Incidental Mutation 'IGL02709:Reck'
ID 304483
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Reck
Ensembl Gene ENSMUSG00000028476
Gene Name reversion-inducing-cysteine-rich protein with kazal motifs
Synonyms St15
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02709
Quality Score
Status
Chromosome 4
Chromosomal Location 43875530-43944806 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43913791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 215 (Y215C)
Ref Sequence ENSEMBL: ENSMUSP00000030198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030198]
AlphaFold Q9Z0J1
Predicted Effect probably damaging
Transcript: ENSMUST00000030198
AA Change: Y215C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: Y215C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
KAZAL 632 671 1.18e-2 SMART
KAZAL 708 750 1.46e-2 SMART
KAZAL 753 787 4.26e-2 SMART
low complexity region 877 890 N/A INTRINSIC
low complexity region 927 946 N/A INTRINSIC
low complexity region 950 967 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128463
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in lethality around E10.5-E11.5, defects in collagen fibrils, basal lamina and vascular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,654,619 (GRCm39) Y151C probably damaging Het
Aco1 G A 4: 40,180,199 (GRCm39) V367M possibly damaging Het
Acsm5 G A 7: 119,134,041 (GRCm39) W274* probably null Het
Ago1 G A 4: 126,347,433 (GRCm39) Q135* probably null Het
Bmpr1b A T 3: 141,562,314 (GRCm39) L291Q probably damaging Het
Cdcp1 A G 9: 123,002,879 (GRCm39) Y731H probably damaging Het
Clrn2 A G 5: 45,617,495 (GRCm39) N122S probably damaging Het
Col4a3 G T 1: 82,656,833 (GRCm39) G751W unknown Het
Ctsc C T 7: 87,957,347 (GRCm39) A294V probably damaging Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Dennd6b A T 15: 89,075,125 (GRCm39) probably benign Het
Dnah10 T A 5: 124,850,809 (GRCm39) Y1659* probably null Het
Dspp A C 5: 104,325,116 (GRCm39) D493A unknown Het
Dyrk1a C T 16: 94,486,102 (GRCm39) A445V probably benign Het
E030025P04Rik C A 11: 109,030,324 (GRCm39) probably benign Het
Ecpas A G 4: 58,872,699 (GRCm39) S201P possibly damaging Het
Foxd4 T C 19: 24,876,973 (GRCm39) H409R probably damaging Het
Fubp3 A G 2: 31,485,343 (GRCm39) probably benign Het
Herc1 A G 9: 66,404,962 (GRCm39) K4511E probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map1lc3b T A 8: 122,322,768 (GRCm39) L82Q probably damaging Het
Mcc A T 18: 44,578,877 (GRCm39) S844T possibly damaging Het
Mccc1 A T 3: 36,044,888 (GRCm39) *85K probably null Het
Memo1 G A 17: 74,552,027 (GRCm39) L90F probably damaging Het
Mfrp A G 9: 44,014,561 (GRCm39) H236R probably benign Het
Mmrn1 G A 6: 60,950,030 (GRCm39) D327N probably damaging Het
Mycbp2 T C 14: 103,392,697 (GRCm39) E3178G probably damaging Het
Pcsk9 A G 4: 106,304,886 (GRCm39) probably benign Het
Pros1 T C 16: 62,719,308 (GRCm39) L110P probably damaging Het
Ripk4 T C 16: 97,544,766 (GRCm39) D627G probably damaging Het
Rnf144a G T 12: 26,371,009 (GRCm39) H151N probably damaging Het
Slc39a9 T A 12: 80,713,421 (GRCm39) H106Q probably damaging Het
Stab2 A G 10: 86,682,029 (GRCm39) probably benign Het
Sympk T G 7: 18,781,463 (GRCm39) H806Q probably benign Het
Tars2 C A 3: 95,649,383 (GRCm39) probably benign Het
Thap3 T A 4: 152,070,169 (GRCm39) H75L probably damaging Het
Trappc8 T C 18: 20,970,235 (GRCm39) I918M possibly damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Ubqln3 T G 7: 103,790,543 (GRCm39) T516P probably benign Het
Unc13c A G 9: 73,466,238 (GRCm39) S1810P probably benign Het
