Mutagenetix > Incidental Mutation

Incidental Mutation 'R1797:Scube2'

202372

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

039827-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.551) question?

Stock #

R1797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109798676-109865679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109831675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 439 (D439G)

Ref Sequence

ENSEMBL: ENSMUSP00000102339 (fasta)

Gene Model

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

AlphaFold

Q9JJS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000007423
AA Change: D439G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: D439G

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: D439G

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

SMART Domains

Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: D439G

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: D439G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: D439G

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,198,459	K200E	possibly damaging	Het
5830473C10Rik	A	T	5: 90,579,601	E359D	probably damaging	Het
Abcc2	A	G	19: 43,814,786	E687G	possibly damaging	Het
Abcc2	A	T	19: 43,833,987	Q1421H	probably damaging	Het
Abcg3	C	T	5: 104,939,164	S534N	possibly damaging	Het
Acp1	A	G	12: 30,896,114		probably null	Het
Adam12	C	A	7: 133,967,861	R295L	probably benign	Het
Alg1	C	A	16: 5,239,143	H213Q	probably benign	Het
Ap4b1	T	A	3: 103,818,833	W410R	possibly damaging	Het
As3mt	A	G	19: 46,724,934	T307A	possibly damaging	Het
Cdc14a	T	C	3: 116,322,194	I289V	probably damaging	Het
Cdk17	A	G	10: 93,208,252	I18V	possibly damaging	Het
Cep131	C	T	11: 120,073,736		probably null	Het
Clca3a2	A	G	3: 144,797,637	Y851H	probably benign	Het
Cnih2	T	C	19: 5,094,286	K66E	probably benign	Het
Cpsf3	T	A	12: 21,306,850	N491K	probably benign	Het
Cux1	C	T	5: 136,275,315	E1253K	probably benign	Het
Dcc	A	C	18: 71,367,161	L1005R	probably damaging	Het
Ddx19b	A	T	8: 111,012,807	M200K	probably damaging	Het
Ech1	A	G	7: 28,831,863	Y292C	probably damaging	Het
Edc4	G	T	8: 105,891,085	A1121S	probably benign	Het
Eml6	T	A	11: 29,882,041	I210F	probably benign	Het
Fam135b	T	C	15: 71,452,441	T1226A	probably benign	Het
Flg2	C	T	3: 93,200,976	R104C	probably damaging	Het
Frzb	T	C	2: 80,446,528	I105V	possibly damaging	Het
Gli3	A	G	13: 15,713,512	D504G	probably damaging	Het
Gm42669	A	T	5: 107,507,817	K1161*	probably null	Het
Gm6665	T	C	18: 31,820,133	E63G	possibly damaging	Het
Gm9923	T	C	10: 72,309,763	V148A	probably benign	Het
Hoxc5	T	C	15: 103,014,434	I118T	probably benign	Het
Hsp90b1	A	G	10: 86,701,745	V232A	possibly damaging	Het
Impdh1	T	A	6: 29,207,169	I59F	probably damaging	Het
Iqch	G	A	9: 63,588,377	P111S	possibly damaging	Het
Itih1	G	T	14: 30,929,899	Q829K	probably damaging	Het
Kcnh2	C	T	5: 24,322,672	R894H	probably damaging	Het
Kmt5b	G	T	19: 3,814,833	E632D	probably benign	Het
L2hgdh	C	T	12: 69,699,566	M373I	probably benign	Het
Map3k4	C	T	17: 12,264,019	E604K	probably benign	Het
Mok	T	A	12: 110,808,045	Y420F	probably benign	Het
Nedd1	G	A	10: 92,698,739	T303I	possibly damaging	Het
Nipal4	T	A	11: 46,151,333	M174L	probably benign	Het
Olfr806	A	C	10: 129,738,709	I69M	probably benign	Het
Pag1	T	A	3: 9,693,886	T391S	probably benign	Het
Palm3	A	G	8: 84,028,803	R315G	probably benign	Het
Patj	C	T	4: 98,687,438	R1177W	probably damaging	Het
Pbld2	G	A	10: 63,075,124		probably null	Het
Phldb1	A	T	9: 44,716,545	M81K	probably damaging	Het
Pkn2	A	G	3: 142,809,528	F682L	probably damaging	Het
Plce1	T	C	19: 38,758,948		probably null	Het
Plekha8	T	A	6: 54,640,974	V518E	probably damaging	Het
Ppp1r3a	T	A	6: 14,717,982	M978L	probably benign	Het
Ppp4r4	T	A	12: 103,598,151	C592S	possibly damaging	Het
Prdx6b	T	A	2: 80,293,202	D118E	possibly damaging	Het
Ptprg	T	C	14: 12,199,743	V52A	probably damaging	Het
Rab27b	A	G	18: 69,989,546	M114T	probably damaging	Het
Ralgps1	A	G	2: 33,340,711		probably null	Het
Rasa3	G	A	8: 13,582,372	P506L	probably benign	Het
Rps6kb1	G	A	11: 86,502,808	R499*	probably null	Het
S1pr4	A	G	10: 81,499,190	M150T	probably damaging	Het
Serpina1e	T	C	12: 103,950,891	K173R	probably benign	Het
Serpina3m	T	A	12: 104,389,515	I147N	probably damaging	Het
Sh3rf3	G	T	10: 59,086,667	G522*	probably null	Het
Smad1	A	T	8: 79,343,844	V355E	probably damaging	Het
Srsf11	A	G	3: 158,019,428	V211A	possibly damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stt3a	C	T	9: 36,743,415		probably null	Het
Syne2	T	C	12: 75,963,783	V2488A	probably benign	Het
Tbc1d23	T	C	16: 57,173,100	T568A	possibly damaging	Het
Tnn	A	C	1: 160,140,688	V378G	probably damaging	Het
Trim50	T	C	5: 135,353,501	V69A	possibly damaging	Het
Ttll10	A	T	4: 156,047,567	D19E	probably damaging	Het
Ushbp1	G	A	8: 71,388,923	R421C	probably damaging	Het
Vmn2r2	T	C	3: 64,134,707	T196A	probably benign	Het
Wdr64	G	A	1: 175,812,019	S1028N	probably damaging	Het
Wwtr1	T	C	3: 57,462,575	Y373C	probably damaging	Het
Zeb1	A	T	18: 5,766,298	K216*	probably null	Het
Zfp39	T	C	11: 58,900,660	D67G	probably damaging	Het
Zfp40	A	G	17: 23,175,540	I691T	possibly damaging	Het
Zfp532	T	C	18: 65,625,144	V716A	probably benign	Het
Zfp616	T	A	11: 74,085,279	C791*	probably null	Het
Zfp932	G	A	5: 109,996,623		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
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
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'- AGCCTGAGAAGTACCTCCTG -3'
(R):5'- GCATGTCCCTCAAAATGACTGTC -3'

Sequencing Primer
(F):5'- AGAAGTACCTCCTGTTTTTGGAC -3'
(R):5'- ATGACTGTCAACCATGTGACTC -3'

Posted On

2014-06-23