Incidental Mutation 'IGL01993:Psg16'
ID182054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psg16
Ensembl Gene ENSMUSG00000066760
Gene Namepregnancy specific glycoprotein 16
SynonymsbCEA, Cea11
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01993
Quality Score
Status
Chromosome7
Chromosomal Location17074040-17133450 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17093706 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 196 (S196T)
Ref Sequence ENSEMBL: ENSMUSP00000118977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071399] [ENSMUST00000118367] [ENSMUST00000152671]
Predicted Effect probably benign
Transcript: ENSMUST00000071399
AA Change: S105T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000071348
Gene: ENSMUSG00000066760
AA Change: S105T

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
AA Change: S105T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113025
Gene: ENSMUSG00000066760
AA Change: S105T

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 noncoding transcript
Transcript: ENSMUST00000131153
Predicted Effect probably benign
Transcript: ENSMUST00000152671
AA Change: S196T

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118977
Gene: ENSMUSG00000066760
AA Change: S196T

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,258,452 probably benign Het
Acnat2 A T 4: 49,380,131 S398T probably benign Het
Adgrb2 G T 4: 130,018,842 E1296D possibly damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Anapc2 C A 2: 25,274,713 D322E probably benign Het
Apobec1 A G 6: 122,588,179 probably benign Het
Asic1 T C 15: 99,697,472 V393A probably benign Het
Cfap65 A C 1: 74,920,543 F816C probably damaging Het
Cfap69 A C 5: 5,581,284 L914R probably damaging Het
Cspg4 C T 9: 56,898,478 T2191I probably benign Het
Cyp11a1 T A 9: 58,020,823 I210N probably damaging Het
Dgkb T A 12: 37,982,010 Y24N probably benign Het
Epc1 T C 18: 6,449,136 T504A possibly damaging Het
Fam135a A T 1: 24,055,911 D125E probably damaging Het
Fam192a G T 8: 94,575,752 A217D possibly damaging Het
Fgd3 T C 13: 49,280,188 H345R possibly damaging Het
Gm11492 G T 11: 87,567,729 G310W possibly damaging Het
Gm12253 T C 11: 58,434,553 V17A probably damaging Het
Hars C T 18: 36,770,212 G355D probably damaging Het
Hpgd A T 8: 56,319,062 I190F probably benign Het
Ighv1-34 A T 12: 114,851,383 M53K probably benign Het
Ildr2 A T 1: 166,269,370 T53S possibly damaging Het
Ints5 T A 19: 8,895,465 C263S probably benign Het
Lars2 T C 9: 123,394,943 probably benign Het
Ldha G A 7: 46,855,100 A349T possibly damaging Het
Map3k2 T A 18: 32,226,631 C512* probably null Het
Mb21d1 A G 9: 78,442,520 S187P probably benign Het
Parp4 G A 14: 56,610,788 R687Q possibly damaging Het
Plk2 T C 13: 110,399,197 S518P probably damaging Het
Prrc2b T G 2: 32,224,045 V2036G possibly damaging Het
Ranbp17 T C 11: 33,500,770 T56A possibly damaging Het
Retsat T C 6: 72,604,995 probably benign Het
Robo3 G T 9: 37,424,653 L484I probably damaging Het
Slc17a6 T C 7: 51,667,957 M446T possibly damaging Het
Slc38a1 G A 15: 96,624,046 T11M probably damaging Het
Tmem138 T C 19: 10,571,588 N106S probably benign Het
Traf1 G A 2: 34,946,867 probably benign Het
Tspan8 T C 10: 115,840,008 probably benign Het
Ubr5 T C 15: 37,973,012 E2615G probably damaging Het
Vwde A G 6: 13,219,978 I58T possibly damaging Het
Zc3h12c A G 9: 52,116,311 S603P probably damaging Het
Zfp746 A T 6: 48,082,158 S172R probably damaging Het
Other mutations in Psg16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02258:Psg16 APN 7 17095292 missense probably damaging 1.00
R0379:Psg16 UTSW 7 17130658 missense probably benign 0.09
R0389:Psg16 UTSW 7 17095163 missense probably benign
R0443:Psg16 UTSW 7 17095163 missense probably benign
R1231:Psg16 UTSW 7 17095305 nonsense probably null
R1594:Psg16 UTSW 7 17093823 missense probably damaging 1.00
R2064:Psg16 UTSW 7 17093748 missense possibly damaging 0.91
R2118:Psg16 UTSW 7 17090623 missense probably benign 0.33
R3806:Psg16 UTSW 7 17090684 missense probably benign 0.24
R4397:Psg16 UTSW 7 17090698 missense possibly damaging 0.68
R4583:Psg16 UTSW 7 17095172 missense probably benign 0.01
R4685:Psg16 UTSW 7 17090534 missense probably benign 0.00
R4929:Psg16 UTSW 7 17095106 missense possibly damaging 0.79
R5310:Psg16 UTSW 7 17090635 missense probably damaging 0.99
R6106:Psg16 UTSW 7 17095166 missense possibly damaging 0.73
R6320:Psg16 UTSW 7 17088187 missense probably damaging 1.00
R6702:Psg16 UTSW 7 17090396 missense probably damaging 1.00
R6703:Psg16 UTSW 7 17090396 missense probably damaging 1.00
R7329:Psg16 UTSW 7 17090686 missense possibly damaging 0.86
Posted On2014-05-07