Incidental Mutation 'R1314:Slc35e1'
ID 157505
Institutional Source Beutler Lab
Gene Symbol Slc35e1
Ensembl Gene ENSMUSG00000019731
Gene Name solute carrier family 35, member E1
Synonyms
MMRRC Submission 039380-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R1314 (G1)
Quality Score 107
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: 98.2%
  • 10x: 96.1%
  • 20x: 92.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A G 12: 21,379,072 (GRCm39) L659P probably damaging Het
Cachd1 G T 4: 100,832,114 (GRCm39) G759C probably damaging Het
Depdc5 T A 5: 33,034,418 (GRCm39) V95E probably damaging Het
Elp1 T A 4: 56,786,647 (GRCm39) H432L probably benign Het
Filip1 T A 9: 79,727,848 (GRCm39) H257L probably damaging Het
Gfi1 A T 5: 107,869,740 (GRCm39) probably null Het
Golim4 T C 3: 75,793,595 (GRCm39) E579G probably damaging Het
Kcnip1 A G 11: 33,592,481 (GRCm39) W140R probably damaging Het
Nutm1 A G 2: 112,080,154 (GRCm39) I587T probably benign Het
Or4c10b A G 2: 89,711,221 (GRCm39) E17G probably benign Het
Prkag3 A G 1: 74,786,343 (GRCm39) S201P probably damaging Het
Prkdc C T 16: 15,482,091 (GRCm39) A378V possibly damaging Het
Rarb A G 14: 16,508,932 (GRCm38) probably null Het
Rfc2 T A 5: 134,620,054 (GRCm39) N167K probably damaging Het
Rnf43 A G 11: 87,623,145 (GRCm39) T749A probably benign Het
Tectb A G 19: 55,172,417 (GRCm39) N155D probably damaging Het
Tnpo1 G A 13: 98,997,230 (GRCm39) P400S probably damaging Het
Ugt8a T C 3: 125,665,397 (GRCm39) T367A probably benign Het
Vmn2r39 A T 7: 9,017,981 (GRCm39) M785K probably damaging Het
Zfp819 C T 7: 43,266,480 (GRCm39) T321I probably benign 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
R1247: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 2014-02-18