Incidental Mutation 'IGL02603:Psg19'
ID 300142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psg19
Ensembl Gene ENSMUSG00000004542
Gene Name pregnancy specific beta-1-glycoprotein 19
Synonyms Cea-4, Cea4, CGM7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02603
Quality Score
Status
Chromosome 7
Chromosomal Location 18523492-18532445 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18526693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 146 (S146P)
Ref Sequence ENSEMBL: ENSMUSP00000138621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004657] [ENSMUST00000182853]
AlphaFold Q4KL31
Predicted Effect probably benign
Transcript: ENSMUST00000004657
AA Change: S266P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000004657
Gene: ENSMUSG00000004542
AA Change: S266P

DomainStartEndE-ValueType
IG 40 141 9.2e-3 SMART
IG 160 261 4.5e0 SMART
IG 280 381 4.67e-4 SMART
IGc2 397 461 1.58e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182681
Predicted Effect probably benign
Transcript: ENSMUST00000182853
AA Change: S146P

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138621
Gene: ENSMUSG00000004542
AA Change: S146P

DomainStartEndE-ValueType
IG 40 141 9.2e-3 SMART
IG 160 261 4.67e-4 SMART
IGc2 277 341 1.58e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182916
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207882
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,637,071 (GRCm39) S3457P possibly damaging Het
Aipl1 A G 11: 71,927,526 (GRCm39) I63T possibly damaging Het
Atp7b C T 8: 22,484,792 (GRCm39) V1307M possibly damaging Het
Cdc20b T C 13: 113,215,289 (GRCm39) S286P possibly damaging Het
Eif2ak4 G A 2: 118,280,807 (GRCm39) R946H probably damaging Het
Fam98c A G 7: 28,853,873 (GRCm39) S232P probably damaging Het
Glt1d1 G T 5: 127,709,409 (GRCm39) R21L probably damaging Het
Gm5422 A G 10: 31,125,436 (GRCm39) noncoding transcript Het
Haao T A 17: 84,142,970 (GRCm39) D125V probably benign Het
Hipk1 A G 3: 103,657,588 (GRCm39) V832A probably damaging Het
Lrrtm4 C A 6: 79,999,967 (GRCm39) Q460K possibly damaging Het
Lyar A G 5: 38,391,405 (GRCm39) N368S probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Lztr1 C A 16: 17,327,550 (GRCm39) N84K possibly damaging Het
Ndufa8 C A 2: 35,934,470 (GRCm39) C36F probably damaging Het
Or11g24 T A 14: 50,662,657 (GRCm39) V227E probably damaging Het
Or2n1d T A 17: 38,646,404 (GRCm39) S119T probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Spopfm3 A T 3: 94,105,744 (GRCm39) T21S possibly damaging Het
Other mutations in Psg19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Psg19 APN 7 18,527,971 (GRCm39) nonsense probably null
IGL01864:Psg19 APN 7 18,528,077 (GRCm39) missense probably benign 0.03
IGL01996:Psg19 APN 7 18,523,986 (GRCm39) missense possibly damaging 0.45
PIT4280001:Psg19 UTSW 7 18,530,831 (GRCm39) missense probably damaging 0.98
R0139:Psg19 UTSW 7 18,530,942 (GRCm39) missense possibly damaging 0.65
R0894:Psg19 UTSW 7 18,527,987 (GRCm39) missense probably benign 0.14
R1394:Psg19 UTSW 7 18,530,983 (GRCm39) missense probably damaging 0.99
R1911:Psg19 UTSW 7 18,528,193 (GRCm39) missense probably damaging 0.96
R2116:Psg19 UTSW 7 18,528,180 (GRCm39) missense probably damaging 0.99
R2165:Psg19 UTSW 7 18,530,911 (GRCm39) missense possibly damaging 0.70
R4791:Psg19 UTSW 7 18,528,071 (GRCm39) missense probably damaging 1.00
R5093:Psg19 UTSW 7 18,530,894 (GRCm39) missense probably benign 0.00
R6290:Psg19 UTSW 7 18,528,014 (GRCm39) missense probably benign 0.00
R7255:Psg19 UTSW 7 18,527,973 (GRCm39) missense probably benign 0.17
R7718:Psg19 UTSW 7 18,526,368 (GRCm39) missense probably benign 0.05
R8676:Psg19 UTSW 7 18,527,990 (GRCm39) missense probably benign
R8751:Psg19 UTSW 7 18,530,888 (GRCm39) missense probably benign 0.27
R9022:Psg19 UTSW 7 18,531,044 (GRCm39) missense probably benign 0.44
R9022:Psg19 UTSW 7 18,530,762 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16