Incidental Mutation 'IGL01571:Psg21'
ID 93282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psg21
Ensembl Gene ENSMUSG00000070796
Gene Name pregnancy-specific beta-1-glycoprotein 21
Synonyms 1600019C01Rik, 1600026N13Rik, 1600025N01Rik, cea8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL01571
Quality Score
Status
Chromosome 7
Chromosomal Location 18380661-18390650 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18388750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 114 (D114G)
Ref Sequence ENSEMBL: ENSMUSP00000138173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094793] [ENSMUST00000182128]
AlphaFold Q9DAV5
Predicted Effect probably damaging
Transcript: ENSMUST00000094793
AA Change: D114G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: D114G

DomainStartEndE-ValueType
IG 39 138 3.04e-3 SMART
IG 159 260 7.25e-1 SMART
IG 276 375 1.25e-4 SMART
IGc2 393 457 1.47e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182128
AA Change: D114G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: D114G

DomainStartEndE-ValueType
IG 39 138 3.04e-3 SMART
IG 159 260 7.25e-1 SMART
IG 276 375 1.25e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182933
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,450,377 (GRCm39) probably benign Het
Cep164 T C 9: 45,705,636 (GRCm39) Q127R possibly damaging Het
Ces1f T A 8: 93,984,996 (GRCm39) M444L probably benign Het
Chd5 T A 4: 152,468,572 (GRCm39) probably benign Het
Cpd T A 11: 76,673,122 (GRCm39) Y1341F probably damaging Het
Cryz T C 3: 154,327,380 (GRCm39) I268T probably damaging Het
Csnk2a1 G A 2: 152,117,326 (GRCm39) R278H probably damaging Het
Cyp4a12b A G 4: 115,295,354 (GRCm39) I487V probably benign Het
Dnajb5 T C 4: 42,956,516 (GRCm39) probably benign Het
Dxo A T 17: 35,058,016 (GRCm39) H214L probably damaging Het
Etfb T C 7: 43,102,383 (GRCm39) probably null Het
G6pc2 G A 2: 69,053,311 (GRCm39) V122I probably damaging Het
Gm5431 A T 11: 48,785,540 (GRCm39) D278E probably benign Het
Gstt2 C T 10: 75,670,005 (GRCm39) probably benign Het
Hnf4g A C 3: 3,716,326 (GRCm39) probably benign Het
Ifi44 T C 3: 151,451,174 (GRCm39) D259G probably damaging Het
Klk1 T C 7: 43,878,020 (GRCm39) V92A probably damaging Het
Lypla1 T C 1: 4,915,211 (GRCm39) I222T probably benign Het
Nbeal2 T C 9: 110,461,826 (GRCm39) N1510D possibly damaging Het
Ndufaf7 A G 17: 79,251,281 (GRCm39) R229G probably damaging Het
Nphp4 G A 4: 152,640,839 (GRCm39) V1069M probably benign Het
Nsd2 A G 5: 34,022,031 (GRCm39) H528R probably benign Het
Or10p21 A T 10: 128,847,696 (GRCm39) I181F probably damaging Het
Or4k48 C A 2: 111,475,725 (GRCm39) V206L probably benign Het
Or7a39 A G 10: 78,715,671 (GRCm39) I222V possibly damaging Het
Pigh A C 12: 79,132,634 (GRCm39) probably benign Het
Prr14l A T 5: 32,986,150 (GRCm39) M1115K probably benign Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Pygb T C 2: 150,672,393 (GRCm39) S831P probably benign Het
Ryr2 T A 13: 11,736,647 (GRCm39) D2260V probably damaging Het
Sgo2a T C 1: 58,057,133 (GRCm39) S1106P probably damaging Het
Slc5a5 G A 8: 71,343,976 (GRCm39) probably benign Het
