Incidental Mutation 'IGL02926:Psg27'
ID 363857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psg27
Ensembl Gene ENSMUSG00000070797
Gene Name pregnancy-specific beta-1-glycoprotein 27
Synonyms cea15, EG545925
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02926
Quality Score
Status
Chromosome 7
Chromosomal Location 18290439-18301230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18291054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 383 (V383E)
Ref Sequence ENSEMBL: ENSMUSP00000092388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094794]
AlphaFold Q497W2
Predicted Effect probably damaging
Transcript: ENSMUST00000094794
AA Change: V383E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092388
Gene: ENSMUSG00000070797
AA Change: V383E

DomainStartEndE-ValueType
IG 39 140 4.13e-5 SMART
IG 159 260 5.89e-1 SMART
IG 279 380 1.39e-2 SMART
IGc2 396 460 3.62e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A T 6: 85,618,432 (GRCm39) D2826V probably damaging Het
Alpl C T 4: 137,469,945 (GRCm39) A460T probably damaging Het
C2cd5 A G 6: 142,976,963 (GRCm39) probably benign Het
C4b C T 17: 34,949,686 (GRCm39) R1468Q possibly damaging Het
Calu A G 6: 29,366,919 (GRCm39) T44A possibly damaging Het
Cgn T C 3: 94,685,326 (GRCm39) K399R probably benign Het
Ciao3 A G 17: 26,001,128 (GRCm39) H460R probably benign Het
Cyp2t4 G A 7: 26,857,228 (GRCm39) V356M probably damaging Het
D430041D05Rik T C 2: 104,044,604 (GRCm39) D683G probably damaging Het
Dhcr24 T A 4: 106,443,552 (GRCm39) I410N probably damaging Het
Dmap1 T A 4: 117,539,085 (GRCm39) E17V probably benign Het
Dnaaf9 C T 2: 130,554,286 (GRCm39) R921K probably benign Het
Dnah7a A G 1: 53,535,109 (GRCm39) I2717T possibly damaging Het
Epb41l3 G T 17: 69,554,741 (GRCm39) K280N probably damaging Het
Espl1 T A 15: 102,208,290 (GRCm39) M432K probably damaging Het
Fgf5 C A 5: 98,409,874 (GRCm39) A141E probably damaging Het
Fto T A 8: 92,211,795 (GRCm39) F373L probably damaging Het
Gpatch1 T C 7: 35,007,694 (GRCm39) D122G probably damaging Het
Ints11 T C 4: 155,972,568 (GRCm39) probably null Het
Jarid2 A G 13: 45,056,405 (GRCm39) Q398R probably benign Het
Kcnh1 A G 1: 191,959,208 (GRCm39) D254G probably damaging Het
Lamc3 C T 2: 31,825,738 (GRCm39) probably benign Het
Lamc3 C T 2: 31,825,737 (GRCm39) probably benign Het
Ltbp4 T C 7: 27,028,297 (GRCm39) probably null Het
Mcm6 A G 1: 128,267,119 (GRCm39) Y575H probably damaging Het
Myh9 A C 15: 77,671,826 (GRCm39) Y422D probably damaging Het
Or4c35 T C 2: 89,808,506 (GRCm39) L128P probably damaging Het
Or5b105 A C 19: 13,080,187 (GRCm39) N160K possibly damaging Het
Or8b47 T C 9: 38,435,021 (GRCm39) probably benign Het
Plcb1 T C 2: 135,206,682 (GRCm39) probably benign Het
Pmfbp1 A G 8: 110,246,881 (GRCm39) E251G probably damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rbl1 A G 2: 157,009,333 (GRCm39) V734A probably benign Het
Rspry1 T A 8: 95,376,439 (GRCm39) N320K probably damaging Het
