Mutagenetix > Incidental Mutation

Incidental Mutation 'R5372:Scube3'

428828

Institutional Source

Beutler Lab

Gene Symbol

Scube3

Ensembl Gene

ENSMUSG00000038677

Gene Name

signal peptide, CUB domain, EGF-like 3

Synonyms

D030038I21Rik

MMRRC Submission

042948-MU

Accession Numbers

Essential gene?

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

Stock #

R5372 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

28361115-28393828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28371456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 57 (C57F)

Ref Sequence

ENSEMBL: ENSMUSP00000038366 (fasta)

Gene Model

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

AlphaFold

Q66PY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000043503
AA Change: C57F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038366
Gene: ENSMUSG00000038677
AA Change: C57F

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

probably benign
Transcript: ENSMUST00000132670

SMART Domains

Protein: ENSMUSP00000117490
Gene: ENSMUSG00000038677

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

Meta Mutation Damage Score

0.9703

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (89/93)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,848,988 (GRCm39)	D108E	probably damaging	Het
Abhd12b	A	G	12: 70,227,800 (GRCm39)	D194G	probably damaging	Het
Adck5	A	G	15: 76,478,707 (GRCm39)		probably benign	Het
Adgrb3	C	T	1: 25,167,940 (GRCm39)	V792I	probably benign	Het
Anxa8	G	A	14: 33,815,868 (GRCm39)	V174M	probably damaging	Het
Apol9b	A	T	15: 77,619,920 (GRCm39)	R239W	probably benign	Het
Arhgap26	A	G	18: 38,775,509 (GRCm39)		noncoding transcript	Het
Atrnl1	A	G	19: 57,743,968 (GRCm39)	Y1190C	probably benign	Het
Brinp3	T	G	1: 146,707,464 (GRCm39)	L376R	probably damaging	Het
Btbd2	A	T	10: 80,484,475 (GRCm39)	M132K	probably damaging	Het
C130073F10Rik	A	T	4: 101,747,684 (GRCm39)	I115K	probably damaging	Het
C1ra	T	A	6: 124,498,584 (GRCm39)	Y426N	probably damaging	Het
Cacna1b	A	T	2: 24,623,971 (GRCm39)	V203E	probably damaging	Het
Catsperg1	T	A	7: 28,910,137 (GRCm39)	D68V	probably benign	Het
Ccdc158	A	C	5: 92,780,419 (GRCm39)	S885A	possibly damaging	Het
Cdc42bpa	T	C	1: 179,892,544 (GRCm39)	V236A	probably damaging	Het
Cdca7	A	T	2: 72,312,793 (GRCm39)	E176D	probably damaging	Het
Cdk17	A	G	10: 93,061,901 (GRCm39)	D211G	probably benign	Het
Clca3a2	A	C	3: 144,503,286 (GRCm39)	M888R	probably benign	Het
Clcn7	T	A	17: 25,376,153 (GRCm39)	M568K	possibly damaging	Het
Clip1	G	T	5: 123,768,303 (GRCm39)	N811K	probably benign	Het
Col12a1	T	A	9: 79,585,648 (GRCm39)	Y1243F	probably damaging	Het
Dctn1	T	A	6: 83,167,192 (GRCm39)	D315E	probably damaging	Het
Dgcr2	T	C	16: 17,690,508 (GRCm39)	T41A	probably benign	Het
Dync2h1	G	A	9: 7,176,962 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,521,031 (GRCm39)	I1264V	unknown	Het
Fam167b	A	T	4: 129,472,092 (GRCm39)	L26Q	possibly damaging	Het
Fam178b	T	A	1: 36,603,929 (GRCm39)	I457F	possibly damaging	Het
Fgd4	A	T	16: 16,302,155 (GRCm39)	N133K	probably benign	Het
Fndc1	C	G	17: 7,984,042 (GRCm39)	V1295L	unknown	Het
Gad2	A	T	2: 22,580,255 (GRCm39)	D552V	possibly damaging	Het
Hars2	T	C	18: 36,923,534 (GRCm39)	Y361H	possibly damaging	Het
Heca	T	A	10: 17,790,887 (GRCm39)	S390C	probably damaging	Het
Hephl1	G	T	9: 15,009,195 (GRCm39)	Y132*	probably null	Het
Hormad1	T	A	3: 95,483,735 (GRCm39)	D182E	probably damaging	Het
Ifna15	G	A	4: 88,476,338 (GRCm39)	P49S	probably damaging	Het
Khsrp	T	C	17: 57,331,292 (GRCm39)	T429A	possibly damaging	Het
Magi2	A	G	5: 20,907,108 (GRCm39)	Q1094R	possibly damaging	Het
Map3k11	T	A	19: 5,740,990 (GRCm39)	I239K	probably damaging	Het
Mtus2	A	G	5: 148,250,222 (GRCm39)	T1319A	probably damaging	Het
Nup54	A	G	5: 92,565,716 (GRCm39)	I406T	probably damaging	Het
Nxpe2	T	C	9: 48,250,819 (GRCm39)	T43A	possibly damaging	Het
Nynrin	A	G	14: 56,105,948 (GRCm39)	E889G	probably benign	Het
Opa1	A	C	16: 29,404,937 (GRCm39)	H45P	probably benign	Het
Or14c44	T	A	7: 86,062,176 (GRCm39)	I202N	possibly damaging	Het
Or4f60	A	G	2: 111,902,454 (GRCm39)	I158T	probably benign	Het
Or56b2j	A	G	7: 104,353,002 (GRCm39)	D76G	probably benign	Het
Or8a1b	T	C	9: 37,623,234 (GRCm39)	M114V	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Papola	A	G	12: 105,793,309 (GRCm39)	K543R	probably benign	Het
Plcxd3	G	A	15: 4,604,270 (GRCm39)	V293I	probably benign	Het
Polr2g	T	C	19: 8,774,667 (GRCm39)	Y72C	probably damaging	Het
Ppp1r21	A	G	17: 88,858,103 (GRCm39)	K205E	probably benign	Het
Ptpre	A	G	7: 135,255,669 (GRCm39)	K53E	possibly damaging	Het
Rasal3	T	C	17: 32,610,318 (GRCm39)	K990E	probably benign	Het
Rgs3	A	T	4: 62,570,934 (GRCm39)		probably benign	Het
Rhd	A	G	4: 134,611,943 (GRCm39)	T254A	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sh2d5	A	G	4: 137,982,010 (GRCm39)	D57G	possibly damaging	Het
Slc12a6	T	A	2: 112,177,705 (GRCm39)	L608*	probably null	Het
Slk	A	T	19: 47,613,832 (GRCm39)	N896I	probably damaging	Het
Smc6	A	G	12: 11,332,431 (GRCm39)	D211G	probably damaging	Het
Sox6	A	T	7: 115,149,386 (GRCm39)	Y371*	probably null	Het
Srcap	G	A	7: 127,156,785 (GRCm39)		probably null	Het
Stard5	T	A	7: 83,282,428 (GRCm39)	D80E	probably damaging	Het
Supv3l1	C	T	10: 62,268,136 (GRCm39)	V570M	probably damaging	Het
Syt7	G	T	19: 10,403,985 (GRCm39)	V180L	probably damaging	Het
Tacc2	T	A	7: 130,224,990 (GRCm39)	H558Q	probably benign	Het
Tas2r120	T	A	6: 132,634,446 (GRCm39)	M176K	possibly damaging	Het
Tmem135	A	T	7: 88,814,382 (GRCm39)		probably null	Het
Trim35	T	C	14: 66,534,715 (GRCm39)	V66A	possibly damaging	Het
Tspan12	A	G	6: 21,772,698 (GRCm39)	S284P	probably benign	Het
Ttll3	A	T	6: 113,378,382 (GRCm39)	K257*	probably null	Het
Uggt1	C	A	1: 36,283,141 (GRCm39)		probably benign	Het
Vmn2r7	T	A	3: 64,623,745 (GRCm39)	I283F	probably damaging	Het
Wdfy2	T	G	14: 63,192,334 (GRCm39)	H363Q	probably damaging	Het
Wdr4	T	A	17: 31,729,554 (GRCm39)	K95N	probably damaging	Het
Zfp141	T	C	7: 42,126,620 (GRCm39)	N91S	possibly damaging	Het
Zfp383	C	T	7: 29,614,695 (GRCm39)	R317*	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
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
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'- GCATGGGCATACAGAGACAC -3'
(R):5'- CAGTCTCACCTTTGCAGTGG -3'

Sequencing Primer
(F):5'- AGAGACACTGCCCCTGG -3'
(R):5'- TCACCTTTGCAGTGGAGAC -3'

Posted On

2016-09-06