Tekt4 A G 17: 25,695,358 (GRCm39) D397G probably benign Het
Trrap T A 5: 144,770,097 (GRCm39) probably benign Het
Upf2 T C 2: 6,023,750 (GRCm39) probably benign Het
Usp17lb A T 7: 104,489,588 (GRCm39) N445K possibly damaging Het
Vmn2r111 A G 17: 22,790,373 (GRCm39) V211A probably damaging Het
Vmn2r23 A G 6: 123,681,366 (GRCm39) I91M probably damaging Het
Vps13b C T 15: 35,877,635 (GRCm39) probably benign Het
Zc3hc1 G A 6: 30,390,862 (GRCm39) T47I probably benign Het
Other mutations in Psg21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02390:Psg21 APN 7 18,386,556 (GRCm39) missense probably benign 0.11
IGL02548:Psg21 APN 7 18,388,961 (GRCm39) missense possibly damaging 0.89
IGL03001:Psg21 APN 7 18,386,410 (GRCm39) missense probably benign 0.03
IGL03135:Psg21 APN 7 18,388,843 (GRCm39) missense probably benign 0.00
R0131:Psg21 UTSW 7 18,388,793 (GRCm39) missense probably benign 0.39
R0551:Psg21 UTSW 7 18,386,565 (GRCm39) critical splice acceptor site probably null
R1512:Psg21 UTSW 7 18,390,425 (GRCm39) missense probably benign 0.00
R1874:Psg21 UTSW 7 18,384,741 (GRCm39) missense probably benign 0.15
R1993:Psg21 UTSW 7 18,388,695 (GRCm39) missense probably benign 0.04
R2327:Psg21 UTSW 7 18,386,378 (GRCm39) missense possibly damaging 0.61
R3414:Psg21 UTSW 7 18,386,305 (GRCm39) missense probably damaging 1.00
R4422:Psg21 UTSW 7 18,381,257 (GRCm39) missense probably damaging 1.00
R5138:Psg21 UTSW 7 18,390,453 (GRCm39) start codon destroyed probably null 0.94
R5623:Psg21 UTSW 7 18,388,939 (GRCm39) missense probably damaging 1.00
R5686:Psg21 UTSW 7 18,386,183 (GRCm39) intron probably benign
R6166:Psg21 UTSW 7 18,390,664 (GRCm39) unclassified probably benign
R6177:Psg21 UTSW 7 18,386,279 (GRCm39) missense possibly damaging 0.64
R6190:Psg21 UTSW 7 18,388,926 (GRCm39) missense possibly damaging 0.61
R6210:Psg21 UTSW 7 18,386,270 (GRCm39) missense probably damaging 1.00
R6482:Psg21 UTSW 7 18,388,664 (GRCm39) splice site probably null
R6729:Psg21 UTSW 7 18,386,516 (GRCm39) missense probably damaging 1.00
R6866:Psg21 UTSW 7 18,386,209 (GRCm39) missense probably damaging 1.00
R6992:Psg21 UTSW 7 18,388,668 (GRCm39) critical splice donor site probably null
R7075:Psg21 UTSW 7 18,388,786 (GRCm39) missense probably damaging 1.00
R7081:Psg21 UTSW 7 18,388,774 (GRCm39) nonsense probably null
R7098:Psg21 UTSW 7 18,386,470 (GRCm39) missense probably damaging 1.00
R7582:Psg21 UTSW 7 18,381,128 (GRCm39) makesense probably null
R7588:Psg21 UTSW 7 18,381,134 (GRCm39) missense probably benign 0.00
R7607:Psg21 UTSW 7 18,388,708 (GRCm39) missense probably benign 0.02
R7830:Psg21 UTSW 7 18,381,223 (GRCm39) missense probably damaging 1.00
R7964:Psg21 UTSW 7 18,381,136 (GRCm39) missense probably benign 0.01
R8758:Psg21 UTSW 7 18,384,678 (GRCm39) missense probably damaging 1.00
R8972:Psg21 UTSW 7 18,381,293 (GRCm39) missense probably benign 0.03
R8988:Psg21 UTSW 7 18,386,389 (GRCm39) missense probably benign 0.00
R9119:Psg21 UTSW 7 18,381,409 (GRCm39) missense probably benign 0.14
R9446:Psg21 UTSW 7 18,388,865 (GRCm39) missense probably benign 0.00
Posted On 2013-12-09