Incidental Mutation 'R3154:Slc38a11'
ID 263387
Institutional Source Beutler Lab
Gene Symbol Slc38a11
Ensembl Gene ENSMUSG00000061171
Gene Name solute carrier family 38, member 11
Synonyms 9330158F14Rik
MMRRC Submission 040605-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3154 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 65146774-65194378 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65160679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 305 (C305Y)
Ref Sequence ENSEMBL: ENSMUSP00000121205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112420] [ENSMUST00000152324]
AlphaFold Q3USY0
Predicted Effect probably damaging
Transcript: ENSMUST00000112420
AA Change: C305Y

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108039
Gene: ENSMUSG00000061171
AA Change: C305Y

DomainStartEndE-ValueType
Pfam:Aa_trans 32 420 1.6e-66 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000124918
AA Change: C265Y
SMART Domains Protein: ENSMUSP00000120185
Gene: ENSMUSG00000061171
AA Change: C265Y

DomainStartEndE-ValueType
Pfam:Aa_trans 26 381 8.5e-51 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000127623
AA Change: C229Y
SMART Domains Protein: ENSMUSP00000120737
Gene: ENSMUSG00000061171
AA Change: C229Y

DomainStartEndE-ValueType
Pfam:Aa_trans 1 345 1.2e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152324
AA Change: C305Y

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121205
Gene: ENSMUSG00000061171
AA Change: C305Y

DomainStartEndE-ValueType
Pfam:Aa_trans 32 367 4.8e-58 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A C 2: 152,282,744 (GRCm39) N200H probably damaging Het
Abca17 T A 17: 24,547,720 (GRCm39) D218V probably damaging Het
Ap1b1 T C 11: 4,973,135 (GRCm39) V326A possibly damaging Het
Bdp1 A T 13: 100,186,322 (GRCm39) V1710E probably damaging Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cnnm3 T A 1: 36,560,303 (GRCm39) S608T probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Cobll1 A T 2: 64,937,394 (GRCm39) M406K probably benign Het
Cyp2d34 T C 15: 82,501,767 (GRCm39) K248E probably benign Het
Dcdc2a A C 13: 25,286,340 (GRCm39) I125L probably benign Het
Dgat1 G A 15: 76,386,721 (GRCm39) L439F probably benign Het
Disc1 T A 8: 125,862,043 (GRCm39) S472T probably damaging Het
Dnajb3 C A 1: 88,132,773 (GRCm39) V210F probably benign Het
Fancd2 A G 6: 113,570,230 (GRCm39) S1394G possibly damaging Het
Fasn A T 11: 120,698,765 (GRCm39) L2475Q probably damaging Het
Fn1 A T 1: 71,632,242 (GRCm39) C2335S probably damaging Het
Gpld1 T C 13: 25,127,603 (GRCm39) S2P unknown Het
Gpld1 G T 13: 25,140,146 (GRCm39) probably null Het
Gsc2 G A 16: 17,732,364 (GRCm39) R137W probably damaging Het
Gsdme T C 6: 50,228,343 (GRCm39) R42G probably damaging Het
Gtf3c5 T C 2: 28,469,548 (GRCm39) T119A probably damaging Het
Hs6st3 T C 14: 120,106,389 (GRCm39) S266P probably damaging Het
Htr2a T C 14: 74,943,262 (GRCm39) F281L probably benign Het
Hus1b T C 13: 31,131,236 (GRCm39) K141R probably benign Het
Ireb2 T C 9: 54,793,230 (GRCm39) probably null Het
Klhdc7a T A 4: 139,693,024 (GRCm39) Y641F probably benign Het
Kri1 T C 9: 21,193,190 (GRCm39) E57G possibly damaging Het
Map4 A G 9: 109,828,860 (GRCm39) T82A probably benign Het
Mthfr T G 4: 148,136,061 (GRCm39) M353R probably benign Het
Mtus2 A G 5: 148,240,083 (GRCm39) probably benign Het
Muc5ac T A 7: 141,346,473 (GRCm39) probably null Het
Myo15a T A 11: 60,370,186 (GRCm39) probably null Het
Nynrin A T 14: 56,101,044 (GRCm39) Q278L possibly damaging Het
Pced1b T G 15: 97,282,423 (GRCm39) probably null Het
Penk T C 4: 4,134,152 (GRCm39) D165G probably damaging Het
Pfkm T A 15: 98,016,090 (GRCm39) V90D probably damaging Het
Pgk2 T A 17: 40,519,134 (GRCm39) D98V probably damaging Het
Psg28 C A 7: 18,160,348 (GRCm39) A283S possibly damaging Het
Rgl3 A G 9: 21,892,070 (GRCm39) L338P probably damaging Het
Rnf126 A T 10: 79,597,465 (GRCm39) I149N probably damaging Het
Ros1 T C 10: 51,927,077 (GRCm39) H2181R probably benign Het
Speg T A 1: 75,378,186 (GRCm39) V798E probably damaging Het
Spesp1 G A 9: 62,189,376 (GRCm39) probably benign Het
Styk1 A T 6: 131,286,975 (GRCm39) Y84* probably null Het
Syt2 T C 1: 134,669,599 (GRCm39) L80P possibly damaging Het
Tra2a C T 6: 49,222,446 (GRCm39) probably benign Het
Trim10 T A 17: 37,182,580 (GRCm39) C149S probably damaging Het
Vmn2r38 T C 7: 9,097,689 (GRCm39) T135A probably benign Het
Wipf1 A G 2: 73,267,834 (GRCm39) V188A possibly damaging Het
Yipf2 G A 9: 21,501,197 (GRCm39) A67V probably benign Het
Zfp759 A G 13: 67,286,719 (GRCm39) E96G probably benign Het
Zic3 G A X: 57,076,838 (GRCm39) V100M 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
R0815:Slc38a11 UTSW 2 65,184,124 (GRCm39) missense possibly damaging 0.79
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
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'- CTGATACTTAATAGCCTAAAGAGAAGG -3'
(R):5'- TAAACCTGGGGCTACTAAAGTATG -3'

Sequencing Primer
(F):5'- GAGAAGGCTGTATGAATCTATCCCC -3'
(R):5'- CCTGGGGCTACTAAAGTATGTTATAC -3'
Posted On 2015-02-05