Incidental Mutation 'R7859:Psg28'
ID 607361
Institutional Source Beutler Lab
Gene Symbol Psg28
Ensembl Gene ENSMUSG00000030373
Gene Name pregnancy-specific beta-1-glycoprotein 28
Synonyms
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R7859 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 18156461-18165966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18160149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 349 (V349D)
Ref Sequence ENSEMBL: ENSMUSP00000019291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019291]
AlphaFold Q4KL66
Predicted Effect probably damaging
Transcript: ENSMUST00000019291
AA Change: V349D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019291
Gene: ENSMUSG00000030373
AA Change: V349D

DomainStartEndE-ValueType
IG 40 138 1.84e-2 SMART
IG 157 258 1.67e0 SMART
IG 277 376 1.65e-4 SMART
IGc2 394 458 8.31e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
Atxn10 A G 15: 85,346,526 (GRCm39) D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cd300a T C 11: 114,784,165 (GRCm39) Y58H probably benign Het
Cemip2 T A 19: 21,809,539 (GRCm39) I973N possibly damaging Het
Crkl T A 16: 17,286,960 (GRCm39) M172K probably damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Evi2a T C 11: 79,418,452 (GRCm39) S53G probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mcur1 G A 13: 43,713,485 (GRCm39) R40* probably null Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nkx2-2 A G 2: 147,019,730 (GRCm39) C236R unknown Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Slc43a1 T C 2: 84,687,220 (GRCm39) F374L possibly damaging Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Tpo T A 12: 30,150,573 (GRCm39) I436F probably damaging Het
Usp53 T C 3: 122,743,415 (GRCm39) H507R possibly damaging Het
Usp54 T C 14: 20,638,204 (GRCm39) E255G probably benign Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) probably benign Het
Other mutations in Psg28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Psg28 APN 7 18,161,816 (GRCm39) missense probably damaging 1.00
IGL01118:Psg28 APN 7 18,162,017 (GRCm39) missense probably damaging 1.00
IGL01606:Psg28 APN 7 18,164,296 (GRCm39) missense probably benign 0.01
R0276:Psg28 UTSW 7 18,164,321 (GRCm39) missense probably benign 0.00
R0391:Psg28 UTSW 7 18,160,098 (GRCm39) missense probably benign 0.02
R0713:Psg28 UTSW 7 18,156,999 (GRCm39) missense possibly damaging 0.61
R1454:Psg28 UTSW 7 18,161,889 (GRCm39) missense possibly damaging 0.50
R1725:Psg28 UTSW 7 18,161,936 (GRCm39) missense possibly damaging 0.67
R2176:Psg28 UTSW 7 18,161,804 (GRCm39) missense probably damaging 1.00
R3154:Psg28 UTSW 7 18,160,348 (GRCm39) missense possibly damaging 0.91
R4520:Psg28 UTSW 7 18,156,826 (GRCm39) missense probably benign 0.00
R5010:Psg28 UTSW 7 18,161,816 (GRCm39) missense probably damaging 1.00
R5529:Psg28 UTSW 7 18,164,373 (GRCm39) missense probably benign 0.15
R5772:Psg28 UTSW 7 18,164,640 (GRCm39) missense probably damaging 1.00
R6039:Psg28 UTSW 7 18,160,107 (GRCm39) missense possibly damaging 0.82
R6039:Psg28 UTSW 7 18,160,107 (GRCm39) missense possibly damaging 0.82
R6046:Psg28 UTSW 7 18,160,305 (GRCm39) missense probably damaging 1.00
R6275:Psg28 UTSW 7 18,164,365 (GRCm39) missense probably damaging 1.00
R6586:Psg28 UTSW 7 18,164,469 (GRCm39) missense probably damaging 0.99
R6928:Psg28 UTSW 7 18,157,003 (GRCm39) missense possibly damaging 0.80
R7197:Psg28 UTSW 7 18,164,509 (GRCm39) missense probably damaging 1.00
R7237:Psg28 UTSW 7 18,161,769 (GRCm39) missense possibly damaging 0.65
R7863:Psg28 UTSW 7 18,162,042 (GRCm39) missense possibly damaging 0.62
R7993:Psg28 UTSW 7 18,160,401 (GRCm39) missense possibly damaging 0.63
R8009:Psg28 UTSW 7 18,156,922 (GRCm39) missense probably damaging 0.96
R8115:Psg28 UTSW 7 18,164,311 (GRCm39) missense probably benign 0.15
R8247:Psg28 UTSW 7 18,156,864 (GRCm39) missense probably benign 0.01
R8984:Psg28 UTSW 7 18,156,981 (GRCm39) missense probably damaging 0.97
R9160:Psg28 UTSW 7 18,164,640 (GRCm39) missense probably damaging 1.00
R9266:Psg28 UTSW 7 18,161,752 (GRCm39) missense probably benign 0.01
R9336:Psg28 UTSW 7 18,156,905 (GRCm39) missense possibly damaging 0.67
R9758:Psg28 UTSW 7 18,164,602 (GRCm39) missense probably benign 0.18
R9758:Psg28 UTSW 7 18,156,887 (GRCm39) nonsense probably null
R9782:Psg28 UTSW 7 18,164,331 (GRCm39) missense probably benign 0.00
RF016:Psg28 UTSW 7 18,156,847 (GRCm39) missense probably damaging 0.97
X0020:Psg28 UTSW 7 18,161,864 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTTGGTACAGCCCATGTGTG -3'
(R):5'- AATCTGCCAGAAGGTCTGC -3'

Sequencing Primer
(F):5'- TGCCCAAATGACAATGTGATG -3'
(R):5'- CTGCAAACCTTTTCCTGGTACAAAGG -3'
Posted On 2019-12-20