Mutagenetix > Incidental Mutation

Incidental Mutation 'R1950:Scube3'

217251

Institutional Source

Beutler Lab

Gene Symbol

Scube3

Ensembl Gene

ENSMUSG00000038677

Gene Name

signal peptide, CUB domain, EGF-like 3

Synonyms

D030038I21Rik

Accession Numbers

Essential gene?

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

Stock #

R1950 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

28361115-28393828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28383274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 439 (S439P)

Ref Sequence

ENSEMBL: ENSMUSP00000038366 (fasta)

Gene Model

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

AlphaFold

Q66PY1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043503
AA Change: S439P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038366
Gene: ENSMUSG00000038677
AA Change: S439P

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: S355P

SMART Domains

Protein: ENSMUSP00000117490
Gene: ENSMUSG00000038677
AA Change: S355P

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,010,677 (GRCm39)	N478S	probably damaging	Het
Als2	T	A	1: 59,224,760 (GRCm39)		probably null	Het
Ankfy1	A	G	11: 72,651,155 (GRCm39)	Y1035C	probably damaging	Het
Ankrd11	T	C	8: 123,616,608 (GRCm39)	T2394A	probably damaging	Het
Axin1	G	C	17: 26,412,938 (GRCm39)	G780R	possibly damaging	Het
Carm1	A	T	9: 21,485,812 (GRCm39)	T127S	probably benign	Het
Ccdc73	T	C	2: 104,757,280 (GRCm39)	I81T	probably benign	Het
Cdh12	T	C	15: 21,237,965 (GRCm39)	Y67H	probably damaging	Het
Cfap65	C	A	1: 74,946,819 (GRCm39)	G1297V	probably damaging	Het
Cfap74	T	C	4: 155,511,887 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,078,968 (GRCm39)	Y426C	probably damaging	Het
Clpp	A	G	17: 57,303,039 (GRCm39)		probably benign	Het
Clrn3	T	G	7: 135,115,813 (GRCm39)	Y179S	possibly damaging	Het
Cntn5	A	C	9: 9,781,774 (GRCm39)	M635R	probably damaging	Het
Col12a1	A	T	9: 79,537,831 (GRCm39)	S2546T	possibly damaging	Het
Ctla2b	T	C	13: 61,043,863 (GRCm39)	N102S	possibly damaging	Het
Cwf19l2	A	T	9: 3,418,674 (GRCm39)	I154F	probably benign	Het
Dffa	C	A	4: 149,188,839 (GRCm39)	S44R	probably benign	Het
Ehbp1	T	A	11: 22,009,228 (GRCm39)	K930M	probably damaging	Het
Erc2	T	A	14: 27,634,857 (GRCm39)	S473T	probably damaging	Het
Fbxw24	A	T	9: 109,434,481 (GRCm39)	L373H	probably benign	Het
Fer1l4	T	C	2: 155,890,194 (GRCm39)	I244V	probably damaging	Het
Fgfr2	G	A	7: 129,800,211 (GRCm39)	T245M	probably damaging	Het
Garin1b	C	T	6: 29,335,815 (GRCm39)		probably null	Het
Gbp9	T	A	5: 105,229,112 (GRCm39)	M512L	probably benign	Het
Glg1	T	A	8: 111,892,271 (GRCm39)	K251I	possibly damaging	Het
Gm10553	A	G	1: 85,078,141 (GRCm39)	D86G	possibly damaging	Het
Gm5622	T	C	14: 51,893,229 (GRCm39)	V52A	probably benign	Het
Gucy1b1	A	G	3: 81,952,716 (GRCm39)	V239A	probably benign	Het
Gzma	A	G	13: 113,230,463 (GRCm39)	L246P	probably damaging	Het
Hibadh	C	A	6: 52,533,448 (GRCm39)	A223S	probably benign	Het
Hydin	C	A	8: 111,336,619 (GRCm39)	T5132N	possibly damaging	Het
