Incidental Mutation 'IGL00913:Serinc2'
ID 27229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serinc2
Ensembl Gene ENSMUSG00000023232
Gene Name serine incorporator 2
Synonyms Tde2l, 2310004K20Rik, FKSG84, TDE2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL00913
Quality Score
Status
Chromosome 4
Chromosomal Location 130147289-130172993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130158201 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8K0E7
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: 42,977,793 (GRCm39) S517P possibly damaging Het
Arl4c T C 1: 88,629,106 (GRCm39) D94G probably damaging Het
Bag5 T C 12: 111,677,766 (GRCm39) E19G probably damaging Het
Carf T A 1: 60,187,114 (GRCm39) D537E probably benign Het
Cd177 C A 7: 24,455,620 (GRCm39) D301Y probably damaging Het
Csmd1 C T 8: 16,121,301 (GRCm39) V1799I probably benign Het
Cyp4x1 T A 4: 114,970,060 (GRCm39) I356F probably benign Het
F5 A T 1: 164,032,465 (GRCm39) H1804L probably damaging Het
Fras1 G T 5: 96,842,935 (GRCm39) G1718C probably damaging Het
Ganc T C 2: 120,269,933 (GRCm39) probably benign Het
Hs3st5 A G 10: 36,708,846 (GRCm39) D127G probably damaging Het
Inpp5a A G 7: 139,096,637 (GRCm39) D154G probably benign Het
Kif16b T A 2: 142,545,927 (GRCm39) R1134* probably null Het
Lrrc66 C T 5: 73,765,499 (GRCm39) A515T possibly damaging Het
Map3k10 C T 7: 27,362,640 (GRCm39) probably benign Het
Mideas T A 12: 84,219,632 (GRCm39) I441L probably benign Het
Mrpl12 G A 11: 120,376,202 (GRCm39) D71N possibly damaging Het
Nfix A T 8: 85,453,106 (GRCm39) V316E probably damaging Het
Nop2 A G 6: 125,116,784 (GRCm39) Y346C probably damaging Het
Nrbp1 A G 5: 31,408,403 (GRCm39) E513G possibly damaging Het
Ogfrl1 T C 1: 23,409,171 (GRCm39) I352V probably benign Het
Or7a35 A G 10: 78,854,085 (GRCm39) T310A probably benign Het
Or8b48 T A 9: 38,492,672 (GRCm39) V33E probably damaging Het
Oxr1 G A 15: 41,683,539 (GRCm39) V15I possibly damaging Het
Pik3r6 T G 11: 68,442,147 (GRCm39) F697C probably damaging Het
Ptk2 A G 15: 73,167,238 (GRCm39) probably benign Het
Rnft2 G A 5: 118,339,280 (GRCm39) T380M probably damaging Het
Scel A G 14: 103,819,245 (GRCm39) N346S probably benign Het
Sema4a T A 3: 88,357,117 (GRCm39) T153S probably damaging Het
Sin3a A G 9: 57,005,402 (GRCm39) T392A probably benign Het
Slc25a38 T A 9: 119,949,373 (GRCm39) Y108* probably null Het
Tmc8 G A 11: 117,677,330 (GRCm39) G317R probably damaging Het
Trpc3 A G 3: 36,694,788 (GRCm39) V722A possibly damaging Het
Unc93a2 A T 17: 7,637,138 (GRCm39) V130D probably damaging Het
Other mutations in Serinc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02031:Serinc2 APN 4 130,158,237 (GRCm39) nonsense probably null
IGL02551:Serinc2 APN 4 130,154,567 (GRCm39) missense probably benign 0.01
R1455:Serinc2 UTSW 4 130,158,133 (GRCm39) missense probably damaging 0.96
R1520:Serinc2 UTSW 4 130,154,543 (GRCm39) missense probably benign 0.00
R2059:Serinc2 UTSW 4 130,154,578 (GRCm39) missense probably damaging 1.00
R2869:Serinc2 UTSW 4 130,159,005 (GRCm39) missense probably damaging 1.00
R2869:Serinc2 UTSW 4 130,159,005 (GRCm39) missense probably damaging 1.00
R3160:Serinc2 UTSW 4 130,154,528 (GRCm39) missense probably benign
R3162:Serinc2 UTSW 4 130,154,528 (GRCm39) missense probably benign
R4497:Serinc2 UTSW 4 130,147,847 (GRCm39) missense possibly damaging 0.67
R4735:Serinc2 UTSW 4 130,157,438 (GRCm39) missense probably benign 0.13
R4987:Serinc2 UTSW 4 130,156,820 (GRCm39) splice site probably null
R5569:Serinc2 UTSW 4 130,172,272 (GRCm39) missense probably benign 0.17
R5681:Serinc2 UTSW 4 130,158,869 (GRCm39) missense probably damaging 1.00
R5946:Serinc2 UTSW 4 130,149,314 (GRCm39) missense possibly damaging 0.91
R6556:Serinc2 UTSW 4 130,152,064 (GRCm39) missense probably damaging 1.00
R6898:Serinc2 UTSW 4 130,149,235 (GRCm39) missense probably benign 0.13
R7264:Serinc2 UTSW 4 130,152,052 (GRCm39) missense probably benign 0.00
R7526:Serinc2 UTSW 4 130,152,583 (GRCm39) missense probably benign 0.03
R7835:Serinc2 UTSW 4 130,169,280 (GRCm39) missense unknown
R8744:Serinc2 UTSW 4 130,158,988 (GRCm39) start gained probably benign
R8819:Serinc2 UTSW 4 130,149,172 (GRCm39) missense probably damaging 1.00
R8820:Serinc2 UTSW 4 130,149,172 (GRCm39) missense probably damaging 1.00
R9335:Serinc2 UTSW 4 130,158,220 (GRCm39) missense probably benign 0.01
R9419:Serinc2 UTSW 4 130,149,315 (GRCm39) missense probably damaging 0.99
R9542:Serinc2 UTSW 4 130,152,516 (GRCm39) nonsense probably null
R9688:Serinc2 UTSW 4 130,158,133 (GRCm39) missense probably damaging 0.96
Z1176:Serinc2 UTSW 4 130,147,788 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17