Mutagenetix > Incidental Mutation

Incidental Mutation 'R4841:Scube3'

371869

Institutional Source

Beutler Lab

Gene Symbol

Scube3

Ensembl Gene

ENSMUSG00000038677

Gene Name

signal peptide, CUB domain, EGF-like 3

Synonyms

D030038I21Rik

MMRRC Submission

042454-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.403) question?

Stock #

R4841 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28361115-28393828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28383097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 425 (C425Y)

Ref Sequence

ENSEMBL: ENSMUSP00000038366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043503]

AlphaFold

Q66PY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000043503
AA Change: C425Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038366
Gene: ENSMUSG00000038677
AA Change: C425Y

Domain	Start	End	E-Value	Type
low complexity region	9	15	N/A	INTRINSIC
EGF_CA	29	69	5.23e-9	SMART
EGF_CA	70	111	1.2e-8	SMART
EGF_CA	112	152	1.14e-9	SMART
EGF	160	198	6.65e-2	SMART
EGF	200	237	7.95e0	SMART
EGF	239	276	7.76e-3	SMART
EGF_CA	277	317	7.63e-11	SMART
EGF_CA	318	356	7.01e-10	SMART
EGF_CA	357	398	6.8e-8	SMART
Pfam:GCC2_GCC3	642	689	8.6e-15	PFAM
Pfam:GCC2_GCC3	696	743	4.2e-17	PFAM
Pfam:GCC2_GCC3	752	799	5.8e-17	PFAM
CUB	804	916	1.09e-16	SMART
Blast:CUB	942	988	8e-15	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000132670
AA Change: C341Y

SMART Domains

Protein: ENSMUSP00000117490
Gene: ENSMUSG00000038677
AA Change: C341Y

Domain	Start	End	E-Value	Type
EGF_like	1	28	1.2e-1	SMART
EGF_CA	29	69	1.14e-9	SMART
EGF	77	115	6.65e-2	SMART
EGF	117	154	7.95e0	SMART
EGF	156	193	7.76e-3	SMART
EGF_CA	194	234	7.63e-11	SMART
EGF_CA	235	273	7.01e-10	SMART
EGF_CA	274	315	6.8e-8	SMART
Pfam:GCC2_GCC3	559	606	1.8e-17	PFAM
Pfam:GCC2_GCC3	615	662	4.2e-17	PFAM
CUB	667	779	1.09e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148342

