Incidental Mutation 'IGL02357:Slc35e4'
ID290601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35e4
Ensembl Gene ENSMUSG00000048807
Gene Namesolute carrier family 35, member E4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL02357
Quality Score
Status
Chromosome11
Chromosomal Location3907021-3914664 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 3912640 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 183 (R183Q)
Ref Sequence ENSEMBL: ENSMUSP00000105622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020710] [ENSMUST00000051207] [ENSMUST00000109988] [ENSMUST00000109989] [ENSMUST00000109990] [ENSMUST00000109991] [ENSMUST00000109992] [ENSMUST00000109993] [ENSMUST00000109995]
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: R183Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000050978
Gene: ENSMUSG00000048807
AA Change: R183Q

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: R183Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000105622
Gene: ENSMUSG00000048807
AA Change: R183Q

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110035E14Rik T C 1: 9,613,319 I44T possibly damaging Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
Adamts16 T A 13: 70,738,585 T1029S probably benign Het
Adgrv1 C A 13: 81,270,855 C6007F probably benign Het
Ak8 A T 2: 28,700,213 H8L probably benign Het
Apol7b A G 15: 77,423,632 V221A probably benign Het
BC005624 G A 2: 30,973,767 P235S probably benign Het
Casp9 C A 4: 141,805,472 D226E probably benign Het
Cd96 A G 16: 46,069,776 probably benign Het
Celf1 A T 2: 90,998,588 K27I probably damaging Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Cyp3a59 T C 5: 146,079,342 L3P probably damaging Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Emb A G 13: 117,249,471 probably benign Het
Fbn2 G T 18: 58,103,995 N645K possibly damaging Het
Fes T C 7: 80,383,830 probably null Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Gm5145 A T 17: 20,570,440 I27F probably damaging Het
Hecw1 A G 13: 14,248,338 probably null Het
Hook2 C T 8: 84,994,985 Q291* probably null Het
Jakmip2 T C 18: 43,547,127 T722A possibly damaging Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Ngdn T A 14: 55,021,936 V179E probably damaging Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1349 T A 7: 6,515,226 M68L probably damaging Het
Olfr1535 A G 13: 21,555,602 L140P probably damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Plcb3 A C 19: 6,958,178 L789R probably damaging Het
Plek C T 11: 16,981,846 R335H probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rusc2 T G 4: 43,425,351 V1152G possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Slc22a22 A G 15: 57,247,448 V461A probably benign Het
Spen T C 4: 141,477,579 T1246A unknown Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Tpgs1 A G 10: 79,675,759 D245G probably benign Het
Ttn A G 2: 76,709,619 V34341A probably benign Het
Wwox T C 8: 114,712,142 V316A possibly damaging Het
Other mutations in Slc35e4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02350:Slc35e4 APN 11 3912640 missense probably benign 0.00
IGL02631:Slc35e4 APN 11 3907729 missense probably damaging 0.99
R2213:Slc35e4 UTSW 11 3913159 missense possibly damaging 0.62
R2862:Slc35e4 UTSW 11 3912796 missense probably damaging 1.00
R3730:Slc35e4 UTSW 11 3912577 missense possibly damaging 0.84
R3948:Slc35e4 UTSW 11 3912970 missense probably damaging 1.00
R4650:Slc35e4 UTSW 11 3912677 missense probably damaging 1.00
R4818:Slc35e4 UTSW 11 3912889 missense probably benign 0.01
R5195:Slc35e4 UTSW 11 3912872 missense possibly damaging 0.57
R6488:Slc35e4 UTSW 11 3912602 missense possibly damaging 0.93
R7094:Slc35e4 UTSW 11 3913118 missense probably benign
R7259:Slc35e4 UTSW 11 3912530 intron probably null
R7316:Slc35e4 UTSW 11 3912584 missense probably damaging 1.00
RF005:Slc35e4 UTSW 11 3907960 missense possibly damaging 0.88
RF024:Slc35e4 UTSW 11 3907960 missense possibly damaging 0.88
Posted On2015-04-16