Incidental Mutation 'R7076:Slc23a4'
ID549210
Institutional Source Beutler Lab
Gene Symbol Slc23a4
Ensembl Gene ENSMUSG00000029847
Gene Namesolute carrier family 23 member 4
Synonyms2010107G12Rik, LOC243753
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7076 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location34945278-34988404 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34956884 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 95 (S95P)
Ref Sequence ENSEMBL: ENSMUSP00000041436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044387] [ENSMUST00000144079] [ENSMUST00000201355]
Predicted Effect probably damaging
Transcript: ENSMUST00000044387
AA Change: S95P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041436
Gene: ENSMUSG00000029847
AA Change: S95P

DomainStartEndE-ValueType
Pfam:Xan_ur_permease 2 282 2.2e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000144079
AA Change: S95P

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122803
Gene: ENSMUSG00000029847
AA Change: S95P

DomainStartEndE-ValueType
Pfam:Xan_ur_permease 2 249 2.7e-42 PFAM
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 possibly damaging
Transcript: ENSMUST00000201355
AA Change: S228P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144387
Gene: ENSMUSG00000029847
AA Change: S228P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A G 8: 55,871,659 C587R probably damaging Het
Adgrg7 T C 16: 56,742,406 T523A probably damaging Het
Arrdc3 A T 13: 80,890,696 K259M probably damaging Het
Becn1 A T 11: 101,295,324 N151K probably benign Het
Cars2 C T 8: 11,529,649 E270K probably damaging Het
Ccp110 C A 7: 118,732,405 P943Q probably damaging Het
Ccser2 A G 14: 36,939,829 I466T probably benign Het
Cd164 A G 10: 41,523,197 E94G probably benign Het
Cdon C T 9: 35,504,150 T1228I probably benign Het
Cubn C A 2: 13,306,280 V3145L probably benign Het
Cubn T A 2: 13,306,281 K3144N probably benign Het
Dchs1 A G 7: 105,761,871 V1649A probably benign Het
Dgka A T 10: 128,733,583 D153E probably damaging Het
Dip2b A G 15: 100,157,972 probably null Het
Dnajc21 T C 15: 10,449,631 T435A probably benign Het
F830016B08Rik A T 18: 60,300,471 I209F probably damaging Het
Ghdc C A 11: 100,769,714 S111I possibly damaging Het
Gm19965 T C 1: 116,821,275 C229R Het
Gpm6a C T 8: 55,037,451 T54I probably damaging Het
Gpr171 G T 3: 59,098,156 A66E probably damaging Het
Grm7 A G 6: 111,358,152 D508G probably benign Het
Has1 G A 17: 17,843,806 R524C probably damaging Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Ighv3-8 A T 12: 114,322,782 L7Q probably damaging Het
Ints10 A T 8: 68,796,751 R78* probably null Het
Itpr1 A G 6: 108,388,296 I903V probably benign Het
Lrp1 A G 10: 127,550,183 probably null Het
Mki67 A G 7: 135,705,629 V132A probably damaging Het
Myh4 A G 11: 67,253,173 E1123G possibly damaging Het
Neurog3 A G 10: 62,133,580 T40A probably benign Het
Nipsnap3b T A 4: 53,021,095 probably null Het
Nr4a3 G A 4: 48,055,957 V328I probably damaging Het
Olfr1489 G T 19: 13,633,880 M256I possibly damaging Het
Olfr313 G A 11: 58,817,164 R52Q probably benign Het
Olfr487 A T 7: 108,211,998 V177D probably damaging Het
Olfr654 A T 7: 104,588,223 S140C probably damaging Het
Olfr716 T C 7: 107,148,029 F238L probably damaging Het
Olfr743 T A 14: 50,533,821 Y136* probably null Het
Osbpl5 A G 7: 143,709,840 L102P probably benign Het
Ppl C T 16: 5,100,119 R503Q probably damaging Het
Ppp2r2d T C 7: 138,876,597 M321T possibly damaging Het
Prex1 T C 2: 166,633,382 Y197C probably damaging Het
Prss32 A G 17: 23,853,921 D42G possibly damaging Het
Ralgapa1 T C 12: 55,721,576 E1210G possibly damaging Het
Sdr16c5 A G 4: 4,006,591 C234R probably damaging Het
Srp14 T C 2: 118,479,390 T29A probably damaging Het
Tet2 T A 3: 133,467,023 H1826L possibly damaging Het
Tfr2 A T 5: 137,583,574 Y641F probably damaging Het
Tmco5b A G 2: 113,287,421 N27D probably damaging Het
Tvp23a T C 16: 10,428,735 D62G probably benign Het
Usp12 A G 5: 146,737,752 F347S possibly damaging Het
Zfp407 A T 18: 84,558,476 L1504Q probably damaging Het
Zfp524 A G 7: 5,017,896 D141G possibly damaging Het
Zfp68 A G 5: 138,606,939 I374T possibly damaging Het
Zfp758 C T 17: 22,375,156 H208Y probably benign Het
Zfp804b T C 5: 6,769,751 H1104R probably benign Het
Znrf2 T A 6: 54,842,695 *75K probably null Het
Zzef1 T C 11: 72,899,559 V2113A probably benign Het
Other mutations in Slc23a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02517:Slc23a4 APN 6 34954982 missense probably benign 0.05
R1501:Slc23a4 UTSW 6 34955122 missense probably damaging 1.00
R1768:Slc23a4 UTSW 6 34956961 missense probably damaging 1.00
R3977:Slc23a4 UTSW 6 34953788 missense probably benign 0.08
R5632:Slc23a4 UTSW 6 34957022 missense probably benign 0.00
R6072:Slc23a4 UTSW 6 34948422 missense probably benign 0.01
R6211:Slc23a4 UTSW 6 34956961 missense probably damaging 1.00
R6382:Slc23a4 UTSW 6 34957043 missense probably benign 0.03
R7143:Slc23a4 UTSW 6 34978913 missense probably damaging 0.99
R7352:Slc23a4 UTSW 6 34948279 missense possibly damaging 0.94
R8060:Slc23a4 UTSW 6 34948401 missense probably damaging 0.98
R8405:Slc23a4 UTSW 6 34946210 missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GACCGGTAGAGCCAAGTTTTC -3'
(R):5'- CAGGTGTAATCAGGTTGGGCAG -3'

Sequencing Primer
(F):5'- CCGGTAGAGCCAAGTTTTCATAAAC -3'
(R):5'- TTTCCTCCAGCTGCAGGG -3'
Posted On2019-05-15