Incidental Mutation 'IGL01524:Slc30a4'
ID89495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc30a4
Ensembl Gene ENSMUSG00000005802
Gene Namesolute carrier family 30 (zinc transporter), member 4
SynonymsZnt4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01524
Quality Score
Status
Chromosome2
Chromosomal Location122681233-122702663 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122702388 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 11 (K11N)
Ref Sequence ENSEMBL: ENSMUSP00000005952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005952] [ENSMUST00000099457]
Predicted Effect possibly damaging
Transcript: ENSMUST00000005952
AA Change: K11N

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000005952
Gene: ENSMUSG00000005802
AA Change: K11N

DomainStartEndE-ValueType
low complexity region 67 83 N/A INTRINSIC
Pfam:Cation_efflux 114 333 1.3e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099457
AA Change: K11N

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097056
Gene: ENSMUSG00000005802
AA Change: K11N

DomainStartEndE-ValueType
low complexity region 67 83 N/A INTRINSIC
Pfam:Cation_efflux 124 368 4.6e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155018
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant dams produce zinc-deficient milk that is lethal to all nursing pups. Pleiotropic defects observed in mutant males and females include otolith degeneration, impaired motor coordination, alopecia, and dermatitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,942,382 D1081G possibly damaging Het
Aadat A T 8: 60,516,072 D117V probably damaging Het
Abca14 T C 7: 120,253,421 Y870H possibly damaging Het
Ankrd36 T C 11: 5,635,092 I301T probably benign Het
Atp10b T A 11: 43,259,845 S1457T probably benign Het
Ccdc175 G A 12: 72,131,142 probably benign Het
Ccdc93 A G 1: 121,461,899 K224E probably benign Het
Cep131 C T 11: 120,065,960 A886T probably damaging Het
Clip1 A C 5: 123,579,379 H1282Q probably damaging Het
Ctcfl T G 2: 173,117,384 D183A probably benign Het
Cyp17a1 C T 19: 46,671,056 V112I probably benign Het
D3Ertd254e T C 3: 36,164,580 Y251H possibly damaging Het
Fhod3 T C 18: 25,130,602 I1521T probably damaging Het
Gipc2 A G 3: 152,137,577 I141T probably damaging Het
Glo1 T C 17: 30,596,419 R141G possibly damaging Het
Ipmk C A 10: 71,372,801 A140E probably damaging Het
Kynu A G 2: 43,671,382 D310G possibly damaging Het
Myo1f T A 17: 33,579,883 I174N probably damaging Het
Nat10 T A 2: 103,757,757 N8Y probably damaging Het
Nhlrc2 A G 19: 56,576,155 I304V probably benign Het
Pdk4 T C 6: 5,491,979 H31R probably damaging Het
Sema6d T C 2: 124,664,075 V644A possibly damaging Het
Slc6a3 T C 13: 73,538,549 S12P probably benign Het
Spats2 C T 15: 99,212,246 A508V probably benign Het
Tinag A G 9: 77,045,538 Y55H probably damaging Het
Topbp1 T C 9: 103,311,645 I172T possibly damaging Het
Trim17 A G 11: 58,970,597 T279A probably damaging Het
Vmn1r216 C A 13: 23,099,349 N67K probably benign Het
Washc4 T C 10: 83,576,132 L709P probably benign Het
Xdh T C 17: 73,923,137 probably null Het
Zfhx4 C T 3: 5,243,976 P754L probably damaging Het
Zfp623 C A 15: 75,947,679 S161R probably benign Het
Zmat3 G A 3: 32,341,678 R227C possibly damaging Het
Other mutations in Slc30a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Slc30a4 APN 2 122685217 missense probably benign
IGL01823:Slc30a4 APN 2 122702092 missense probably damaging 1.00
IGL02086:Slc30a4 APN 2 122702027 splice site probably benign
F5770:Slc30a4 UTSW 2 122689538 missense probably benign 0.00
R0060:Slc30a4 UTSW 2 122685184 missense probably benign
R0060:Slc30a4 UTSW 2 122685184 missense probably benign
R0373:Slc30a4 UTSW 2 122689399 missense probably damaging 0.99
R0591:Slc30a4 UTSW 2 122685240 missense probably damaging 1.00
R1514:Slc30a4 UTSW 2 122689414 missense probably damaging 1.00
R1552:Slc30a4 UTSW 2 122686016 missense probably benign 0.05
R3847:Slc30a4 UTSW 2 122702272 missense probably damaging 1.00
R4195:Slc30a4 UTSW 2 122685270 missense probably damaging 1.00
R4501:Slc30a4 UTSW 2 122685216 missense probably benign
R5558:Slc30a4 UTSW 2 122686983 missense probably damaging 1.00
R6379:Slc30a4 UTSW 2 122689549 missense probably damaging 1.00
R6393:Slc30a4 UTSW 2 122686046 missense probably damaging 1.00
R7394:Slc30a4 UTSW 2 122685304 missense possibly damaging 0.93
V7580:Slc30a4 UTSW 2 122689538 missense probably benign 0.00
V7581:Slc30a4 UTSW 2 122689538 missense probably benign 0.00
V7582:Slc30a4 UTSW 2 122689538 missense probably benign 0.00
V7583:Slc30a4 UTSW 2 122689538 missense probably benign 0.00
Posted On2013-12-03