Incidental Mutation 'IGL00985:Serinc5'
ID 28907
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serinc5
Ensembl Gene ENSMUSG00000021703
Gene Name serine incorporator 5
Synonyms AIGP3, TPO1, A130038L21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL00985
Quality Score
Status
Chromosome 13
Chromosomal Location 92747646-92848455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92842779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 410 (T410A)
Ref Sequence ENSEMBL: ENSMUSP00000047547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049488]
AlphaFold Q8BHJ6
Predicted Effect probably damaging
Transcript: ENSMUST00000049488
AA Change: T410A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047547
Gene: ENSMUSG00000021703
AA Change: T410A

DomainStartEndE-ValueType
Pfam:Serinc 12 458 6.8e-155 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224458
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630091E08Rik G T 7: 98,193,125 (GRCm39) noncoding transcript Het
Abca15 G A 7: 119,996,241 (GRCm39) G1389E probably damaging Het
Adcy3 T C 12: 4,184,600 (GRCm39) V92A probably damaging Het
Aoc1l1 A G 6: 48,954,481 (GRCm39) S540G probably benign Het
Aplnr A T 2: 84,968,007 (GRCm39) Y344F probably benign Het
Atm A T 9: 53,371,116 (GRCm39) V2241E probably damaging Het
Cep290 T C 10: 100,403,023 (GRCm39) probably benign Het
Cnpy1 A T 5: 28,414,152 (GRCm39) Y91* probably null Het
Cobl C A 11: 12,204,843 (GRCm39) G613W probably damaging Het
Csn1s2a T C 5: 87,932,439 (GRCm39) S121P possibly damaging Het
Flg2 A T 3: 93,110,585 (GRCm39) Y871F unknown Het
Gapvd1 T A 2: 34,585,575 (GRCm39) D1008V probably damaging Het
Gask1a T C 9: 121,807,401 (GRCm39) L515P probably damaging Het
Igfl3 T C 7: 17,914,000 (GRCm39) probably null Het
Kmt2b A T 7: 30,279,352 (GRCm39) V1470E probably damaging Het
Mcc A T 18: 44,624,306 (GRCm39) L413Q probably damaging Het
Mia2 G A 12: 59,235,146 (GRCm39) G610D probably damaging Het
Mlst8 A T 17: 24,696,287 (GRCm39) D147E probably damaging Het
Muc19 G T 15: 91,770,943 (GRCm39) noncoding transcript Het
Mybpc3 A G 2: 90,965,704 (GRCm39) E1172G probably benign Het
Niban3 T C 8: 72,057,507 (GRCm39) probably benign Het
Nop14 A T 5: 34,802,133 (GRCm39) L557Q probably damaging Het
P3h3 T C 6: 124,822,552 (GRCm39) T540A probably benign Het
Phc3 T A 3: 30,968,346 (GRCm39) I897F probably benign Het
Plekhh2 G A 17: 84,871,356 (GRCm39) V205I probably benign Het
Poc5 A G 13: 96,547,254 (GRCm39) K506E probably damaging Het
Pum1 C A 4: 130,471,100 (GRCm39) T450K probably damaging Het
Retnlg G A 16: 48,694,688 (GRCm39) R112H possibly damaging Het
Rgl2 T C 17: 34,151,075 (GRCm39) V101A probably damaging Het
Shroom1 T C 11: 53,356,796 (GRCm39) V553A probably benign Het
Slco4c1 A T 1: 96,768,912 (GRCm39) W317R probably damaging Het
Snap91 T C 9: 86,703,790 (GRCm39) T268A probably benign Het
Supt16 T C 14: 52,399,148 (GRCm39) K1044E possibly damaging Het
Tarbp1 A T 8: 127,185,900 (GRCm39) L431I probably damaging Het
Tas2r124 C T 6: 132,732,492 (GRCm39) T267I probably benign Het
Tm7sf3 C T 6: 146,507,692 (GRCm39) V457I possibly damaging Het
