Incidental Mutation 'IGL03263:Cdcp1'
ID |
414965 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdcp1
|
Ensembl Gene |
ENSMUSG00000035498 |
Gene Name |
CUB domain containing protein 1 |
Synonyms |
E030027H19Rik, 9030022E12Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03263
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
122999889-123045103 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 123009152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 509
(V509L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039229]
|
AlphaFold |
Q5U462 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039229
AA Change: V509L
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000042057 Gene: ENSMUSG00000035498 AA Change: V509L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
internal_repeat_1
|
56 |
267 |
1.33e-11 |
PROSPERO |
internal_repeat_1
|
374 |
591 |
1.33e-11 |
PROSPERO |
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
low complexity region
|
770 |
782 |
N/A |
INTRINSIC |
low complexity region
|
792 |
802 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148158
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
A |
5: 138,562,499 (GRCm39) |
I81F |
probably damaging |
Het |
Acacb |
C |
T |
5: 114,351,754 (GRCm39) |
H1164Y |
probably damaging |
Het |
Adamts5 |
A |
T |
16: 85,666,830 (GRCm39) |
V554E |
probably damaging |
Het |
Asns |
G |
A |
6: 7,689,404 (GRCm39) |
R33C |
probably benign |
Het |
BC051076 |
T |
G |
5: 88,111,977 (GRCm39) |
|
noncoding transcript |
Het |
Bcas3 |
C |
T |
11: 85,712,948 (GRCm39) |
|
probably benign |
Het |
Bpifb1 |
A |
G |
2: 154,057,226 (GRCm39) |
M395V |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,865,926 (GRCm39) |
T277A |
possibly damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Clca4a |
T |
A |
3: 144,672,192 (GRCm39) |
E250V |
probably damaging |
Het |
Cplx4 |
T |
C |
18: 66,100,559 (GRCm39) |
D79G |
probably benign |
Het |
Dcaf11 |
A |
G |
14: 55,802,949 (GRCm39) |
D246G |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,420,207 (GRCm39) |
|
probably null |
Het |
Dock3 |
A |
T |
9: 106,807,330 (GRCm39) |
|
probably benign |
Het |
Fam170a |
T |
C |
18: 50,413,588 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
T |
A |
7: 129,782,149 (GRCm39) |
M423L |
probably benign |
Het |
Gabra2 |
A |
G |
5: 71,130,836 (GRCm39) |
F331L |
probably damaging |
Het |
Galnt18 |
C |
T |
7: 111,119,321 (GRCm39) |
R400Q |
probably damaging |
Het |
H2-M11 |
A |
T |
17: 36,859,805 (GRCm39) |
Q266L |
probably damaging |
Het |
Igf2bp1 |
A |
T |
11: 95,857,499 (GRCm39) |
V502D |
probably damaging |
Het |
Ik |
A |
G |
18: 36,881,699 (GRCm39) |
N111S |
probably damaging |
Het |
Intu |
T |
A |
3: 40,627,027 (GRCm39) |
Y269* |
probably null |
Het |
Krt82 |
T |
C |
15: 101,450,307 (GRCm39) |
Y463C |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,588,628 (GRCm39) |
M507T |
probably benign |
Het |
Lrrc37 |
A |
G |
11: 103,504,525 (GRCm39) |
V2481A |
possibly damaging |
Het |
Mag |
T |
G |
7: 30,598,953 (GRCm39) |
|
probably null |
Het |
Map7 |
T |
A |
10: 20,121,068 (GRCm39) |
Y121* |
probably null |
Het |
Marchf6 |
A |
G |
15: 31,486,508 (GRCm39) |
I349T |
probably benign |
Het |
Mas1 |
A |
G |
17: 13,060,451 (GRCm39) |
V324A |
possibly damaging |
Het |
Nckap1l |
T |
C |
15: 103,372,832 (GRCm39) |
W259R |
probably damaging |
Het |
Nhsl1 |
T |
A |
10: 18,373,827 (GRCm39) |
Y164* |
probably null |
Het |
Or52e5 |
T |
A |
7: 104,719,209 (GRCm39) |
H178Q |
probably damaging |
Het |
Or8b38 |
A |
T |
9: 37,973,009 (GRCm39) |
Y131F |
probably damaging |
Het |
Pcdhb2 |
A |
G |
18: 37,429,059 (GRCm39) |
D344G |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,731,824 (GRCm39) |
V3442A |
unknown |
Het |
Polr3c |
C |
T |
3: 96,621,567 (GRCm39) |
|
probably benign |
Het |
Ppp2r2d |
C |
T |
7: 138,474,651 (GRCm39) |
R11* |
probably null |
Het |
Ptgfr |
T |
A |
3: 151,541,500 (GRCm39) |
M3L |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,601,903 (GRCm39) |
S741G |
probably benign |
Het |
Rif1 |
T |
C |
2: 51,980,273 (GRCm39) |
V490A |
probably damaging |
Het |
Samd7 |
T |
A |
3: 30,816,302 (GRCm39) |
H349Q |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,302,482 (GRCm39) |
N199S |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,667,305 (GRCm39) |
K794N |
possibly damaging |
Het |
Spta1 |
C |
T |
1: 174,041,484 (GRCm39) |
A1316V |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,240,575 (GRCm39) |
