Incidental Mutation 'R4392:Scube3'
| ID |
326440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scube3
|
| Ensembl Gene |
ENSMUSG00000038677 |
| Gene Name |
signal peptide, CUB domain, EGF-like 3 |
| Synonyms |
D030038I21Rik |
| MMRRC Submission |
041127-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.403)
|
| Stock # |
R4392 (G1)
|
| Quality Score |
122 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28361115-28393828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28383762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 511
(P511L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043503]
|
| AlphaFold |
Q66PY1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043503
AA Change: P511L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038366
Gene: ENSMUSG00000038677
AA Change: P511L
| 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 null
Transcript: ENSMUST00000132670
AA Change: P427L
|
| SMART Domains |
Protein: ENSMUSP00000117490
Gene: ENSMUSG00000038677
AA Change: P427L
| 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 |
0.1088 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
95% (69/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
C |
T |
14: 54,822,435 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
C |
11: 9,259,034 (GRCm39) |
K2920T |
possibly damaging |
Het |
| Amy2b |
T |
G |
3: 113,056,724 (GRCm39) |
|
noncoding transcript |
Het |
| Anapc1 |
T |
C |
2: 128,518,169 (GRCm39) |
|
probably null |
Het |
| Bmp7 |
T |
G |
2: 172,758,335 (GRCm39) |
D178A |
probably benign |
Het |
| Brsk1 |
T |
A |
7: 4,701,749 (GRCm39) |
I170N |
probably damaging |
Het |
| Bub3 |
C |
T |
7: 131,168,064 (GRCm39) |
A187V |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,277,479 (GRCm39) |
H71R |
possibly damaging |
Het |
| Cdrt4 |
A |
T |
11: 62,842,179 (GRCm39) |
K20N |
probably benign |
Het |
| Clec12a |
A |
T |
6: 129,330,427 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,569,770 (GRCm39) |
Y1600F |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,728,700 (GRCm39) |
I57N |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,059,917 (GRCm39) |
L223P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,289,375 (GRCm39) |
R1188H |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,385,196 (GRCm39) |
|
probably benign |
Het |
| Efcab5 |
T |
A |
11: 76,981,284 (GRCm39) |
N1354I |
probably damaging |
Het |
| Eif4b |
T |
A |
15: 101,995,076 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
A |
G |
11: 30,893,697 (GRCm39) |
|
probably null |
Het |
| Esp24 |
T |
C |
17: 39,350,968 (GRCm39) |
|
probably benign |
Het |
| Esp34 |
T |
C |
17: 38,870,382 (GRCm39) |
V24A |
possibly damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,397,300 (GRCm39) |
|
probably benign |
Het |
| Foxc2 |
T |
C |
8: 121,844,191 (GRCm39) |
S280P |
probably damaging |
Het |
| Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,068,002 (GRCm39) |
F467S |
probably damaging |
Het |
| Grwd1 |
C |
T |
7: 45,477,204 (GRCm39) |
G228S |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,289,483 (GRCm39) |
E399G |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Ift56 |
A |
G |
6: 38,358,492 (GRCm39) |
|
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,585,880 (GRCm39) |
Y83H |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,069,630 (GRCm39) |
T413A |
probably damaging |
Het |
| Mideas |
A |
T |
12: 84,219,885 (GRCm39) |
D356E |
probably benign |
Het |
| Mmrn2 |
T |
A |
14: 34,119,573 (GRCm39) |
L184H |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,187,311 (GRCm39) |
R133C |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,235,707 (GRCm39) |
|
probably null |
Het |
| Nkain3 |
C |
A |
4: 20,282,985 (GRCm39) |
R116L |
possibly damaging |
Het |
| Nxph2 |
A |
C |
2: 23,290,284 (GRCm39) |
Q212P |
probably damaging |
Het |
| Or4f7d-ps1 |
T |
C |
2: 111,674,690 (GRCm39) |
|
noncoding transcript |
Het |
| Or4k15c |
A |
G |
14: 50,322,060 (GRCm39) |
F26S |
probably benign |
Het |
| Otog |
T |
C |
7: 45,934,548 (GRCm39) |
Y1369H |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,248,334 (GRCm39) |
I131V |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,142,467 (GRCm38) |
I373F |
possibly damaging |
Het |
| Rad18 |
A |
T |
6: 112,670,490 (GRCm39) |
C25S |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,189,655 (GRCm39) |
T678A |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,765,399 (GRCm39) |
E557V |
probably damaging |
Het |
| Sgpl1 |
A |
G |
10: 60,940,231 (GRCm39) |
|
probably benign |
Het |
| Slc10a1 |
C |
A |
12: 81,014,578 (GRCm39) |
E47D |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,117,896 (GRCm39) |
N369S |
probably damaging |
Het |
| Sstr5 |
T |
C |
17: 25,710,198 (GRCm39) |
T344A |
probably benign |
Het |
| Tgm4 |
C |
T |
9: 122,895,817 (GRCm39) |
T631I |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,821,326 (GRCm39) |
Y457H |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,637,429 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,690,458 (GRCm39) |
W207R |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Usp2 |
A |
T |
9: 44,002,556 (GRCm39) |
H384L |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,207,135 (GRCm39) |
V169I |
probably benign |
Het |
| Vopp1 |
A |
C |
6: 57,739,461 (GRCm39) |
F29C |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,741,860 (GRCm39) |
D953G |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,707 (GRCm39) |
C419* |
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 |
|
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'- AACCTTACTGCTGAGCTCGG -3'
(R):5'- TTCCACTGAAGACAAGTTCTCTC -3'
Sequencing Primer
(F):5'- TGCTGAGCTCGGAGCCAC -3'
(R):5'- ACTGAAGACAAGTTCTCTCTTCTGAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation