Incidental Mutation 'IGL01300:Pros1'
ID 75233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pros1
Ensembl Gene ENSMUSG00000022912
Gene Name protein S (alpha)
Synonyms protein S
Accession Numbers

Genbank: NM_011173; MGI: 1095733  

Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01300
Quality Score
Status
Chromosome 16
Chromosomal Location 62854307-62929346 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62913811 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 327 (F327L)
Ref Sequence ENSEMBL: ENSMUSP00000023629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023629]
AlphaFold Q08761
Predicted Effect possibly damaging
Transcript: ENSMUST00000023629
AA Change: F327L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: F327L

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa8 A G 14: 34,099,743 D300G probably benign Het
Cacna1g T C 11: 94,433,912 H1161R probably benign Het
Col14a1 G A 15: 55,467,976 R1471Q unknown Het
Gm14496 A T 2: 182,000,960 E808V probably damaging Het
Gm1968 T C 16: 29,962,220 noncoding transcript Het
Gzmb G A 14: 56,260,196 R196C probably benign Het
Hkdc1 A G 10: 62,395,261 probably benign Het
Itgal T A 7: 127,314,118 V629E probably damaging Het
Jak2 T A 19: 29,309,683 Y1050N probably damaging Het
Lrrc69 C T 4: 14,773,663 probably benign Het
Mmd T C 11: 90,249,711 M1T probably null Het
Myh6 A G 14: 54,963,091 V191A possibly damaging Het
Mynn A G 3: 30,613,606 N485S probably damaging Het
Naa30 C T 14: 49,173,257 T214M probably damaging Het
Ncoa3 A T 2: 166,068,461 T1265S probably benign Het
Olfr118 C A 17: 37,672,887 T288K probably damaging Het
Olfr338 T C 2: 36,377,042 S89P probably benign Het
Prex1 A G 2: 166,638,407 C138R possibly damaging Het
Prom2 A T 2: 127,535,089 L535H probably benign Het
Ros1 A G 10: 52,101,713 M1479T probably benign Het
Scn9a G A 2: 66,488,053 Q1465* probably null Het
Serpinb3b A G 1: 107,155,843 probably benign Het
Sipa1l3 G A 7: 29,399,828 Q339* probably null Het
Slc34a2 A C 5: 53,068,127 probably null Het
Smc3 T A 19: 53,641,852 probably benign Het
Tmem30a A G 9: 79,775,100 probably null Het
Trappc11 A T 8: 47,501,868 D878E probably benign Het
Trrap C T 5: 144,804,818 T1325M probably damaging Het
Ttc12 A T 9: 49,447,922 probably benign Het
Vmn1r237 T A 17: 21,314,075 I20N probably damaging Het
Vmn2r115 T A 17: 23,359,781 S743T probably damaging Het
Vmn2r74 A G 7: 85,957,206 Y311H probably benign Het
Vnn3 T A 10: 23,864,365 F189I possibly damaging Het
Other mutations in Pros1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Pros1 APN 16 62910045 missense probably damaging 0.99
IGL02709:Pros1 APN 16 62898945 missense probably damaging 0.99
IGL03080:Pros1 APN 16 62918143 missense probably damaging 0.98
IGL03095:Pros1 APN 16 62907769 nonsense probably null
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
R7980:Pros1 UTSW 16 62928153 missense possibly damaging 0.86
R8234:Pros1 UTSW 16 62928177 missense possibly damaging 0.73
R8479:Pros1 UTSW 16 62907739 missense probably damaging 1.00
R8514:Pros1 UTSW 16 62910109 missense probably benign 0.03
R8827:Pros1 UTSW 16 62926464 missense probably benign 0.13
R9131:Pros1 UTSW 16 62928034 missense probably damaging 0.96
R9484:Pros1 UTSW 16 62924524 missense possibly damaging 0.91
Posted On 2013-10-07