Incidental Mutation 'R8491:Psg16'
ID 657991
Institutional Source Beutler Lab
Gene Symbol Psg16
Ensembl Gene ENSMUSG00000066760
Gene Name pregnancy specific beta-1-glycoprotein 16
Synonyms bCEA, Cea11
MMRRC Submission 067933-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8491 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 16807965-16867375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16824437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 74 (Y74H)
Ref Sequence ENSEMBL: ENSMUSP00000118977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071399] [ENSMUST00000118367] [ENSMUST00000152671]
AlphaFold Q8K0U8
Predicted Effect probably benign
Transcript: ENSMUST00000071399
SMART Domains Protein: ENSMUSP00000071348
Gene: ENSMUSG00000066760

DomainStartEndE-ValueType
IG_like 6 52 1.42e2 SMART
IG 71 172 1.21e-2 SMART
IG 191 292 2.56e-1 SMART
IG_like 302 395 5.13e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118367
SMART Domains Protein: ENSMUSP00000113025
Gene: ENSMUSG00000066760

DomainStartEndE-ValueType
IG_like 6 52 1.42e2 SMART
IG 71 172 1.21e-2 SMART
IG 191 292 2.56e-1 SMART
IGc2 308 372 3.56e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152671
AA Change: Y74H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118977
Gene: ENSMUSG00000066760
AA Change: Y74H

