Mutagenetix > Incidental Mutations

Incidental Mutation 'R2153:Slc30a5'

234548

Institutional Source

Beutler Lab

Gene Symbol

Slc30a5

Ensembl Gene

ENSMUSG00000021629

Gene Name

solute carrier family 30 (zinc transporter), member 5

Synonyms

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

MMRRC Submission

040156-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.475) question?

Stock #

R2153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100802648-100833427 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100803949 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 619 (H619Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153587 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067246
AA Change: H676Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065764
Gene: ENSMUSG00000021629
AA Change: H676Q

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: H619Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.4859

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,455,115	E363G	probably benign	Het
9930021J03Rik	T	C	19: 29,716,829	M1755V	probably benign	Het
Abcg2	T	A	6: 58,684,322		probably null	Het
Adgrg7	T	G	16: 56,752,428	I342L	possibly damaging	Het
Akap6	A	C	12: 53,141,404	D1867A	probably benign	Het
Ankrd17	A	T	5: 90,234,059	V2416D	probably damaging	Het
Apaf1	A	G	10: 91,048,090	V670A	probably damaging	Het
Art5	A	G	7: 102,098,200	L124P	possibly damaging	Het
Atad5	T	A	11: 80,106,377	D842E	probably benign	Het
Capns1	A	G	7: 30,192,340	L124P	probably damaging	Het
Carmil1	A	G	13: 24,141,673	S225P	probably damaging	Het
Cars2	C	T	8: 11,530,299	A247T	possibly damaging	Het
Cd46	A	G	1: 195,062,413	I339T	probably benign	Het
Ceacam14	C	A	7: 17,814,228	T81N	probably benign	Het
Ceacam16	G	A	7: 19,861,141	P4L	probably benign	Het
Chek1	C	A	9: 36,723,983	V35F	probably damaging	Het
Cntnap5c	A	T	17: 58,055,671	I340L	possibly damaging	Het
Col2a1	C	A	15: 97,987,580	A461S	unknown	Het
Comtd1	T	C	14: 21,848,272	E27G	possibly damaging	Het
Cyp2a12	A	G	7: 27,032,617	N261S	probably benign	Het
Dclk1	A	G	3: 55,247,212	Y21C	probably damaging	Het
Dis3l	T	A	9: 64,307,263	N981I	probably benign	Het
Dlg5	A	T	14: 24,137,157	I1819N	probably damaging	Het
Enpep	T	C	3: 129,280,582	N772S	probably damaging	Het
Erich1	T	C	8: 14,078,773	T56A	probably benign	Het
Ermp1	T	C	19: 29,637,398		probably null	Het
Etl4	A	G	2: 20,798,734	E807G	probably benign	Het
Fat4	A	T	3: 38,983,395	Y3732F	probably damaging	Het
Fbxw18	T	G	9: 109,693,370	T144P	probably damaging	Het
Flywch1	A	T	17: 23,755,650	I672K	probably benign	Het
Foxk2	C	A	11: 121,260,387	A86E	probably benign	Het
Garem2	T	C	5: 30,108,299	S54P	probably damaging	Het
Gda	A	G	19: 21,397,505		probably null	Het
Gna15	T	C	10: 81,502,904	Y367C	probably damaging	Het
Golga3	A	G	5: 110,187,990		probably null	Het
Greb1	T	C	12: 16,699,532	S1098G	probably damaging	Het
Hook3	C	A	8: 26,070,197	L333F	probably damaging	Het
Ikbkap	T	A	4: 56,779,636		probably null	Het
Il6	C	T	5: 30,013,504	Q33*	probably null	Het
Iqgap1	T	C	7: 80,751,953	E468G	probably benign	Het
Iqgap1	A	G	7: 80,759,903	I228T	possibly damaging	Het
Kat6b	A	T	14: 21,668,667	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,371,440	I371F	probably damaging	Het
Kcnj10	A	T	1: 172,369,888	Y323F	possibly damaging	Het
Klk1b5	T	C	7: 44,219,898		probably null	Het
Lmo7	A	G	14: 101,920,515		probably benign	Het
Loxhd1	A	T	18: 77,356,166	T277S	possibly damaging	Het
Lrp5	A	T	19: 3,614,339	M796K	probably benign	Het
