Incidental Mutation 'PIT4280001:Psg19'
ID 554411
Institutional Source Beutler Lab
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 # PIT4280001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 18523492-18532445 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18530831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 108 (I108V)
Ref Sequence ENSEMBL: ENSMUSP00000004657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004657] [ENSMUST00000182853]
AlphaFold Q4KL31
Predicted Effect probably damaging
Transcript: ENSMUST00000004657
AA Change: I108V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000004657
Gene: ENSMUSG00000004542
AA Change: I108V

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 possibly damaging
Transcript: ENSMUST00000182853
AA Change: I108V

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138621
Gene: ENSMUSG00000004542
AA Change: I108V

DomainStartEndE-ValueType
IG 40 141 9.2e-3 SMART
IG 160 261 4.67e-4 SMART
IGc2 277 341 1.58e-10 SMART
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.9%
  • 10x: 85.5%
  • 20x: 73.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,331,660 (GRCm39) D161G probably damaging Het
Acer2 C T 4: 86,805,320 (GRCm39) L95F probably damaging Het
Adam15 C T 3: 89,251,285 (GRCm39) probably null Het
Aoc1l3 A T 6: 48,964,054 (GRCm39) M21L probably benign Het
Bmi1 T A 2: 18,687,820 (GRCm39) Y98* probably null Het
Cdon T C 9: 35,398,231 (GRCm39) C983R probably damaging Het
Cfap91 C T 16: 38,153,135 (GRCm39) V160I probably benign Het
Col12a1 T C 9: 79,585,387 (GRCm39) R1297G probably damaging Het
Cpd A T 11: 76,681,850 (GRCm39) M1132K probably benign Het
Dnah17 T A 11: 117,989,408 (GRCm39) R1267W possibly damaging Het
Dnah9 G A 11: 65,895,839 (GRCm39) A2512V probably benign Het
Eri3 G A 4: 117,439,831 (GRCm39) G175D probably damaging Het
Fbxo9 C A 9: 77,994,793 (GRCm39) W244L probably damaging Het
Fgfr3 A T 5: 33,889,576 (GRCm39) H343L probably benign Het
Fmnl2 G A 2: 53,008,208 (GRCm39) A803T unknown Het
Fmnl3 A G 15: 99,219,134 (GRCm39) probably null Het
Fth1 C A 19: 9,961,973 (GRCm39) A104E probably damaging Het
Gcm1 T C 9: 77,966,915 (GRCm39) Y45H probably damaging Het
Gm5157 C G 7: 20,919,007 (GRCm39) G179R probably damaging Het
Gpr179 A G 11: 97,234,941 (GRCm39) I463T probably damaging Het
Gpr35 T C 1: 92,910,356 (GRCm39) Y23H probably damaging Het
Inpp4b C T 8: 82,761,046 (GRCm39) H647Y probably benign Het
Kif6 A T 17: 50,062,148 (GRCm39) K436M probably benign Het
Lacc1 T A 14: 77,272,517 (GRCm39) Q93L probably damaging Het
Lamc1 T C 1: 153,119,217 (GRCm39) R801G probably damaging Het
Lrp2bp T G 8: 46,476,048 (GRCm39) V263G probably damaging Het
Magi3 T A 3: 103,961,668 (GRCm39) K453N probably damaging Het
Mfsd6 T A 1: 52,700,039 (GRCm39) Y703F probably benign Het
Mms22l A G 4: 24,581,149 (GRCm39) T820A probably benign Het
Ndufa12 T C 10: 94,034,994 (GRCm39) probably null Het
Nlrp12 A T 7: 3,290,063 (GRCm39) C150S possibly damaging Het
Noc4l G A 5: 110,799,305 (GRCm39) T159I probably benign Het
Olfml2b T A 1: 170,475,305 (GRCm39) C77S probably damaging Het
Or4c12 A T 2: 89,774,087 (GRCm39) I124N probably damaging Het
Or9a4 C A 6: 40,548,650 (GRCm39) T110K probably damaging Het
Pdzd2 A G 15: 12,399,374 (GRCm39) V784A probably damaging Het
Pip5kl1 A T 2: 32,473,470 (GRCm39) Y369F probably benign Het
Pkdrej A T 15: 85,704,136 (GRCm39) I600N probably benign Het
Pxdn G A 12: 30,045,327 (GRCm39) V539M probably damaging Het
Resf1 T G 6: 149,227,023 (GRCm39) I23S probably benign Het
Rsbn1l T A 5: 21,124,653 (GRCm39) H383L probably damaging Het
Scamp2 A T 9: 57,488,076 (GRCm39) N118I probably damaging Het
Scn2a T C 2: 65,546,074 (GRCm39) V879A probably damaging Het
Scn8a G A 15: 100,855,370 (GRCm39) E172K probably damaging Het
Slc16a6 C T 11: 109,349,419 (GRCm39) C214Y possibly damaging Het
Stag1 A G 9: 100,824,769 (GRCm39) T922A possibly damaging Het
Tarbp1 T C 8: 127,157,586 (GRCm39) H1307R probably damaging Het
Tut1 T G 19: 8,936,626 (GRCm39) V150G probably benign Het
Ubr2 G A 17: 47,255,789 (GRCm39) R1371W probably damaging Het
Vmn2r124 A G 17: 18,283,487 (GRCm39) N394D probably benign Het
Vmn2r63 T C 7: 42,553,409 (GRCm39) T616A probably damaging Het
Zp3 G A 5: 136,013,318 (GRCm39) V217M 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
IGL02603:Psg19 APN 7 18,526,693 (GRCm39) missense probably benign 0.04
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
Predicted Primers PCR Primer
(F):5'- CCAACATGGAGACTCAATGCAG -3'
(R):5'- CGTACCACCCAAATTGGTCG -3'

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