Mutagenetix > Incidental Mutation

Incidental Mutation 'R0230:Scube2'

34054

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

038473-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R0230 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109798676-109865679 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 109824764 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102340 (fasta)

Gene Model

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

AlphaFold

Q9JJS0

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132113

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

100% (83/83)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,156,825	H2012Q	probably damaging	Het
Amy1	T	C	3: 113,558,430	D371G	probably benign	Het
Asrgl1	T	A	19: 9,118,519		probably benign	Het
Asxl3	T	A	18: 22,452,326		probably benign	Het
B3galnt1	T	C	3: 69,575,340	N196S	possibly damaging	Het
Bbof1	A	G	12: 84,425,204	H74R	probably damaging	Het
Bpifb9b	C	T	2: 154,317,075	T504M	probably damaging	Het
Cdk12	T	G	11: 98,203,991	S208R	probably damaging	Het
Cdk5r1	T	C	11: 80,477,750	L81P	probably damaging	Het
Chrd	T	C	16: 20,733,275	L43P	probably benign	Het
Col6a4	A	C	9: 106,072,366	M690R	probably benign	Het
Cyp39a1	A	T	17: 43,732,012	R418W	probably damaging	Het
Dars2	C	T	1: 161,062,787	V162M	probably benign	Het
Dixdc1	C	T	9: 50,695,507	V270M	possibly damaging	Het
Dnah11	C	A	12: 117,983,056	E1194*	probably null	Het
Dnah7b	T	C	1: 46,219,348	S1900P	probably damaging	Het
Dnah9	C	T	11: 65,855,315	E3991K	probably damaging	Het
Dsp	A	T	13: 38,197,705	I2210F	probably benign	Het
Ebf1	A	G	11: 44,996,122	S556G	probably damaging	Het
Enam	G	A	5: 88,489,655		probably benign	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Epc1	T	C	18: 6,440,168	D579G	probably damaging	Het
Ephb3	A	T	16: 21,220,775	I426F	probably damaging	Het
Fam135b	T	G	15: 71,446,037	I1359L	probably benign	Het
Gm16519	T	C	17: 70,929,133	S26P	probably benign	Het
Gm17622	T	A	13: 96,491,086		probably null	Het
Gpat2	G	A	2: 127,435,845	V764I	possibly damaging	Het
Gpx4	G	A	10: 80,055,004	A81T	probably benign	Het
Gss	C	A	2: 155,578,406	R83L	probably damaging	Het
Hcls1	C	A	16: 36,937,854	Q36K	probably damaging	Het
Hepacam2	A	G	6: 3,463,336	V438A	probably benign	Het
Hnf4a	T	C	2: 163,559,085	F184S	probably damaging	Het
Katnal1	T	A	5: 148,918,650	D90V	possibly damaging	Het
Kcnt2	A	G	1: 140,246,345	D30G	probably benign	Het
Kyat1	T	C	2: 30,194,075	E11G	probably benign	Het
Lefty1	T	A	1: 180,937,014	V168E	probably damaging	Het
Map2k6	C	T	11: 110,496,455	P218S	probably damaging	Het
Mlkl	C	G	8: 111,315,062	K415N	probably benign	Het
Myh7	A	T	14: 54,973,933	M1593K	probably benign	Het
Myo19	T	A	11: 84,893,333	C186S	possibly damaging	Het
Ngp	T	C	9: 110,420,001	L47P	probably damaging	Het
Nkiras1	A	G	14: 18,280,185	N192S	probably benign	Het
Olfr1044	T	C	2: 86,171,542	I92V	probably benign	Het
Olfr134	A	G	17: 38,175,950	I289V	probably damaging	Het
Olfr346	G	A	2: 36,688,616	V205M	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pdcd6ip	A	G	9: 113,685,293		probably benign	Het
Pde4b	T	C	4: 102,597,510	Y186H	probably benign	Het
Pex7	A	G	10: 19,904,585	V101A	possibly damaging	Het
Phldb3	G	A	7: 24,612,579	R106Q	probably benign	Het
Plxnc1	A	G	10: 94,799,347	V1339A	probably benign	Het
Proser1	A	G	3: 53,478,962	N755S	probably damaging	Het
Ptpn13	A	G	5: 103,527,131	D658G	probably damaging	Het
Rassf8	A	C	6: 145,819,974		probably benign	Het
Rfc4	G	A	16: 23,114,099	Q363*	probably null	Het
Rxfp1	T	C	3: 79,644,975	N673S	probably damaging	Het
Scn7a	T	C	2: 66,726,284	E319G	probably damaging	Het
Scnn1g	A	G	7: 121,746,761		probably benign	Het
Slc4a4	A	C	5: 89,156,336	H502P	possibly damaging	Het
Slc6a13	A	G	6: 121,324,303	N184D	probably benign	Het
Slco1a5	T	A	6: 142,236,328		probably benign	Het
Slf1	T	A	13: 77,112,748		probably benign	Het
Smarca4	G	A	9: 21,700,872	V1518I	probably damaging	Het
Smyd3	A	G	1: 179,423,428		probably benign	Het
Sox5	A	G	6: 144,209,338	F11L	probably benign	Het
Spag17	T	C	3: 100,106,827	S2139P	probably benign	Het
Spice1	A	T	16: 44,365,576		probably benign	Het
Sptan1	T	A	2: 30,010,692		probably benign	Het
Srebf2	T	A	15: 82,182,085	N571K	probably damaging	Het
Tbl3	A	G	17: 24,701,333	L670P	probably damaging	Het
Tmem45a2	A	G	16: 57,046,996	V114A	possibly damaging	Het
Tmigd3	A	G	3: 105,918,737	N132D	possibly damaging	Het
Ttn	T	C	2: 76,737,434	D19378G	probably damaging	Het
Ugcg	C	A	4: 59,189,739	Y32*	probably null	Het
Ush2a	C	T	1: 188,850,104	P3788L	probably damaging	Het
Usp22	T	A	11: 61,159,197		probably benign	Het
Xaf1	T	C	11: 72,306,555		probably benign	Het
Zbtb41	C	T	1: 139,446,935	T711I	probably damaging	Het
Zfp457	T	C	13: 67,294,116	T132A	possibly damaging	Het
Zfp64	T	G	2: 168,912,230		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
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
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'- TTGCCTTTGCACAAACCTATGCAC -3'
(R):5'- AGAAGAGACTGCGGAAAGCTCTCC -3'

Sequencing Primer
(F):5'- GTGCAGTCCTACAAATATTGCC -3'
(R):5'- CGCACACTCAAGAGAGCTG -3'

Posted On

2013-05-09