E410G |
probably benign |
Het |
Washc2 |
T |
A |
6: 116,215,084 (GRCm39) |
|
probably benign |
Het |
Wdr72 |
A |
C |
9: 74,064,711 (GRCm39) |
Y581S |
probably damaging |
Het |
Zdhhc17 |
T |
C |
10: 110,796,877 (GRCm39) |
D298G |
probably damaging |
Het |
|
Other mutations in Cdcp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01757:Cdcp1
|
APN |
9 |
123,009,066 (GRCm39) |
nonsense |
probably null |
|
IGL01883:Cdcp1
|
APN |
9 |
123,012,663 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02029:Cdcp1
|
APN |
9 |
123,012,899 (GRCm39) |
splice site |
probably benign |
|
IGL02115:Cdcp1
|
APN |
9 |
123,014,462 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02516:Cdcp1
|
APN |
9 |
123,002,702 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02709:Cdcp1
|
APN |
9 |
123,002,879 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03406:Cdcp1
|
APN |
9 |
123,014,378 (GRCm39) |
missense |
probably benign |
0.00 |
R0242:Cdcp1
|
UTSW |
9 |
123,009,237 (GRCm39) |
missense |
probably benign |
0.00 |
R0242:Cdcp1
|
UTSW |
9 |
123,009,237 (GRCm39) |
missense |
probably benign |
0.00 |
R0939:Cdcp1
|
UTSW |
9 |
123,012,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R1411:Cdcp1
|
UTSW |
9 |
123,019,177 (GRCm39) |
missense |
probably damaging |
0.99 |
R1460:Cdcp1
|
UTSW |
9 |
123,009,092 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1538:Cdcp1
|
UTSW |
9 |
123,002,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R1660:Cdcp1
|
UTSW |
9 |
123,014,427 (GRCm39) |
missense |
probably benign |
0.09 |
R1673:Cdcp1
|
UTSW |
9 |
123,007,086 (GRCm39) |
nonsense |
probably null |
|
R1794:Cdcp1
|
UTSW |
9 |
123,044,896 (GRCm39) |
missense |
probably benign |
|
R1794:Cdcp1
|
UTSW |
9 |
123,019,159 (GRCm39) |
missense |
probably benign |
0.37 |
R2472:Cdcp1
|
UTSW |
9 |
123,014,172 (GRCm39) |
missense |
probably benign |
0.07 |
R3961:Cdcp1
|
UTSW |
9 |
123,011,446 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3962:Cdcp1
|
UTSW |
9 |
123,011,446 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4288:Cdcp1
|
UTSW |
9 |
123,012,693 (GRCm39) |
missense |
probably damaging |
0.99 |
R4888:Cdcp1
|
UTSW |
9 |
123,011,194 (GRCm39) |
intron |
probably benign |
|
R4953:Cdcp1
|
UTSW |
9 |
123,009,088 (GRCm39) |
missense |
probably benign |
0.00 |
R5236:Cdcp1
|
UTSW |
9 |
123,014,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R5546:Cdcp1
|
UTSW |
9 |
123,007,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R5848:Cdcp1
|
UTSW |
9 |
123,012,770 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5903:Cdcp1
|
UTSW |
9 |
123,002,837 (GRCm39) |
nonsense |
probably null |
|
R6052:Cdcp1
|
UTSW |
9 |
123,014,396 (GRCm39) |
missense |
probably benign |
0.04 |
R6344:Cdcp1
|
UTSW |
9 |
123,011,447 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6904:Cdcp1
|
UTSW |
9 |
123,002,980 (GRCm39) |
missense |
probably benign |
|
R7038:Cdcp1
|
UTSW |
9 |
123,002,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R7092:Cdcp1
|
UTSW |
9 |
123,012,678 (GRCm39) |
missense |
probably benign |
0.20 |
R7262:Cdcp1
|
UTSW |
9 |
123,002,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Cdcp1
|
UTSW |
9 |
123,014,119 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7294:Cdcp1
|
UTSW |
9 |
123,006,986 (GRCm39) |
missense |
probably benign |
0.01 |
R7373:Cdcp1
|
UTSW |
9 |
123,006,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R7394:Cdcp1
|
UTSW |
9 |
123,002,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R7527:Cdcp1
|
UTSW |
9 |
123,014,172 (GRCm39) |
missense |
probably benign |
0.26 |
R7674:Cdcp1
|
UTSW |
9 |
123,045,071 (GRCm39) |
start gained |
probably benign |
|
R7680:Cdcp1
|
UTSW |
9 |
123,012,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R8079:Cdcp1
|
UTSW |
9 |
123,002,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R8355:Cdcp1
|
UTSW |
9 |
123,002,888 (GRCm39) |
missense |
probably benign |
0.16 |
R8749:Cdcp1
|
UTSW |
9 |
123,019,027 (GRCm39) |
missense |
probably benign |
0.02 |
R8770:Cdcp1
|
UTSW |
9 |
123,006,926 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8964:Cdcp1
|
UTSW |
9 |
123,012,561 (GRCm39) |
nonsense |
probably null |
|
R9241:Cdcp1
|
UTSW |
9 |
123,014,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R9520:Cdcp1
|
UTSW |
9 |
123,012,736 (GRCm39) |
missense |
possibly damaging |
0.87 |
X0028:Cdcp1
|
UTSW |
9 |
123,014,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |