Mutagenetix > Incidental Mutation

Incidental Mutation 'R5936:Scube3'

462296

Institutional Source

Beutler Lab

Gene Symbol

Scube3

Ensembl Gene

ENSMUSG00000038677

Gene Name

signal peptide, CUB domain, EGF-like 3

Synonyms

D030038I21Rik

MMRRC Submission

044130-MU

Accession Numbers

Essential gene?

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

Stock #

R5936 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28361115-28393828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28384461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 585 (K585M)

Ref Sequence

ENSEMBL: ENSMUSP00000038366 (fasta)

Gene Model

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

AlphaFold

Q66PY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000043503
AA Change: K585M

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

SMART Domains

Protein: ENSMUSP00000038366
Gene: ENSMUSG00000038677
AA Change: K585M

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: K501M

SMART Domains

Protein: ENSMUSP00000117490
Gene: ENSMUSG00000038677
AA Change: K501M

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

0.0914

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

91% (77/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,848 (GRCm39)		probably benign	Het
Acnat2	T	C	4: 49,383,362 (GRCm39)	T64A	probably benign	Het
Afap1	A	G	5: 36,131,740 (GRCm39)	N356D	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Alpk2	G	A	18: 65,483,591 (GRCm39)	T139M	probably damaging	Het
Ankrd46	T	C	15: 36,479,428 (GRCm39)	D221G	probably benign	Het
Ano6	T	A	15: 95,870,482 (GRCm39)	L900H	probably damaging	Het
Asphd2	G	A	5: 112,533,623 (GRCm39)	R343*	probably null	Het
Atosa	T	C	9: 74,916,586 (GRCm39)	L395P	probably benign	Het
Brdt	A	G	5: 107,507,261 (GRCm39)	T554A	probably damaging	Het
Cacna1d	A	G	14: 29,893,271 (GRCm39)	V401A	possibly damaging	Het
Cbs	T	C	17: 31,844,068 (GRCm39)	T188A	probably damaging	Het
Cfap54	T	A	10: 92,798,274 (GRCm39)	T1662S	probably benign	Het
Chka	A	G	19: 3,934,580 (GRCm39)	I205V	probably benign	Het
Chsy1	T	A	7: 65,822,025 (GRCm39)	N753K	possibly damaging	Het
Cpz	A	G	5: 35,659,987 (GRCm39)	S553P	probably benign	Het
Crtac1	A	G	19: 42,312,276 (GRCm39)	Y146H	probably damaging	Het
Csf1r	A	T	18: 61,258,880 (GRCm39)	I700F	probably damaging	Het
Ddx20	C	A	3: 105,587,903 (GRCm39)	E392D	possibly damaging	Het
Dhrs11	G	T	11: 84,716,350 (GRCm39)	Y67*	probably null	Het
Diaph3	G	T	14: 87,009,552 (GRCm39)	Q1076K	possibly damaging	Het
Dop1a	T	A	9: 86,418,565 (GRCm39)	L2037*	probably null	Het
Dst	G	T	1: 34,346,539 (GRCm39)	V5336L	probably damaging	Het
Etv1	C	A	12: 38,885,209 (GRCm39)	H248Q	probably damaging	Het
Fcgbp	T	C	7: 27,786,117 (GRCm39)	V518A	probably damaging	Het
Fchsd2	T	C	7: 100,840,908 (GRCm39)	L139S	probably damaging	Het
Fer	A	T	17: 64,231,058 (GRCm39)	T270S	probably benign	Het
Fgd5	A	G	6: 91,964,892 (GRCm39)	E375G	probably damaging	Het
Firrm	T	G	1: 163,814,581 (GRCm39)	I121L	probably benign	Het
Gabarapl1	T	A	6: 129,515,566 (GRCm39)	I68N	probably benign	Het
