Incidental Mutation 'R1576:Slc39a11'
ID171177
Institutional Source Beutler Lab
Gene Symbol Slc39a11
Ensembl Gene ENSMUSG00000041654
Gene Namesolute carrier family 39 (metal ion transporter), member 11
Synonyms
MMRRC Submission 039614-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #R1576 (G1)
Quality Score220
Status Validated
Chromosome11
Chromosomal Location113244853-113650079 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 113559535 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 41 (D41E)
Ref Sequence ENSEMBL: ENSMUSP00000120929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042657] [ENSMUST00000071539] [ENSMUST00000106633] [ENSMUST00000125890] [ENSMUST00000136392] [ENSMUST00000146031] [ENSMUST00000149034]
Predicted Effect probably damaging
Transcript: ENSMUST00000042657
AA Change: D41E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037331
Gene: ENSMUSG00000041654
AA Change: D41E

DomainStartEndE-ValueType
Pfam:Zip 8 366 1.8e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071539
AA Change: D41E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071469
Gene: ENSMUSG00000041654
AA Change: D41E

DomainStartEndE-ValueType
Pfam:Zip 8 331 2.2e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106633
AA Change: D41E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102244
Gene: ENSMUSG00000041654
AA Change: D41E

DomainStartEndE-ValueType
Pfam:Zip 7 338 3.6e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125890
AA Change: D41E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115472
Gene: ENSMUSG00000041654
AA Change: D41E

DomainStartEndE-ValueType
Pfam:Zip 7 200 3.6e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136392
AA Change: D41E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000146031
AA Change: D41E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121286
Gene: ENSMUSG00000041654
AA Change: D41E

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000149034
AA Change: D41E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120929
Gene: ENSMUSG00000041654
AA Change: D41E

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 76 95 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.1%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 G A 8: 22,808,467 probably benign Het
Apol11a T A 15: 77,516,931 I206N probably damaging Het
Arfgap3 A G 15: 83,313,563 S331P possibly damaging Het
Arhgef16 A C 4: 154,291,312 L75R probably damaging Het
Cfi T C 3: 129,873,050 V474A probably damaging Het
Dhx8 T C 11: 101,752,319 V739A probably damaging Het
Dpy19l2 T A 9: 24,584,502 H640L probably benign Het
Eif4g3 T A 4: 138,096,870 M57K probably damaging Het
Emilin2 A G 17: 71,255,117 probably null Het
Epc1 T C 18: 6,452,366 E281G possibly damaging Het
Fancd2 G T 6: 113,578,405 S1125I probably damaging Het
Fh1 G A 1: 175,607,819 P366L probably null Het
Gata3 A T 2: 9,863,196 S316T probably damaging Het
Hmcn1 A T 1: 150,657,241 S3064T possibly damaging Het
Inpp5d A T 1: 87,669,685 T193S probably benign Het
Inpp5d A T 1: 87,681,558 I277F probably damaging Het
Itga5 T C 15: 103,351,617 D616G probably damaging Het
Jade1 T A 3: 41,591,807 V89E probably damaging Het
Lamb2 T C 9: 108,480,307 S81P probably damaging Het
Lrrc19 G A 4: 94,639,353 P207L probably damaging Het
Maea A G 5: 33,362,696 D147G probably damaging Het
Muc6 T A 7: 141,634,524 E2767V possibly damaging Het
Myom2 A G 8: 15,084,556 Y453C probably damaging Het
Naip2 A T 13: 100,155,021 D1136E probably benign Het
Naip2 G A 13: 100,155,029 probably benign Het
Nap1l1 A G 10: 111,494,820 D362G probably damaging Het
Nap1l4 C T 7: 143,538,216 probably null Het
Nudt21 A C 8: 94,028,833 probably null Het
Nufip1 A G 14: 76,134,870 N475D probably benign Het
Pcdhb8 A G 18: 37,356,703 D478G probably damaging Het
Pla2g4d A G 2: 120,284,167 S28P probably damaging Het
Polr2j C A 5: 136,120,028 N29K probably damaging Het
Ppp2r2a A G 14: 67,038,869 probably benign Het
Ptprk A G 10: 28,551,651 D742G probably damaging Het
Pum2 A G 12: 8,713,524 D227G probably benign Het
Rfxank C A 8: 70,134,303 R221L possibly damaging Het
Shank3 C A 15: 89,503,663 Q317K probably benign Het
Slc22a17 A G 14: 54,907,990 V460A probably damaging Het
Spag17 T C 3: 99,939,363 S68P possibly damaging Het
Sstr5 C T 17: 25,491,298 C319Y possibly damaging Het
Stk17b G T 1: 53,757,590 D339E probably damaging Het
Tagln2 A G 1: 172,505,221 D25G probably benign Het
Ttn C T 2: 76,794,850 V13417I probably benign Het
Vps50 A G 6: 3,545,568 E334G possibly damaging Het
Zfp316 T C 5: 143,264,094 E138G unknown Het
Zfp879 T A 11: 50,833,549 T227S probably benign Het
Other mutations in Slc39a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0011:Slc39a11 UTSW 11 113247833 missense probably benign 0.00
R0614:Slc39a11 UTSW 11 113523626 critical splice acceptor site probably null
R0621:Slc39a11 UTSW 11 113464079 missense probably benign 0.25
R0798:Slc39a11 UTSW 11 113523504 missense probably benign 0.04
R0959:Slc39a11 UTSW 11 113464073 missense probably benign 0.31
R1386:Slc39a11 UTSW 11 113247724 missense probably benign 0.31
R1533:Slc39a11 UTSW 11 113305922 missense probably damaging 1.00
R2074:Slc39a11 UTSW 11 113463974 missense probably null 0.98
R2127:Slc39a11 UTSW 11 113369803 missense probably benign
R2218:Slc39a11 UTSW 11 113559550 critical splice acceptor site probably null
R6259:Slc39a11 UTSW 11 113463954 missense probably benign 0.10
R7420:Slc39a11 UTSW 11 113247822 missense probably damaging 0.99
R7440:Slc39a11 UTSW 11 113562092 missense probably damaging 0.96
R7447:Slc39a11 UTSW 11 113562023 missense probably benign
R7805:Slc39a11 UTSW 11 113591955 splice site probably null
Z1177:Slc39a11 UTSW 11 113250546 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACCTCGTAAGCTGGGGAGTGAAG -3'
(R):5'- ACTTGCTGTCAGTCCCACTACACG -3'

Sequencing Primer
(F):5'- CTGGGGAGTGAAGACAGTC -3'
(R):5'- CAACTTCTGGTTGACACTGGAATG -3'
Posted On2014-04-13