Incidental Mutation 'R6176:Slc49a4'
ID 487787
Institutional Source Beutler Lab
Gene Symbol Slc49a4
Ensembl Gene ENSMUSG00000022848
Gene Name solute carrier family 49 member 4
Synonyms Dirc2, RCC4
MMRRC Submission 044318-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R6176 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 35514432-35589726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35525167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 426 (M426I)
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: M426I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023554
Gene: ENSMUSG00000022848
AA Change: M426I

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (60/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T C 4: 63,295,969 (GRCm39) Q966R probably benign Het
Amn A G 12: 111,240,590 (GRCm39) D74G possibly damaging Het
Ank2 T A 3: 126,739,120 (GRCm39) T2255S probably benign Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Apaf1 A G 10: 90,895,433 (GRCm39) probably null Het
Asl T A 5: 130,047,720 (GRCm39) H82L probably benign Het
Atrn A G 2: 130,788,011 (GRCm39) E271G probably benign Het
B4galnt3 A G 6: 120,201,125 (GRCm39) F184S probably damaging Het
C1s2 T A 6: 124,602,768 (GRCm39) H481L probably damaging Het
Cav2 A G 6: 17,286,918 (GRCm39) D58G possibly damaging Het
Cc2d2a A T 5: 43,866,455 (GRCm39) H755L probably benign Het
Ccdc65 A G 15: 98,606,433 (GRCm39) probably null Het
Celsr3 A T 9: 108,705,554 (GRCm39) Y679F probably damaging Het
Cep135 A T 5: 76,772,490 (GRCm39) Y625F probably benign Het
Cfhr1 A G 1: 139,478,654 (GRCm39) S58P probably damaging Het
Clip4 T A 17: 72,113,628 (GRCm39) C259* probably null Het
Cyp2j12 T A 4: 96,029,074 (GRCm39) Q69L probably damaging Het
Dock3 G A 9: 106,790,147 (GRCm39) T1484I probably benign Het
Ecscr CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 18: 35,849,813 (GRCm39) probably benign Het
Efcab3 A T 11: 104,683,383 (GRCm39) I1604F probably benign Het
Fam43b T C 4: 138,122,522 (GRCm39) D266G probably damaging Het
Fbxl13 T A 5: 21,705,498 (GRCm39) I618F possibly damaging Het
Gne C T 4: 44,053,019 (GRCm39) probably benign Het
Gnpat T A 8: 125,605,593 (GRCm39) V321E probably damaging Het
Gpatch8 G A 11: 102,378,350 (GRCm39) A200V unknown Het
Grid1 C A 14: 35,284,504 (GRCm39) A749E probably benign Het
Grip2 C T 6: 91,756,832 (GRCm39) V540I probably benign Het
Ice2 C T 9: 69,324,354 (GRCm39) T759M probably damaging Het
Jrk G T 15: 74,578,189 (GRCm39) N365K possibly damaging Het
Kank4 A G 4: 98,653,791 (GRCm39) I879T probably damaging Het
Krtap20-1 T A 16: 88,812,288 (GRCm39) Y24* probably null Het
Lao1 T A 4: 118,819,197 (GRCm39) M1K probably null Het
Mlf1 A G 3: 67,291,927 (GRCm39) R31G probably damaging Het
Nt5c3b T C 11: 100,330,974 (GRCm39) probably benign Het
Nusap1 A G 2: 119,460,902 (GRCm39) R132G probably benign Het
Or11g1 A G 14: 50,651,847 (GRCm39) Y282C probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5w20 G A 2: 87,727,280 (GRCm39) V254I probably benign Het
Or8d2b A C 9: 38,788,673 (GRCm39) D67A probably damaging Het
Paqr9 G T 9: 95,442,828 (GRCm39) V273L possibly damaging Het
Pcdha9 A T 18: 37,131,984 (GRCm39) D351V probably benign Het
Pcdhga1 A G 18: 37,797,282 (GRCm39) D762G probably benign Het
Pde3a T A 6: 141,444,615 (GRCm39) L1141Q possibly damaging Het
Pga5 T A 19: 10,649,149 (GRCm39) probably null Het
Phldb3 C A 7: 24,326,127 (GRCm39) R570S probably damaging Het
Slc22a6 A C 19: 8,599,161 (GRCm39) E264A probably damaging Het
Slit1 T C 19: 41,626,034 (GRCm39) K576R probably damaging Het
Sox21 T C 14: 118,473,040 (GRCm39) K3R possibly damaging Het
Stk32c A T 7: 138,700,691 (GRCm39) D297E probably benign Het
Suclg1 T C 6: 73,252,326 (GRCm39) V323A probably damaging Het
Tas1r2 T G 4: 139,396,199 (GRCm39) C513G probably damaging Het
Tbc1d23 A G 16: 56,992,152 (GRCm39) Y603H probably damaging Het
Tbc1d31 T C 15: 57,816,192 (GRCm39) V642A probably damaging Het
Tle2 A T 10: 81,423,168 (GRCm39) D486V probably damaging Het
Tmem232 A G 17: 65,792,867 (GRCm39) I110T probably damaging Het
Tmem39b A G 4: 129,586,894 (GRCm39) Y106H probably damaging Het
Trpm4 T G 7: 44,976,100 (GRCm39) N229T probably damaging Het
Tspo A G 15: 83,458,007 (GRCm39) T120A probably benign Het
Ttc28 G A 5: 111,371,851 (GRCm39) A767T probably damaging Het
Usp53 G A 3: 122,727,652 (GRCm39) Q977* probably null Het
Vmn1r215 T A 13: 23,260,528 (GRCm39) D189E probably damaging Het
Vmn2r12 T C 5: 109,233,866 (GRCm39) Y782C probably benign Het
Vmn2r54 A G 7: 12,349,908 (GRCm39) L558P probably damaging Het
Zfp268 T A 4: 145,350,628 (GRCm39) C688* probably null 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
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
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'- GCCCATGGACACACTTCAAG -3'
(R):5'- CGTCCGTGAACTAAAGCCTGTG -3'

Sequencing Primer
(F):5'- CACTGTTTGTACTAGCATGTGAATG -3'
(R):5'- CCGTGAACTAAAGCCTGTGTGTTC -3'
Posted On 2017-10-10