Gopc	C	T	10: 52,222,295 (GRCm39)	V30M	probably damaging	Het
Hbp1	T	C	12: 31,987,095 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,872,560 (GRCm39)	V2480A	probably damaging	Het
Igfbp3	T	A	11: 7,159,472 (GRCm39)	Y247F	probably damaging	Het
Kbtbd11	C	A	8: 15,077,534 (GRCm39)	S44R	probably benign	Het
Kcnk10	G	T	12: 98,456,191 (GRCm39)	S213R	probably benign	Het
Kcnq3	T	A	15: 65,871,959 (GRCm39)	D570V	probably damaging	Het
Kif21a	A	G	15: 90,819,850 (GRCm39)	F1594S	possibly damaging	Het
Klf3	A	G	5: 64,980,303 (GRCm39)	D31G	probably damaging	Het
Mapkapk3	T	C	9: 107,166,369 (GRCm39)	K59E	probably damaging	Het
Myo18a	A	G	11: 77,709,039 (GRCm39)	T484A	probably damaging	Het
Nlrp6	T	A	7: 140,502,725 (GRCm39)	L277*	probably null	Het
Nr5a1	G	T	2: 38,591,790 (GRCm39)		probably benign	Het
Nsmaf	C	T	4: 6,421,017 (GRCm39)		probably benign	Het
Or4f58	T	A	2: 111,851,932 (GRCm39)	H89L	probably benign	Het
Orc1	A	G	4: 108,459,180 (GRCm39)	T450A	probably benign	Het
Pacsin1	A	T	17: 27,923,971 (GRCm39)	I122F	probably benign	Het
Pced1b	T	A	15: 97,283,061 (GRCm39)	Y367N	possibly damaging	Het
Pced1b	T	A	15: 97,283,063 (GRCm39)	Y367*	probably null	Het
Pdpk1	A	G	17: 24,312,203 (GRCm39)	F281L	probably damaging	Het
Piwil1	T	C	5: 128,828,142 (GRCm39)	V714A	probably benign	Het
Plcd3	C	T	11: 102,969,173 (GRCm39)	V265M	probably damaging	Het
Ppp1r1c	A	T	2: 79,586,798 (GRCm39)	E48V	possibly damaging	Het
Prl2b1	T	G	13: 27,572,432 (GRCm39)	T53P	probably damaging	Het
Ptch2	T	G	4: 116,965,491 (GRCm39)	F359V	probably benign	Het
R3hdm2	G	A	10: 127,307,681 (GRCm39)	S314N	probably damaging	Het
Rictor	A	T	15: 6,813,642 (GRCm39)	S1043C	probably damaging	Het
Rtn4rl2	A	T	2: 84,710,775 (GRCm39)	L163Q	probably damaging	Het
Sarnp	T	A	10: 128,684,640 (GRCm39)	S129T	probably benign	Het
Sgk3	C	T	1: 9,956,045 (GRCm39)		probably benign	Het
Skint6	C	T	4: 112,953,790 (GRCm39)	S458N	probably benign	Het
Slc25a54	A	G	3: 109,005,954 (GRCm39)	H154R	possibly damaging	Het
Sorbs1	A	C	19: 40,313,216 (GRCm39)	I690S	probably damaging	Het
Sqle	C	A	15: 59,202,678 (GRCm39)	A512D	probably damaging	Het
Tedc2	A	C	17: 24,435,315 (GRCm39)	L358R	probably damaging	Het
Tfr2	A	G	5: 137,585,268 (GRCm39)	S767G	probably benign	Het
Thoc5	A	G	11: 4,854,133 (GRCm39)	E27G	probably damaging	Het
Trappc8	A	T	18: 21,007,745 (GRCm39)	F123L	probably damaging	Het
Ube3d	C	T	9: 86,254,512 (GRCm39)	G323D	probably benign	Het
Unc13c	T	A	9: 73,485,774 (GRCm39)	H1642L	probably damaging	Het
Vmn1r10	A	T	6: 57,091,302 (GRCm39)	H298L	probably benign	Het
Xpo4	A	T	14: 57,880,956 (GRCm39)	Y26N	probably benign	Het
Zer1	A	G	2: 29,997,679 (GRCm39)	L409P	probably damaging	Het
Zfyve28	A	T	5: 34,382,332 (GRCm39)	L256Q	probably damaging	Het
Zgrf1	A	G	3: 127,355,902 (GRCm39)	E376G	possibly 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
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
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'- CAACTCTGGGCCTGTGTAATG -3'
(R):5'- AGCTTCACCTGAGACAAGGG -3'

Sequencing Primer
(F):5'- CCTGTGTAATGGCGAGCAG -3'
(R):5'- ACAAGGGGTCCTGTTCTGCTC -3'

Posted On

2017-02-28