Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:Scube2'

93733

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

038392-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

109397897-109464886 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 109446115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102340 (fasta)

Gene Model

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

AlphaFold

Q9JJS0

Predicted Effect

probably benign
Transcript: ENSMUST00000007423

SMART Domains

Protein: ENSMUSP00000007423
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	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

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: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (84/84)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	A	T	12: 112,381,628 (GRCm39)		noncoding transcript	Het
Abcb9	T	C	5: 124,221,123 (GRCm39)	N276S	possibly damaging	Het
Arhgef25	A	G	10: 127,019,879 (GRCm39)		probably null	Het
Asic4	T	C	1: 75,427,771 (GRCm39)	V99A	probably benign	Het
Aspm	C	A	1: 139,404,614 (GRCm39)	Q1315K	probably benign	Het
B3galnt2	T	C	13: 14,170,378 (GRCm39)	S243P	probably benign	Het
Brf1	A	G	12: 112,937,083 (GRCm39)		probably benign	Het
Card19	A	C	13: 49,361,621 (GRCm39)	D3E	probably benign	Het
Chd6	A	G	2: 160,809,822 (GRCm39)	F1480L	probably damaging	Het
Ckap5	T	C	2: 91,408,550 (GRCm39)	I915T	possibly damaging	Het
Ckap5	T	A	2: 91,446,185 (GRCm39)	I1836N	probably damaging	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Cramp1	A	G	17: 25,191,350 (GRCm39)	V1037A	probably benign	Het
Cspg5	C	A	9: 110,075,600 (GRCm39)	P112Q	probably damaging	Het
Cyp2g1	T	A	7: 26,513,607 (GRCm39)	I182N	probably damaging	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Dysf	C	A	6: 84,090,318 (GRCm39)	F956L	probably benign	Het
Ephb6	T	C	6: 41,596,528 (GRCm39)		probably benign	Het
Firrm	T	C	1: 163,810,380 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,368,858 (GRCm39)	R234Q	probably benign	Het
Gda	T	C	19: 21,374,920 (GRCm39)	D332G	probably benign	Het
Ggt7	C	T	2: 155,336,813 (GRCm39)	A560T	possibly damaging	Het
Glis3	A	T	19: 28,509,268 (GRCm39)	S239T	possibly damaging	Het
Gm10845	T	A	14: 80,100,644 (GRCm39)		noncoding transcript	Het
H2-M5	A	G	17: 37,300,034 (GRCm39)	F47L	possibly damaging	Het
Hsdl1	T	A	8: 120,292,517 (GRCm39)	S254C	probably damaging	Het
Igsf6	T	A	7: 120,673,677 (GRCm39)	I18F	probably benign	Het
Immt	A	G	6: 71,828,828 (GRCm39)	S128G	probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kif13a	G	T	13: 46,978,823 (GRCm39)		probably benign	Het
Kif14	T	C	1: 136,407,662 (GRCm39)		probably benign	Het
L2hgdh	A	T	12: 69,752,563 (GRCm39)	Y239*	probably null	Het
Lama3	T	C	18: 12,537,039 (GRCm39)	V228A	probably damaging	Het
Lamp1	A	G	8: 13,224,550 (GRCm39)	T405A	probably damaging	Het
Lpin1	A	T	12: 16,590,980 (GRCm39)	N817K	possibly damaging	Het
Luzp1	A	G	4: 136,269,996 (GRCm39)	K740E	probably damaging	Het
Mapk12	T	C	15: 89,017,187 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,763,480 (GRCm39)	N205K	probably damaging	Het
Myo1a	A	G	10: 127,555,749 (GRCm39)	I913V	probably benign	Het
Nat10	A	G	2: 103,587,550 (GRCm39)	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,524,529 (GRCm39)	E317G	possibly damaging	Het
Nomo1	T	C	7: 45,687,056 (GRCm39)	I72T	probably damaging	Het
Or5b98	A	G	19: 12,931,720 (GRCm39)	I256V	probably benign	Het
Or8d6	GC	G	9: 39,854,119 (GRCm39)		probably null	Het
Pappa2	C	T	1: 158,542,547 (GRCm39)	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 99,899,580 (GRCm39)	M65V	probably benign	Het
Plec	C	T	15: 76,060,518 (GRCm39)	E3162K	probably damaging	Het
Pnisr	T	C	4: 21,874,617 (GRCm39)		probably benign	Het
Pop7	A	G	5: 137,499,911 (GRCm39)	*141Q	probably null	Het
Prss34	A	T	17: 25,517,700 (GRCm39)	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,818,338 (GRCm39)		probably benign	Het
Pygb	A	G	2: 150,648,123 (GRCm39)	D119G	probably benign	Het
Racgap1	T	C	15: 99,540,839 (GRCm39)	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,326,570 (GRCm39)	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,802 (GRCm39)	V705L	probably benign	Het
Rgs1	C	T	1: 144,124,287 (GRCm39)	V50M	probably benign	Het
Rgs12	C	T	5: 35,124,008 (GRCm39)	T597I	probably benign	Het
Ros1	T	C	10: 52,018,363 (GRCm39)	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,450,182 (GRCm39)	R58G	probably damaging	Het
Serpinb10	T	A	1: 107,474,474 (GRCm39)	L212Q	probably damaging	Het
Slc6a7	A	G	18: 61,135,295 (GRCm39)	V411A	probably benign	Het
Slco1a6	A	T	6: 142,103,116 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,955,020 (GRCm39)	D1077E	probably damaging	Het
Srek1	G	A	13: 103,880,131 (GRCm39)	H476Y	unknown	Het
Strn3	A	G	12: 51,668,571 (GRCm39)	V673A	probably benign	Het
Tepsin	T	C	11: 119,982,637 (GRCm39)		probably null	Het
Timmdc1	A	C	16: 38,342,724 (GRCm39)	L58R	probably damaging	Het
Tmem132c	T	C	5: 127,631,733 (GRCm39)	V664A	possibly damaging	Het
Tmem241	A	T	18: 12,239,066 (GRCm39)		probably benign	Het
Tmprss15	T	C	16: 78,800,277 (GRCm39)	D602G	probably damaging	Het
Trbv15	T	C	6: 41,118,199 (GRCm39)		probably benign	Het
Wdr70	A	T	15: 8,049,068 (GRCm39)		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
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
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'- GCCTGTCCCTGTGCCTGTGA -3'
(R):5'- AGCAAGCCTACGGCCTTCCC -3'

Sequencing Primer
(F):5'- ctgtgcctgtgcctctg -3'
(R):5'- GTAGCTTTCCCCAGTCTGTCAC -3'

Posted On

2014-01-02