Incidental Mutation 'R2439:Psg18'
ID 249731
Institutional Source Beutler Lab
Gene Symbol Psg18
Ensembl Gene ENSMUSG00000003505
Gene Name pregnancy specific beta-1-glycoprotein 18
Synonyms Cea-3, mmCGM6, Cea3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R2439 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 18079669-18088963 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18080044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 386 (T386A)
Ref Sequence ENSEMBL: ENSMUSP00000003597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003597] [ENSMUST00000098783]
AlphaFold B2RSG7
Predicted Effect probably benign
Transcript: ENSMUST00000003597
AA Change: T386A

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: T386A

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
IG 40 140 2.11e-2 SMART
IG 161 262 1.03e0 SMART
IG 281 380 2.15e-3 SMART
IGc2 398 462 1.58e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098783
SMART Domains Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505

DomainStartEndE-ValueType
IG 40 141 1.03e0 SMART
IG 160 259 2.15e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000182983
AA Change: T45A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183222
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11b C A 3: 35,868,233 (GRCm39) T635K possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Btla G T 16: 45,059,503 (GRCm39) C69F probably damaging Het
Cdh10 T G 15: 19,013,484 (GRCm39) L695V probably damaging Het
Cfap44 C T 16: 44,301,609 (GRCm39) probably benign Het
Dock10 T G 1: 80,510,149 (GRCm39) N1560H probably damaging Het
Ephb6 C A 6: 41,595,669 (GRCm39) H809Q probably benign Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Gdf7 A G 12: 8,348,050 (GRCm39) S416P probably damaging Het
Ints8 T C 4: 11,225,725 (GRCm39) M611V probably benign Het
Lypd8l A G 11: 58,501,603 (GRCm39) C127R probably damaging Het
Mical2 A G 7: 111,994,002 (GRCm39) E504G probably damaging Het
Mrps30 G A 13: 118,521,808 (GRCm39) P231S probably damaging Het
Nr1h3 T C 2: 91,020,565 (GRCm39) D256G probably benign Het
Pramel5 T C 4: 144,000,310 (GRCm39) M89V probably benign Het
Ptprc A G 1: 137,993,890 (GRCm39) V1180A possibly damaging Het
Rassf8 T C 6: 145,761,060 (GRCm39) S129P probably damaging Het
Rbm6 A G 9: 107,656,796 (GRCm39) Y994H probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc2a4 A G 11: 69,836,451 (GRCm39) F222S possibly damaging Het
Smarca2 T C 19: 26,668,854 (GRCm39) probably null Het
Tmtc4 T G 14: 123,209,315 (GRCm39) N110T probably damaging Het
Tsc22d1 TCAGCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCA 14: 76,654,707 (GRCm39) probably benign Het
Umad1 T A 6: 8,427,078 (GRCm39) D110E probably damaging Het
Ylpm1 A G 12: 85,060,891 (GRCm39) probably benign Het
Other mutations in Psg18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Psg18 APN 7 18,088,741 (GRCm39) start codon destroyed probably null 0.99
IGL01748:Psg18 APN 7 18,087,476 (GRCm39) missense probably benign 0.05
IGL01767:Psg18 APN 7 18,087,322 (GRCm39) missense possibly damaging 0.80
IGL02727:Psg18 APN 7 18,079,875 (GRCm39) missense probably damaging 1.00
IGL02744:Psg18 APN 7 18,083,327 (GRCm39) missense probably benign 0.38
G1Funyon:Psg18 UTSW 7 18,087,302 (GRCm39) missense probably damaging 0.99
PIT4466001:Psg18 UTSW 7 18,083,241 (GRCm39) missense probably benign 0.30
R0331:Psg18 UTSW 7 18,087,233 (GRCm39) missense probably benign 0.03
R1077:Psg18 UTSW 7 18,085,000 (GRCm39) missense possibly damaging 0.84
R1171:Psg18 UTSW 7 18,080,004 (GRCm39) missense probably benign 0.10
R1173:Psg18 UTSW 7 18,088,742 (GRCm39) start codon destroyed probably null 0.97
R1234:Psg18 UTSW 7 18,083,115 (GRCm39) missense probably damaging 1.00
R1553:Psg18 UTSW 7 18,087,406 (GRCm39) missense probably benign 0.19
R1632:Psg18 UTSW 7 18,084,824 (GRCm39) missense probably benign 0.02
R2108:Psg18 UTSW 7 18,084,799 (GRCm39) missense probably damaging 1.00
R3032:Psg18 UTSW 7 18,084,904 (GRCm39) missense probably benign 0.01
R3053:Psg18 UTSW 7 18,083,118 (GRCm39) missense probably damaging 1.00
R3432:Psg18 UTSW 7 18,083,096 (GRCm39) missense possibly damaging 0.61
R3725:Psg18 UTSW 7 18,088,748 (GRCm39) start gained probably benign
R4479:Psg18 UTSW 7 18,084,787 (GRCm39) missense probably benign 0.01
R4480:Psg18 UTSW 7 18,084,787 (GRCm39) missense probably benign 0.01
R4846:Psg18 UTSW 7 18,084,711 (GRCm39) nonsense probably null
R4858:Psg18 UTSW 7 18,087,409 (GRCm39) missense possibly damaging 0.49
R5010:Psg18 UTSW 7 18,083,279 (GRCm39) missense probably damaging 1.00
R5225:Psg18 UTSW 7 18,079,874 (GRCm39) missense probably damaging 1.00
R5450:Psg18 UTSW 7 18,087,350 (GRCm39) missense probably benign 0.32
R5526:Psg18 UTSW 7 18,083,273 (GRCm39) missense probably damaging 1.00
R5840:Psg18 UTSW 7 18,080,527 (GRCm39) intron probably benign
R6409:Psg18 UTSW 7 18,087,446 (GRCm39) missense probably benign
R7164:Psg18 UTSW 7 18,084,862 (GRCm39) missense possibly damaging 0.89
R7276:Psg18 UTSW 7 18,079,909 (GRCm39) missense probably damaging 0.99
R7768:Psg18 UTSW 7 18,079,953 (GRCm39) missense probably damaging 1.00
R8301:Psg18 UTSW 7 18,087,302 (GRCm39) missense probably damaging 0.99
R8700:Psg18 UTSW 7 18,087,550 (GRCm39) missense probably damaging 1.00
R8982:Psg18 UTSW 7 18,083,300 (GRCm39) missense probably benign 0.20
R9042:Psg18 UTSW 7 18,083,047 (GRCm39) missense probably benign 0.44
R9054:Psg18 UTSW 7 18,087,450 (GRCm39) missense possibly damaging 0.82
R9442:Psg18 UTSW 7 18,083,185 (GRCm39) nonsense probably null
R9538:Psg18 UTSW 7 18,084,713 (GRCm39) missense probably benign 0.01
R9689:Psg18 UTSW 7 18,084,880 (GRCm39) missense probably benign 0.00
Z1176:Psg18 UTSW 7 18,088,712 (GRCm39) missense probably benign 0.07
Z1177:Psg18 UTSW 7 18,083,123 (GRCm39) missense probably benign 0.10
Z1177:Psg18 UTSW 7 18,083,040 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- GCCTCACACTGATACTCTCCAG -3'
(R):5'- ATGGCTGAATCAGGGTCACAC -3'

Sequencing Primer
(F):5'- CCTCACAGTATGTATCCTGAGTTGG -3'
(R):5'- TCAGGGTCACACAGCACATAGTTG -3'
Posted On 2014-11-12