Ryr1 A T 7: 28,760,965 (GRCm39) V3219D probably damaging Het
Ryr2 C A 13: 11,774,721 (GRCm39) W1145L probably damaging Het
Scel A T 14: 103,813,683 (GRCm39) R319* probably null Het
Stxbp2 C T 8: 3,685,629 (GRCm39) T226I probably benign Het
Tac1 A T 6: 7,562,410 (GRCm39) N106I possibly damaging Het
Trim13 G T 14: 61,842,693 (GRCm39) probably null Het
Tspan31 T G 10: 126,904,778 (GRCm39) probably null Het
Usp36 C T 11: 118,155,609 (GRCm39) V723M probably benign Het
Utrn A T 10: 12,566,504 (GRCm39) N1219K probably damaging Het
Vcan G T 13: 89,836,742 (GRCm39) T2934K probably damaging Het
Other mutations in Psg27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Psg27 APN 7 18,295,729 (GRCm39) missense probably damaging 1.00
IGL00417:Psg27 APN 7 18,295,842 (GRCm39) missense probably benign 0.22
IGL01344:Psg27 APN 7 18,294,342 (GRCm39) missense probably damaging 1.00
IGL01781:Psg27 APN 7 18,298,989 (GRCm39) missense probably damaging 1.00
IGL02547:Psg27 APN 7 18,294,553 (GRCm39) missense probably benign
IGL03074:Psg27 APN 7 18,294,454 (GRCm39) missense probably benign 0.02
IGL03237:Psg27 APN 7 18,294,417 (GRCm39) missense probably benign 0.00
IGL02796:Psg27 UTSW 7 18,295,875 (GRCm39) missense probably benign 0.08
R0437:Psg27 UTSW 7 18,294,636 (GRCm39) splice site probably benign
R0604:Psg27 UTSW 7 18,290,997 (GRCm39) missense probably damaging 0.98
R1163:Psg27 UTSW 7 18,299,234 (GRCm39) missense probably damaging 0.99
R2072:Psg27 UTSW 7 18,298,934 (GRCm39) missense probably benign 0.16
R2072:Psg27 UTSW 7 18,294,342 (GRCm39) missense probably damaging 1.00
R2073:Psg27 UTSW 7 18,294,342 (GRCm39) missense probably damaging 1.00
R2074:Psg27 UTSW 7 18,294,342 (GRCm39) missense probably damaging 1.00
R2081:Psg27 UTSW 7 18,290,883 (GRCm39) missense probably damaging 1.00
R2206:Psg27 UTSW 7 18,301,036 (GRCm39) nonsense probably null
R2866:Psg27 UTSW 7 18,295,818 (GRCm39) missense probably benign
R3783:Psg27 UTSW 7 18,294,279 (GRCm39) missense probably damaging 1.00
R3784:Psg27 UTSW 7 18,294,279 (GRCm39) missense probably damaging 1.00
R4463:Psg27 UTSW 7 18,291,010 (GRCm39) missense possibly damaging 0.46
R5312:Psg27 UTSW 7 18,290,958 (GRCm39) missense probably benign 0.43
R5885:Psg27 UTSW 7 18,295,711 (GRCm39) missense probably damaging 0.96
R6087:Psg27 UTSW 7 18,290,869 (GRCm39) missense probably benign 0.05
R7011:Psg27 UTSW 7 18,290,798 (GRCm39) missense probably benign 0.00
R7198:Psg27 UTSW 7 18,295,726 (GRCm39) missense probably damaging 1.00
R7381:Psg27 UTSW 7 18,301,008 (GRCm39) missense probably benign 0.20
R7964:Psg27 UTSW 7 18,299,124 (GRCm39) missense probably damaging 1.00
R8398:Psg27 UTSW 7 18,295,837 (GRCm39) missense probably benign 0.29
R8472:Psg27 UTSW 7 18,296,015 (GRCm39) missense probably benign 0.18
R8818:Psg27 UTSW 7 18,294,337 (GRCm39) missense probably damaging 1.00
R9345:Psg27 UTSW 7 18,299,081 (GRCm39) missense probably benign 0.02
X0064:Psg27 UTSW 7 18,295,720 (GRCm39) nonsense probably null
Posted On 2015-12-18