Incidental Mutation 'R5278:Slc49a4'
ID 404072
Institutional Source Beutler Lab
Gene Symbol Slc49a4
Ensembl Gene ENSMUSG00000022848
Gene Name solute carrier family 49 member 4
Synonyms Dirc2, RCC4
MMRRC Submission 042865-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R5278 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 35514432-35589726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35518358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 452 (S452P)
Ref Sequence ENSEMBL: ENSMUSP00000023554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023554] [ENSMUST00000149892]
AlphaFold Q8BFQ6
Predicted Effect probably damaging
Transcript: ENSMUST00000023554
AA Change: S452P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023554
Gene: ENSMUSG00000022848
AA Change: S452P

DomainStartEndE-ValueType
low complexity region 8 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
transmembrane domain 90 111 N/A INTRINSIC
transmembrane domain 116 138 N/A INTRINSIC
transmembrane domain 148 170 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
transmembrane domain 231 250 N/A INTRINSIC
low complexity region 251 258 N/A INTRINSIC
transmembrane domain 280 302 N/A INTRINSIC
transmembrane domain 317 339 N/A INTRINSIC
transmembrane domain 344 366 N/A INTRINSIC
transmembrane domain 381 403 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 441 463 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149892
SMART Domains Protein: ENSMUSP00000120775
Gene: ENSMUSG00000022848