Meta Mutation Damage Score

0.8611

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a targeted allele encoding a truncated protein exhibit normal morphology. Mice with a point mutation show skeletal abnormalities, bone metabolism alterations, changes in renal function, behavioral alternations and hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 15,164,001 (GRCm39)	I43L	possibly damaging	Het
4933427I04Rik	T	A	4: 123,754,170 (GRCm39)	M28K	probably benign	Het
A2m	A	T	6: 121,623,803 (GRCm39)	I390F	probably benign	Het
Abcc8	T	C	7: 45,800,252 (GRCm39)	K510R	probably damaging	Het
Adamts6	A	G	13: 104,449,295 (GRCm39)	D39G	probably benign	Het
Adgrl3	T	C	5: 81,942,118 (GRCm39)	S1326P	possibly damaging	Het
Adgrv1	A	G	13: 81,651,120 (GRCm39)		probably null	Het
Ap3b2	G	A	7: 81,127,678 (GRCm39)	A166V	probably damaging	Het
Bbox1	T	A	2: 110,134,084 (GRCm39)		probably null	Het
Bckdk	A	G	7: 127,504,633 (GRCm39)		probably null	Het
Cand1	C	A	10: 119,049,451 (GRCm39)		probably null	Het
Capn5	T	C	7: 97,780,879 (GRCm39)		probably null	Het
Ccdc121rt2	A	T	5: 112,598,106 (GRCm39)	K218*	probably null	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Ces1g	C	T	8: 94,060,323 (GRCm39)	E99K	probably benign	Het
Cnmd	A	G	14: 79,887,762 (GRCm39)	I153T	possibly damaging	Het
Cntrob	C	G	11: 69,206,220 (GRCm39)	L315F	possibly damaging	Het
Cspg4b	G	A	13: 113,502,724 (GRCm39)	G143D	probably benign	Het
Ctdp1	A	G	18: 80,451,941 (GRCm39)	S145P	unknown	Het
Dmrt2	G	A	19: 25,655,031 (GRCm39)	G210D	probably damaging	Het
Dnajc16	A	G	4: 141,501,936 (GRCm39)	F298S	probably damaging	Het
Dock5	T	C	14: 68,055,012 (GRCm39)	D618G	probably damaging	Het
Drc3	G	A	11: 60,261,361 (GRCm39)	A171T	probably benign	Het
Dspp	A	T	5: 104,325,052 (GRCm39)	S472C	unknown	Het
Dspp	G	T	5: 104,325,053 (GRCm39)	S472I	unknown	Het
Ecel1	A	T	1: 87,081,023 (GRCm39)	N322K	probably damaging	Het
Eftud2	A	G	11: 102,745,640 (GRCm39)	F362L	probably damaging	Het
Egfr	C	T	11: 16,861,607 (GRCm39)	H1129Y	probably benign	Het
Erich3	T	A	3: 154,410,480 (GRCm39)	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,779,580 (GRCm39)	L261S	probably damaging	Het
Fancd2	T	C	6: 113,539,391 (GRCm39)	S239P	probably damaging	Het
Fbp2	C	A	13: 63,002,727 (GRCm39)	Q108H	probably benign	Het
Fcgbpl1	T	A	7: 27,850,147 (GRCm39)	C1198S	probably damaging	Het
Gask1b	G	A	3: 79,843,912 (GRCm39)	R377H	probably damaging	Het
Gipr	C	T	7: 18,896,601 (GRCm39)	R165H	probably damaging	Het
Gje1	C	T	10: 14,593,082 (GRCm39)	G45R	probably null	Het
Gpat2	C	G	2: 127,275,887 (GRCm39)	T555S	probably benign	Het
Grik3	C	A	4: 125,584,969 (GRCm39)	N612K	probably damaging	Het
Iqcb1	A	G	16: 36,655,952 (GRCm39)	E113G	probably benign	Het
Kat8	A	G	7: 127,524,366 (GRCm39)	I415V	probably benign	Het
Kcnk10	A	T	12: 98,401,175 (GRCm39)	M486K	probably benign	Het
Kif21b	C	A	1: 136,072,958 (GRCm39)	H119N	probably damaging	Het
Leng9	T	C	7: 4,152,385 (GRCm39)	D97G	probably damaging	Het
Lrguk	T	C	6: 34,069,802 (GRCm39)	V559A	probably damaging	Het
Lrp1	G	T	10: 127,419,805 (GRCm39)	R935S	probably damaging	Het
Lrrcc1	C	A	3: 14,627,571 (GRCm39)	D503E	probably benign	Het
Mybph	A	T	1: 134,126,233 (GRCm39)	E349V	probably damaging	Het
Myzap	A	G	9: 71,456,037 (GRCm39)	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,292,534 (GRCm39)	L1062P	probably damaging	Het
Nepro	G	A	16: 44,555,160 (GRCm39)	S412N	probably null	Het
Nudt5	T	C	2: 5,869,239 (GRCm39)	V155A	probably benign	Het
Or13a25	A	T	7: 140,247,502 (GRCm39)	I94F	probably damaging	Het
Or4k51	C	G	2: 111,584,679 (GRCm39)	F28L	probably benign	Het
Or5ae2	G	T	7: 84,506,328 (GRCm39)	L250F	probably damaging	Het
Or6ae1	A	G	7: 139,742,602 (GRCm39)	L87P	possibly damaging	Het
Osbpl3	T	A	6: 50,286,356 (GRCm39)	N623I	probably damaging	Het
Pde4dip	T	A	3: 97,700,844 (GRCm39)	H220L	probably damaging	Het
Pde9a	T	A	17: 31,662,135 (GRCm39)		probably null	Het
Pex16	T	G	2: 92,209,544 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,870,064 (GRCm39)	T15A	probably benign	Het
Polq	G	T	16: 36,869,145 (GRCm39)		probably null	Het
Ppfia2	C	T	10: 106,690,818 (GRCm39)	T553I	probably benign	Het
Rreb1	G	A	13: 38,100,502 (GRCm39)	C211Y	probably benign	Het
Rundc3b	A	G	5: 8,578,742 (GRCm39)	L222P	probably damaging	Het
Ryr3	T	C	2: 112,478,718 (GRCm39)	N4405S	probably damaging	Het
Sardh	A	G	2: 27,081,967 (GRCm39)	V853A	probably benign	Het
Scfd1	T	C	12: 51,436,109 (GRCm39)	V86A	probably damaging	Het
Sfta2	T	C	17: 35,960,773 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,031,049 (GRCm39)	Y738H	probably damaging	Het
Shc2	T	C	10: 79,458,295 (GRCm39)	R463G	probably damaging	Het
Slc4a10	T	C	2: 62,087,939 (GRCm39)	V414A	possibly damaging	Het
Slc9a3	G	T	13: 74,313,956 (GRCm39)	D755Y	probably damaging	Het
Snrpb2	C	A	2: 142,910,237 (GRCm39)	F98L	possibly damaging	Het
Socs7	T	A	11: 97,267,829 (GRCm39)	I320N	possibly damaging	Het
Speer2	A	T	16: 69,654,988 (GRCm39)	M159K	probably benign	Het
Sppl2c	A	C	11: 104,078,478 (GRCm39)	H426P	probably benign	Het
Stxbp5	C	A	10: 9,638,635 (GRCm39)	V1055L	probably benign	Het
Synpo	A	T	18: 60,736,684 (GRCm39)	S421T	probably damaging	Het
Taf6l	A	G	19: 8,759,770 (GRCm39)	V135A	possibly damaging	Het
Tafa5	C	T	15: 87,509,637 (GRCm39)		probably benign	Het
Trim58	G	A	11: 58,542,150 (GRCm39)	G370E	probably damaging	Het
Tshz2	T	A	2: 169,728,167 (GRCm39)	I452N	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Vit	T	C	17: 78,909,308 (GRCm39)	S252P	probably benign	Het
Vmn1r173	A	T	7: 23,402,361 (GRCm39)	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,529,336 (GRCm39)	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,582,246 (GRCm39)	N545S	probably damaging	Het
Zbtb44	T	G	9: 30,964,701 (GRCm39)	V37G	probably damaging	Het
Zfp865	A	G	7: 5,034,640 (GRCm39)	Y875C	probably damaging	Het

