Incidental Mutation 'R5268:Slc36a4'
ID 399942
Institutional Source Beutler Lab
Gene Symbol Slc36a4
Ensembl Gene ENSMUSG00000043885
Gene Name solute carrier family 36 (proton/amino acid symporter), member 4
Synonyms 6330573I15Rik, PAT4
MMRRC Submission 042860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5268 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 15621034-15653684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15638212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 213 (F213L)
Ref Sequence ENSEMBL: ENSMUSP00000057355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061568] [ENSMUST00000115588]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000061568
AA Change: F213L

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000057355
Gene: ENSMUSG00000043885
AA Change: F213L

DomainStartEndE-ValueType
Pfam:Aa_trans 54 470 4.5e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115588
AA Change: F213L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000111251
Gene: ENSMUSG00000043885
AA Change: F213L

DomainStartEndE-ValueType
Pfam:Aa_trans 54 401 2e-66 PFAM
Pfam:AA_permease_2 56 371 3.7e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000214954
AA Change: F10L
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,659,444 (GRCm39) E299G probably damaging Het
Adamtsl4 C A 3: 95,587,473 (GRCm39) R701L probably damaging Het
Adgrf5 T C 17: 43,761,890 (GRCm39) V1195A probably damaging Het
Agpat5 A G 8: 18,931,878 (GRCm39) T333A possibly damaging Het
Aspm G T 1: 139,392,033 (GRCm39) G795C probably damaging Het
Car4 C A 11: 84,856,626 (GRCm39) Q305K probably benign Het
Catsperg1 T C 7: 28,894,672 (GRCm39) N612S probably benign Het
Cdc5l G A 17: 45,726,511 (GRCm39) R354W probably damaging Het
Cdh9 G A 15: 16,851,099 (GRCm39) V623I probably benign Het
Cfap65 A G 1: 74,964,061 (GRCm39) V629A probably benign Het
Chd1 G A 17: 15,956,005 (GRCm39) V535I probably damaging Het
Col12a1 A G 9: 79,585,329 (GRCm39) V1316A probably damaging Het
Col6a3 A T 1: 90,712,965 (GRCm39) D1721E unknown Het
Cop1 T A 1: 159,154,734 (GRCm39) F647L probably damaging Het
Corin A C 5: 72,500,362 (GRCm39) S421A probably damaging Het
Crb2 T C 2: 37,680,833 (GRCm39) V587A probably damaging Het
Ctc1 T A 11: 68,920,636 (GRCm39) V646E possibly damaging Het
Cyp2a12 A T 7: 26,730,643 (GRCm39) M203L probably benign Het
Dcdc2c T A 12: 28,566,656 (GRCm39) K336M possibly damaging Het
Ddx39a G A 8: 84,448,950 (GRCm39) R275H probably benign Het
Dennd2b A G 7: 109,156,519 (GRCm39) L77P probably benign Het
Des A G 1: 75,339,572 (GRCm39) N310S possibly damaging Het
Dlk1 C A 12: 109,425,764 (GRCm39) S212R probably benign Het
Dnajc5b A G 3: 19,633,224 (GRCm39) E149G probably benign Het
Dpep1 A T 8: 123,920,828 (GRCm39) I3F probably benign Het
Eml6 T A 11: 29,753,108 (GRCm39) R934S probably benign Het
