Incidental Mutation 'R1123:Slc35e1'
ID 95859
Institutional Source Beutler Lab
Gene Symbol Slc35e1
Ensembl Gene ENSMUSG00000019731
Gene Name solute carrier family 35, member E1
Synonyms
MMRRC Submission 039196-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R1123 (G1)
Quality Score 122
Status Not validated
Chromosome 8
Chromosomal Location 73234485-73246458 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 73246415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000058697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058534] [ENSMUST00000152080]
AlphaFold Q8CD26
Predicted Effect probably benign
Transcript: ENSMUST00000058534
SMART Domains Protein: ENSMUSP00000058697
Gene: ENSMUSG00000045248

DomainStartEndE-ValueType
TFS2N 12 86 6.67e-21 SMART
low complexity region 93 108 N/A INTRINSIC
Pfam:Med26_M 177 405 3e-80 PFAM
Pfam:Med26_C 407 586 5.1e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141352
SMART Domains Protein: ENSMUSP00000122215
Gene: ENSMUSG00000019731

DomainStartEndE-ValueType
Pfam:EamA 5 58 1.5e-6 PFAM
Pfam:UAA 6 214 4e-8 PFAM
Pfam:TPT 67 211 1.7e-38 PFAM
Pfam:EamA 76 211 1.4e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000152080
AA Change: T6A
SMART Domains Protein: ENSMUSP00000115754
Gene: ENSMUSG00000019731
AA Change: T6A

DomainStartEndE-ValueType
Pfam:TPT 28 333 8.3e-95 PFAM
Pfam:EamA 188 334 7.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212699
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,154,906 (GRCm39) M987K probably benign Het
Akap3 A G 6: 126,842,929 (GRCm39) D516G probably benign Het
Arhgap12 A C 18: 6,031,822 (GRCm39) V573G probably damaging Het
Ccdc122 T C 14: 77,305,351 (GRCm39) S2P probably damaging Het
Cel T C 2: 28,446,752 (GRCm39) Y473C probably damaging Het
Cfap157 C T 2: 32,667,935 (GRCm39) V469M possibly damaging Het
Cyp2c40 C G 19: 39,801,121 (GRCm39) V45L probably benign Het
Dtx3l C T 16: 35,753,638 (GRCm39) A323T probably damaging Het
Erap1 A G 13: 74,821,762 (GRCm39) T706A probably benign Het
Esyt1 A T 10: 128,352,427 (GRCm39) V728E probably benign Het
Etnk2 A G 1: 133,301,010 (GRCm39) D259G probably benign Het
Evi5 T G 5: 107,968,444 (GRCm39) I184L probably benign Het
Fem1a G C 17: 56,564,791 (GRCm39) D295H probably damaging Het
Hectd4 T C 5: 121,424,799 (GRCm39) F83S probably damaging Het
Hephl1 T C 9: 14,991,436 (GRCm39) T601A probably benign Het
Isoc1 T C 18: 58,804,695 (GRCm39) V201A probably benign Het
Kcnt2 A T 1: 140,501,346 (GRCm39) D830V probably damaging Het
Lrfn1 G T 7: 28,166,544 (GRCm39) C646F possibly damaging Het
Nbeal1 T C 1: 60,299,428 (GRCm39) Y1255H probably benign Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Or4c120 A G 2: 89,001,212 (GRCm39) S115P possibly damaging Het
Or5k16 A T 16: 58,736,697 (GRCm39) Y102* probably null Het
Or9m1 A C 2: 87,733,248 (GRCm39) I257M probably damaging Het
Pik3r4 G A 9: 105,540,328 (GRCm39) A739T probably benign Het
Prpf8 T C 11: 75,386,111 (GRCm39) V920A probably damaging Het
Slc16a7 A C 10: 125,067,016 (GRCm39) S208A probably benign Het
Slc35g2 A T 9: 100,435,047 (GRCm39) I208N probably damaging Het
Suclg1 A G 6: 73,233,210 (GRCm39) I51V probably benign Het
Thoc2l T C 5: 104,666,336 (GRCm39) L286P probably damaging Het
Other mutations in Slc35e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Slc35e1 APN 8 73,237,602 (GRCm39) utr 3 prime probably benign
IGL01399:Slc35e1 APN 8 73,238,534 (GRCm39) missense probably damaging 1.00
IGL02663:Slc35e1 APN 8 73,242,053 (GRCm39) missense probably damaging 1.00
IGL03349:Slc35e1 APN 8 73,237,696 (GRCm39) missense probably damaging 0.99
flattened UTSW 8 73,241,973 (GRCm39) missense probably damaging 1.00
wizened UTSW 8 73,246,030 (GRCm39) missense
R0009:Slc35e1 UTSW 8 73,238,553 (GRCm39) missense probably damaging 1.00
R0009:Slc35e1 UTSW 8 73,238,553 (GRCm39) missense probably damaging 1.00
R0054:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R0105:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R0401:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R0510:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R0511:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R0529:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R0566:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R0968:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R0969:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R1029:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R1051:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R1245:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R1247:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R1314:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R1343:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R1357:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R1401:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R1430:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R1715:Slc35e1 UTSW 8 73,237,821 (GRCm39) missense probably benign 0.05
R3031:Slc35e1 UTSW 8 73,238,735 (GRCm39) missense probably benign 0.03
R3769:Slc35e1 UTSW 8 73,245,714 (GRCm39) missense possibly damaging 0.89
R4745:Slc35e1 UTSW 8 73,246,166 (GRCm39) missense possibly damaging 0.81
R6884:Slc35e1 UTSW 8 73,238,726 (GRCm39) missense possibly damaging 0.77
R7309:Slc35e1 UTSW 8 73,246,358 (GRCm39) missense unknown
R7848:Slc35e1 UTSW 8 73,246,280 (GRCm39) missense probably benign 0.08
R7913:Slc35e1 UTSW 8 73,238,506 (GRCm39) missense probably damaging 1.00
R8080:Slc35e1 UTSW 8 73,246,030 (GRCm39) missense
R8806:Slc35e1 UTSW 8 73,241,973 (GRCm39) missense probably damaging 1.00
R8921:Slc35e1 UTSW 8 73,241,988 (GRCm39) missense probably benign
R8948:Slc35e1 UTSW 8 73,246,042 (GRCm39) missense probably damaging 1.00
R9108:Slc35e1 UTSW 8 73,246,030 (GRCm39) missense
R9111:Slc35e1 UTSW 8 73,246,030 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GGCGCTCAAAATCACCTTGTTGACC -3'
(R):5'- AGGGGAAATTGACACCTACCGCAC -3'

Sequencing Primer
(F):5'- AAATCACCTTGTTGACCACGTTAC -3'
(R):5'- GCGTAGTCCAGAGGATTTACC -3'
Posted On 2014-01-05