Incidental Mutation 'R2246:Slc38a7'
ID 240865
Institutional Source Beutler Lab
Gene Symbol Slc38a7
Ensembl Gene ENSMUSG00000036534
Gene Name solute carrier family 38, member 7
Synonyms
MMRRC Submission 040246-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R2246 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 96562548-96580167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96570468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 269 (M269K)
Ref Sequence ENSEMBL: ENSMUSP00000148659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040481] [ENSMUST00000212270] [ENSMUST00000212628]
AlphaFold Q8BWH0
Predicted Effect probably damaging
Transcript: ENSMUST00000040481
AA Change: M269K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037023
Gene: ENSMUSG00000036534
AA Change: M269K

DomainStartEndE-ValueType
Pfam:Trp_Tyr_perm 49 334 3.4e-12 PFAM
Pfam:Aa_trans 49 457 3.1e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153835
Predicted Effect probably damaging
Transcript: ENSMUST00000212270
AA Change: M269K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212628
AA Change: M269K

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T G 6: 85,599,949 (GRCm39) S1592A possibly damaging Het
Anapc16 G T 10: 59,832,298 (GRCm39) Y38* probably null Het
Clec7a T A 6: 129,444,532 (GRCm39) H101L probably benign Het
Cwf19l2 A G 9: 3,430,661 (GRCm39) D331G probably benign Het
Dcaf1 A G 9: 106,731,376 (GRCm39) T618A possibly damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Fn1 A T 1: 71,667,694 (GRCm39) D766E probably benign Het
Ggta1 T C 2: 35,292,121 (GRCm39) *395W probably null Het
Grik2 C T 10: 49,411,532 (GRCm39) R202H probably damaging Het
Hcls1 G T 16: 36,782,984 (GRCm39) S445I probably damaging Het
Hip1 A C 5: 135,481,698 (GRCm39) S166R probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igsf9 T A 1: 172,319,216 (GRCm39) S236R probably benign Het
Knl1 C T 2: 118,902,708 (GRCm39) P1470S probably damaging Het
Ldb3 A T 14: 34,251,432 (GRCm39) H675Q probably damaging Het
Or10ab4 C T 7: 107,654,989 (GRCm39) R267C probably benign Het
Or10ag57 T A 2: 87,218,195 (GRCm39) S49T probably benign Het
Or6c3b A G 10: 129,527,812 (GRCm39) Y33H probably damaging Het
Palld T C 8: 62,330,169 (GRCm39) D236G probably benign Het
Pank3 A G 11: 35,674,333 (GRCm39) K332R probably benign Het
Phaf1 T A 8: 105,973,132 (GRCm39) D247E possibly damaging Het
Pramel11 A G 4: 143,623,790 (GRCm39) V128A probably benign Het
Prrc2c A G 1: 162,535,360 (GRCm39) probably benign Het
Ror2 C T 13: 53,265,638 (GRCm39) G473S probably damaging Het
Shisal1 T A 15: 84,301,400 (GRCm39) H81L probably damaging Het
Slc15a2 A T 16: 36,582,723 (GRCm39) Y222N probably damaging Het
Srrd A T 5: 112,487,622 (GRCm39) L159H probably damaging Het
Tap2 C A 17: 34,427,775 (GRCm39) S218Y possibly damaging Het
Tex15 G A 8: 34,072,540 (GRCm39) V2696I possibly damaging Het
Tmem67 G A 4: 12,040,651 (GRCm39) T1030I probably damaging Het
Traf5 T C 1: 191,751,190 (GRCm39) probably null Het
Try4 C T 6: 41,282,406 (GRCm39) T242I possibly damaging Het
Ubqln3 C T 7: 103,791,518 (GRCm39) V191I probably damaging Het
Vmn2r67 T C 7: 84,785,764 (GRCm39) Y747C probably damaging Het
Wipf3 C T 6: 54,466,058 (GRCm39) P439S probably damaging Het
Zbed5 A T 5: 129,931,592 (GRCm39) M514L probably benign Het
Zfp592 A G 7: 80,691,361 (GRCm39) D1180G possibly damaging Het
Zfyve9 A T 4: 108,546,461 (GRCm39) D790E possibly damaging Het
Zkscan16 A G 4: 58,957,329 (GRCm39) K537R probably benign Het
Other mutations in Slc38a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Slc38a7 APN 8 96,567,105 (GRCm39) unclassified probably benign
IGL00816:Slc38a7 APN 8 96,570,748 (GRCm39) missense probably damaging 1.00
IGL01781:Slc38a7 APN 8 96,570,386 (GRCm39) critical splice donor site probably null
IGL01990:Slc38a7 APN 8 96,571,590 (GRCm39) nonsense probably null
IGL02424:Slc38a7 APN 8 96,568,200 (GRCm39) missense probably damaging 1.00
IGL02932:Slc38a7 APN 8 96,572,783 (GRCm39) missense probably damaging 1.00
IGL03277:Slc38a7 APN 8 96,575,104 (GRCm39) missense probably damaging 1.00
R0082:Slc38a7 UTSW 8 96,567,109 (GRCm39) unclassified probably benign
R0271:Slc38a7 UTSW 8 96,572,506 (GRCm39) missense probably damaging 0.98
R1479:Slc38a7 UTSW 8 96,575,122 (GRCm39) missense probably benign
R2897:Slc38a7 UTSW 8 96,572,424 (GRCm39) splice site probably benign
R2920:Slc38a7 UTSW 8 96,572,571 (GRCm39) missense possibly damaging 0.85
R3746:Slc38a7 UTSW 8 96,570,380 (GRCm39) splice site probably benign
R3884:Slc38a7 UTSW 8 96,572,809 (GRCm39) missense probably damaging 1.00
R4885:Slc38a7 UTSW 8 96,575,230 (GRCm39) missense probably benign
R5073:Slc38a7 UTSW 8 96,568,278 (GRCm39) missense probably damaging 1.00
R6249:Slc38a7 UTSW 8 96,564,302 (GRCm39) splice site probably null
R6379:Slc38a7 UTSW 8 96,575,155 (GRCm39) missense probably benign
R6821:Slc38a7 UTSW 8 96,571,548 (GRCm39) missense probably benign 0.25
R7735:Slc38a7 UTSW 8 96,568,295 (GRCm39) missense probably benign 0.00
R9668:Slc38a7 UTSW 8 96,570,772 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAGCTCAACTCGAGTCAATAC -3'
(R):5'- AGACAGGATGGTTGGATCCCTG -3'

Sequencing Primer
(F):5'- CACTGAGTTAAGAGTACAGAGCTTC -3'
(R):5'- TCCCTGGGGAAATGGATGAACC -3'
Posted On 2014-10-15