Incidental Mutation 'R5799:Slc35e2'
ID 447391
Institutional Source Beutler Lab
Gene Symbol Slc35e2
Ensembl Gene ENSMUSG00000042202
Gene Name solute carrier family 35, member E2
Synonyms A530082C11Rik
MMRRC Submission 043388-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5799 (G1)
Quality Score 222
Status Validated
Chromosome 4
Chromosomal Location 155685873-155707797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 155694483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 10 (P10L)
Ref Sequence ENSEMBL: ENSMUSP00000113189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043829] [ENSMUST00000105608] [ENSMUST00000115821] [ENSMUST00000118607]
AlphaFold Q8C811
Predicted Effect probably benign
Transcript: ENSMUST00000043829
AA Change: P10L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041449
Gene: ENSMUSG00000042202
AA Change: P10L

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 50 66 N/A INTRINSIC
Pfam:TPT 73 368 7.9e-93 PFAM
Pfam:UAA 74 371 1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105608
AA Change: P10L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101233
Gene: ENSMUSG00000042202
AA Change: P10L

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 50 66 N/A INTRINSIC
Pfam:UAA 75 375 6.9e-10 PFAM
Pfam:EamA 84 215 5.8e-8 PFAM
Pfam:TPT 224 369 3.8e-34 PFAM
Pfam:EamA 237 369 3.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115821
SMART Domains Protein: ENSMUSP00000111488
Gene: ENSMUSG00000073682

DomainStartEndE-ValueType
SCOP:d1l9ha_ 17 52 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118607
AA Change: P10L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113189
Gene: ENSMUSG00000042202
AA Change: P10L

