Incidental Mutation 'R0968:Slc35e1'
ID 83952
Institutional Source Beutler Lab
Gene Symbol Slc35e1
Ensembl Gene ENSMUSG00000019731
Gene Name solute carrier family 35, member E1
Synonyms
MMRRC Submission 039097-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R0968 (G1)
Quality Score 130
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: 99.5%
  • 3x: 99.0%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 94% (34/36)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,967 (GRCm39) V719M probably damaging Het
Abca13 A G 11: 9,248,016 (GRCm39) S2588G probably benign Het
Acaca C T 11: 84,129,859 (GRCm39) Q405* probably null Het
Brms1l G A 12: 55,912,798 (GRCm39) D264N possibly damaging Het
Cabcoco1 T C 10: 68,272,202 (GRCm39) M254V probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Coro7 G C 16: 4,487,919 (GRCm39) probably benign Het
Cylc2 A G 4: 51,216,706 (GRCm39) M1V probably null Het
Cyp3a11 G A 5: 145,799,324 (GRCm39) probably benign Het
Dnah10 C T 5: 124,906,641 (GRCm39) T4224M probably damaging Het
Dnah2 T C 11: 69,339,345 (GRCm39) E3054G possibly damaging Het
Dnm3 A G 1: 161,847,388 (GRCm39) probably benign Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
Fgf12 T C 16: 27,981,185 (GRCm39) N177S probably null Het
Flt3 C T 5: 147,278,037 (GRCm39) V846I possibly damaging Het
Gm11569 A T 11: 99,689,250 (GRCm39) probably benign Het
Gm12695 A C 4: 96,650,303 (GRCm39) V181G probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Lars1 C A 18: 42,351,648 (GRCm39) R852L probably benign Het
Lca5 T C 9: 83,305,222 (GRCm39) T195A probably benign Het
Lrrc40 G A 3: 157,742,426 (GRCm39) D14N probably damaging Het
Map4k2 T C 19: 6,395,487 (GRCm39) S327P probably damaging Het
Mpp4 A G 1: 59,169,249 (GRCm39) F397L probably damaging Het
Mtus2 T C 5: 148,014,994 (GRCm39) S596P probably benign Het
Myo3a T A 2: 22,448,301 (GRCm39) N25K probably damaging Het
Nadsyn1 T C 7: 143,359,770 (GRCm39) T401A probably benign Het
Pde6a A T 18: 61,386,809 (GRCm39) E395D probably damaging Het
Plekhm2 A G 4: 141,357,243 (GRCm39) V743A probably benign Het
Pzp A T 6: 128,502,108 (GRCm39) D80E probably benign Het
Rp1 A T 1: 4,415,575 (GRCm39) C1846S probably benign Het
Shbg A G 11: 69,508,014 (GRCm39) L117P probably damaging Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Supt20 A G 3: 54,615,821 (GRCm39) probably benign Het
Vcpip1 A T 1: 9,816,604 (GRCm39) I593N 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
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
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'- GGGAAATTGACACCTACCGCACAG -3'

Sequencing Primer
(F):5'- GCGCTCAAAATCACCTTGTTG -3'
(R):5'- GCGTAGTCCAGAGGATTTACC -3'
Posted On 2013-11-08