Incidental Mutation 'R6072:Slc23a4'
ID 482533
Institutional Source Beutler Lab
Gene Symbol Slc23a4
Ensembl Gene ENSMUSG00000029847
Gene Name solute carrier family 23 member 4
Synonyms LOC243753, 2010107G12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6072 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 34922213-34965339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34925357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 491 (K491E)
Ref Sequence ENSEMBL: ENSMUSP00000144387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044387] [ENSMUST00000201355]
AlphaFold A0A0J9YUX7
Predicted Effect probably benign
Transcript: ENSMUST00000044387
SMART Domains Protein: ENSMUSP00000041436
Gene: ENSMUSG00000029847

DomainStartEndE-ValueType
Pfam:Xan_ur_permease 2 282 2.2e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134874
Predicted Effect probably benign
Transcript: ENSMUST00000147169
SMART Domains Protein: ENSMUSP00000119927
Gene: ENSMUSG00000029847

DomainStartEndE-ValueType
Pfam:Xan_ur_permease 1 227 6.9e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201355
AA Change: K491E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000144387
Gene: ENSMUSG00000029847
AA Change: K491E

DomainStartEndE-ValueType
Pfam:Xan_ur_permease 56 491 4.7e-96 PFAM
transmembrane domain 505 524 N/A INTRINSIC
low complexity region 548 557 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,357 (GRCm39) M92K probably benign Het
Abca15 T A 7: 119,987,481 (GRCm39) C1256S probably damaging Het
Asic2 A G 11: 80,784,914 (GRCm39) S291P probably damaging Het
Asph A G 4: 9,643,533 (GRCm39) probably null Het
Ccdc57 T A 11: 120,792,901 (GRCm39) K284N probably damaging Het
Cfap210 A T 2: 69,602,402 (GRCm39) D336E probably benign Het
Dnm3 CAGCCTTCGTTGGGTG C 1: 161,838,637 (GRCm39) probably benign Het
Dop1a G A 9: 86,389,750 (GRCm39) S558N probably benign Het
F830045P16Rik T A 2: 129,314,614 (GRCm39) Q221L probably damaging Het
Gm10146 A G 10: 78,229,332 (GRCm39) noncoding transcript Het
Gys2 T G 6: 142,374,263 (GRCm39) D594A probably damaging Het
Irf9 A G 14: 55,843,284 (GRCm39) E114G probably damaging Het
Itpr2 T G 6: 146,248,609 (GRCm39) K1082T probably damaging Het
Krt14 C T 11: 100,097,992 (GRCm39) G97D unknown Het
Lmo7 A T 14: 102,166,772 (GRCm39) probably benign Het
Nckap5l A T 15: 99,324,535 (GRCm39) L656Q probably damaging Het
Ndufs8 T C 19: 3,959,275 (GRCm39) T129A probably damaging Het
Nosip G A 7: 44,726,072 (GRCm39) V187M possibly damaging Het
Or4l1 A T 14: 50,166,606 (GRCm39) Y132N probably damaging Het
Or7g18 G A 9: 18,786,718 (GRCm39) V29I probably benign Het
Phf3 A C 1: 30,869,769 (GRCm39) N426K probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Pphln1-ps1 T C 16: 13,495,353 (GRCm39) S151P probably damaging Het
Ptpru A G 4: 131,503,539 (GRCm39) S1164P probably damaging Het
Rcan1 T C 16: 92,262,815 (GRCm39) D51G probably benign Het
Rem1 A G 2: 152,476,437 (GRCm39) T232A probably benign Het
Slc1a3 T A 15: 8,738,052 (GRCm39) I59F probably damaging Het
Slc6a5 T A 7: 49,561,943 (GRCm39) D158E probably damaging Het
Smarca4 A G 9: 21,611,417 (GRCm39) N1510S probably damaging Het
Taf1d T C 9: 15,222,856 (GRCm39) S241P probably benign Het
Thada T C 17: 84,499,434 (GRCm39) D1921G possibly damaging Het
Tmem147 A T 7: 30,427,445 (GRCm39) M99K possibly damaging Het
Tulp1 T C 17: 28,582,758 (GRCm39) E130G possibly damaging Het
Tyw1 T C 5: 130,296,752 (GRCm39) V123A possibly damaging Het
Wdr75 T C 1: 45,838,211 (GRCm39) V40A probably damaging Het
Zfp683 T C 4: 133,783,057 (GRCm39) Y174H probably benign Het
Other mutations in Slc23a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02517:Slc23a4 APN 6 34,931,917 (GRCm39) missense probably benign 0.05
R1501:Slc23a4 UTSW 6 34,932,057 (GRCm39) missense probably damaging 1.00
R1768:Slc23a4 UTSW 6 34,933,896 (GRCm39) missense probably damaging 1.00
R3977:Slc23a4 UTSW 6 34,930,723 (GRCm39) missense probably benign 0.08
R5632:Slc23a4 UTSW 6 34,933,957 (GRCm39) missense probably benign 0.00
R6211:Slc23a4 UTSW 6 34,933,896 (GRCm39) missense probably damaging 1.00
R6382:Slc23a4 UTSW 6 34,933,978 (GRCm39) missense probably benign 0.03
R7076:Slc23a4 UTSW 6 34,933,819 (GRCm39) missense probably damaging 0.98
R7143:Slc23a4 UTSW 6 34,955,848 (GRCm39) missense probably damaging 0.99
R7352:Slc23a4 UTSW 6 34,925,214 (GRCm39) missense possibly damaging 0.94
R8060:Slc23a4 UTSW 6 34,925,336 (GRCm39) missense probably damaging 0.98
R8405:Slc23a4 UTSW 6 34,923,145 (GRCm39) missense probably benign 0.09
R9191:Slc23a4 UTSW 6 34,925,396 (GRCm39) missense
R9282:Slc23a4 UTSW 6 34,955,861 (GRCm39) missense probably damaging 1.00
R9710:Slc23a4 UTSW 6 34,923,235 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACAAACATGCCTGTGGTCAG -3'
(R):5'- CTAAGAGGCACACTGATCCTCC -3'

Sequencing Primer
(F):5'- GGAGCACCTGGATGACCTGATC -3'
(R):5'- GAAAGAAACAGACAACTGCACG -3'
Posted On 2017-07-14