Incidental Mutation 'IGL02350:Slc35e4'
ID 289758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35e4
Ensembl Gene ENSMUSG00000048807
Gene Name solute carrier family 35, member E4
Synonyms A330108F03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02350
Quality Score
Status
Chromosome 11
Chromosomal Location 3857022-3864664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3862640 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000109995] [ENSMUST00000109992] [ENSMUST00000109993]
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: 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: 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
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Adamts16 T A 13: 70,886,704 (GRCm39) T1029S probably benign Het
Adgrv1 C A 13: 81,418,974 (GRCm39) C6007F probably benign Het
Ak8 A T 2: 28,590,225 (GRCm39) H8L probably benign Het
Apol7b A G 15: 77,307,832 (GRCm39) V221A probably benign Het
BC005624 G A 2: 30,863,779 (GRCm39) P235S probably benign Het
Cd96 A G 16: 45,890,139 (GRCm39) probably benign Het
Celf1 A T 2: 90,828,933 (GRCm39) K27I probably damaging Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Cyp3a59 T C 5: 146,016,152 (GRCm39) L3P probably damaging Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Dph3b-ps A G 13: 106,683,453 (GRCm39) noncoding transcript Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Fbn2 G T 18: 58,237,067 (GRCm39) N645K possibly damaging Het
Fes T C 7: 80,033,578 (GRCm39) probably null Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gckr C A 5: 31,465,134 (GRCm39) H368N possibly damaging Het
Gm5145 A T 17: 20,790,702 (GRCm39) I27F probably damaging Het
Hecw1 A G 13: 14,422,923 (GRCm39) probably null Het
Hivep3 T G 4: 119,980,222 (GRCm39) C1753W probably damaging Het
Hook2 C T 8: 85,721,614 (GRCm39) Q291* probably null Het
Jakmip2 T C 18: 43,680,192 (GRCm39) T722A possibly damaging Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Mrpl23 T A 7: 142,089,802 (GRCm39) probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Ngdn T A 14: 55,259,393 (GRCm39) V179E probably damaging Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or10am5 T A 7: 6,518,225 (GRCm39) M68L probably damaging Het
Or2b7 A G 13: 21,739,772 (GRCm39) L140P probably damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Plcb3 A C 19: 6,935,546 (GRCm39) L789R probably damaging Het
Plek C T 11: 16,931,846 (GRCm39) R335H probably damaging Het
Pmp22 G T 11: 63,049,134 (GRCm39) V126F probably benign Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm39) V1152G possibly damaging Het
Slc16a4 A G 3: 107,210,415 (GRCm39) I362V probably benign Het
Slc22a22 A G 15: 57,110,844 (GRCm39) V461A probably benign Het
Spen T C 4: 141,204,890 (GRCm39) T1246A unknown Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tdpoz2 A G 3: 93,559,735 (GRCm39) V79A possibly damaging Het
Ttn A G 2: 76,539,963 (GRCm39) V34341A probably benign Het
Vxn T C 1: 9,683,544 (GRCm39) I44T possibly damaging Het
Wwox T C 8: 115,438,882 (GRCm39) V316A possibly damaging Het
Other mutations in Slc35e4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7094:Slc35e4 UTSW 11 3,863,118 (GRCm39) missense probably benign
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
Posted On 2015-04-16