,749,079	N521S	probably benign	Het
Kmt2a	A	T	9: 44,823,234	F2104I	unknown	Het
Kndc1	G	A	7: 139,930,118	S1291N	probably benign	Het
Mettl21a	T	C	1: 64,608,126	T91A	probably damaging	Het
Mmrn2	A	G	14: 34,398,450	I426V	possibly damaging	Het
Mrpl2	T	C	17: 46,647,514	V74A	probably benign	Het
Msantd4	A	G	9: 4,385,007	D244G	probably benign	Het
Mtfmt	C	T	9: 65,435,865	R18C	probably benign	Het
Ncam2	A	G	16: 81,623,453	*838W	probably null	Het
Ncor1	CTG	CTGATG	11: 62,433,616		probably benign	Het
Nsf	T	C	11: 103,873,162	N365S	probably damaging	Het
Osbpl3	C	T	6: 50,336,214		probably null	Het
Pam	C	T	1: 97,898,340		probably null	Het
Parn	A	T	16: 13,541,078	M600K	probably benign	Het
Pcdha11	C	A	18: 37,006,479	T387N	probably benign	Het
Ptprt	A	C	2: 161,555,461	C1129G	probably damaging	Het
Ralgapb	T	A	2: 158,443,936	S645T	probably damaging	Het
Rara	C	T	11: 98,970,157	S157L	probably benign	Het
Rnf40	T	A	7: 127,602,636	I1000N	probably damaging	Het
Sap25	C	T	5: 137,642,232	T141I	probably null	Het
Sh3gl2	A	G	4: 85,385,852	E264G	probably benign	Het
Smc4	T	G	3: 69,007,329	S92A	probably damaging	Het
Sorcs1	C	T	19: 50,678,083	R129Q	probably benign	Het
Spef2	T	C	15: 9,713,117	R390G	probably damaging	Het
Speg	T	C	1: 75,401,124	F842S	probably damaging	Het
Stk17b	G	T	1: 53,757,739	H290N	probably damaging	Het
Stpg3	A	T	2: 25,213,504	V191D	probably benign	Het
Supt6	C	T	11: 78,229,464	R350H	probably damaging	Het
Taf1b	G	A	12: 24,516,948	A214T	possibly damaging	Het
Tet3	T	C	6: 83,403,953	E411G	possibly damaging	Het
Tet3	T	A	6: 83,404,826		probably null	Het
Tg	T	C	15: 66,674,064	Y212H	probably damaging	Het
Tns3	A	G	11: 8,445,702	I1234T	probably damaging	Het
Traf6	C	T	2: 101,691,480	T220I	possibly damaging	Het
Tram2	C	G	1: 21,003,926	A263P	possibly damaging	Het
Treml1	T	G	17: 48,366,743	S261A	probably damaging	Het
Trim34b	A	G	7: 104,331,296	E197G	probably damaging	Het
Tspan18	C	T	2: 93,220,117	G54S	probably damaging	Het
Wdtc1	A	G	4: 133,322,218	V29A	probably damaging	Het
Zdhhc16	T	C	19: 41,940,716	Y253H	probably damaging	Het
Zfp366	A	G	13: 99,229,366	Y345C	probably damaging	Het
Zfp423	T	A	8: 87,783,413	D101V	possibly damaging	Het
Zfp462	G	A	4: 55,080,735	M2450I	probably benign	Het
Zfp52	C	T	17: 21,561,956	L689F	possibly damaging	Het
Zim1	G	A	7: 6,687,740	Q29*	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
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
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
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'- CAGTGGAGTATGCAAGCACAC -3'
(R):5'- TGGTTAAAACTCTCAACCAAGGC -3'

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

Posted On

2022-07-18