Ercc6l2 T C 13: 64,016,925 (GRCm39) L676P possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Frem2 T A 3: 53,560,575 (GRCm39) I1311F probably damaging Het
Gldc T A 19: 30,123,125 (GRCm39) M257L probably damaging Het
Gm8674 T G 13: 50,055,390 (GRCm39) noncoding transcript Het
Gnai3 C T 3: 108,030,857 (GRCm39) probably null Het
Gtf3a A G 5: 146,891,965 (GRCm39) D300G probably damaging Het
Haus3 A T 5: 34,323,449 (GRCm39) V387D probably damaging Het
Hpf1 T A 8: 61,346,768 (GRCm39) F28I possibly damaging Het
Iars1 A G 13: 49,843,967 (GRCm39) D147G probably damaging Het
Ibtk A T 9: 85,625,743 (GRCm39) D2E probably benign Het
Ift140 T A 17: 25,239,601 (GRCm39) I86K possibly damaging Het
Igf2bp2 T A 16: 21,898,241 (GRCm39) I235F probably damaging Het
Ighv3-8 G T 12: 114,286,252 (GRCm39) A30E probably benign Het
Kcnq5 T A 1: 21,575,949 (GRCm39) T252S probably damaging Het
Lrrc4b A T 7: 44,110,787 (GRCm39) N220Y probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mamdc4 T C 2: 25,454,702 (GRCm39) T1037A possibly damaging Het
Mbd5 A T 2: 49,162,106 (GRCm39) I863F possibly damaging Het
Muc4 T A 16: 32,570,484 (GRCm39) S515T possibly damaging Het
Mylk4 T A 13: 32,892,864 (GRCm39) probably null Het
Neu4 G A 1: 93,952,669 (GRCm39) R346H probably benign Het
Nxpe5 T A 5: 138,238,200 (GRCm39) Y253* probably null Het
Olfml2b A T 1: 170,477,330 (GRCm39) E155V probably damaging Het
Or14a258 A G 7: 86,034,867 (GRCm39) *334Q probably null Het
Or6a2 T A 7: 106,600,111 (GRCm39) N319Y probably benign Het
Or8a1b T A 9: 37,623,300 (GRCm39) I92F probably damaging Het
Pamr1 G A 2: 102,417,029 (GRCm39) A114T probably damaging Het
Pdzd2 T A 15: 12,592,263 (GRCm39) N127I probably damaging Het
Pglyrp4 C T 3: 90,634,271 (GRCm39) L5F probably damaging Het
Plce1 T A 19: 38,747,279 (GRCm39) S1667T possibly damaging Het
Qser1 A T 2: 104,617,776 (GRCm39) V1012E possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rcn3 A T 7: 44,736,203 (GRCm39) D168E probably damaging Het
Rdh1 T G 10: 127,595,832 (GRCm39) V9G possibly damaging Het
Rin2 A G 2: 145,686,680 (GRCm39) T70A probably benign Het
Rnf207 T C 4: 152,398,346 (GRCm39) D276G probably damaging Het
Rtel1 C T 2: 180,982,354 (GRCm39) S368L probably benign Het
Slc15a5 C A 6: 138,056,751 (GRCm39) C55F probably damaging Het
Snhg16 G T 11: 116,562,582 (GRCm39) M18I probably benign Het
Spata25 C T 2: 164,669,954 (GRCm39) G19D probably damaging Het
Tas2r102 A T 6: 132,739,360 (GRCm39) L89F probably damaging Het
Tbc1d1 A G 5: 64,481,910 (GRCm39) K704E probably damaging Het
Tert T G 13: 73,775,473 (GRCm39) S75A probably damaging Het
Tiparp T A 3: 65,454,986 (GRCm39) L195Q possibly damaging Het
Tmem205 A C 9: 21,837,380 (GRCm39) Y57* probably null Het
Tomm22 A G 15: 79,555,428 (GRCm39) R5G probably benign Het
Trav10 A T 14: 53,743,515 (GRCm39) S39C probably benign Het
Trav6-2 T A 14: 52,905,205 (GRCm39) N75K probably benign Het
Trio T C 15: 27,748,372 (GRCm39) S2427G probably benign Het