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 50 66 N/A INTRINSIC
Pfam:UAA 75 375 6.9e-10 PFAM
Pfam:EamA 84 215 5.8e-8 PFAM
Pfam:TPT 224 369 3.8e-34 PFAM
Pfam:EamA 237 369 3.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151425
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 89% (51/57)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,668,908 (GRCm39) Q92* probably null Het
Accsl T C 2: 93,694,748 (GRCm39) probably null Het
Ahnak2 T C 12: 112,745,365 (GRCm39) probably benign Het
Alcam T C 16: 52,130,212 (GRCm39) D46G probably benign Het
Asap2 T C 12: 21,218,247 (GRCm39) S57P probably damaging Het
Atg14 A T 14: 47,784,752 (GRCm39) V314D possibly damaging Het
C230029F24Rik C T 1: 49,377,307 (GRCm39) noncoding transcript Het
Calcr A T 6: 3,707,592 (GRCm39) I236N probably benign Het
Cass4 G A 2: 172,258,107 (GRCm39) G35E probably damaging Het
Chmp6 T C 11: 119,807,517 (GRCm39) I120T probably benign Het
Col13a1 A G 10: 61,684,919 (GRCm39) probably benign Het
Cstdc4 T A 16: 36,004,631 (GRCm39) M1K probably null Het
Ddhd2 T A 8: 26,238,629 (GRCm39) L328F probably damaging Het
Defa40 T A 8: 21,740,359 (GRCm39) probably null Het
Dnmt3l A G 10: 77,887,860 (GRCm39) D123G possibly damaging Het
Eea1 T A 10: 95,838,810 (GRCm39) V287E possibly damaging Het
Efcc1 A G 6: 87,708,164 (GRCm39) N97S probably benign Het
Exd1 A G 2: 119,369,262 (GRCm39) S118P probably benign Het
Ext2 G T 2: 93,642,317 (GRCm39) T184K probably benign Het
Fam186a G A 15: 99,864,705 (GRCm39) Q42* probably null Het
Gbp2 A T 3: 142,337,843 (GRCm39) I320L probably benign Het
Gramd2a G A 9: 59,615,299 (GRCm39) G13R probably benign Het
H2-Q5 T C 17: 35,613,115 (GRCm39) M5T unknown Het
Jak3 C T 8: 72,131,344 (GRCm39) L70F probably damaging Het
Lhpp G A 7: 132,307,364 (GRCm39) V254M probably damaging Het
Lig1 T A 7: 13,030,184 (GRCm39) V387E possibly damaging Het
Lipo3 T C 19: 33,755,093 (GRCm39) probably benign Het
Lrrc8b C T 5: 105,629,208 (GRCm39) S518L probably benign Het
Narf T C 11: 121,135,480 (GRCm39) Y111H probably damaging Het
Ncf4 A G 15: 78,135,177 (GRCm39) K78R probably benign Het
Nrap A T 19: 56,330,601 (GRCm39) C1118* probably null Het
Nubp2 A G 17: 25,104,772 (GRCm39) V23A probably damaging Het
Or4l1 A T 14: 50,166,497 (GRCm39) F168Y probably damaging Het
Or6c219 A T 10: 129,781,780 (GRCm39) D50E possibly damaging Het
Or8g55 T C 9: 39,785,392 (GRCm39) S274P possibly damaging Het
Pdzd7 G A 19: 45,025,428 (GRCm39) P356S probably benign Het
Rttn T C 18: 89,056,070 (GRCm39) V984A probably damaging Het
Ryr3 A G 2: 112,516,925 (GRCm39) S3334P probably damaging Het
Senp7 G A 16: 55,959,468 (GRCm39) probably null Het
Slc25a3 A C 10: 90,957,903 (GRCm39) Y50D probably benign Het
Slc38a2 A T 15: 96,592,970 (GRCm39) S163T probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stam2 A T 2: 52,610,922 (GRCm39) C4* probably null Het
Taf1a A G 1: 183,177,272 (GRCm39) D50G possibly damaging Het
Taf6l A T 19: 8,759,995 (GRCm39) Y106N possibly damaging Het
Taf7l2 T C 10: 115,948,674 (GRCm39) E284G probably damaging Het
Tbx20 G A 9: 24,636,816 (GRCm39) Q424* probably null Het
Tex10 A G 4: 48,433,295 (GRCm39) V829A possibly damaging Het
Tgfbr3 T C 5: 107,257,474 (GRCm39) probably benign Het
Tnfsf10 G T 3: 27,389,742 (GRCm39) V268F probably damaging Het
Trrap A G 5: 144,767,755 (GRCm39) T2571A probably benign Het
Other mutations in Slc35e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Slc35e2 APN 4 155,697,187 (GRCm39) missense probably benign
IGL02244:Slc35e2 APN 4 155,703,019 (GRCm39) missense probably damaging 0.97
R1774:Slc35e2 UTSW 4 155,694,621 (GRCm39) missense possibly damaging 0.51
R1856:Slc35e2 UTSW 4 155,696,186 (GRCm39) missense probably damaging 1.00
R4600:Slc35e2 UTSW 4 155,702,106 (GRCm39) missense probably benign 0.04
R4601:Slc35e2 UTSW 4 155,702,106 (GRCm39) missense probably benign 0.04
R4603:Slc35e2 UTSW 4 155,702,106 (GRCm39) missense probably benign 0.04
R4610:Slc35e2 UTSW 4 155,702,106 (GRCm39) missense probably benign 0.04
R4917:Slc35e2 UTSW 4 155,700,693 (GRCm39) missense probably damaging 1.00
R4918:Slc35e2 UTSW 4 155,700,693 (GRCm39) missense probably damaging 1.00
R5440:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5468:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5469:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5470:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5512:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5513:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5514:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5689:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5692:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5711:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5714:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5872:Slc35e2 UTSW 4 155,697,137 (GRCm39) missense probably damaging 1.00
R5925:Slc35e2 UTSW 4 155,696,084 (GRCm39) missense probably damaging 1.00
R5947:Slc35e2 UTSW 4 155,696,171 (GRCm39) missense possibly damaging 0.70
R6044:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6063:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6065:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6066:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6188:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6243:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6273:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6484:Slc35e2 UTSW 4 155,697,104 (GRCm39) missense probably damaging 0.99
R6867:Slc35e2 UTSW 4 155,703,157 (GRCm39) missense probably benign 0.00
R7143:Slc35e2 UTSW 4 155,703,051 (GRCm39) missense probably benign 0.01
R7384:Slc35e2 UTSW 4 155,695,089 (GRCm39) missense probably benign 0.01
R8463:Slc35e2 UTSW 4 155,694,615 (GRCm39) missense probably damaging 1.00
R8737:Slc35e2 UTSW 4 155,695,042 (GRCm39) missense probably benign 0.01
R8940:Slc35e2 UTSW 4 155,694,542 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCTCCACATATGTCTGCAC -3'
(R):5'- CGACTCAATGACAGTGGTCTC -3'

Sequencing Primer
(F):5'- CAGGTGTCAAATGCATCTTACACAGG -3'
(R):5'- ACTCAATGACAGTGGTCTCTGTGATG -3'
Posted On 2016-12-15