Incidental Mutation 'IGL03095:Pros1'
ID418530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pros1
Ensembl Gene ENSMUSG00000022912
Gene Nameprotein S (alpha)
Synonymsprotein S
Accession Numbers

Genbank: NM_011173; MGI: 1095733  

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03095
Quality Score
Status
Chromosome16
Chromosomal Location62854307-62929346 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 62907769 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 279 (Q279*)
Ref Sequence ENSEMBL: ENSMUSP00000023629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023629]
Predicted Effect probably null
Transcript: ENSMUST00000023629
AA Change: Q279*
SMART Domains Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: Q279*

DomainStartEndE-ValueType
GLA 23 86 3.63e-31 SMART
EGF 120 155 4.39e-2 SMART
EGF_CA 157 200 6.91e-9 SMART
EGF_CA 201 242 5.23e-9 SMART
EGF_CA 243 283 1.1e-7 SMART
LamG 321 458 8.55e-22 SMART
LamG 506 646 1.57e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a vitamin K-dependent protein with key roles in multiple biological processes including coagulation, apoptosis and vasculogenesis. The encoded protein undergoes proteolytic processing to generate a mature protein which is secreted into the plasma. Mice lacking the encoded protein die in utero from a fulminant coagulopathy and associated hemorrhages. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with thrombosis, hemorrhage, and thrombocytopenia. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(2)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bche A G 3: 73,701,883 L70P probably damaging Het
Cacna1h C A 17: 25,383,778 probably benign Het
Ccdc60 A T 5: 116,146,215 probably benign Het
Cep152 T C 2: 125,618,451 N194D probably benign Het
Chodl T A 16: 78,941,433 D96E probably damaging Het
Clca3b C A 3: 144,846,910 G122* probably null Het
Crybg1 T C 10: 43,989,249 I1411V probably damaging Het
Dock9 A C 14: 121,639,528 V477G probably damaging Het
Fam149a T A 8: 45,341,228 E632D probably damaging Het
Gabra4 A G 5: 71,624,015 V351A probably damaging Het
Gen1 T A 12: 11,248,264 I319L probably benign Het
Gne C A 4: 44,055,211 D255Y probably damaging Het
Gpr146 A G 5: 139,392,950 H169R probably benign Het
Htatip2 A G 7: 49,759,774 E92G probably benign Het
Ipcef1 A G 10: 6,919,732 S223P probably damaging Het
Kcnmb2 T A 3: 32,198,127 *37R probably null Het
Lin54 A T 5: 100,454,478 V400E probably damaging Het
Ltbp1 C A 17: 75,282,418 Q511K possibly damaging Het
Lyg1 A G 1: 37,950,768 probably benign Het
Nampt T A 12: 32,842,686 V324D possibly damaging Het
Nat8b-ps T G 6: 85,932,968 probably benign Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Nfkb1 T C 3: 135,618,830 E179G possibly damaging Het
Nlrc5 T A 8: 94,521,908 probably benign Het
Olfr102 T A 17: 37,313,773 I204F probably benign Het
Olfr1085 A T 2: 86,658,431 L9Q possibly damaging Het
Pcdh15 G A 10: 74,355,874 V601M probably damaging Het
Pigc G A 1: 161,970,776 R109Q possibly damaging Het
Plxna2 A G 1: 194,801,127 N1582S probably damaging Het
Psmb5 A G 14: 54,616,557 S155P probably damaging Het
Rock2 T A 12: 16,953,340 D393E probably benign Het
Slc25a21 T C 12: 56,738,625 T156A probably benign Het
Slc44a1 T A 4: 53,536,374 Y183* probably null Het
Sytl2 C T 7: 90,392,434 P580L probably damaging Het
Tktl2 G T 8: 66,512,284 V165F probably damaging Het
Trim55 A G 3: 19,674,465 E480G probably benign Het
Vmn2r92 T A 17: 18,166,710 S104T possibly damaging Het
Vps51 C T 19: 6,070,048 R490H probably damaging Het
Wdr43 G A 17: 71,641,287 V391I probably benign Het
Zranb1 T G 7: 132,949,906 Y121* probably null Het
Other mutations in Pros1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Pros1 APN 16 62910045 missense probably damaging 0.99
IGL01300:Pros1 APN 16 62913811 missense possibly damaging 0.85
IGL02709:Pros1 APN 16 62898945 missense probably damaging 0.99
IGL03080:Pros1 APN 16 62918143 missense probably damaging 0.98
F6893:Pros1 UTSW 16 62924639 missense probably damaging 0.98
R0124:Pros1 UTSW 16 62913946 missense possibly damaging 0.95
R0517:Pros1 UTSW 16 62903518 missense probably benign 0.03
R1113:Pros1 UTSW 16 62913865 missense probably damaging 0.99
R1308:Pros1 UTSW 16 62913865 missense probably damaging 0.99
R1355:Pros1 UTSW 16 62919558 missense probably benign 0.23
R1370:Pros1 UTSW 16 62919558 missense probably benign 0.23
R1517:Pros1 UTSW 16 62885512 missense probably damaging 0.98
R1866:Pros1 UTSW 16 62928135 missense possibly damaging 0.86
R1876:Pros1 UTSW 16 62903518 missense probably damaging 0.96
R2255:Pros1 UTSW 16 62903572 missense possibly damaging 0.86
R2364:Pros1 UTSW 16 62913848 missense probably damaging 0.99
R2369:Pros1 UTSW 16 62928069 missense probably damaging 1.00
R2979:Pros1 UTSW 16 62913866 missense probably damaging 0.99
R3724:Pros1 UTSW 16 62900329 missense possibly damaging 0.86
R4056:Pros1 UTSW 16 62900645 nonsense probably null
R4556:Pros1 UTSW 16 62900673 missense possibly damaging 0.95
R4688:Pros1 UTSW 16 62889007 critical splice donor site probably null
R4850:Pros1 UTSW 16 62885524 missense probably damaging 0.98
R4923:Pros1 UTSW 16 62903572 missense possibly damaging 0.86
R5008:Pros1 UTSW 16 62928185 missense possibly damaging 0.53
R5370:Pros1 UTSW 16 62913976 missense probably benign 0.01
R5580:Pros1 UTSW 16 62926326 critical splice acceptor site probably null
R5930:Pros1 UTSW 16 62928061 missense probably damaging 0.96
R5974:Pros1 UTSW 16 62900667 missense probably damaging 0.98
R6233:Pros1 UTSW 16 62898921 missense possibly damaging 0.47
R6949:Pros1 UTSW 16 62924575 missense probably benign 0.01
R7055:Pros1 UTSW 16 62928102 missense possibly damaging 0.85
R7347:Pros1 UTSW 16 62919523 missense probably damaging 0.97
R7375:Pros1 UTSW 16 62924550 missense probably damaging 0.96
R7419:Pros1 UTSW 16 62928070 nonsense probably null
Posted On2016-08-02