Incidental Mutation 'R9472:Slc38a8'
ID 715526
Institutional Source Beutler Lab
Gene Symbol Slc38a8
Ensembl Gene ENSMUSG00000034224
Gene Name solute carrier family 38, member 8
Synonyms LOC234788
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R9472 (G1)
Quality Score 173.009
Status Not validated
Chromosome 8
Chromosomal Location 120206341-120228437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120227888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 14 (K14M)
Ref Sequence ENSEMBL: ENSMUSP00000038438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036748] [ENSMUST00000133821] [ENSMUST00000138061]
AlphaFold Q5HZH7
Predicted Effect probably damaging
Transcript: ENSMUST00000036748
AA Change: K14M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038438
Gene: ENSMUSG00000034224
AA Change: K14M

DomainStartEndE-ValueType
Pfam:Aa_trans 22 429 3.7e-58 PFAM
Pfam:Trp_Tyr_perm 23 264 1.1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133821
AA Change: K14M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123094
Gene: ENSMUSG00000034224
AA Change: K14M

DomainStartEndE-ValueType
Pfam:Trp_Tyr_perm 22 163 2.1e-10 PFAM
Pfam:Aa_trans 22 165 3.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138061
AA Change: K14M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119987
Gene: ENSMUSG00000034224
AA Change: K14M

