Incidental Mutation 'R1112:Slc36a4'
ID 96841
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 039185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1112 (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 A at 15634811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 118 (F118I)
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: F118I

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000057355
Gene: ENSMUSG00000043885
AA Change: F118I

DomainStartEndE-ValueType
Pfam:Aa_trans 54 470 4.5e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115588
AA Change: F118I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000111251
Gene: ENSMUSG00000043885
AA Change: F118I

DomainStartEndE-ValueType
Pfam:Aa_trans 54 401 2e-66 PFAM
Pfam:AA_permease_2 56 371 3.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214954
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak7 A G 12: 105,679,831 (GRCm39) N122D probably benign Het
Arb2a A G 13: 77,910,005 (GRCm39) Y40C probably damaging Het
Atrn A G 2: 130,841,081 (GRCm39) D1161G probably benign Het
Bscl2 G C 19: 8,817,098 (GRCm39) G9R possibly damaging Het
Clstn2 T C 9: 97,340,281 (GRCm39) N697S possibly damaging Het
Ctnnd2 T C 15: 30,922,026 (GRCm39) V884A probably damaging Het
Dusp10 A T 1: 183,769,097 (GRCm39) Q21L probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Foxn1 A G 11: 78,261,856 (GRCm39) F171S probably benign Het
Fxr2 A G 11: 69,543,074 (GRCm39) S624G probably damaging Het
Gorasp2 C A 2: 70,521,158 (GRCm39) P376Q probably benign Het
Gpr33 A G 12: 52,070,155 (GRCm39) S295P probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hap1 C T 11: 100,245,143 (GRCm39) V23M probably damaging Het
Hsd3b5 C T 3: 98,537,393 (GRCm39) R41Q probably benign Het
Kif1c T G 11: 70,615,641 (GRCm39) probably null Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Madd A G 2: 90,973,944 (GRCm39) C1447R probably damaging Het
Myef2 A C 2: 124,939,506 (GRCm39) M426R probably damaging Het
Myh13 A T 11: 67,245,576 (GRCm39) D1072V probably damaging Het
Or1e34 A C 11: 73,779,060 (GRCm39) L46R probably damaging Het
Or51a5 C T 7: 102,771,611 (GRCm39) D123N probably damaging Het
Orc4 A T 2: 48,823,584 (GRCm39) N90K probably damaging Het
Padi4 C T 4: 140,485,427 (GRCm39) S246N probably benign Het
Pcdhb22 A T 18: 37,652,821 (GRCm39) T430S possibly damaging Het
Prkd3 T C 17: 79,273,837 (GRCm39) D473G probably damaging Het
Scn4a T C 11: 106,211,292 (GRCm39) Y1575C probably damaging Het
Serpinb6d A G 13: 33,853,118 (GRCm39) Y170C probably damaging Het
Slc12a2 A T 18: 58,070,824 (GRCm39) I1059L probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Srpra A G 9: 35,126,255 (GRCm39) T483A probably benign Het
Sycp2 A T 2: 177,994,329 (GRCm39) D1198E probably benign Het
Ubash3b T C 9: 40,939,412 (GRCm39) N287D probably damaging Het
Uggt1 T C 1: 36,212,627 (GRCm39) D905G possibly damaging Het
Zfp692 T C 11: 58,202,388 (GRCm39) L381P probably damaging 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
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
R5268:Slc36a4 UTSW 9 15,638,212 (GRCm39) missense possibly damaging 0.74
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'- TTTGCACGCCTATGACAGGCAC -3'
(R):5'- TTGCAGCAAGGACAGAGCACAC -3'

Sequencing Primer
(F):5'- GCCTATGACAGGCACTGATAATTTG -3'
(R):5'- AGACTGCCTGACTGACTTATG -3'
Posted On 2014-01-05