Med15	A	T	16: 17,685,451		probably null	Het
Mfn1	T	A	3: 32,542,826	H144Q	probably damaging	Het
Mmp25	T	A	17: 23,631,074	Y504F	probably damaging	Het
Nmi	T	C	2: 51,952,543	E179G	probably damaging	Het
Nrxn2	T	C	19: 6,504,914	I1141T	probably damaging	Het
Olah	T	C	2: 3,365,269	S9G	probably benign	Het
Olfr1054	A	C	2: 86,332,528	F276C	probably damaging	Het
Olfr1204	C	A	2: 88,852,784	P278H	probably damaging	Het
Olfr1477	T	G	19: 13,502,488	I48M	probably damaging	Het
Olfr24	T	C	9: 18,755,095	D180G	probably damaging	Het
Olfr913	G	T	9: 38,594,411	L63F	probably damaging	Het
Otog	T	A	7: 46,302,904	C2591S	probably damaging	Het
Pdgfrb	G	T	18: 61,072,756	V605F	probably damaging	Het
Pik3cb	T	A	9: 99,101,244	K104*	probably null	Het
Plb1	T	A	5: 32,314,089	I580N	probably damaging	Het
Plekha2	T	C	8: 25,088,397	Y29C	probably damaging	Het
Plekha7	T	A	7: 116,175,767	Y213F	probably damaging	Het
Plin5	T	C	17: 56,116,836	D33G	probably benign	Het
Pnpla2	C	A	7: 141,459,219	Q371K	probably damaging	Het
Ppm1n	A	G	7: 19,278,185	Y348H	probably damaging	Het
Ppp2r1b	T	A	9: 50,866,554	D266E	probably damaging	Het
Prss23	A	G	7: 89,509,911	S317P	probably damaging	Het
Prss33	C	T	17: 23,834,843	V87M	probably damaging	Het
Ptpn12	C	A	5: 21,002,468	Q297H	probably damaging	Het
Pum1	G	T	4: 130,751,491	A571S	probably damaging	Het
Rexo1	G	T	10: 80,544,109	C13*	probably null	Het
Rhpn1	A	T	15: 75,704,394	M1L	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ripk2	A	G	4: 16,132,775		probably null	Het
Rps6kc1	T	C	1: 190,798,723	Y937C	probably damaging	Het
Rrbp1	A	G	2: 143,954,198	L1200P	possibly damaging	Het
Ryr2	A	G	13: 11,577,873	I4665T	possibly damaging	Het
Sbno1	C	A	5: 124,378,543	V1256F	probably benign	Het
Senp5	T	C	16: 31,968,874	I644V	probably damaging	Het
Serpinb9e	T	A	13: 33,252,978	F94I	probably damaging	Het
Sidt2	T	C	9: 45,945,340	D477G	probably damaging	Het
Slmap	A	G	14: 26,418,247	Y771H	probably damaging	Het
Sned1	T	A	1: 93,274,657	D674E	probably benign	Het
Sorl1	T	C	9: 41,984,492	H1789R	probably benign	Het
Sp2	T	C	11: 96,962,008	D30G	possibly damaging	Het
Stk33	T	A	7: 109,341,320	N61I	probably benign	Het
Stxbp1	T	A	2: 32,802,856	I383F	probably damaging	Het
Tbcd	A	G	11: 121,603,631	Q1006R	possibly damaging	Het
Tln2	T	C	9: 67,302,560	T432A	probably damaging	Het
Tnfrsf21	A	G	17: 43,087,872	D623G	probably damaging	Het
Trib2	A	G	12: 15,793,829	F271L	probably damaging	Het
Ttn	A	G	2: 76,980,133	V17A	probably benign	Het
Ubqlnl	A	T	7: 104,148,683	C536S	probably benign	Het
Vmn1r230	T	A	17: 20,846,801	M84K	probably damaging	Het
Vmn2r97	A	T	17: 18,947,322	R613*	probably null	Het
Yeats2	T	A	16: 20,154,166	D23E	probably damaging	Het
Zan	T	A	5: 137,436,400	I2214F	unknown	Het
Zbtb40	T	C	4: 136,991,635	D917G	probably damaging	Het
Zcchc2	C	A	1: 106,021,723		probably null	Het
Zdhhc23	G	T	16: 43,973,919	Q131K	probably benign	Het
Zfp345	T	C	2: 150,472,658	T320A	probably benign	Het
Zfp532	A	G	18: 65,624,927	T644A	possibly damaging	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
IGL03268:Slc30a5	APN	13	100806703	missense	probably damaging	1.00
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
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
X0019:Slc30a5	UTSW	13	100813842	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTGTAACCTGTTAAGACATTCAG -3'
(R):5'- GCTCATTAAATACGCTCAGGAAACAG -3'

Sequencing Primer
(F):5'- CCTGTCTACAAAGTGAGTTCCAGG -3'
(R):5'- TACGCTCAGGAAACAGAATAAATG -3'

Posted On

2014-10-01