Incidental Mutation 'IGL02267:Serinc1'
ID286920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serinc1
Ensembl Gene ENSMUSG00000019877
Gene Nameserine incorporator 1
SynonymsTde2, TMS-2, Tde1l, 1500011D18Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.331) question?
Stock #IGL02267
Quality Score
Status
Chromosome10
Chromosomal Location57515774-57532530 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 57523108 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 196 (I196N)
Ref Sequence ENSEMBL: ENSMUSP00000126561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020027] [ENSMUST00000169122] [ENSMUST00000170062]
Predicted Effect probably damaging
Transcript: ENSMUST00000020027
AA Change: I233N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020027
Gene: ENSMUSG00000019877
AA Change: I233N

DomainStartEndE-ValueType
Pfam:Serinc 16 451 9.5e-178 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166997
Predicted Effect probably damaging
Transcript: ENSMUST00000169122
AA Change: I196N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126561
Gene: ENSMUSG00000019877
AA Change: I196N

DomainStartEndE-ValueType
Pfam:Serinc 15 152 1.9e-50 PFAM
Pfam:Serinc 149 220 6.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170062
SMART Domains Protein: ENSMUSP00000127041
Gene: ENSMUSG00000019877

DomainStartEndE-ValueType
Pfam:Serinc 15 113 9.1e-31 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male homozygous mutant mice exhibited signs of growth retardation including decreased mean body weight and length total tissue mass and lean body mass. No other notable phenotype was observed for the homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,792,678 Q929R probably benign Het
Aplf A T 6: 87,658,964 D122E probably damaging Het
Atp2a3 T A 11: 72,987,984 L874Q probably damaging Het
Atp2b2 A T 6: 113,793,730 L406Q probably damaging Het
Atp6v1b1 A G 6: 83,756,909 D374G probably benign Het
Bcas1 T A 2: 170,378,788 R239* probably null Het
Bhmt2 A G 13: 93,669,346 V56A probably damaging Het
Cage1 T C 13: 38,023,257 E204G probably damaging Het
Ccdc157 G A 11: 4,144,035 A532V probably benign Het
Cd300lb G A 11: 114,928,477 R109* probably null Het
Clca4c-ps T C 3: 144,879,755 noncoding transcript Het
Ctnna3 G T 10: 64,945,998 V747F probably benign Het
Cyp2c29 A T 19: 39,330,422 I488F probably benign Het
Cyp3a25 T C 5: 145,998,552 M85V possibly damaging Het
Dnah7b T A 1: 46,226,930 Y2220N probably damaging Het
Espl1 A G 15: 102,315,664 I1217V probably benign Het
Exoc2 A G 13: 30,815,321 S918P probably benign Het
Fer1l4 T A 2: 156,031,252 I1303F possibly damaging Het
Gm28047 A T 15: 102,547,227 I234K probably damaging Het
Gm4951 T G 18: 60,246,398 V335G probably damaging Het
Gpcpd1 A G 2: 132,568,710 V19A probably damaging Het
Gprin3 A G 6: 59,354,473 V283A probably benign Het
Grb14 A G 2: 64,953,616 Y56H probably damaging Het
Greb1 A G 12: 16,717,208 F331S probably benign Het
Jkamp A G 12: 72,094,817 Y198C probably damaging Het
Klk1b11 G T 7: 43,999,741 C234F probably damaging Het
Nacad T C 11: 6,602,649 T181A probably benign Het
Olfr165 A T 16: 19,407,164 L285Q possibly damaging Het
Olfr382 A G 11: 73,516,549 S217P probably benign Het
Olfr987 T A 2: 85,331,121 Y259F probably damaging Het
Pitpnm3 A T 11: 72,071,448 I227N probably benign Het
Pnn A G 12: 59,070,209 E189G probably damaging Het
Pnpla2 C A 7: 141,458,209 P197T probably damaging Het
Pnpla6 A G 8: 3,517,327 T62A probably benign Het
Ptprq G T 10: 107,646,558 D1051E probably damaging Het
Rag2 C T 2: 101,630,031 R229C probably damaging Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc26a9 T C 1: 131,752,845 C43R probably damaging Het
Slc2a3 A T 6: 122,739,972 Y44N probably benign Het
Smad5 T G 13: 56,735,790 probably benign Het
Sugct C A 13: 17,644,865 V132F possibly damaging Het
Supt6 T C 11: 78,226,204 E568G possibly damaging Het
Tfpt T C 7: 3,628,983 T43A probably damaging Het
Timp4 A T 6: 115,247,279 V143E possibly damaging Het
Tns1 T C 1: 73,992,131 D275G possibly damaging Het
Trib1 A G 15: 59,651,600 E161G probably damaging Het
Trpc7 A T 13: 56,860,930 L308Q probably damaging Het
Ush1c A T 7: 46,209,298 V522E possibly damaging Het
Usp28 T C 9: 49,023,965 V449A probably damaging Het
Vmn1r82 A G 7: 12,305,346 Y64C probably damaging Het
Wwox G A 8: 114,712,065 M290I probably benign Het
Other mutations in Serinc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02600:Serinc1 APN 10 57523031 missense probably benign 0.23
IGL02666:Serinc1 APN 10 57523993 splice site probably null
IGL02829:Serinc1 APN 10 57523965 nonsense probably null
IGL03109:Serinc1 APN 10 57523069 missense probably benign 0.22
Olive UTSW 10 57517210 missense probably damaging 1.00
ANU74:Serinc1 UTSW 10 57519842 missense probably benign 0.00
R0254:Serinc1 UTSW 10 57523208 missense probably damaging 0.99
R0453:Serinc1 UTSW 10 57517210 missense probably damaging 1.00
R0845:Serinc1 UTSW 10 57525383 missense probably benign 0.39
R1912:Serinc1 UTSW 10 57525451 missense probably benign 0.05
R1913:Serinc1 UTSW 10 57519465 missense probably benign 0.01
R4820:Serinc1 UTSW 10 57525370 missense possibly damaging 0.89
R4947:Serinc1 UTSW 10 57523045 missense probably damaging 0.99
R5299:Serinc1 UTSW 10 57523051 missense probably damaging 0.99
R5562:Serinc1 UTSW 10 57524051 nonsense probably null
R5589:Serinc1 UTSW 10 57523166 missense probably benign 0.01
R7182:Serinc1 UTSW 10 57524361 missense probably benign 0.00
R7723:Serinc1 UTSW 10 57527822 missense probably benign 0.08
Z1177:Serinc1 UTSW 10 57523010 missense probably benign 0.01
Posted On2015-04-16