Incidental Mutation 'R1247:Slc35e1'
ID 152169
Institutional Source Beutler Lab
Gene Symbol Slc35e1
Ensembl Gene ENSMUSG00000019731
Gene Name solute carrier family 35, member E1
Synonyms
MMRRC Submission 039314-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R1247 (G1)
Quality Score 104
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: 99.0%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
Brca2 C A 5: 150,464,739 (GRCm39) A1501D probably damaging Het
Ctbp2 G C 7: 132,596,918 (GRCm39) R722G probably benign Het
Cyp3a44 A G 5: 145,728,477 (GRCm39) F249S probably damaging Het
Huwe1 G C X: 150,684,566 (GRCm39) S2199T probably benign Het
Pds5b CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 5: 150,698,819 (GRCm39) probably benign Het
Samd4 AGG AG 14: 47,301,785 (GRCm39) probably benign Het
Samd4 G GAAA 14: 47,325,215 (GRCm39) probably benign Het
Sox15 T C 11: 69,547,320 (GRCm39) F190S probably benign Het
Syne2 G A 12: 76,014,264 (GRCm39) A3153T probably benign Het
Tbr1 C T 2: 61,641,962 (GRCm39) P409L possibly 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
R1123:Slc35e1 UTSW 8 73,246,415 (GRCm39) unclassified probably benign
R1245: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'- ACGGGAAGGCGCTCAAAATCAC -3'
(R):5'- AGGGGAAATTGACACCTACCGCAC -3'

Sequencing Primer
(F):5'- GCGCTCAAAATCACCTTGTTG -3'
(R):5'- GCGTAGTCCAGAGGATTTACC -3'
Posted On 2014-01-29