DomainStartEndE-ValueType
low complexity region 8 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
transmembrane domain 90 111 N/A INTRINSIC
Meta Mutation Damage Score 0.6330 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 C T 5: 35,745,500 (GRCm39) probably benign Het
Acvr2b G A 9: 119,261,555 (GRCm39) V383I probably damaging Het
Akap12 T C 10: 4,304,792 (GRCm39) M534T probably benign Het
Akp3 G A 1: 87,052,888 (GRCm39) E26K probably benign Het
Alcam A G 16: 52,094,638 (GRCm39) I371T probably benign Het
Ap2a1 T C 7: 44,552,203 (GRCm39) T794A probably benign Het
Apeh G A 9: 107,968,457 (GRCm39) P349S probably benign Het
Asb7 G T 7: 66,328,933 (GRCm39) Q36K possibly damaging Het
Asl A G 5: 130,047,672 (GRCm39) probably null Het
Atp13a2 T A 4: 140,728,129 (GRCm39) I574N probably damaging Het
Bcl2l2 T A 14: 55,122,251 (GRCm39) I138N probably damaging Het
Cacna1d C T 14: 30,074,881 (GRCm39) probably null Het
Ccdc9 C T 7: 16,012,306 (GRCm39) W1* probably null Het
Cdh18 T A 15: 23,474,244 (GRCm39) S705T probably benign Het
Ces5a A T 8: 94,252,266 (GRCm39) W209R probably damaging Het
Chpf2 T A 5: 24,793,088 (GRCm39) probably benign Het
Cul9 T A 17: 46,821,799 (GRCm39) H1892L probably damaging Het
Cxcl13 A G 5: 96,106,586 (GRCm39) T53A probably benign Het
Cyp2s1 T A 7: 25,505,309 (GRCm39) Y385F possibly damaging Het
Ddx46 A G 13: 55,823,851 (GRCm39) E915G probably damaging Het
Elovl3 G A 19: 46,122,540 (GRCm39) V113I probably benign Het
Fam53c A T 18: 34,895,671 (GRCm39) probably benign Het
Fbxw15 A T 9: 109,384,752 (GRCm39) F349L probably benign Het
Fuz C T 7: 44,545,701 (GRCm39) P9L probably benign Het
Igf1r C T 7: 67,843,166 (GRCm39) T759M possibly damaging Het
Impg2 G A 16: 56,041,880 (GRCm39) D175N probably benign Het
Jade1 G T 3: 41,543,444 (GRCm39) R43L possibly damaging Het
Kntc1 A G 5: 123,919,077 (GRCm39) E816G probably damaging Het
Mettl8 A T 2: 70,803,641 (GRCm39) D262E probably damaging Het
Mrpl48 A G 7: 100,201,790 (GRCm39) V156A probably damaging Het
Mst1 A C 9: 107,959,414 (GRCm39) K233N probably damaging Het
Myh13 A G 11: 67,225,390 (GRCm39) I252V probably benign Het
Nox4 T C 7: 87,021,134 (GRCm39) W449R probably damaging Het
Or2a52 T C 6: 43,144,655 (GRCm39) L221P probably damaging Het
Or2l5 A T 16: 19,334,128 (GRCm39) L86* probably null Het
Pank4 T C 4: 155,056,622 (GRCm39) L351P probably damaging Het
Pappa2 A T 1: 158,609,973 (GRCm39) probably null Het
Peg10 CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC CCATCAGGATGCACATCAGGATCC 6: 4,756,442 (GRCm39) probably benign Het
Polr3e T A 7: 120,522,184 (GRCm39) I10K possibly damaging Het
Prkdc T C 16: 15,532,838 (GRCm39) I1489T probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sh3pxd2b A G 11: 32,331,447 (GRCm39) D57G probably damaging Het
Shank2 G A 7: 143,622,612 (GRCm39) probably null Het
Slc15a4 A T 5: 127,694,033 (GRCm39) V134E probably damaging Het
Stxbp5l G T 16: 37,007,016 (GRCm39) Q726K probably benign Het
Tesk2 T G 4: 116,663,133 (GRCm39) probably benign Het
Tex2 A G 11: 106,458,639 (GRCm39) S264P probably benign Het
Tnik A G 3: 28,704,209 (GRCm39) Q1003R probably damaging Het
Trip12 C T 1: 84,739,868 (GRCm39) R628H probably damaging Het
Vmn2r69 G A 7: 85,060,991 (GRCm39) H198Y probably benign Het
Other mutations in Slc49a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02505:Slc49a4 APN 16 35,555,928 (GRCm39) missense probably benign 0.01
IGL02990:Slc49a4 APN 16 35,555,861 (GRCm39) missense possibly damaging 0.68
R0166:Slc49a4 UTSW 16 35,539,684 (GRCm39) missense possibly damaging 0.49
R0319:Slc49a4 UTSW 16 35,570,884 (GRCm39) missense probably benign 0.01
R0323:Slc49a4 UTSW 16 35,539,730 (GRCm39) frame shift probably null
R0497:Slc49a4 UTSW 16 35,555,974 (GRCm39) missense probably benign 0.40
R1240:Slc49a4 UTSW 16 35,518,379 (GRCm39) missense probably benign 0.00
R1460:Slc49a4 UTSW 16 35,539,736 (GRCm39) missense probably benign 0.25
R2115:Slc49a4 UTSW 16 35,518,309 (GRCm39) missense probably benign 0.17
R4502:Slc49a4 UTSW 16 35,539,787 (GRCm39) missense probably benign 0.00
R4503:Slc49a4 UTSW 16 35,539,787 (GRCm39) missense probably benign 0.00
R4563:Slc49a4 UTSW 16 35,518,312 (GRCm39) missense probably damaging 1.00
R4834:Slc49a4 UTSW 16 35,555,945 (GRCm39) missense probably benign 0.08
R5651:Slc49a4 UTSW 16 35,555,986 (GRCm39) missense probably benign 0.25
R5717:Slc49a4 UTSW 16 35,539,799 (GRCm39) missense probably benign 0.00
R5947:Slc49a4 UTSW 16 35,550,676 (GRCm39) missense probably benign 0.14
R6176:Slc49a4 UTSW 16 35,525,167 (GRCm39) missense probably benign
R7155:Slc49a4 UTSW 16 35,555,947 (GRCm39) missense probably benign 0.02
R7450:Slc49a4 UTSW 16 35,589,344 (GRCm39) missense possibly damaging 0.76
R7645:Slc49a4 UTSW 16 35,554,438 (GRCm39) critical splice acceptor site probably null
R7905:Slc49a4 UTSW 16 35,589,320 (GRCm39) missense probably benign 0.33
R8425:Slc49a4 UTSW 16 35,555,967 (GRCm39) missense probably benign 0.01
R8670:Slc49a4 UTSW 16 35,556,005 (GRCm39) missense possibly damaging 0.76
R8827:Slc49a4 UTSW 16 35,554,320 (GRCm39) missense probably benign 0.01
R9022:Slc49a4 UTSW 16 35,570,912 (GRCm39) missense probably benign 0.00
R9421:Slc49a4 UTSW 16 35,518,372 (GRCm39) missense
R9779:Slc49a4 UTSW 16 35,543,186 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- TGCTGTCCACAGAGTTTTCAC -3'
(R):5'- TGAAAATCTGGTAATACCTCACACC -3'

Sequencing Primer
(F):5'- ACAGAGTTTTCACATCCTCACG -3'
(R):5'- ACTTAGCCTCCAGACCGG -3'
Posted On 2016-07-22