Incidental Mutation 'R7094:Slc35e4'
ID 550368
Institutional Source Beutler Lab
Gene Symbol Slc35e4
Ensembl Gene ENSMUSG00000048807
Gene Name solute carrier family 35, member E4
Synonyms A330108F03Rik
MMRRC Submission 045187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7094 (G1)
Quality Score 182.009
Status Validated
Chromosome 11
Chromosomal Location 3857022-3864664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3863118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 24 (S24G)
Ref Sequence ENSEMBL: ENSMUSP00000050978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020710] [ENSMUST00000051207] [ENSMUST00000109988] [ENSMUST00000109989] [ENSMUST00000109990] [ENSMUST00000109991] [ENSMUST00000109992] [ENSMUST00000109993] [ENSMUST00000109995]
AlphaFold Q8K3D6
Predicted Effect probably benign
Transcript: ENSMUST00000020710
SMART Domains Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000051207
AA Change: S24G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000050978
Gene: ENSMUSG00000048807
AA Change: S24G

DomainStartEndE-ValueType
Pfam:EamA 50 179 1.9e-9 PFAM
Pfam:UAA 68 332 2.1e-15 PFAM
Pfam:TPT 188 327 2.5e-19 PFAM
Pfam:EamA 200 326 1.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109988
SMART Domains Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109989
SMART Domains Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109990
SMART Domains Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109991
SMART Domains Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 3 331 1.2e-118 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 429 9.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109992
SMART Domains Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109993
SMART Domains Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109995
AA Change: S24G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105622
Gene: ENSMUSG00000048807
AA Change: S24G

