Incidental Mutation 'IGL02115:Cdcp1'
| ID |
280348 |
| 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 # |
IGL02115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
122999889-123045103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 123014462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 104
(C104F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039229]
|
| AlphaFold |
Q5U462 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039229
AA Change: C104F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: C104F
| 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
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
A |
T |
7: 124,930,781 (GRCm39) |
|
noncoding transcript |
Het |
| Abca7 |
A |
T |
10: 79,833,913 (GRCm39) |
N76Y |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,042,923 (GRCm39) |
K755R |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,108,397 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
T |
C |
4: 68,680,635 (GRCm39) |
T632A |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,722,623 (GRCm39) |
V153I |
possibly damaging |
Het |
| Chd1l |
A |
T |
3: 97,497,220 (GRCm39) |
|
probably null |
Het |
| Ckb |
A |
G |
12: 111,636,415 (GRCm39) |
F271L |
possibly damaging |
Het |
| Col6a3 |
T |
A |
1: 90,735,373 (GRCm39) |
I759L |
probably damaging |
Het |
| Ddr2 |
A |
T |
1: 169,822,278 (GRCm39) |
M390K |
probably benign |
Het |
| Dhx8 |
C |
T |
11: 101,643,214 (GRCm39) |
P762L |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,628,277 (GRCm39) |
V1449E |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,768,848 (GRCm39) |
I629M |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,019 (GRCm39) |
I1692T |
unknown |
Het |
| Ercc6 |
T |
A |
14: 32,298,950 (GRCm39) |
L1446Q |
probably damaging |
Het |
| Gm10092 |
T |
C |
16: 35,957,993 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6900 |
A |
T |
7: 10,390,503 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr149 |
T |
C |
3: 62,502,336 (GRCm39) |
T507A |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,506,479 (GRCm39) |
D3776V |
probably damaging |
Het |
| Irgm2 |
A |
G |
11: 58,110,948 (GRCm39) |
E225G |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,424,305 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,594,459 (GRCm39) |
V196A |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,023,247 (GRCm39) |
S178G |
possibly damaging |
Het |
| Lzts2 |
A |
G |
19: 45,014,809 (GRCm39) |
|
probably benign |
Het |
| Mcoln3 |
C |
T |
3: 145,843,056 (GRCm39) |
S380L |
probably damaging |
Het |
| Med12l |
A |
T |
3: 58,975,740 (GRCm39) |
T223S |
probably benign |
Het |
| Mrpl54 |
A |
G |
10: 81,101,483 (GRCm39) |
|
probably null |
Het |
| Myo1c |
A |
T |
11: 75,552,417 (GRCm39) |
I397F |
probably damaging |
Het |
| Nbas |
A |
T |
12: 13,367,693 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,223,041 (GRCm39) |
H1195Y |
probably damaging |
Het |
| Nol3 |
A |
G |
8: 106,006,263 (GRCm39) |
M171V |
probably benign |
Het |
| Or2l5 |
A |
T |
16: 19,333,853 (GRCm39) |
C178S |
probably damaging |
Het |
| Or52s1 |
A |
G |
7: 102,861,681 (GRCm39) |
T194A |
probably damaging |
Het |
| Pdpr |
C |
T |
8: 111,830,630 (GRCm39) |
L107F |
probably damaging |
Het |
| Ppfibp2 |
G |
A |
7: 107,338,525 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
C |
4: 43,426,136 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
G |
T |
11: 113,725,639 (GRCm39) |
|
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,868,183 (GRCm39) |
C539R |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,029,208 (GRCm39) |
C524R |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Slc15a1 |
A |
T |
14: 121,718,073 (GRCm39) |
Y269N |
possibly damaging |
Het |
| Synj2 |
T |
A |
17: 6,067,865 (GRCm39) |
Y113N |
probably damaging |
Het |
| Tm6sf1 |
A |
T |
7: 81,525,551 (GRCm39) |
Y172F |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,763,090 (GRCm39) |
D773G |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,283,491 (GRCm39) |
|
probably benign |
Het |
| Tut1 |
C |
T |
19: 8,942,676 (GRCm39) |
R588W |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 102,964,933 (GRCm39) |
Y74F |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,741,039 (GRCm39) |
I737K |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,800,787 (GRCm39) |
M383K |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,159,708 (GRCm39) |
D426G |
unknown |
Het |
| Zfp622 |
A |
G |
15: 25,987,286 (GRCm39) |
N308S |
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 |
|
|
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 |
|
IGL03263:Cdcp1
|
APN |
9 |
123,009,152 (GRCm39) |
missense |
probably benign |
0.12 |
|
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 |
2015-04-16 |
Incidental Mutation