Incidental Mutation 'R0815:Slc38a11'
ID 78556
Institutional Source Beutler Lab
Gene Symbol Slc38a11
Ensembl Gene ENSMUSG00000061171
Gene Name solute carrier family 38, member 11
Synonyms 9330158F14Rik
MMRRC Submission 038995-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0815 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 65146774-65194378 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65184124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 176 (I176L)
Ref Sequence ENSEMBL: ENSMUSP00000121205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112420] [ENSMUST00000152324]
AlphaFold Q3USY0
Predicted Effect probably benign
Transcript: ENSMUST00000112420
AA Change: I176L

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108039
Gene: ENSMUSG00000061171
AA Change: I176L

DomainStartEndE-ValueType
Pfam:Aa_trans 32 420 1.6e-66 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000124918
AA Change: I136L
SMART Domains Protein: ENSMUSP00000120185
Gene: ENSMUSG00000061171
AA Change: I136L

DomainStartEndE-ValueType
Pfam:Aa_trans 26 381 8.5e-51 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000127623
AA Change: I100L
SMART Domains Protein: ENSMUSP00000120737
Gene: ENSMUSG00000061171
AA Change: I100L

DomainStartEndE-ValueType
Pfam:Aa_trans 1 345 1.2e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145583
Predicted Effect possibly damaging
Transcript: ENSMUST00000152324
AA Change: I176L

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121205
Gene: ENSMUSG00000061171
AA Change: I176L

DomainStartEndE-ValueType
Pfam:Aa_trans 32 367 4.8e-58 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000155962
AA Change: I173L
SMART Domains Protein: ENSMUSP00000118837
Gene: ENSMUSG00000061171
AA Change: I173L

DomainStartEndE-ValueType
Pfam:Aa_trans 30 204 1.1e-30 PFAM
Pfam:Trp_Tyr_perm 31 201 3.8e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155422
Meta Mutation Damage Score 0.4642 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly damaging Het
Other mutations in Slc38a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00668:Slc38a11 APN 2 65,184,126 (GRCm39) missense probably damaging 1.00
IGL01467:Slc38a11 APN 2 65,147,200 (GRCm39) missense probably benign 0.00
IGL02585:Slc38a11 APN 2 65,166,135 (GRCm39) missense probably benign 0.01
IGL03001:Slc38a11 APN 2 65,184,159 (GRCm39) missense probably damaging 0.97
R0458:Slc38a11 UTSW 2 65,193,813 (GRCm39) critical splice acceptor site probably null
R0514:Slc38a11 UTSW 2 65,147,209 (GRCm39) missense probably benign 0.08
R1695:Slc38a11 UTSW 2 65,147,315 (GRCm39) missense probably damaging 1.00
R1751:Slc38a11 UTSW 2 65,180,452 (GRCm39) missense probably benign 0.44
R1760:Slc38a11 UTSW 2 65,185,663 (GRCm39) splice site probably null
R1854:Slc38a11 UTSW 2 65,193,860 (GRCm39) splice site probably null
R1961:Slc38a11 UTSW 2 65,160,683 (GRCm39) missense possibly damaging 0.65
R1991:Slc38a11 UTSW 2 65,160,683 (GRCm39) missense probably benign 0.22
R2046:Slc38a11 UTSW 2 65,188,529 (GRCm39) missense probably damaging 0.99
R2078:Slc38a11 UTSW 2 65,160,728 (GRCm39) missense possibly damaging 0.81
R2103:Slc38a11 UTSW 2 65,160,683 (GRCm39) missense probably benign 0.22
R3154:Slc38a11 UTSW 2 65,160,679 (GRCm39) missense probably damaging 0.98
R4358:Slc38a11 UTSW 2 65,188,460 (GRCm39) missense probably benign 0.01
R5635:Slc38a11 UTSW 2 65,191,747 (GRCm39) critical splice acceptor site probably null
R5729:Slc38a11 UTSW 2 65,147,365 (GRCm39) missense probably benign 0.00
R6059:Slc38a11 UTSW 2 65,165,089 (GRCm39) missense probably damaging 1.00
R6755:Slc38a11 UTSW 2 65,194,235 (GRCm39) missense probably benign
R7339:Slc38a11 UTSW 2 65,156,914 (GRCm39) missense probably benign
R7360:Slc38a11 UTSW 2 65,184,139 (GRCm39) missense possibly damaging 0.95
R8397:Slc38a11 UTSW 2 65,160,635 (GRCm39) missense probably damaging 1.00
R9648:Slc38a11 UTSW 2 65,188,484 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- ACACTCAACCTTTCTTTGTCACGGTTA -3'
(R):5'- ccatctcaccagccTTGGTATGTTTC -3'

Sequencing Primer
(F):5'- ggattgccagcacccac -3'
(R):5'- TGTTGTTGTTGTTGCTTATTAACTC -3'
Posted On 2013-10-16