Incidental Mutation 'IGL01823:Slc30a4'
ID154603
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? Possibly non essential (E-score: 0.300) question?
Stock #IGL01823
Quality Score
Status
Chromosome2
Chromosomal Location122681233-122702663 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122702092 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 110 (V110A)
Ref Sequence ENSEMBL: ENSMUSP00000005952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005952] [ENSMUST00000099457]
Predicted Effect probably damaging
Transcript: ENSMUST00000005952
AA Change: V110A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005952
Gene: ENSMUSG00000005802
AA Change: V110A

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: V110A

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097056
Gene: ENSMUSG00000005802
AA Change: V110A

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp6 A G 13: 38,498,822 T460A probably damaging Het
Cd209a T C 8: 3,748,851 probably benign Het
Dock2 A G 11: 34,262,391 L1250P probably damaging Het
Evc T C 5: 37,328,521 N104D probably damaging Het
Fam161a A T 11: 23,015,785 E26V probably damaging Het
Foxa3 T C 7: 19,014,518 T228A probably benign Het
Gm8206 A T 14: 6,017,078 D133E probably benign Het
Ighv1-15 T A 12: 114,657,592 T38S probably benign Het
Ikzf1 A G 11: 11,769,091 D266G possibly damaging Het
Man2a1 T C 17: 64,666,824 I365T probably damaging Het
Mcm4 T C 16: 15,626,131 D756G probably damaging Het
Mroh9 G A 1: 163,055,609 L434F probably benign Het
Olfr1342 A G 4: 118,689,721 C244R probably damaging Het
Olfr297 T C 7: 86,527,041 C95R probably damaging Het
Phldb2 T A 16: 45,825,144 Y313F probably damaging Het
Psd4 A G 2: 24,394,432 S103G probably benign Het
Ripk4 T C 16: 97,755,283 I87V possibly damaging Het
Scn9a A T 2: 66,484,042 F1766L probably damaging Het
Slc10a5 A T 3: 10,334,514 V362D possibly damaging Het
Slc12a3 A G 8: 94,357,096 D917G probably benign Het
Slc30a8 A G 15: 52,295,962 probably benign Het
Slc5a8 T A 10: 88,919,472 C480* probably null Het
Tmppe A G 9: 114,405,107 K158R probably benign Het
Tubb6 A G 18: 67,402,273 N414S probably damaging Het
Wnt8a A T 18: 34,544,793 T85S possibly damaging Het
Other mutations in Slc30a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Slc30a4 APN 2 122702388 missense possibly damaging 0.87
IGL01583:Slc30a4 APN 2 122685217 missense probably benign
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
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 On2014-02-04