Incidental Mutation 'IGL01954:Serinc5'
ID181365
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serinc5
Ensembl Gene ENSMUSG00000021703
Gene Nameserine incorporator 5
SynonymsTPO1, AIGP3, A130038L21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL01954
Quality Score
Status
Chromosome13
Chromosomal Location92611091-92711947 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92682933 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 125 (N125S)
Ref Sequence ENSEMBL: ENSMUSP00000047547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049488]
Predicted Effect probably damaging
Transcript: ENSMUST00000049488
AA Change: N125S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047547
Gene: ENSMUSG00000021703
AA Change: N125S

DomainStartEndE-ValueType
Pfam:Serinc 12 458 6.8e-155 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224250
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik T A 1: 93,152,072 D432V probably damaging Het
4931406P16Rik A T 7: 34,245,035 W91R probably damaging Het
Acsm3 T C 7: 119,775,083 probably benign Het
Ankrd26 T A 6: 118,559,005 Y156F possibly damaging Het
Bcr G A 10: 75,175,341 probably null Het
Cpn2 C T 16: 30,260,320 A188T probably benign Het
Ctdsp1 T C 1: 74,394,083 probably benign Het
Cts7 T A 13: 61,352,823 R303S probably benign Het
Dock7 T C 4: 99,083,151 D59G probably damaging Het
Gm436 A T 4: 144,670,171 D330E probably damaging Het
Gpr149 T C 3: 62,530,927 N603S probably benign Het
Gucy2g A G 19: 55,198,691 I1099T probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Ighv1-80 A T 12: 115,912,633 V21D probably benign Het
Klhl18 T C 9: 110,428,866 Y432C probably damaging Het
Lama4 A G 10: 39,087,299 D1289G probably benign Het
Mcm7 T C 5: 138,167,245 T466A probably damaging Het
Megf8 A G 7: 25,349,014 E1704G possibly damaging Het
Mettl25 C T 10: 105,823,207 C405Y probably damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Ndc1 T A 4: 107,395,804 I590N probably damaging Het
Npnt G T 3: 132,909,963 N137K probably damaging Het
Numa1 C T 7: 101,996,093 R309* probably null Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr110 C A 17: 37,498,649 probably benign Het
Olfr266 A G 3: 106,821,995 I188T possibly damaging Het
Pcdhb9 G T 18: 37,401,741 V263F probably damaging Het
Pld4 T C 12: 112,767,921 probably null Het
Ppp2r3c A G 12: 55,292,568 L170P probably damaging Het
Prex2 T A 1: 11,140,011 D558E possibly damaging Het
Rasal2 A G 1: 157,177,699 S227P possibly damaging Het
Rasal2 A T 1: 157,176,116 D324E probably damaging Het
Rcbtb1 A G 14: 59,229,967 Y418C probably damaging Het
Rhag T C 17: 40,828,450 F92S possibly damaging Het
Scel T C 14: 103,603,242 probably benign Het
Sgpl1 A T 10: 61,100,893 M561K probably benign Het
Sostdc1 T C 12: 36,317,122 V99A probably damaging Het
Them6 A G 15: 74,721,689 Y132C probably damaging Het
Vmn2r27 A T 6: 124,192,248 F641Y probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13c A G 9: 67,969,298 Y3384C probably damaging Het
Zbtb32 G T 7: 30,589,928 probably null Het
Other mutations in Serinc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Serinc5 APN 13 92706271 missense probably damaging 0.96
IGL02248:Serinc5 APN 13 92706140 missense probably damaging 1.00
IGL03259:Serinc5 APN 13 92690992 missense probably damaging 1.00
R0352:Serinc5 UTSW 13 92707989 splice site probably null
R0600:Serinc5 UTSW 13 92708057 missense probably damaging 1.00
R0646:Serinc5 UTSW 13 92688737 missense possibly damaging 0.82
R0944:Serinc5 UTSW 13 92661105 missense probably damaging 1.00
R0972:Serinc5 UTSW 13 92688620 missense probably benign 0.18
R1163:Serinc5 UTSW 13 92682777 missense probably damaging 1.00
R1459:Serinc5 UTSW 13 92661187 critical splice donor site probably null
R1703:Serinc5 UTSW 13 92688797 missense probably damaging 0.99
R1866:Serinc5 UTSW 13 92706263 missense probably damaging 0.99
R1887:Serinc5 UTSW 13 92701706 missense possibly damaging 0.70
R3018:Serinc5 UTSW 13 92688681 missense probably benign 0.01
R4863:Serinc5 UTSW 13 92690980 missense probably damaging 1.00
R5694:Serinc5 UTSW 13 92688794 missense probably benign 0.00
R5715:Serinc5 UTSW 13 92706202 missense probably damaging 1.00
R5979:Serinc5 UTSW 13 92661136 missense probably benign 0.01
R6228:Serinc5 UTSW 13 92708108 missense probably damaging 1.00
R6270:Serinc5 UTSW 13 92688662 missense probably damaging 0.97
R6592:Serinc5 UTSW 13 92708126 missense possibly damaging 0.88
R6622:Serinc5 UTSW 13 92688686 missense probably benign 0.05
R6787:Serinc5 UTSW 13 92706232 missense possibly damaging 0.60
X0018:Serinc5 UTSW 13 92661075 missense probably benign 0.02
Posted On2014-05-07