Incidental Mutation 'IGL03406:Cdcp1'
ID421604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdcp1
Ensembl Gene ENSMUSG00000035498
Gene NameCUB domain containing protein 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03406
Quality Score
Status
Chromosome9
Chromosomal Location123170824-123216038 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123185313 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 132 (H132R)
Ref Sequence ENSEMBL: ENSMUSP00000042057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039229]
Predicted Effect probably benign
Transcript: ENSMUST00000039229
AA Change: H132R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000042057
Gene: ENSMUSG00000035498
AA Change: H132R

DomainStartEndE-ValueType
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik A G 4: 144,423,844 Y56H probably damaging Het
A530016L24Rik T A 12: 112,496,883 probably null Het
Adcy7 C T 8: 88,318,319 R228* probably null Het
Cyp4a32 T C 4: 115,602,303 I78T probably benign Het
Fap A T 2: 62,542,122 probably benign Het
Gad1-ps C T 10: 99,444,779 noncoding transcript Het
Gli3 T C 13: 15,648,581 I296T probably damaging Het
H2-Q2 T C 17: 35,342,825 V97A probably benign Het
Hr T A 14: 70,563,420 probably null Het
Itgax C T 7: 128,149,198 T1133I possibly damaging Het
L3mbtl2 G A 15: 81,681,993 R339H probably damaging Het
Mast4 T C 13: 102,737,107 K1726E possibly damaging Het
Nlrc5 T C 8: 94,476,855 Y528H probably benign Het
Nmnat3 G A 9: 98,399,477 G44D probably damaging Het
Nol8 A T 13: 49,661,568 D366V probably damaging Het
Olfr539 C A 7: 140,667,511 L68M probably damaging Het
Pde4d A T 13: 109,954,591 probably benign Het
Ptpn22 C A 3: 103,912,016 N795K probably benign Het
Rabgap1l A T 1: 160,722,169 V289D probably damaging Het
Slc50a1 T C 3: 89,270,101 D40G possibly damaging Het
Slco6b1 T C 1: 96,947,585 noncoding transcript Het
Smarcad1 T A 6: 65,092,526 F530Y probably damaging Het
Spag6 A G 2: 18,742,873 probably benign Het
Supt16 A T 14: 52,178,141 I379N possibly damaging Het
Tmem154 A G 3: 84,684,260 N39S probably benign Het
Ubash3b T A 9: 41,037,479 Y180F probably damaging Het
Usp48 T A 4: 137,639,295 D921E possibly damaging Het
Zdhhc20 T C 14: 57,839,099 T366A probably benign Het
Zfp456 A T 13: 67,366,331 C419S probably damaging Het
Zfp69 T C 4: 120,931,084 T345A probably benign Het
Other mutations in Cdcp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Cdcp1 APN 9 123180001 nonsense probably null
IGL01883:Cdcp1 APN 9 123183598 missense probably benign 0.18
IGL02029:Cdcp1 APN 9 123183834 splice site probably benign
IGL02115:Cdcp1 APN 9 123185397 missense probably damaging 1.00
IGL02516:Cdcp1 APN 9 123173637 missense possibly damaging 0.86
IGL02709:Cdcp1 APN 9 123173814 missense probably damaging 1.00
IGL03263:Cdcp1 APN 9 123180087 missense probably benign 0.12
R0242:Cdcp1 UTSW 9 123180172 missense probably benign 0.00
R0242:Cdcp1 UTSW 9 123180172 missense probably benign 0.00
R0939:Cdcp1 UTSW 9 123183690 missense probably damaging 1.00
R1411:Cdcp1 UTSW 9 123190112 missense probably damaging 0.99
R1460:Cdcp1 UTSW 9 123180027 missense possibly damaging 0.69
R1538:Cdcp1 UTSW 9 123173588 missense probably damaging 1.00
R1660:Cdcp1 UTSW 9 123185362 missense probably benign 0.09
R1673:Cdcp1 UTSW 9 123178021 nonsense probably null
R1794:Cdcp1 UTSW 9 123190094 missense probably benign 0.37
R1794:Cdcp1 UTSW 9 123215831 missense probably benign
R2472:Cdcp1 UTSW 9 123185107 missense probably benign 0.07
R3961:Cdcp1 UTSW 9 123182381 missense possibly damaging 0.73
R3962:Cdcp1 UTSW 9 123182381 missense possibly damaging 0.73
R4288:Cdcp1 UTSW 9 123183628 missense probably damaging 0.99
R4888:Cdcp1 UTSW 9 123182129 intron probably benign
R4953:Cdcp1 UTSW 9 123180023 missense probably benign 0.00
R5236:Cdcp1 UTSW 9 123185193 missense probably damaging 1.00
R5546:Cdcp1 UTSW 9 123178029 missense probably damaging 1.00
R5848:Cdcp1 UTSW 9 123183705 missense possibly damaging 0.87
R5903:Cdcp1 UTSW 9 123173772 nonsense probably null
R6052:Cdcp1 UTSW 9 123185331 missense probably benign 0.04
R6344:Cdcp1 UTSW 9 123182382 missense possibly damaging 0.69
R6904:Cdcp1 UTSW 9 123173915 missense probably benign
R7038:Cdcp1 UTSW 9 123173597 missense probably damaging 1.00
R7092:Cdcp1 UTSW 9 123183613 missense probably benign 0.20
R7262:Cdcp1 UTSW 9 123173615 missense probably damaging 1.00
R7275:Cdcp1 UTSW 9 123185054 missense possibly damaging 0.79
R7294:Cdcp1 UTSW 9 123177921 missense probably benign 0.01
R7373:Cdcp1 UTSW 9 123177900 missense probably damaging 1.00
R7394:Cdcp1 UTSW 9 123173813 missense probably damaging 1.00
R7527:Cdcp1 UTSW 9 123185107 missense probably benign 0.26
R7674:Cdcp1 UTSW 9 123216006 start gained probably benign
R7680:Cdcp1 UTSW 9 123183519 missense probably damaging 1.00
R8079:Cdcp1 UTSW 9 123173790 missense probably damaging 1.00
R8355:Cdcp1 UTSW 9 123173823 missense probably benign 0.16
R8749:Cdcp1 UTSW 9 123189962 missense probably benign 0.02
R8770:Cdcp1 UTSW 9 123177861 missense possibly damaging 0.73
X0028:Cdcp1 UTSW 9 123185184 missense probably damaging 1.00
Posted On2016-08-02