Tmem132c A T 5: 127,581,930 (GRCm39) S382C probably damaging Het
Tmprss7 C A 16: 45,482,685 (GRCm39) C582F probably damaging Het
Tsc2 T C 17: 24,816,105 (GRCm39) E1694G probably damaging Het
Txndc2 G T 17: 65,945,544 (GRCm39) S211Y possibly damaging Het
Ubr3 A C 2: 69,833,775 (GRCm39) T205P probably damaging Het
Vmn2r116 G A 17: 23,620,489 (GRCm39) G741D probably damaging Het
Vps8 G A 16: 21,296,334 (GRCm39) probably benign Het
Wdr19 G A 5: 65,409,642 (GRCm39) D1127N probably benign Het
Zim1 T A 7: 6,685,759 (GRCm39) Y83F possibly damaging Het
Other mutations in Serinc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01954:Serinc5 APN 13 92,819,441 (GRCm39) missense probably damaging 1.00
IGL02248:Serinc5 APN 13 92,842,648 (GRCm39) missense probably damaging 1.00
IGL03259:Serinc5 APN 13 92,827,500 (GRCm39) missense probably damaging 1.00
R0352:Serinc5 UTSW 13 92,844,497 (GRCm39) splice site probably null
R0600:Serinc5 UTSW 13 92,844,565 (GRCm39) missense probably damaging 1.00
R0646:Serinc5 UTSW 13 92,825,245 (GRCm39) missense possibly damaging 0.82
R0944:Serinc5 UTSW 13 92,797,613 (GRCm39) missense probably damaging 1.00
R0972:Serinc5 UTSW 13 92,825,128 (GRCm39) missense probably benign 0.18
R1163:Serinc5 UTSW 13 92,819,285 (GRCm39) missense probably damaging 1.00
R1459:Serinc5 UTSW 13 92,797,695 (GRCm39) critical splice donor site probably null
R1703:Serinc5 UTSW 13 92,825,305 (GRCm39) missense probably damaging 0.99
R1866:Serinc5 UTSW 13 92,842,771 (GRCm39) missense probably damaging 0.99
R1887:Serinc5 UTSW 13 92,838,214 (GRCm39) missense possibly damaging 0.70
R3018:Serinc5 UTSW 13 92,825,189 (GRCm39) missense probably benign 0.01
R4863:Serinc5 UTSW 13 92,827,488 (GRCm39) missense probably damaging 1.00
R5694:Serinc5 UTSW 13 92,825,302 (GRCm39) missense probably benign 0.00
R5715:Serinc5 UTSW 13 92,842,710 (GRCm39) missense probably damaging 1.00
R5979:Serinc5 UTSW 13 92,797,644 (GRCm39) missense probably benign 0.01
R6228:Serinc5 UTSW 13 92,844,616 (GRCm39) missense probably damaging 1.00
R6270:Serinc5 UTSW 13 92,825,170 (GRCm39) missense probably damaging 0.97
R6592:Serinc5 UTSW 13 92,844,634 (GRCm39) missense possibly damaging 0.88
R6622:Serinc5 UTSW 13 92,825,194 (GRCm39) missense probably benign 0.05
R6787:Serinc5 UTSW 13 92,842,740 (GRCm39) missense possibly damaging 0.60
R7730:Serinc5 UTSW 13 92,821,698 (GRCm39) missense probably damaging 1.00
R7773:Serinc5 UTSW 13 92,797,592 (GRCm39) missense probably damaging 1.00
R7961:Serinc5 UTSW 13 92,797,699 (GRCm39) splice site probably null
R8009:Serinc5 UTSW 13 92,797,699 (GRCm39) splice site probably null
R8819:Serinc5 UTSW 13 92,844,544 (GRCm39) missense probably benign 0.02
R8820:Serinc5 UTSW 13 92,844,544 (GRCm39) missense probably benign 0.02
R9116:Serinc5 UTSW 13 92,797,514 (GRCm39) splice site probably benign
R9460:Serinc5 UTSW 13 92,844,619 (GRCm39) missense probably benign 0.03
R9460:Serinc5 UTSW 13 92,844,607 (GRCm39) missense possibly damaging 0.94
X0018:Serinc5 UTSW 13 92,797,583 (GRCm39) missense probably benign 0.02
Posted On 2013-04-17