Vmn1r4 T A 6: 56,933,524 (GRCm39) Y9* probably null Het
Vmn1r89 T A 7: 12,954,131 (GRCm39) M221K probably damaging Het
Vmn2r1 G T 3: 64,012,355 (GRCm39) V739F probably benign Het
Vmn2r25 C T 6: 123,816,723 (GRCm39) R286Q possibly damaging Het
Vmn2r91 T A 17: 18,325,711 (GRCm39) Y110N possibly damaging Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Other mutations in Reck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Reck APN 4 43,940,662 (GRCm39) missense probably damaging 1.00
IGL01569:Reck APN 4 43,925,172 (GRCm39) missense probably benign 0.00
IGL02341:Reck APN 4 43,925,160 (GRCm39) missense probably damaging 0.97
IGL02637:Reck APN 4 43,898,009 (GRCm39) missense probably damaging 0.97
IGL02829:Reck APN 4 43,891,014 (GRCm39) missense probably damaging 0.96
IGL02928:Reck APN 4 43,912,078 (GRCm39) missense possibly damaging 0.47
IGL03132:Reck APN 4 43,938,898 (GRCm39) nonsense probably null
PIT4453001:Reck UTSW 4 43,895,850 (GRCm39) missense probably benign 0.00
R0066:Reck UTSW 4 43,930,936 (GRCm39) missense probably damaging 0.97
R0066:Reck UTSW 4 43,930,936 (GRCm39) missense probably damaging 0.97
R0607:Reck UTSW 4 43,940,719 (GRCm39) missense probably benign 0.01
R0626:Reck UTSW 4 43,930,295 (GRCm39) missense probably benign 0.00
R0894:Reck UTSW 4 43,922,967 (GRCm39) missense probably damaging 1.00
R0932:Reck UTSW 4 43,922,838 (GRCm39) missense possibly damaging 0.95
R1564:Reck UTSW 4 43,912,061 (GRCm39) missense probably benign 0.00
R1633:Reck UTSW 4 43,922,964 (GRCm39) missense possibly damaging 0.89
R1772:Reck UTSW 4 43,890,982 (GRCm39) missense probably benign 0.00
R1968:Reck UTSW 4 43,913,771 (GRCm39) splice site probably null
R2105:Reck UTSW 4 43,943,195 (GRCm39) missense probably damaging 0.99
R2225:Reck UTSW 4 43,922,837 (GRCm39) missense probably benign 0.01
R2302:Reck UTSW 4 43,931,015 (GRCm39) missense probably benign 0.28
R2430:Reck UTSW 4 43,930,202 (GRCm39) missense possibly damaging 0.88
R2655:Reck UTSW 4 43,938,966 (GRCm39) missense probably benign 0.01
R3858:Reck UTSW 4 43,930,261 (GRCm39) missense probably benign 0.13
R4027:Reck UTSW 4 43,922,931 (GRCm39) missense probably damaging 1.00
R4028:Reck UTSW 4 43,922,931 (GRCm39) missense probably damaging 1.00
R4029:Reck UTSW 4 43,922,931 (GRCm39) missense probably damaging 1.00
R4080:Reck UTSW 4 43,942,293 (GRCm39) missense possibly damaging 0.95
R4497:Reck UTSW 4 43,891,001 (GRCm39) missense probably benign
R4583:Reck UTSW 4 43,931,062 (GRCm39) critical splice donor site probably null
R4702:Reck UTSW 4 43,898,060 (GRCm39) missense probably damaging 1.00
R5934:Reck UTSW 4 43,930,979 (GRCm39) missense probably damaging 1.00
R6114:Reck UTSW 4 43,922,895 (GRCm39) missense probably damaging 1.00
R6235:Reck UTSW 4 43,937,450 (GRCm39) missense probably damaging 1.00
R7895:Reck UTSW 4 43,890,970 (GRCm39) missense probably benign 0.00
R7903:Reck UTSW 4 43,927,166 (GRCm39) missense possibly damaging 0.49
R8047:Reck UTSW 4 43,927,221 (GRCm39) missense probably damaging 1.00
R8477:Reck UTSW 4 43,891,011 (GRCm39) missense probably benign 0.00
R8853:Reck UTSW 4 43,912,089 (GRCm39) missense probably benign 0.15
R8912:Reck UTSW 4 43,938,802 (GRCm39) intron probably benign
R9084:Reck UTSW 4 43,922,809 (GRCm39) splice site probably benign
R9342:Reck UTSW 4 43,943,301 (GRCm39) missense probably benign 0.04
R9553:Reck UTSW 4 43,928,310 (GRCm39) missense probably damaging 1.00
X0062:Reck UTSW 4 43,922,921 (GRCm39) missense probably damaging 1.00
X0067:Reck UTSW 4 43,914,016 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16