Incidental Mutation 'R8003:Psg22'
List |< first << previous [record 36 of 52] next >> last >|
ID616453
Institutional Source Beutler Lab
Gene Symbol Psg22
Ensembl Gene ENSMUSG00000044903
Gene Namepregnancy-specific glycoprotein 22
Synonymscea9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #R8003 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location18718090-18727248 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 18724425 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 347 (Y347S)
Ref Sequence ENSEMBL: ENSMUSP00000104121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051973] [ENSMUST00000108481] [ENSMUST00000208221]
Predicted Effect probably damaging
Transcript: ENSMUST00000051973
AA Change: Y308S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050633
Gene: ENSMUSG00000044903
AA Change: Y308S

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
IG 40 141 7.59e-4 SMART
IG 160 261 1.13e-2 SMART
IG 280 381 3.74e-3 SMART
IGc2 397 461 7.35e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108481
AA Change: Y347S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104121
Gene: ENSMUSG00000044903
AA Change: Y347S

DomainStartEndE-ValueType
low complexity region 58 69 N/A INTRINSIC
IG 79 180 7.59e-4 SMART
IG 199 300 1.13e-2 SMART
IG 319 420 3.74e-3 SMART
IGc2 436 500 7.35e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000208221
AA Change: Y308S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A G 14: 55,781,635 V155A probably benign Het
Arfgef2 A G 2: 166,853,288 Y527C probably damaging Het
B020004J07Rik T C 4: 101,835,933 K290R probably benign Het
Brca1 C T 11: 101,524,477 G944R probably benign Het
C2cd2 A G 16: 97,886,086 probably null Het
Cass4 T C 2: 172,427,959 F654L unknown Het
Ccdc178 A T 18: 21,844,887 probably null Het
Cct4 T C 11: 22,996,040 probably null Het
Cish T C 9: 107,297,028 V5A possibly damaging Het
Col6a3 G T 1: 90,775,733 N3037K unknown Het
Csmd2 T A 4: 128,539,187 C3012* probably null Het
Dclk2 T C 3: 86,793,301 probably null Het
Dhx38 A T 8: 109,556,140 D631E probably damaging Het
Eif2ak2 C A 17: 78,876,223 A66S probably damaging Het
Ephx2 A G 14: 66,124,333 probably null Het
Fbxw10 T G 11: 62,857,761 C405G possibly damaging Het
Galnt13 G T 2: 55,060,485 G393* probably null Het
Gm5591 G T 7: 38,519,759 H563Q probably damaging Het
Gtf3c5 A G 2: 28,569,361 I394T probably benign Het
Hectd4 G A 5: 121,339,518 A2835T possibly damaging Het
Herc2 A G 7: 56,168,904 D2781G possibly damaging Het
Kmt2b G T 7: 30,569,377 H2642Q probably damaging Het
Lars A T 18: 42,221,619 D754E probably damaging Het
Lrpprc A C 17: 84,752,317 S690A probably benign Het
Map3k6 A G 4: 133,248,882 T805A probably benign Het
Mthfd1l T G 10: 3,984,147 S160A probably benign Het
Mtmr6 G A 14: 60,282,095 probably null Het
Mybpc2 A T 7: 44,509,064 M698K probably damaging Het
Myh8 T A 11: 67,299,760 L1304M probably damaging Het
Mylip T A 13: 45,404,471 V117E probably benign Het
Npc1l1 T C 11: 6,215,129 Q1061R probably benign Het
Olfr1148 A G 2: 87,833,737 R233G probably benign Het
Olfr1164 A T 2: 88,093,245 Y230* probably null Het
Pkd2l2 G A 18: 34,428,179 M413I probably damaging Het
Plch2 C T 4: 155,054,523 G19D unknown Het
Ptpre C A 7: 135,669,036 Q314K probably damaging Het
Rgs6 T C 12: 82,985,370 S54P probably damaging Het
Sbds C A 5: 130,250,885 V130F possibly damaging Het
Slc1a7 G A 4: 108,012,276 V513M probably benign Het
Slc24a2 A T 4: 87,176,315 D322E probably benign Het
Slc45a4 G T 15: 73,585,313 Y585* probably null Het
Slc7a4 A C 16: 17,574,451 V373G possibly damaging Het
Sulf1 G A 1: 12,838,601 V613M probably damaging Het
Syt1 T C 10: 108,636,573 D150G probably damaging Het
Tnpo3 C A 6: 29,551,901 V888F probably benign Het
Trim9 T C 12: 70,346,834 H112R probably benign Het
Vmn2r80 T C 10: 79,148,877 I21T probably benign Het
Wdr41 C A 13: 95,013,146 A286E possibly damaging Het
Wnt8b T A 19: 44,511,957 C328S probably damaging Het
Ybx3 A T 6: 131,368,437 Y324* probably null Het
Zmynd15 T A 11: 70,460,941 H124Q probably benign Het
Other mutations in Psg22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00797:Psg22 APN 7 18718275 missense probably benign 0.00
IGL00839:Psg22 APN 7 18722968 missense probably benign 0.01
IGL00898:Psg22 APN 7 18724467 missense probably damaging 1.00
IGL02262:Psg22 APN 7 18724571 missense probably damaging 0.98
IGL02678:Psg22 APN 7 18719493 missense probably damaging 0.99
IGL02749:Psg22 APN 7 18723019 missense possibly damaging 0.50
IGL02928:Psg22 APN 7 18719533 missense probably damaging 0.98
IGL02977:Psg22 APN 7 18719599 missense probably benign 0.20
R0470:Psg22 UTSW 7 18719664 missense probably damaging 0.99
R1902:Psg22 UTSW 7 18724438 nonsense probably null
R1935:Psg22 UTSW 7 18719710 missense probably damaging 0.99
R1936:Psg22 UTSW 7 18719710 missense probably damaging 0.99
R2013:Psg22 UTSW 7 18719635 missense possibly damaging 0.93
R2278:Psg22 UTSW 7 18726837 missense possibly damaging 0.80
R4258:Psg22 UTSW 7 18724629 missense probably damaging 1.00
R5029:Psg22 UTSW 7 18719737 missense probably damaging 1.00
R5885:Psg22 UTSW 7 18718332 missense probably damaging 0.98
R6084:Psg22 UTSW 7 18719780 missense probably benign 0.01
R6143:Psg22 UTSW 7 18722798 missense probably benign 0.03
R6209:Psg22 UTSW 7 18719674 missense probably damaging 1.00
R7017:Psg22 UTSW 7 18724441 missense probably benign 0.01
R7337:Psg22 UTSW 7 18719574 missense probably benign 0.20
R7417:Psg22 UTSW 7 18722966 missense probably damaging 1.00
R7460:Psg22 UTSW 7 18724404 missense probably benign 0.03
R7570:Psg22 UTSW 7 18722735 missense possibly damaging 0.95
R7650:Psg22 UTSW 7 18726759 missense possibly damaging 0.66
R7711:Psg22 UTSW 7 18718342 critical splice donor site probably null
R8001:Psg22 UTSW 7 18719746 missense possibly damaging 0.79
R8066:Psg22 UTSW 7 18718293 missense possibly damaging 0.88
X0064:Psg22 UTSW 7 18718181 missense probably benign 0.01
Z1177:Psg22 UTSW 7 18719677 missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- GAGCACAATGATCCCATGTGATG -3'
(R):5'- TCACATTGACTTGCACATGGG -3'

Sequencing Primer
(F):5'- ATGTGATGGTTTTTCTCCTTTCC -3'
(R):5'- GCACATGGGCTGTTTCAAC -3'
Posted On2020-01-23