Incidental Mutation 'R5947:Slc35e2'
ID 472220
Institutional Source Beutler Lab
Gene Symbol Slc35e2
Ensembl Gene ENSMUSG00000042202
Gene Name solute carrier family 35, member E2
Synonyms A530082C11Rik
MMRRC Submission 044138-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5947 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155685873-155707797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155696171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 186 (M186K)
Ref Sequence ENSEMBL: ENSMUSP00000113189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043829] [ENSMUST00000105608] [ENSMUST00000115821] [ENSMUST00000118607]
AlphaFold Q8C811
Predicted Effect possibly damaging
Transcript: ENSMUST00000043829
AA Change: M186K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041449
Gene: ENSMUSG00000042202
AA Change: M186K

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 possibly damaging
Transcript: ENSMUST00000105608
AA Change: M186K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101233
Gene: ENSMUSG00000042202
AA Change: M186K

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 possibly damaging
Transcript: ENSMUST00000118607
AA Change: M186K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113189
Gene: ENSMUSG00000042202
AA Change: M186K

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: ENSMUST00000128841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154931
Meta Mutation Damage Score 0.4234 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T C 8: 124,694,737 (GRCm39) probably null Het
Abt1 T C 13: 23,606,225 (GRCm39) E243G possibly damaging Het
Afap1l1 A G 18: 61,876,771 (GRCm39) S361P probably damaging Het
Alms1 T C 6: 85,596,694 (GRCm39) S507P probably benign Het
Atp13a3 A G 16: 30,181,518 (GRCm39) V34A probably benign Het
Atpaf2 A T 11: 60,296,708 (GRCm39) probably benign Het
Bbs1 A C 19: 4,943,022 (GRCm39) L456R probably benign Het
Bri3bp G T 5: 125,529,217 (GRCm39) G84* probably null Het
Bri3bp G C 5: 125,529,218 (GRCm39) probably benign Het
Car10 A C 11: 93,381,439 (GRCm39) H134P probably damaging Het
Cntrl A G 2: 35,006,691 (GRCm39) E119G probably damaging Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Dppa4 T C 16: 48,111,471 (GRCm39) V100A possibly damaging Het
Elmo1 G T 13: 20,474,553 (GRCm39) E105* probably null Het
Esrp2 T G 8: 106,859,565 (GRCm39) probably benign Het
Exoc3l4 A G 12: 111,388,835 (GRCm39) K108R possibly damaging Het
Exph5 G A 9: 53,286,522 (GRCm39) R1201H probably benign Het
Galnt3 A C 2: 65,914,500 (GRCm39) probably benign Het
Gm14486 C T 2: 30,548,813 (GRCm39) noncoding transcript Het
Gna12 T A 5: 140,746,717 (GRCm39) I243F probably damaging Het
Itga5 A T 15: 103,265,212 (GRCm39) W232R probably damaging Het
Lekr1 A T 3: 65,680,498 (GRCm39) noncoding transcript Het
Lrp1 C T 10: 127,425,423 (GRCm39) probably null Het
Mast4 T C 13: 102,872,148 (GRCm39) M2215V probably benign Het
Mfap5 T C 6: 122,502,945 (GRCm39) Y52H probably damaging Het
Mrps31 A G 8: 22,904,991 (GRCm39) K127E possibly damaging Het
Mto1 C T 9: 78,368,311 (GRCm39) T485M probably damaging Het
Mybbp1a G A 11: 72,333,257 (GRCm39) C107Y probably damaging Het
Nedd4 G A 9: 72,638,132 (GRCm39) probably benign Het
Nek2 A G 1: 191,561,597 (GRCm39) E360G probably benign Het
Notch1 T A 2: 26,352,540 (GRCm39) probably benign Het
Nubp1 T C 16: 10,238,050 (GRCm39) probably benign Het
Pcdhb1 G A 18: 37,399,726 (GRCm39) R559H possibly damaging Het
Pdcd11 G A 19: 47,117,702 (GRCm39) V1684I probably benign Het
Pggt1b G T 18: 46,382,007 (GRCm39) N258K probably benign Het
Pou6f1 C T 15: 100,484,001 (GRCm39) V166M possibly damaging Het
Pprc1 A G 19: 46,052,111 (GRCm39) D546G possibly damaging Het
Psapl1 T C 5: 36,361,651 (GRCm39) V81A probably benign Het
Rin2 T A 2: 145,686,863 (GRCm39) probably benign Het
Rpf1 A G 3: 146,212,299 (GRCm39) F347S probably damaging Het
Rrp12 A T 19: 41,859,247 (GRCm39) probably null Het
Ryr1 A T 7: 28,771,349 (GRCm39) L2557Q probably null Het
Slc1a7 T C 4: 107,867,497 (GRCm39) probably benign Het
Slc49a4 T C 16: 35,550,676 (GRCm39) T308A probably benign Het
Snx6 G T 12: 54,817,549 (GRCm39) S116* probably null Het
Sptan1 T C 2: 29,884,379 (GRCm39) probably null Het
Sucla2 T A 14: 73,830,109 (GRCm39) M382K probably damaging Het
Susd5 T C 9: 113,886,659 (GRCm39) L16P possibly damaging Het
Tmem260 G A 14: 48,724,258 (GRCm39) A369T possibly damaging Het
Tmprss6 A G 15: 78,336,722 (GRCm39) Y393H probably damaging Het
Tnrc6c A T 11: 117,613,345 (GRCm39) Q501L probably damaging Het
Trim17 A G 11: 58,856,369 (GRCm39) Y142C probably damaging Het
Trim65 T C 11: 116,019,108 (GRCm39) R144G probably damaging Het
Trpm1 A G 7: 63,873,547 (GRCm39) T601A probably benign Het
Ttn A T 2: 76,564,688 (GRCm39) V28483E probably damaging Het
Ube2l3 T C 16: 17,019,340 (GRCm39) probably null Het
Ube2l3 G T 16: 17,019,336 (GRCm39) probably benign Het
Yme1l1 T C 2: 23,085,318 (GRCm39) probably benign Het
Zfat A G 15: 68,051,806 (GRCm39) S663P probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging 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
R5799: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
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'- AGATGTGCCCACTGTTCATG -3'
(R):5'- TGACCTCCAAGGACACTTTTC -3'

Sequencing Primer
(F):5'- GCCCACTGTTCATGATTTAGAG -3'
(R):5'- AGTAACACTGTCGCTCCTAGG -3'
Posted On 2017-03-31