Incidental Mutation 'IGL00913:Serinc2'
ID27229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serinc2
Ensembl Gene ENSMUSG00000023232
Gene Nameserine incorporator 2
SynonymsFKSG84, 2310004K20Rik, TDE2, Tde2l
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL00913
Quality Score
Status
Chromosome4
Chromosomal Location130253495-130279205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 130264408 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 82 (L82Q)
Ref Sequence ENSEMBL: ENSMUSP00000101618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105996] [ENSMUST00000120126] [ENSMUST00000122374] [ENSMUST00000146478] [ENSMUST00000154846]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105996
AA Change: L82Q

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101618
Gene: ENSMUSG00000023232
AA Change: L82Q

DomainStartEndE-ValueType
Pfam:Serinc 15 449 4.1e-162 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120126
AA Change: L91Q

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113044
Gene: ENSMUSG00000023232
AA Change: L91Q

DomainStartEndE-ValueType
Pfam:Serinc 25 457 1.4e-158 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122374
AA Change: L27Q

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112535
Gene: ENSMUSG00000023232
AA Change: L27Q

DomainStartEndE-ValueType
Pfam:Serinc 1 394 2.9e-148 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000146478
AA Change: L27Q

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115198
Gene: ENSMUSG00000023232
AA Change: L27Q

DomainStartEndE-ValueType
Pfam:Serinc 1 148 1.9e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000154846
AA Change: L27Q

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116586
Gene: ENSMUSG00000023232
AA Change: L27Q

DomainStartEndE-ValueType
Pfam:Serinc 1 82 3.3e-26 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 A G 17: 42,666,902 S517P possibly damaging Het
Arl4c T C 1: 88,701,384 D94G probably damaging Het
Bag5 T C 12: 111,711,332 E19G probably damaging Het
Carf T A 1: 60,147,955 D537E probably benign Het
Cd177 C A 7: 24,756,195 D301Y probably damaging Het
Csmd1 C T 8: 16,071,287 V1799I probably benign Het
Cyp4x1 T A 4: 115,112,863 I356F probably benign Het
Elmsan1 T A 12: 84,172,858 I441L probably benign Het
F5 A T 1: 164,204,896 H1804L probably damaging Het
Fras1 G T 5: 96,695,076 G1718C probably damaging Het
Ganc T C 2: 120,439,452 probably benign Het
Gm9992 A T 17: 7,369,739 V130D probably damaging Het
Hs3st5 A G 10: 36,832,850 D127G probably damaging Het
Inpp5a A G 7: 139,516,721 D154G probably benign Het
Kif16b T A 2: 142,704,007 R1134* probably null Het
Lrrc66 C T 5: 73,608,156 A515T possibly damaging Het
Map3k10 C T 7: 27,663,215 probably benign Het
Mrpl12 G A 11: 120,485,376 D71N possibly damaging Het
Nfix A T 8: 84,726,477 V316E probably damaging Het
Nop2 A G 6: 125,139,821 Y346C probably damaging Het
Nrbp1 A G 5: 31,251,059 E513G possibly damaging Het
Ogfrl1 T C 1: 23,370,090 I352V probably benign Het
Olfr1351 A G 10: 79,018,251 T310A probably benign Het
Olfr912 T A 9: 38,581,376 V33E probably damaging Het
Oxr1 G A 15: 41,820,143 V15I possibly damaging Het
Pik3r6 T G 11: 68,551,321 F697C probably damaging Het
Ptk2 A G 15: 73,295,389 probably benign Het
Rnft2 G A 5: 118,201,215 T380M probably damaging Het
Scel A G 14: 103,581,809 N346S probably benign Het
Sema4a T A 3: 88,449,810 T153S probably damaging Het
Sin3a A G 9: 57,098,118 T392A probably benign Het
Slc25a38 T A 9: 120,120,307 Y108* probably null Het
Tmc8 G A 11: 117,786,504 G317R probably damaging Het
Trpc3 A G 3: 36,640,639 V722A possibly damaging Het
Other mutations in Serinc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02031:Serinc2 APN 4 130264444 nonsense probably null
IGL02551:Serinc2 APN 4 130260774 missense probably benign 0.01
R1455:Serinc2 UTSW 4 130264340 missense probably damaging 0.96
R1520:Serinc2 UTSW 4 130260750 missense probably benign 0.00
R2059:Serinc2 UTSW 4 130260785 missense probably damaging 1.00
R2869:Serinc2 UTSW 4 130265212 missense probably damaging 1.00
R2869:Serinc2 UTSW 4 130265212 missense probably damaging 1.00
R3160:Serinc2 UTSW 4 130260735 missense probably benign
R3162:Serinc2 UTSW 4 130260735 missense probably benign
R4497:Serinc2 UTSW 4 130254054 missense possibly damaging 0.67
R4735:Serinc2 UTSW 4 130263645 missense probably benign 0.13
R4987:Serinc2 UTSW 4 130263027 splice site probably null
R5569:Serinc2 UTSW 4 130278479 missense probably benign 0.17
R5681:Serinc2 UTSW 4 130265076 missense probably damaging 1.00
R5946:Serinc2 UTSW 4 130255521 missense possibly damaging 0.91
R6556:Serinc2 UTSW 4 130258271 missense probably damaging 1.00
R6898:Serinc2 UTSW 4 130255442 missense probably benign 0.13
R7264:Serinc2 UTSW 4 130258259 missense probably benign 0.00
R7526:Serinc2 UTSW 4 130258790 missense probably benign 0.03
R7835:Serinc2 UTSW 4 130275487 missense unknown
Z1176:Serinc2 UTSW 4 130253995 missense probably damaging 1.00
Posted On2013-04-17