DomainStartEndE-ValueType
Pfam:EamA 47 179 9.7e-7 PFAM
Pfam:TPT 47 327 6.1e-21 PFAM
Pfam:UAA 56 330 1.3e-7 PFAM
Pfam:EamA 187 327 2.6e-8 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,248,610 (GRCm39) I2786F probably damaging Het
Actl6a A T 3: 32,760,487 (GRCm39) probably benign Het
Actn2 A G 13: 12,324,543 (GRCm39) V100A probably damaging Het
Arfgef3 G T 10: 18,522,187 (GRCm39) A613E probably damaging Het
Atf6b G A 17: 34,872,790 (GRCm39) probably null Het
Bub1 T A 2: 127,663,681 (GRCm39) E240V probably null Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccdc141 C A 2: 76,871,797 (GRCm39) R829L possibly damaging Het
Ccdc85c GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC GCCGCCGCCGCCAGCGCC 12: 108,240,877 (GRCm39) probably null Het
Cd209g T C 8: 4,186,790 (GRCm39) F112L possibly damaging Het
Cebpe C T 14: 54,948,060 (GRCm39) R261H probably damaging Het
Cfap100 T C 6: 90,390,436 (GRCm39) E68G Het
Chd9 A G 8: 91,716,189 (GRCm39) N921S unknown Het
Chil6 T C 3: 106,311,486 (GRCm39) N98S probably damaging Het
Clip1 T C 5: 123,761,333 (GRCm39) K734E probably benign Het
Cracd C T 5: 77,006,879 (GRCm39) P1080L unknown Het
Cyp11b2 A G 15: 74,725,507 (GRCm39) F204S possibly damaging Het
Dnah5 A G 15: 28,453,482 (GRCm39) T4418A probably damaging Het
Dysf T C 6: 84,077,184 (GRCm39) V649A probably benign Het
Ergic3 G A 2: 155,858,683 (GRCm39) V270M possibly damaging Het
Eva1a C T 6: 82,069,024 (GRCm39) T117I probably damaging Het
Fat4 G A 3: 38,944,023 (GRCm39) G972D probably damaging Het
Gm14412 A T 2: 177,009,138 (GRCm39) N39K probably damaging Het
Gm5565 T C 5: 146,095,084 (GRCm39) T221A probably benign Het
Gnptab T G 10: 88,215,366 (GRCm39) V29G possibly damaging Het
Grem2 T C 1: 174,664,555 (GRCm39) Y98C probably damaging Het
Grik2 A T 10: 49,232,012 (GRCm39) I506N possibly damaging Het
Has2 T A 15: 56,545,017 (GRCm39) Y195F probably damaging Het
Kics2 A G 10: 121,576,098 (GRCm39) Y73C possibly damaging Het
Lars2 T C 9: 123,288,650 (GRCm39) L832P probably damaging Het
Lipo5 T A 19: 33,446,249 (GRCm39) E49D probably damaging Het
Macc1 T A 12: 119,414,126 (GRCm39) Y767* probably null Het
Map2 G T 1: 66,451,886 (GRCm39) E259* probably null Het
Mcm9 T C 10: 53,496,253 (GRCm39) D310G probably damaging Het
Mink1 C A 11: 70,500,901 (GRCm39) probably null Het
Mtrr T C 13: 68,727,803 (GRCm39) T48A possibly damaging Het
Nrsn1 A T 13: 25,437,724 (GRCm39) I68N possibly damaging Het
Or1ab2 A T 8: 72,863,347 (GRCm39) probably benign Het
Or4a71 A T 2: 89,357,902 (GRCm39) I284K probably damaging Het
Or51f23b A G 7: 102,402,305 (GRCm39) M277T probably benign Het
Or5p60 G T 7: 107,723,840 (GRCm39) T210N probably benign Het
Or8k36-ps1 T C 2: 86,437,672 (GRCm39) N81S unknown Het
Pcdh17 A G 14: 84,684,835 (GRCm39) D434G probably damaging Het
Rnf213 T A 11: 119,328,430 (GRCm39) probably null Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sez6l2 A G 7: 126,552,096 (GRCm39) E121G probably damaging Het
Slc39a2 G T 14: 52,131,146 (GRCm39) probably benign Het
Slitrk5 C T 14: 111,918,268 (GRCm39) P631S probably benign Het
Taf2 A G 15: 54,923,482 (GRCm39) V265A probably benign Het
Tas2r106 T C 6: 131,655,542 (GRCm39) N103S probably benign Het
Tgm1 T C 14: 55,942,300 (GRCm39) T684A possibly damaging Het
Tgm7 C T 2: 120,929,489 (GRCm39) G262S probably damaging Het
Tpp2 T A 1: 44,008,148 (GRCm39) S451T probably damaging Het
Trim15 T C 17: 37,173,788 (GRCm39) Y240C probably benign Het
Trio A T 15: 27,891,534 (GRCm39) C465S unknown Het
Ttc22 G A 4: 106,493,104 (GRCm39) W250* probably null Het
Upb1 C A 10: 75,274,042 (GRCm39) F356L probably damaging Het
Vmn2r99 T A 17: 19,599,573 (GRCm39) M419K probably benign Het
Vstm2a G A 11: 16,207,990 (GRCm39) probably benign Het
Zfp820 T C 17: 22,038,246 (GRCm39) T361A probably benign Het
Other mutations in Slc35e4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02350:Slc35e4 APN 11 3,862,640 (GRCm39) missense probably benign 0.00
IGL02357:Slc35e4 APN 11 3,862,640 (GRCm39) missense probably benign 0.00
IGL02631:Slc35e4 APN 11 3,857,729 (GRCm39) missense probably damaging 0.99
R2213:Slc35e4 UTSW 11 3,863,159 (GRCm39) missense possibly damaging 0.62
R2862:Slc35e4 UTSW 11 3,862,796 (GRCm39) missense probably damaging 1.00
R3730:Slc35e4 UTSW 11 3,862,577 (GRCm39) missense possibly damaging 0.84
R3948:Slc35e4 UTSW 11 3,862,970 (GRCm39) missense probably damaging 1.00
R4650:Slc35e4 UTSW 11 3,862,677 (GRCm39) missense probably damaging 1.00
R4818:Slc35e4 UTSW 11 3,862,889 (GRCm39) missense probably benign 0.01
R5195:Slc35e4 UTSW 11 3,862,872 (GRCm39) missense possibly damaging 0.57
R6488:Slc35e4 UTSW 11 3,862,602 (GRCm39) missense possibly damaging 0.93
R7259:Slc35e4 UTSW 11 3,862,530 (GRCm39) splice site probably null
R7316:Slc35e4 UTSW 11 3,862,584 (GRCm39) missense probably damaging 1.00
R8831:Slc35e4 UTSW 11 3,863,087 (GRCm39) missense possibly damaging 0.62
RF005:Slc35e4 UTSW 11 3,857,960 (GRCm39) missense possibly damaging 0.88
RF024:Slc35e4 UTSW 11 3,857,960 (GRCm39) missense possibly damaging 0.88
Z1176:Slc35e4 UTSW 11 3,863,156 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- CAGCATGTGCAGTGCTGAAAG -3'
(R):5'- ATCTTAGCAGCCACGACCTTC -3'

Sequencing Primer
(F):5'- CTGAAAGCAGCAGGGGCC -3'
(R):5'- CAGAATTATCGGCTGGCTCAG -3'
Posted On 2019-05-15