DomainStartEndE-ValueType
Pfam:Aa_trans 22 202 2.2e-25 PFAM
Pfam:Trp_Tyr_perm 23 196 1.2e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T G 8: 25,127,248 (GRCm39) K449N probably benign Het
Adam39 G A 8: 41,279,351 (GRCm39) V581I possibly damaging Het
Agrn A G 4: 156,254,841 (GRCm39) F1625S Het
Aox3 G T 1: 58,215,669 (GRCm39) V1034L possibly damaging Het
Baz2a T G 10: 127,948,624 (GRCm39) S302A probably benign Het
Capn9 T C 8: 125,325,534 (GRCm39) probably null Het
Ccdc153 A T 9: 44,154,923 (GRCm39) Q104L possibly damaging Het
Cdh1 A T 8: 107,380,248 (GRCm39) N168I probably damaging Het
Crisp3 A T 17: 40,539,676 (GRCm39) probably null Het
Ctsb T C 14: 63,379,186 (GRCm39) V266A probably damaging Het
Cyp2c39 G T 19: 39,502,043 (GRCm39) R144L probably damaging Het
Elmo1 C T 13: 20,470,897 (GRCm39) A263V probably benign Het
Enkur T C 2: 21,201,590 (GRCm39) R32G possibly damaging Het
Fsip2 T A 2: 82,817,285 (GRCm39) N4339K possibly damaging Het
Gsn T G 2: 35,182,741 (GRCm39) M268R probably damaging Het
Herc2 T A 7: 55,813,843 (GRCm39) W2659R probably damaging Het
Hycc2 A G 1: 58,574,641 (GRCm39) V300A possibly damaging Het
Ino80e A G 7: 126,461,127 (GRCm39) V40A unknown Het
Ints2 T C 11: 86,133,824 (GRCm39) T409A Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kat2a A G 11: 100,596,197 (GRCm39) V787A probably benign Het
Klhl32 A G 4: 24,629,273 (GRCm39) V465A probably benign Het
Kmt2a C A 9: 44,733,453 (GRCm39) R2288L unknown Het
Megf6 G A 4: 154,333,910 (GRCm39) G213S probably damaging Het
Mt2 T A 8: 94,899,999 (GRCm39) C44S probably damaging Het
Nfe2l1 A G 11: 96,710,159 (GRCm39) V690A probably damaging Het
Obscn T C 11: 58,894,495 (GRCm39) H6670R Het
Or4c111 A C 2: 88,843,517 (GRCm39) I297S possibly damaging Het
Orc4 T C 2: 48,795,563 (GRCm39) T388A probably benign Het
Pcdhb17 C A 18: 37,618,919 (GRCm39) N236K probably damaging Het
Phlpp1 T C 1: 106,308,079 (GRCm39) S1119P probably damaging Het
Plppr3 T C 10: 79,702,711 (GRCm39) D184G probably damaging Het
Rassf6 A T 5: 90,765,572 (GRCm39) Y46* probably null Het
Rmdn2 T A 17: 79,989,096 (GRCm39) I405N possibly damaging Het
Rsbn1l A C 5: 21,113,119 (GRCm39) S468A probably damaging Het
Rslcan18 T C 13: 67,260,296 (GRCm39) K34E probably benign Het
Runx3 A G 4: 134,898,441 (GRCm39) D204G probably damaging Het
Sbf2 A G 7: 109,970,798 (GRCm39) I866T possibly damaging Het
Sgtb A C 13: 104,247,681 (GRCm39) E28D probably benign Het
Spast T C 17: 74,681,143 (GRCm39) V478A probably damaging Het
Stxbp5 T C 10: 9,719,101 (GRCm39) T147A probably damaging Het
Tmem208 T C 8: 106,055,027 (GRCm39) F79S probably damaging Het
Tmprss7 T C 16: 45,501,052 (GRCm39) I250V probably benign Het
Usp24 A G 4: 106,261,128 (GRCm39) T1628A probably benign Het
Vmn2r14 G T 5: 109,367,962 (GRCm39) N343K probably benign Het
Xrcc6 T A 15: 81,913,328 (GRCm39) Y320* probably null Het
Zbtb10 A C 3: 9,343,355 (GRCm39) T627P probably benign Het
Zfp532 A T 18: 65,756,624 (GRCm39) K186* probably null Het
Other mutations in Slc38a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Slc38a8 APN 8 120,220,958 (GRCm39) missense probably benign 0.01
IGL02167:Slc38a8 APN 8 120,214,099 (GRCm39) missense probably benign 0.03
IGL02565:Slc38a8 APN 8 120,212,300 (GRCm39) missense probably damaging 1.00
IGL02899:Slc38a8 APN 8 120,212,282 (GRCm39) missense probably benign 0.34
IGL03177:Slc38a8 APN 8 120,212,251 (GRCm39) missense probably damaging 1.00
IGL03282:Slc38a8 APN 8 120,226,455 (GRCm39) missense probably damaging 0.99
R1109:Slc38a8 UTSW 8 120,209,394 (GRCm39) missense probably benign
R1116:Slc38a8 UTSW 8 120,222,872 (GRCm39) missense probably damaging 1.00
R2247:Slc38a8 UTSW 8 120,212,389 (GRCm39) missense probably benign 0.00
R4964:Slc38a8 UTSW 8 120,209,423 (GRCm39) splice site probably null
R5294:Slc38a8 UTSW 8 120,221,028 (GRCm39) missense probably damaging 1.00
R5303:Slc38a8 UTSW 8 120,212,780 (GRCm39) missense possibly damaging 0.66
R5430:Slc38a8 UTSW 8 120,220,959 (GRCm39) missense probably benign 0.16
R5643:Slc38a8 UTSW 8 120,207,488 (GRCm39) makesense probably null
R6016:Slc38a8 UTSW 8 120,221,044 (GRCm39) splice site probably null
R7346:Slc38a8 UTSW 8 120,226,554 (GRCm39) nonsense probably null
R7425:Slc38a8 UTSW 8 120,212,327 (GRCm39) missense possibly damaging 0.89
R7502:Slc38a8 UTSW 8 120,227,820 (GRCm39) missense possibly damaging 0.60
R8081:Slc38a8 UTSW 8 120,212,269 (GRCm39) missense possibly damaging 0.54
R9083:Slc38a8 UTSW 8 120,212,780 (GRCm39) missense probably benign 0.11
R9109:Slc38a8 UTSW 8 120,212,851 (GRCm39) missense possibly damaging 0.54
R9298:Slc38a8 UTSW 8 120,212,851 (GRCm39) missense possibly damaging 0.54
R9595:Slc38a8 UTSW 8 120,209,403 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TAAGGATCCTACCAGGGAGAGC -3'
(R):5'- CATGGCTGGCTTTGGAAGAG -3'

Sequencing Primer
(F):5'- TCCTACCAGGGAGAGCCAGAG -3'
(R):5'- CTGGCTTTGGAAGAGGAGAAG -3'
Posted On 2022-06-15