Incidental Mutation 'R4502:Slc49a4'
ID 331875
Institutional Source Beutler Lab
Gene Symbol Slc49a4
Ensembl Gene ENSMUSG00000022848
Gene Name solute carrier family 49 member 4
Synonyms Dirc2, RCC4
MMRRC Submission 041754-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R4502 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 35514432-35589726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35539787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 345 (M345V)
Ref Sequence ENSEMBL: ENSMUSP00000023554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023554] [ENSMUST00000149892]
AlphaFold Q8BFQ6
Predicted Effect probably benign
Transcript: ENSMUST00000023554
AA Change: M345V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023554
Gene: ENSMUSG00000022848
AA Change: M345V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157168
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
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
Agtr1b A C 3: 20,369,962 (GRCm39) Y215D probably damaging Het
Arf5 T C 6: 28,425,775 (GRCm39) V123A possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atm A G 9: 53,407,246 (GRCm39) V1164A possibly damaging Het
Atp6v0d1 A G 8: 106,292,430 (GRCm39) C39R probably damaging Het
Bmp8a T A 4: 123,236,192 (GRCm39) S104C probably damaging Het
Cand1 T C 10: 119,052,572 (GRCm39) T185A probably benign Het
Ccdc171 A G 4: 83,782,560 (GRCm39) E1284G probably damaging Het
Chodl A G 16: 78,728,332 (GRCm39) S26G possibly damaging Het
Cic C T 7: 24,987,892 (GRCm39) P620S probably damaging Het
Col3a1 T C 1: 45,387,837 (GRCm39) probably benign Het
Dpyd G T 3: 118,591,186 (GRCm39) G225C probably damaging Het
Dst G A 1: 34,286,772 (GRCm39) V5560M probably damaging Het
Eea1 G A 10: 95,875,427 (GRCm39) E1233K probably benign Het
Fryl T C 5: 73,245,740 (GRCm39) D1139G probably damaging Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Hc T C 2: 34,896,264 (GRCm39) D1173G probably benign Het
Htr2a T A 14: 74,879,428 (GRCm39) M19K probably benign Het
Kank4 G A 4: 98,665,335 (GRCm39) S653L possibly damaging Het
Kcnt2 G T 1: 140,435,485 (GRCm39) C484F probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Klhl1 A G 14: 96,755,282 (GRCm39) S158P probably benign Het
Ldb2 T C 5: 44,826,749 (GRCm39) D62G probably damaging Het
Ldhb T C 6: 142,436,183 (GRCm39) K329E possibly damaging Het
Mtmr7 T C 8: 41,011,203 (GRCm39) E285G possibly damaging Het
Or2p2 A T 13: 21,256,916 (GRCm39) I185N probably damaging Het
Or5k15 T C 16: 58,710,539 (GRCm39) I15V probably benign Het
Or6aa1 T A 7: 86,044,485 (GRCm39) T74S possibly damaging Het
Pi4kb T A 3: 94,903,918 (GRCm39) H501Q probably benign Het
Ppargc1b T C 18: 61,435,750 (GRCm39) K910R probably benign Het
Ppp1r12a G T 10: 108,085,339 (GRCm39) R428I probably benign Het
Rbbp8nl G T 2: 179,920,989 (GRCm39) T465N possibly damaging Het
Rpl5 T C 5: 108,052,723 (GRCm39) F223S possibly damaging Het
Scpep1 T C 11: 88,835,211 (GRCm39) K154R probably benign Het
Sil1 T C 18: 35,450,928 (GRCm39) Y249C probably benign Het
Slc12a1 T A 2: 125,067,964 (GRCm39) L1017Q probably damaging Het
Slc2a9 T C 5: 38,556,154 (GRCm39) N264S probably benign Het
Tdrd5 T A 1: 156,128,334 (GRCm39) M141L probably benign Het
Tdrd9 T C 12: 111,960,259 (GRCm39) C182R probably damaging Het
Thap4 T C 1: 93,678,709 (GRCm39) probably null Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Tnks1bp1 C T 2: 84,892,991 (GRCm39) R973* probably null Het
Ulk3 A G 9: 57,500,512 (GRCm39) Y307C probably damaging Het
Usp25 T C 16: 76,912,284 (GRCm39) L1001P probably damaging Het
Vmn2r80 A T 10: 78,984,764 (GRCm39) T39S probably benign Het
Vps33b G A 7: 79,937,655 (GRCm39) A468T possibly damaging Het
Wnt9a T C 11: 59,219,363 (GRCm39) S130P probably damaging Het
Zfp236 T C 18: 82,655,079 (GRCm39) E730G probably benign Het
Zfp689 C A 7: 127,047,925 (GRCm39) V36L probably benign Het
Zfp938 A G 10: 82,062,105 (GRCm39) S172P possibly damaging 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
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
R5278:Slc49a4 UTSW 16 35,518,358 (GRCm39) missense probably damaging 1.00
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'- AGAAGACGTACTTTCCTGTGAAC -3'
(R):5'- TGTGAGCTGTAGACTCCAAACAG -3'

Sequencing Primer
(F):5'- GACGTACTTTCCTGTGAACTGAAAGC -3'
(R):5'- TAGACTCCAAACAGTTTATAAGAGGG -3'
Posted On 2015-07-21