Incidental Mutation 'IGL02727:Psg18'
ID 305239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psg18
Ensembl Gene ENSMUSG00000003505
Gene Name pregnancy specific glycoprotein 18
Synonyms Cea-3, Cea3, mmCGM6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02727
Quality Score
Status
Chromosome 7
Chromosomal Location 18345422-18355009 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18345950 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 442 (I442K)
Ref Sequence ENSEMBL: ENSMUSP00000003597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003597] [ENSMUST00000098783]
AlphaFold B2RSG7
Predicted Effect probably damaging
Transcript: ENSMUST00000003597
AA Change: I442K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: I442K

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: I101K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183222
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,187,565 T13A probably benign Het
Aldh1l2 T A 10: 83,506,605 K447I probably damaging Het
Ankrd17 A G 5: 90,244,292 S1840P possibly damaging Het
Ash1l A G 3: 89,023,037 I1940M probably benign Het
Bfar T G 16: 13,688,927 probably null Het
Bicra G T 7: 15,979,465 H937Q possibly damaging Het
Brip1 A T 11: 86,152,736 M334K probably benign Het
Camsap2 T G 1: 136,304,312 M182L probably benign Het
Ccdc144b T A 3: 36,032,916 R176S possibly damaging Het
Chd6 A T 2: 160,969,463 C1407S probably damaging Het
Cmya5 A G 13: 93,098,245 S112P possibly damaging Het
Csmd1 A T 8: 16,231,327 V728E probably damaging Het
Cyp2j6 T A 4: 96,545,764 Q103L probably benign Het
Ddias A T 7: 92,866,622 I21K probably damaging Het
Derl2 A C 11: 71,013,210 probably benign Het
Dgka A T 10: 128,722,448 probably benign Het
Dusp11 T C 6: 85,961,492 D15G probably damaging Het
Enpp2 T C 15: 54,910,181 D110G probably damaging Het
Fkbp11 A T 15: 98,724,590 V134E probably damaging Het
Gm3248 T C 14: 5,945,036 T49A probably damaging Het
Lrmp T C 6: 145,174,618 S520P possibly damaging Het
Luzp2 T C 7: 55,172,191 probably benign Het
Manea T A 4: 26,328,126 E305V probably damaging Het
Manea C A 4: 26,328,127 E305* probably null Het
Megf6 A G 4: 154,253,149 probably null Het
Mrpl3 G T 9: 105,054,527 D59Y probably damaging Het
Myh9 T C 15: 77,791,742 Y248C probably benign Het
Nbeal2 G A 9: 110,639,285 probably benign Het
Olfr1386 G T 11: 49,471,066 G305V probably benign Het
Olfr161 T A 16: 3,593,326 I310K probably benign Het
Olfr713 G T 7: 107,036,695 C180F probably damaging Het
Olfr889 A G 9: 38,116,512 T239A probably damaging Het
Pax8 C A 2: 24,441,630 C147F probably damaging Het
Phf12 T C 11: 78,023,667 V96A possibly damaging Het
Pygl T A 12: 70,207,668 probably null Het
Rassf2 C A 2: 132,004,387 R150L probably benign Het
Rdh7 A T 10: 127,887,618 W123R probably damaging Het
Saal1 T C 7: 46,689,799 probably null Het
Sall1 T C 8: 89,030,755 D907G probably damaging Het
Spag1 T A 15: 36,234,818 F876I probably damaging Het
Syncrip G A 9: 88,479,879 A61V probably damaging Het
Trbv3 A T 6: 41,048,642 K55N probably benign Het
Vmn1r178 A G 7: 23,894,446 probably null Het
Vmn2r84 T C 10: 130,394,126 D39G possibly damaging Het
Other mutations in Psg18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Psg18 APN 7 18354816 start codon destroyed probably null 0.99
IGL01748:Psg18 APN 7 18353551 missense probably benign 0.05
IGL01767:Psg18 APN 7 18353397 missense possibly damaging 0.80
IGL02744:Psg18 APN 7 18349402 missense probably benign 0.38
G1Funyon:Psg18 UTSW 7 18353377 missense probably damaging 0.99
PIT4466001:Psg18 UTSW 7 18349316 missense probably benign 0.30
R0331:Psg18 UTSW 7 18353308 missense probably benign 0.03
R1077:Psg18 UTSW 7 18351075 missense possibly damaging 0.84
R1171:Psg18 UTSW 7 18346079 missense probably benign 0.10
R1173:Psg18 UTSW 7 18354817 start codon destroyed probably null 0.97
R1234:Psg18 UTSW 7 18349190 missense probably damaging 1.00
R1553:Psg18 UTSW 7 18353481 missense probably benign 0.19
R1632:Psg18 UTSW 7 18350899 missense probably benign 0.02
R2108:Psg18 UTSW 7 18350874 missense probably damaging 1.00
R2439:Psg18 UTSW 7 18346119 missense probably benign 0.24
R3032:Psg18 UTSW 7 18350979 missense probably benign 0.01
R3053:Psg18 UTSW 7 18349193 missense probably damaging 1.00
R3432:Psg18 UTSW 7 18349171 missense possibly damaging 0.61
R3725:Psg18 UTSW 7 18354823 start gained probably benign
R4479:Psg18 UTSW 7 18350862 missense probably benign 0.01
R4480:Psg18 UTSW 7 18350862 missense probably benign 0.01
R4846:Psg18 UTSW 7 18350786 nonsense probably null
R4858:Psg18 UTSW 7 18353484 missense possibly damaging 0.49
R5010:Psg18 UTSW 7 18349354 missense probably damaging 1.00
R5225:Psg18 UTSW 7 18345949 missense probably damaging 1.00
R5450:Psg18 UTSW 7 18353425 missense probably benign 0.32
R5526:Psg18 UTSW 7 18349348 missense probably damaging 1.00
R5840:Psg18 UTSW 7 18346602 intron probably benign
R6409:Psg18 UTSW 7 18353521 missense probably benign
R7164:Psg18 UTSW 7 18350937 missense possibly damaging 0.89
R7276:Psg18 UTSW 7 18345984 missense probably damaging 0.99
R7768:Psg18 UTSW 7 18346028 missense probably damaging 1.00
R8301:Psg18 UTSW 7 18353377 missense probably damaging 0.99
R8700:Psg18 UTSW 7 18353625 missense probably damaging 1.00
R8982:Psg18 UTSW 7 18349375 missense probably benign 0.20
R9042:Psg18 UTSW 7 18349122 missense probably benign 0.44
R9054:Psg18 UTSW 7 18353525 missense possibly damaging 0.82
Z1176:Psg18 UTSW 7 18354787 missense probably benign 0.07
Z1177:Psg18 UTSW 7 18349115 missense probably benign 0.30
Z1177:Psg18 UTSW 7 18349198 missense probably benign 0.10
Posted On 2015-04-16