Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03268:Slc30a5'

415143

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc30a5

Ensembl Gene

ENSMUSG00000021629

Gene Name

solute carrier family 30 (zinc transporter), member 5

Synonyms

Zntl1, Znt5, 1810010K08Rik, ZTL1, ZnT-5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.762) question?

Stock #

IGL03268

Quality Score

Status

Chromosome

Chromosomal Location

100802648-100833427 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100806703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 549 (T549I)

Ref Sequence

ENSEMBL: ENSMUSP00000153587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067246] [ENSMUST00000225922]

AlphaFold

Q8R4H9

Predicted Effect

probably damaging
Transcript: ENSMUST00000067246
AA Change: T606I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065764
Gene: ENSMUSG00000021629
AA Change: T606I

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
transmembrane domain	56	75	N/A	INTRINSIC
transmembrane domain	96	113	N/A	INTRINSIC
transmembrane domain	128	145	N/A	INTRINSIC
transmembrane domain	150	164	N/A	INTRINSIC
transmembrane domain	192	214	N/A	INTRINSIC
transmembrane domain	235	254	N/A	INTRINSIC
transmembrane domain	264	286	N/A	INTRINSIC
transmembrane domain	299	321	N/A	INTRINSIC
transmembrane domain	341	360	N/A	INTRINSIC
Pfam:Cation_efflux	417	645	1.9e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225129

Predicted Effect

probably damaging
Transcript: ENSMUST00000225922
AA Change: T549I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice are growth retarded and exhibit skeletal defects including reduced bone density. The majority of mutant male mice die suddenly when they reach reproductive age due to bradyarrhythmia, whereas female mice live a normal term. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	G	T	4: 155,734,191		probably benign	Het
Acvrl1	A	T	15: 101,135,922	I162F	possibly damaging	Het
Adprhl1	A	G	8: 13,246,170		probably benign	Het
Anapc7	G	A	5: 122,429,606		probably null	Het
Ankrd13a	T	C	5: 114,792,235	L227P	probably damaging	Het
Anxa5	T	C	3: 36,450,679	I245V	probably benign	Het
Arf1	A	T	11: 59,212,837	V123E	possibly damaging	Het
Catsperg1	G	A	7: 29,200,243	R338C	probably damaging	Het
Cc2d1a	A	C	8: 84,133,525	L855R	probably damaging	Het
Cdh18	G	A	15: 23,366,867	A220T	probably damaging	Het
Cep350	T	C	1: 155,953,549	H203R	probably benign	Het
Cep78	G	T	19: 15,974,442	S333*	probably null	Het
Chrna2	T	A	14: 66,150,946		probably benign	Het
Dact1	T	C	12: 71,317,483	V346A	probably damaging	Het
Dcn	A	G	10: 97,483,378	I6V	probably benign	Het
Dlg3	A	G	X: 100,809,887	Y600C	probably damaging	Het
Dmd	A	G	X: 83,806,208	E1084G	probably damaging	Het
Epb41	A	C	4: 131,928,495	D825E	probably damaging	Het
Galc	T	A	12: 98,222,593		probably benign	Het
Hmcn1	T	A	1: 150,772,510	D675V	probably damaging	Het
Igkv2-137	A	G	6: 67,556,108	D85G	probably benign	Het
Kxd1	A	G	8: 70,508,486	I78T	probably damaging	Het
Lama1	G	A	17: 67,804,536	G2261R	probably damaging	Het
Lama2	A	T	10: 27,422,653	I149N	probably damaging	Het
Mbnl2	G	T	14: 120,379,157	C61F	probably damaging	Het
Mcts1	T	C	X: 38,601,982	I22T	possibly damaging	Het
Olfr594	T	G	7: 103,220,641	F308V	probably benign	Het
Olfr725	T	C	14: 50,034,567	T279A	probably damaging	Het
Pde12	T	A	14: 26,668,459	E365V	probably benign	Het
Prl8a2	A	G	13: 27,353,955	K204R	probably benign	Het
Rnf25	A	T	1: 74,599,058		probably benign	Het
Rragb	A	G	X: 153,140,497	D5G	unknown	Het
Rsrc2	T	A	5: 123,740,727	K56*	probably null	Het
Scn5a	T	C	9: 119,521,231	Q859R	probably damaging	Het
Sept4	G	A	11: 87,589,703	V388M	probably damaging	Het
Slc29a2	C	T	19: 5,024,503		probably benign	Het
Slc7a2	A	G	8: 40,912,517	T462A	probably benign	Het
Spsb2	A	G	6: 124,809,487	E61G	probably damaging	Het
Srr	A	G	11: 74,913,117	Y5H	probably benign	Het
Suclg2	T	C	6: 95,569,592	D301G	probably damaging	Het
Syt14	A	G	1: 192,986,834	V37A	probably benign	Het
Syt9	A	G	7: 107,436,405	N210D	probably benign	Het
Tenm3	T	C	8: 48,235,523	D2343G	probably damaging	Het
Tma7	A	G	9: 109,078,382		probably benign	Het
Tor3a	T	C	1: 156,669,450	D175G	probably damaging	Het
Tpo	G	T	12: 30,094,965	A595D	possibly damaging	Het
Tpst2	T	C	5: 112,308,225	V210A	probably damaging	Het
Uchl1	A	T	5: 66,682,481	E122V	probably benign	Het
Vmn1r210	A	T	13: 22,827,235	F294I	probably benign	Het