Ttc41 C A 10: 86,580,342 (GRCm39) H763N possibly damaging Het
Usp29 A T 7: 6,964,583 (GRCm39) N142I probably damaging Het
Vmn1r204 G T 13: 22,740,912 (GRCm39) W181L probably damaging Het
Vmn2r76 G A 7: 85,875,267 (GRCm39) T570M probably damaging Het
Wdr90 A G 17: 26,069,819 (GRCm39) L1173P probably damaging Het
Wnt9a T A 11: 59,219,396 (GRCm39) C141S probably damaging Het
Zfp462 A T 4: 55,012,299 (GRCm39) I1422L probably benign Het
Other mutations in Slc36a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02631:Slc36a4 APN 9 15,638,237 (GRCm39) missense probably damaging 1.00
IGL03235:Slc36a4 APN 9 15,634,845 (GRCm39) missense probably damaging 1.00
R0418:Slc36a4 UTSW 9 15,645,562 (GRCm39) missense probably damaging 1.00
R1112:Slc36a4 UTSW 9 15,634,811 (GRCm39) missense possibly damaging 0.58
R1219:Slc36a4 UTSW 9 15,634,832 (GRCm39) missense probably damaging 1.00
R1858:Slc36a4 UTSW 9 15,632,006 (GRCm39) missense probably damaging 1.00
R1934:Slc36a4 UTSW 9 15,632,085 (GRCm39) missense probably damaging 0.99
R1975:Slc36a4 UTSW 9 15,645,506 (GRCm39) missense probably damaging 1.00
R1976:Slc36a4 UTSW 9 15,645,506 (GRCm39) missense probably damaging 1.00
R1977:Slc36a4 UTSW 9 15,645,506 (GRCm39) missense probably damaging 1.00
R2069:Slc36a4 UTSW 9 15,638,276 (GRCm39) missense probably damaging 0.97
R3735:Slc36a4 UTSW 9 15,649,569 (GRCm39) nonsense probably null
R4682:Slc36a4 UTSW 9 15,638,144 (GRCm39) nonsense probably null
R5244:Slc36a4 UTSW 9 15,645,574 (GRCm39) missense probably benign 0.29
R5641:Slc36a4 UTSW 9 15,640,098 (GRCm39) splice site probably null
R5888:Slc36a4 UTSW 9 15,638,324 (GRCm39) missense probably damaging 1.00
R6194:Slc36a4 UTSW 9 15,638,172 (GRCm39) nonsense probably null
R6651:Slc36a4 UTSW 9 15,634,874 (GRCm39) missense probably benign 0.00
R7023:Slc36a4 UTSW 9 15,630,929 (GRCm39) missense probably benign 0.01
R7114:Slc36a4 UTSW 9 15,633,250 (GRCm39) missense probably benign 0.04
R7263:Slc36a4 UTSW 9 15,633,452 (GRCm39) splice site probably null
R7538:Slc36a4 UTSW 9 15,645,511 (GRCm39) missense possibly damaging 0.93
R7564:Slc36a4 UTSW 9 15,638,108 (GRCm39) missense probably damaging 0.99
R7757:Slc36a4 UTSW 9 15,630,956 (GRCm39) missense possibly damaging 0.74
R8731:Slc36a4 UTSW 9 15,631,048 (GRCm39) missense possibly damaging 0.90
R8742:Slc36a4 UTSW 9 15,632,039 (GRCm39) missense probably damaging 1.00
R9352:Slc36a4 UTSW 9 15,633,319 (GRCm39) critical splice donor site probably null
R9385:Slc36a4 UTSW 9 15,645,563 (GRCm39) missense probably damaging 1.00
X0018:Slc36a4 UTSW 9 15,645,508 (GRCm39) missense possibly damaging 0.86
Z1177:Slc36a4 UTSW 9 15,632,016 (GRCm39) missense probably damaging 1.00
Z1177:Slc36a4 UTSW 9 15,630,937 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGGTCACCACTGTCACAG -3'
(R):5'- AGAGAGCTTTGCCCATGTG -3'

Sequencing Primer
(F):5'- CTGTCACAGTGAGACATTGAGTG -3'
(R):5'- TGGGAACACAGGACGGTTACC -3'
Posted On 2016-07-06