Insrr	A	G	3: 87,721,820 (GRCm39)	N1198S	probably damaging	Het
Ivl	T	C	3: 92,479,420 (GRCm39)	E215G	possibly damaging	Het
Jmjd1c	A	G	10: 67,075,701 (GRCm39)	D2037G	possibly damaging	Het
Kcna3	G	A	3: 106,944,988 (GRCm39)	C417Y	probably damaging	Het
Klra2	T	C	6: 131,207,078 (GRCm39)	N177S	probably benign	Het
Llgl2	T	C	11: 115,741,892 (GRCm39)	S645P	probably damaging	Het
Lrrc15	T	C	16: 30,092,649 (GRCm39)	E230G	probably benign	Het
Magel2	C	A	7: 62,028,163 (GRCm39)	Q356K	possibly damaging	Het
Mcm6	A	G	1: 128,273,726 (GRCm39)	V368A	probably benign	Het
Myh8	G	A	11: 67,169,830 (GRCm39)	V50M	possibly damaging	Het
Myrf	A	T	19: 10,195,554 (GRCm39)	F419I	possibly damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or10ak16	G	A	4: 118,750,537 (GRCm39)	V86M	probably benign	Het
Or52i2	A	G	7: 102,319,684 (GRCm39)	M186V	probably benign	Het
Otud4	G	A	8: 80,372,961 (GRCm39)	R93H	probably damaging	Het
Pank4	T	A	4: 155,056,977 (GRCm39)	M390K	probably benign	Het
Pecam1	A	G	11: 106,576,029 (GRCm39)	V401A	probably damaging	Het
Prdm6	C	A	18: 53,669,796 (GRCm39)	T138K	possibly damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prpf8	A	G	11: 75,387,337 (GRCm39)	E1206G	possibly damaging	Het
Prr30	A	T	14: 101,435,377 (GRCm39)	I395N	probably benign	Het
Rab27a	G	A	9: 72,982,751 (GRCm39)	G19R	probably damaging	Het
Ramacl	A	G	13: 67,055,269 (GRCm39)		probably benign	Het
Rrp12	A	G	19: 41,881,029 (GRCm39)	V134A	probably damaging	Het
Scly	A	G	1: 91,233,116 (GRCm39)	T76A	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sipa1l1	T	C	12: 82,388,233 (GRCm39)	F153S	probably damaging	Het
Slc25a30	T	G	14: 76,007,007 (GRCm39)	K163T	possibly damaging	Het
Slc26a8	T	A	17: 28,863,614 (GRCm39)	D715V	probably benign	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Smr2	C	CT	5: 88,256,685 (GRCm39)		probably null	Het
Sp6	T	G	11: 96,912,940 (GRCm39)	S218A	probably benign	Het
Spata21	T	C	4: 140,838,716 (GRCm39)	V589A	probably damaging	Het
Sycp2	T	C	2: 178,044,593 (GRCm39)	I71V	probably benign	Het
Syne2	G	T	12: 75,999,644 (GRCm39)	G2347C	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Thbs4	A	T	13: 92,906,079 (GRCm39)	N387K	probably damaging	Het
Tmem184a	T	C	5: 139,793,381 (GRCm39)	D216G	probably damaging	Het
Tprg1	T	A	16: 25,136,098 (GRCm39)	S30T	possibly damaging	Het
Trip12	A	T	1: 84,738,522 (GRCm39)	W778R	probably damaging	Het
Ttpa	T	C	4: 20,008,633 (GRCm39)	L65P	probably damaging	Het
Ush2a	A	T	1: 188,487,382 (GRCm39)	N3050I	probably damaging	Het
Xpot	T	C	10: 121,455,053 (GRCm39)	I30V	probably benign	Het
Zfp944	A	G	17: 22,558,681 (GRCm39)	S189P	probably benign	Het
Zftraf1	A	G	15: 76,543,417 (GRCm39)		probably null	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
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
R4841:Scube3	UTSW	17	28,383,097 (GRCm39)	missense	probably damaging	1.00
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'- GGATACTTGTGCCCTGACCTG -3'
(R):5'- CTCCGAGCTCAGCAGTAAGG -3'

Sequencing Primer
(F):5'- TGACCTGTCCCTCCCGG -3'
(R):5'- CTCCGAGCTCAGCAGTAAGGTTTAG -3'

Posted On

2014-08-01