Other mutations in Slc30a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Slc30a5	APN	13	100806666	missense	probably damaging	1.00
IGL01647:Slc30a5	APN	13	100821145	missense	possibly damaging	0.66
IGL02338:Slc30a5	APN	13	100803433	missense	probably damaging	0.99
IGL02408:Slc30a5	APN	13	100813724	missense	probably damaging	1.00
IGL02582:Slc30a5	APN	13	100812647	critical splice donor site	probably null
IGL02987:Slc30a5	APN	13	100803915	missense	probably damaging	1.00
IGL03025:Slc30a5	APN	13	100813887	missense	probably damaging	0.99
IGL03064:Slc30a5	APN	13	100811310	missense	probably damaging	1.00
IGL03089:Slc30a5	APN	13	100813830	missense	probably benign	0.01
R0083:Slc30a5	UTSW	13	100803400	missense	probably damaging	1.00
R0108:Slc30a5	UTSW	13	100803400	missense	probably damaging	1.00
R0108:Slc30a5	UTSW	13	100803400	missense	probably damaging	1.00
R0153:Slc30a5	UTSW	13	100826494	missense	possibly damaging	0.46
R0542:Slc30a5	UTSW	13	100809285	splice site	probably null
R0601:Slc30a5	UTSW	13	100814770	intron	probably benign
R1125:Slc30a5	UTSW	13	100803413	missense	probably damaging	1.00
R1434:Slc30a5	UTSW	13	100803442	missense	probably damaging	0.98
R1673:Slc30a5	UTSW	13	100813383	missense	probably benign	0.13
R1762:Slc30a5	UTSW	13	100813462	missense	probably damaging	1.00
R1974:Slc30a5	UTSW	13	100813953	missense	probably benign	0.06
R2082:Slc30a5	UTSW	13	100806533	critical splice donor site	probably null
R2151:Slc30a5	UTSW	13	100803949	missense	probably damaging	1.00
R2152:Slc30a5	UTSW	13	100803949	missense	probably damaging	1.00
R2153:Slc30a5	UTSW	13	100803949	missense	probably damaging	1.00
R3899:Slc30a5	UTSW	13	100818147	missense	probably benign	0.18
R4009:Slc30a5	UTSW	13	100809233	missense	probably damaging	1.00
R4010:Slc30a5	UTSW	13	100809233	missense	probably damaging	1.00
R4270:Slc30a5	UTSW	13	100829013	missense	probably benign	0.04
R4815:Slc30a5	UTSW	13	100813710	missense	probably damaging	1.00
R5048:Slc30a5	UTSW	13	100806741	missense	probably damaging	1.00
R5450:Slc30a5	UTSW	13	100821172	missense	possibly damaging	0.81
R5638:Slc30a5	UTSW	13	100813872	nonsense	probably null
R5892:Slc30a5	UTSW	13	100813302	missense	probably damaging	1.00
R5911:Slc30a5	UTSW	13	100809092	missense	probably damaging	1.00
R6453:Slc30a5	UTSW	13	100814689	missense	probably benign	0.00
R6769:Slc30a5	UTSW	13	100813860	missense	probably benign	0.19
R6795:Slc30a5	UTSW	13	100817069	missense	probably damaging	1.00
R7020:Slc30a5	UTSW	13	100824913	splice site	probably null
R7224:Slc30a5	UTSW	13	100809254	missense	probably damaging	0.99
R7305:Slc30a5	UTSW	13	100811424	missense	probably damaging	0.98
R7318:Slc30a5	UTSW	13	100813969	missense	probably benign	0.13
R7411:Slc30a5	UTSW	13	100818180	missense	probably benign	0.15
R7563:Slc30a5	UTSW	13	100803972	missense	probably benign	0.30
R8039:Slc30a5	UTSW	13	100813681	critical splice donor site	probably null
R8061:Slc30a5	UTSW	13	100828911	missense	probably damaging	0.99
R8973:Slc30a5	UTSW	13	100806694	missense	probably damaging	0.99
R9150:Slc30a5	UTSW	13	100803407	nonsense	probably null
R9352:Slc30a5	UTSW	13	100803872	missense	probably benign	0.10
R9359:Slc30a5	UTSW	13	100813462	missense	probably damaging	1.00
R9405:Slc30a5	UTSW	13	100813908	missense	probably benign	0.00
R9407:Slc30a5	UTSW	13	100814706	nonsense	probably null
R9628:Slc30a5	UTSW	13	100824914	critical splice donor site	probably null
X0019:Slc30a5	UTSW	13	100813842	missense	probably damaging	1.00

Posted On

2016-08-02