Other mutations in Scube3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:Scube3	APN	17	28,386,658 (GRCm39)	missense	probably damaging	1.00
IGL02189:Scube3	APN	17	28,381,970 (GRCm39)	missense	probably benign
IGL02416:Scube3	APN	17	28,383,110 (GRCm39)	missense	probably damaging	1.00
IGL02904:Scube3	APN	17	28,386,574 (GRCm39)	missense	probably benign	0.01
IGL03153:Scube3	APN	17	28,386,032 (GRCm39)	missense	possibly damaging	0.54
IGL03309:Scube3	APN	17	28,383,331 (GRCm39)	nonsense	probably null
dinklage	UTSW	17	28,381,362 (GRCm39)	missense	probably damaging	1.00
R0027:Scube3	UTSW	17	28,383,331 (GRCm39)	nonsense	probably null
R0084:Scube3	UTSW	17	28,381,935 (GRCm39)	missense	probably benign	0.12
R0122:Scube3	UTSW	17	28,385,502 (GRCm39)	splice site	probably benign
R0544:Scube3	UTSW	17	28,383,127 (GRCm39)	missense	probably damaging	1.00
R1779:Scube3	UTSW	17	28,387,353 (GRCm39)	splice site	probably benign
R1842:Scube3	UTSW	17	28,384,063 (GRCm39)	missense	probably damaging	1.00
R1878:Scube3	UTSW	17	28,371,387 (GRCm39)	missense	probably benign	0.10
R1950:Scube3	UTSW	17	28,383,274 (GRCm39)	missense	possibly damaging	0.66
R2011:Scube3	UTSW	17	28,387,132 (GRCm39)	missense	probably damaging	0.99
R2164:Scube3	UTSW	17	28,385,108 (GRCm39)	missense	possibly damaging	0.64
R4356:Scube3	UTSW	17	28,383,283 (GRCm39)	missense	probably benign	0.01
R4392:Scube3	UTSW	17	28,383,762 (GRCm39)	missense	probably null
R4528:Scube3	UTSW	17	28,381,973 (GRCm39)	missense	possibly damaging	0.82
R4709:Scube3	UTSW	17	28,386,166 (GRCm39)	splice site	probably null
R4809:Scube3	UTSW	17	28,384,147 (GRCm39)	missense	probably damaging	1.00
R4832:Scube3	UTSW	17	28,384,989 (GRCm39)	missense	probably damaging	0.98
R4842:Scube3	UTSW	17	28,383,097 (GRCm39)	missense	probably damaging	1.00
R5372:Scube3	UTSW	17	28,371,456 (GRCm39)	missense	probably damaging	0.99
R5889:Scube3	UTSW	17	28,379,887 (GRCm39)	missense	possibly damaging	0.84
R5936:Scube3	UTSW	17	28,384,461 (GRCm39)	missense	probably damaging	1.00
R6523:Scube3	UTSW	17	28,381,362 (GRCm39)	missense	probably damaging	1.00
R7051:Scube3	UTSW	17	28,386,573 (GRCm39)	missense	probably benign
R7337:Scube3	UTSW	17	28,387,156 (GRCm39)	missense	probably damaging	1.00
R7699:Scube3	UTSW	17	28,386,023 (GRCm39)	missense	probably damaging	1.00
R7700:Scube3	UTSW	17	28,386,023 (GRCm39)	missense	probably damaging	1.00
R7848:Scube3	UTSW	17	28,384,569 (GRCm39)	missense	probably benign
R7950:Scube3	UTSW	17	28,390,200 (GRCm39)	missense	probably benign	0.11
R8991:Scube3	UTSW	17	28,383,027 (GRCm39)	missense	probably damaging	0.98
R9376:Scube3	UTSW	17	28,383,670 (GRCm39)	missense	possibly damaging	0.92
R9469:Scube3	UTSW	17	28,386,138 (GRCm39)	nonsense	probably null
R9653:Scube3	UTSW	17	28,375,772 (GRCm39)	missense	probably damaging	1.00
R9660:Scube3	UTSW	17	28,371,414 (GRCm39)	missense	probably benign	0.05
RF009:Scube3	UTSW	17	28,387,371 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAATGCTGTTTCAGGGGAAG -3'
(R):5'- AAGAAGGGGCTTATCACAGC -3'

Sequencing Primer
(F):5'- CAGGTCTCCTTGGGCATGTAAC -3'
(R):5'- GGGCTTATCACAGCTCTGAC -3'

Posted On

2016-03-01