Incidental Mutation 'IGL01993:Psg16'
ID 182054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psg16
Ensembl Gene ENSMUSG00000066760
Gene Name pregnancy specific beta-1-glycoprotein 16
Synonyms bCEA, Cea11
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01993
Quality Score
Status
Chromosome 7
Chromosomal Location 16807965-16867375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16827631 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8K0U8
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: 9,208,452 (GRCm39) probably benign Het
Acnat2 A T 4: 49,380,131 (GRCm39) S398T probably benign Het
Adgrb2 G T 4: 129,912,635 (GRCm39) E1296D possibly damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Anapc2 C A 2: 25,164,725 (GRCm39) D322E probably benign Het
Apobec1 A G 6: 122,565,138 (GRCm39) probably benign Het
Asic1 T C 15: 99,595,353 (GRCm39) V393A probably benign Het
Cfap65 A C 1: 74,959,702 (GRCm39) F816C probably damaging Het
Cfap69 A C 5: 5,631,284 (GRCm39) L914R probably damaging Het
Cgas A G 9: 78,349,802 (GRCm39) S187P probably benign Het
Cspg4 C T 9: 56,805,762 (GRCm39) T2191I probably benign Het
Cyp11a1 T A 9: 57,928,106 (GRCm39) I210N probably damaging Het
Dgkb T A 12: 38,032,009 (GRCm39) Y24N probably benign Het
Epc1 T C 18: 6,449,136 (GRCm39) T504A possibly damaging Het
Fam135a A T 1: 24,094,992 (GRCm39) D125E probably damaging Het
Fgd3 T C 13: 49,433,664 (GRCm39) H345R possibly damaging Het
Gm12253 T C 11: 58,325,379 (GRCm39) V17A probably damaging Het
Hars1 C T 18: 36,903,265 (GRCm39) G355D probably damaging Het
Hpgd A T 8: 56,772,097 (GRCm39) I190F probably benign Het
Ighv1-34 A T 12: 114,815,003 (GRCm39) M53K probably benign Het
Ildr2 A T 1: 166,096,939 (GRCm39) T53S possibly damaging Het
Ints5 T A 19: 8,872,829 (GRCm39) C263S probably benign Het
Lars2 T C 9: 123,224,008 (GRCm39) probably benign Het
Ldha G A 7: 46,504,524 (GRCm39) A349T possibly damaging Het
Map3k2 T A 18: 32,359,684 (GRCm39) C512* probably null Het
Parp4 G A 14: 56,848,245 (GRCm39) R687Q possibly damaging Het
Plk2 T C 13: 110,535,731 (GRCm39) S518P probably damaging Het
Prrc2b T G 2: 32,114,057 (GRCm39) V2036G possibly damaging Het
Psme3ip1 G T 8: 95,302,380 (GRCm39) A217D possibly damaging Het
Ranbp17 T C 11: 33,450,770 (GRCm39) T56A possibly damaging Het
Retsat T C 6: 72,581,978 (GRCm39) probably benign Het
Robo3 G T 9: 37,335,949 (GRCm39) L484I probably damaging Het
Septin4 G T 11: 87,458,555 (GRCm39) G310W possibly damaging Het
Slc17a6 T C 7: 51,317,705 (GRCm39) M446T possibly damaging Het
Slc38a1 G A 15: 96,521,927 (GRCm39) T11M probably damaging Het
Tmem138 T C 19: 10,548,952 (GRCm39) N106S probably benign Het
Traf1 G A 2: 34,836,879 (GRCm39) probably benign Het
Tspan8 T C 10: 115,675,913 (GRCm39) probably benign Het
Ubr5 T C 15: 37,973,256 (GRCm39) E2615G probably damaging Het
Vwde A G 6: 13,219,977 (GRCm39) I58T possibly damaging Het
Zc3h12c A G 9: 52,027,611 (GRCm39) S603P probably damaging Het
Zfp746 A T 6: 48,059,092 (GRCm39) S172R probably damaging Het
Other mutations in Psg16
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8491:Psg16 UTSW 7 16,824,437 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-05-07