DomainStartEndE-ValueType
low complexity region 24 40 N/A INTRINSIC
IG 46 143 4.29e-3 SMART
IG 162 261 2.94e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aard A T 15: 51,903,708 (GRCm39) I44F unknown Het
Agap1 A G 1: 89,537,294 (GRCm39) E100G probably damaging Het
Aoc3 G T 11: 101,223,042 (GRCm39) R426L probably benign Het
Aspm T G 1: 139,385,433 (GRCm39) L359R probably damaging Het
Atp8b2 A G 3: 89,865,676 (GRCm39) S75P probably damaging Het
Bcl9l A G 9: 44,412,065 (GRCm39) E17G probably benign Het
Casc3 G T 11: 98,713,977 (GRCm39) R403L probably benign Het
Cdh16 T C 8: 105,343,681 (GRCm39) D605G probably damaging Het
Cdh2 A G 18: 16,757,775 (GRCm39) probably null Het
Cers5 T A 15: 99,638,831 (GRCm39) K161N probably damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cntnap3 A T 13: 64,933,157 (GRCm39) D454E probably damaging Het
Cxcl15 T A 5: 90,943,089 (GRCm39) C30* probably null Het
Cyp4a12a C A 4: 115,158,650 (GRCm39) probably null Het
Dlc1 A T 8: 37,052,000 (GRCm39) I577N probably benign Het
Dusp6 C A 10: 99,102,081 (GRCm39) R210S possibly damaging Het
Faxc T A 4: 21,993,319 (GRCm39) M321K probably damaging Het
Fez2 C A 17: 78,692,200 (GRCm39) V340L probably benign Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gdnf A G 15: 7,864,272 (GRCm39) I228V possibly damaging Het
Gm12258 A G 11: 58,745,122 (GRCm39) T18A Het
Gm5460 T C 14: 33,761,740 (GRCm39) L194P probably damaging Het
Gm6040 T G 8: 21,407,135 (GRCm39) R28S possibly damaging Het
Gmps A G 3: 63,921,779 (GRCm39) E594G probably benign Het
Hspg2 T C 4: 137,281,030 (GRCm39) V3334A probably benign Het
Idh3a T C 9: 54,506,963 (GRCm39) probably null Het
Ins1 A G 19: 52,252,808 (GRCm39) probably benign Het
Mug1 A T 6: 121,859,688 (GRCm39) D1229V probably damaging Het
Ndufs1 T C 1: 63,196,384 (GRCm39) D347G probably damaging Het
Or52d3 G A 7: 104,229,242 (GRCm39) V130I probably damaging Het
Or8k25 A G 2: 86,244,099 (GRCm39) I99T probably benign Het
Pclo C A 5: 14,565,244 (GRCm39) N3K unknown Het
Pigl A G 11: 62,364,293 (GRCm39) R112G probably null Het
Prkcq T C 2: 11,284,335 (GRCm39) Y502H probably damaging Het
Psme4 G A 11: 30,722,161 (GRCm39) G60D possibly damaging Het
Rpp14 A T 14: 8,083,925 (GRCm38) Q27L possibly damaging Het
Serpini2 A C 3: 75,159,822 (GRCm39) C315G probably damaging Het
Slitrk3 A G 3: 72,958,592 (GRCm39) I60T possibly damaging Het
Svil T C 18: 5,106,678 (GRCm39) Y1436H probably damaging Het
Tmem245 T C 4: 56,906,261 (GRCm39) Q548R probably benign Het
Tob1 A G 11: 94,105,115 (GRCm39) D217G probably benign Het
Trim21 A C 7: 102,208,689 (GRCm39) D343E probably benign Het
Triobp C T 15: 78,878,326 (GRCm39) H1750Y possibly damaging Het
Trmt13 T C 3: 116,376,228 (GRCm39) R388G probably benign Het
Ubqlnl A G 7: 103,798,582 (GRCm39) V305A probably benign Het
Ushbp1 A G 8: 71,845,041 (GRCm39) V244A probably benign Het
Vdac2 T A 14: 21,887,838 (GRCm39) N60K possibly damaging Het
Vwa5a A G 9: 38,652,476 (GRCm39) E753G probably damaging Het
Washc4 A G 10: 83,411,987 (GRCm39) D706G probably benign Het
Zbtb5 T C 4: 44,995,090 (GRCm39) D98G probably damaging Het
Zfp53 A G 17: 21,729,621 (GRCm39) I551M probably benign Het
Zfp958 G T 8: 4,676,215 (GRCm39) R61I probably damaging Het
Other mutations in Psg16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01993:Psg16 APN 7 16,827,631 (GRCm39) missense probably benign 0.08
IGL02258:Psg16 APN 7 16,829,217 (GRCm39) missense probably damaging 1.00
R0379:Psg16 UTSW 7 16,864,583 (GRCm39) missense probably benign 0.09
R0389:Psg16 UTSW 7 16,829,088 (GRCm39) missense probably benign
R0443:Psg16 UTSW 7 16,829,088 (GRCm39) missense probably benign
R1231:Psg16 UTSW 7 16,829,230 (GRCm39) nonsense probably null
R1594:Psg16 UTSW 7 16,827,748 (GRCm39) missense probably damaging 1.00
R2064:Psg16 UTSW 7 16,827,673 (GRCm39) missense possibly damaging 0.91
R2118:Psg16 UTSW 7 16,824,548 (GRCm39) missense probably benign 0.33
R3806:Psg16 UTSW 7 16,824,609 (GRCm39) missense probably benign 0.24
R4397:Psg16 UTSW 7 16,824,623 (GRCm39) missense possibly damaging 0.68
R4583:Psg16 UTSW 7 16,829,097 (GRCm39) missense probably benign 0.01
R4685:Psg16 UTSW 7 16,824,459 (GRCm39) missense probably benign 0.00
R4929:Psg16 UTSW 7 16,829,031 (GRCm39) missense possibly damaging 0.79
R5310:Psg16 UTSW 7 16,824,560 (GRCm39) missense probably damaging 0.99
R6106:Psg16 UTSW 7 16,829,091 (GRCm39) missense possibly damaging 0.73
R6320:Psg16 UTSW 7 16,822,112 (GRCm39) missense probably damaging 1.00
R6702:Psg16 UTSW 7 16,824,321 (GRCm39) missense probably damaging 1.00
R6703:Psg16 UTSW 7 16,824,321 (GRCm39) missense probably damaging 1.00
R7329:Psg16 UTSW 7 16,824,611 (GRCm39) missense possibly damaging 0.86
R7679:Psg16 UTSW 7 16,827,685 (GRCm39) missense probably damaging 1.00
R8292:Psg16 UTSW 7 16,827,701 (GRCm39) missense probably damaging 0.99
R8372:Psg16 UTSW 7 16,829,240 (GRCm39) missense probably benign 0.10
R8796:Psg16 UTSW 7 16,827,814 (GRCm39) missense possibly damaging 0.90
R9131:Psg16 UTSW 7 16,832,024 (GRCm39) missense probably benign 0.00
R9437:Psg16 UTSW 7 16,827,715 (GRCm39) missense probably damaging 1.00
R9659:Psg16 UTSW 7 16,824,524 (GRCm39) missense possibly damaging 0.55
R9746:Psg16 UTSW 7 16,832,086 (GRCm39) missense probably benign 0.02
R9788:Psg16 UTSW 7 16,824,524 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- ACTTGCTCAATCTCAGTGGTTAC -3'
(R):5'- GCACCCAGAGTTTGCAAAGTATC -3'

Sequencing Primer
(F):5'- GCTCAATCTCAGTGGTTACTTTCTC -3'
(R):5'- TCACTTACTGTACACGTAGAGGAAC -3'
Posted On 2021-01-18