Incidental Mutation 'PIT4466001:Psg18'
ID 555780
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 # PIT4466001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 18079669-18088963 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 18083241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 305 (T305P)
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: T305P

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: T305P

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 possibly damaging
Transcript: ENSMUST00000098783
AA Change: T184P

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: T184P

DomainStartEndE-ValueType
IG 40 141 1.03e0 SMART
IG 160 259 2.15e-3 SMART
Predicted Effect
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.9%
  • 10x: 85.1%
  • 20x: 72.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C A 9: 99,502,613 (GRCm39) P258T probably damaging Het
Adamts1 C A 16: 85,593,579 (GRCm39) G719* probably null Het
Ano5 G T 7: 51,194,599 (GRCm39) D111Y probably damaging Het
Arvcf T C 16: 18,221,699 (GRCm39) V714A possibly damaging Het
AU021092 T A 16: 5,038,253 (GRCm39) S85C probably damaging Het
Capn5 T C 7: 97,773,195 (GRCm39) D603G probably benign Het
Cbr1 T A 16: 93,406,692 (GRCm39) V136E probably damaging Het
Ccdc27 T C 4: 154,126,184 (GRCm39) M102V unknown Het
Ccr1 T C 9: 123,763,765 (GRCm39) Y255C probably damaging Het
Cdr1 AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC X: 60,228,130 (GRCm39) probably benign Het
Cep112 A G 11: 108,410,722 (GRCm39) T553A probably benign Het
Chd7 C T 4: 8,753,101 (GRCm39) L533F unknown Het
Cntnap1 T C 11: 101,068,131 (GRCm39) F48L probably benign Het
Cyb5r3 T C 15: 83,046,064 (GRCm39) D84G probably damaging Het
Ddx47 T C 6: 134,992,803 (GRCm39) I154T probably benign Het
Dennd2b G A 7: 109,130,337 (GRCm39) A888V probably damaging Het
Dnah6 A G 6: 73,185,624 (GRCm39) L99P probably benign Het
Dzank1 A G 2: 144,325,293 (GRCm39) I558T probably benign Het
Fbn1 T C 2: 125,148,421 (GRCm39) D2609G possibly damaging Het
Fhl5 C A 4: 25,211,194 (GRCm39) C166F probably damaging Het
Fndc1 A G 17: 7,969,206 (GRCm39) L1553P probably damaging Het
Frem1 G A 4: 82,890,374 (GRCm39) T1035I probably benign Het
Gm3099 A G 14: 15,346,517 (GRCm39) M128V probably benign Het
Gpaa1 C T 15: 76,218,940 (GRCm39) T594I probably benign Het
Hck C T 2: 152,966,191 (GRCm39) T55M probably damaging Het
Hectd4 T C 5: 121,471,123 (GRCm39) probably null Het
Ica1l C T 1: 60,054,995 (GRCm39) probably null Het
Ilf3 T C 9: 21,314,662 (GRCm39) Y765H unknown Het
Mast4 G A 13: 102,941,226 (GRCm39) T277M probably damaging Het
Mfsd6 T C 1: 52,748,056 (GRCm39) T270A probably benign Het
Mib1 G A 18: 10,775,541 (GRCm39) D498N probably benign Het
Naaladl1 A T 19: 6,164,663 (GRCm39) T576S possibly damaging Het
Ncoa6 A T 2: 155,247,577 (GRCm39) I1909N probably benign Het
Negr1 A G 3: 156,565,235 (GRCm39) D107G probably benign Het
Nlrc4 A G 17: 74,734,114 (GRCm39) M933T probably benign Het
Nmnat3 T G 9: 98,292,306 (GRCm39) F184V probably benign Het
Or4b12 A T 2: 90,096,639 (GRCm39) V45E probably damaging Het
Or5p81 T C 7: 108,266,743 (GRCm39) V40A possibly damaging Het
Or6c76 C T 10: 129,612,142 (GRCm39) R120C probably benign Het
Or7a42 C A 10: 78,791,676 (GRCm39) F212L probably benign Het
Pfkfb4 T C 9: 108,828,222 (GRCm39) Y86H probably benign Het
Pgm5 T G 19: 24,801,693 (GRCm39) Q178H probably damaging Het
Phrf1 C T 7: 140,838,725 (GRCm39) T640M unknown Het
Pramel34 A C 5: 93,784,147 (GRCm39) L439R probably damaging Het
Skil T A 3: 31,152,381 (GRCm39) V301D probably damaging Het
Slc36a1 C A 11: 55,109,895 (GRCm39) P68T probably damaging Het
Smim6 T C 11: 115,804,371 (GRCm39) F53L probably benign Het
Tpgs2 G A 18: 25,301,652 (GRCm39) T5M possibly damaging Het
Trrap T A 5: 144,765,410 (GRCm39) V2523D probably benign Het
Usp9y A T Y: 1,432,197 (GRCm39) D429E probably damaging Het
Vmn1r125 A G 7: 21,006,818 (GRCm39) T239A probably benign Het
Vmn1r168 T C 7: 23,240,421 (GRCm39) F93L probably damaging Het
Vmn1r88 A G 7: 12,912,403 (GRCm39) N253S possibly damaging Het
Zfp644 C T 5: 106,784,343 (GRCm39) A735T probably damaging 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
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
R2439:Psg18 UTSW 7 18,080,044 (GRCm39) missense probably benign 0.24
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'- GCTGTTACAACTCTCACATTGC -3'
(R):5'- GCAGGTCACCATCTTTCCAC -3'

Sequencing Primer
(F):5'- GTTATTAGTGTGTATAAGCCAGAGTC -3'
(R):5'- ACCTAGCACAATGATCCCTTCTG -3'
Posted On 2019-06-07