Mutagenetix > Incidental Mutation

Incidental Mutation 'R7224:Slc30a5'

562055

Institutional Source

Beutler Lab

Gene Symbol

Slc30a5

Ensembl Gene

ENSMUSG00000021629

Gene Name

solute carrier family 30 (zinc transporter), member 5

Synonyms

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

MMRRC Submission

045296-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

R7224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100939156-100969935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100945762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 530 (V530A)

Ref Sequence

ENSEMBL: ENSMUSP00000065764 (fasta)

Gene Model

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

AlphaFold

Q8R4H9

Predicted Effect

probably damaging
Transcript: ENSMUST00000067246
AA Change: V530A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065764
Gene: ENSMUSG00000021629
AA Change: V530A

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

probably damaging
Transcript: ENSMUST00000225922
AA Change: V473A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.5585

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 59,943,275 (GRCm39)	T60M	probably benign	Het
Actn4	C	T	7: 28,661,509 (GRCm39)	A34T	probably benign	Het
Acvrl1	A	G	15: 101,041,245 (GRCm39)	M466V	probably benign	Het
Adamts7	T	C	9: 90,067,868 (GRCm39)	Y453H	probably damaging	Het
Amfr	G	A	8: 94,711,484 (GRCm39)	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,516,688 (GRCm39)	T492M	probably benign	Het
Anxa6	A	G	11: 54,876,993 (GRCm39)	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,318,384 (GRCm39)	Y394D	unknown	Het
Atic	G	A	1: 71,610,014 (GRCm39)	V342I	probably benign	Het
Atl1	C	A	12: 70,002,127 (GRCm39)	T362N	probably benign	Het
Atp10a	A	T	7: 58,447,219 (GRCm39)	M654L	probably benign	Het
B3gnt5	A	T	16: 19,588,503 (GRCm39)	M241L	probably benign	Het
Bbs7	A	G	3: 36,659,877 (GRCm39)	V186A	possibly damaging	Het
Brme1	A	G	8: 84,898,842 (GRCm39)	T577A	probably benign	Het
C8b	T	C	4: 104,637,795 (GRCm39)	L89P	probably damaging	Het
Capn7	G	T	14: 31,092,678 (GRCm39)	E742*	probably null	Het
Ccdc162	G	A	10: 41,437,187 (GRCm39)	R1741C	probably damaging	Het
Cdhr17	T	C	5: 17,041,592 (GRCm39)	V615A	possibly damaging	Het
Chsy3	T	A	18: 59,542,047 (GRCm39)	L395H	probably damaging	Het
Cnot9	A	G	1: 74,556,388 (GRCm39)	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Cyp2d12	T	A	15: 82,441,849 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,436,420 (GRCm39)	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,584,196 (GRCm39)	G533D	possibly damaging	Het
Eddm13	T	G	7: 6,271,801 (GRCm39)	M77R	probably benign	Het
Elfn1	A	G	5: 139,958,228 (GRCm39)	S411G	probably benign	Het
Enpp3	T	C	10: 24,652,782 (GRCm39)	D725G	possibly damaging	Het
Fmnl1	T	C	11: 103,073,595 (GRCm39)		probably null	Het
Fndc8	T	C	11: 82,783,151 (GRCm39)	M44T	probably benign	Het
Gcgr	A	T	11: 120,425,538 (GRCm39)		probably benign	Het
Ggt1	T	A	10: 75,410,110 (GRCm39)	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,331,447 (GRCm39)	I198M	unknown	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm6034	T	A	17: 36,367,331 (GRCm39)	S59T	unknown	Het
Gm6408	G	A	5: 146,421,180 (GRCm39)	V270I	probably benign	Het
Gpr20	A	T	15: 73,567,981 (GRCm39)	I136N	probably damaging	Het
Ide	T	C	19: 37,268,160 (GRCm39)	E565G		Het
Igsf9	T	C	1: 172,322,349 (GRCm39)	S515P	probably damaging	Het
Kbtbd12	G	A	6: 88,590,965 (GRCm39)	R416*	probably null	Het
Kcnd3	A	T	3: 105,576,400 (GRCm39)	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,756,805 (GRCm39)	M265L	probably benign	Het
Klhdc1	G	A	12: 69,309,923 (GRCm39)	S275N	probably damaging	Het
Ldc1	C	G	4: 130,112,992 (GRCm39)	A135P	probably damaging	Het
Lrba	A	C	3: 86,302,553 (GRCm39)	N1871T	probably damaging	Het
Lrrk1	A	G	7: 65,982,134 (GRCm39)	V169A	probably damaging	Het
Magi1	A	G	6: 93,660,070 (GRCm39)	I1175T	probably benign	Het
Man1a2	T	C	3: 100,489,369 (GRCm39)	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,459,209 (GRCm39)	N129S	probably damaging	Het
Mup5	G	A	4: 61,750,622 (GRCm39)	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,488,877 (GRCm39)	R216C	probably damaging	Het
Neb	T	C	2: 52,224,671 (GRCm39)		probably null	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or52m2	A	T	7: 102,263,974 (GRCm39)	M74K	probably damaging	Het
Or5a1	T	C	19: 12,097,912 (GRCm39)	T55A	probably benign	Het
Or8b12b	G	A	9: 37,684,711 (GRCm39)	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,110,872 (GRCm39)	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,706,511 (GRCm39)	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,895,241 (GRCm39)	L623P		Het
Plxdc1	T	C	11: 97,823,153 (GRCm39)	T363A	possibly damaging	Het
Pole3	T	C	4: 62,442,287 (GRCm39)	D111G	unknown	Het
R3hdm2	T	A	10: 127,294,022 (GRCm39)	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,599,322 (GRCm39)	V90A		Het
Rcbtb1	C	G	14: 59,465,828 (GRCm39)	I390M	probably damaging	Het
Romo1	G	A	2: 155,986,295 (GRCm39)		probably benign	Het
Sars1	A	G	3: 108,335,519 (GRCm39)	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,224,724 (GRCm39)	T327A	probably benign	Het
Slc30a9	G	A	5: 67,473,044 (GRCm39)	E43K	probably benign	Het
Slc38a2	A	C	15: 96,589,240 (GRCm39)	L418W	probably damaging	Het
Snx14	T	C	9: 88,276,614 (GRCm39)	E557G	possibly damaging	Het
Spata33	T	A	8: 123,948,737 (GRCm39)	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,714,839 (GRCm39)	H170L	probably damaging	Het
Trpm1	A	G	7: 63,868,854 (GRCm39)		probably null	Het
Tsr3	A	T	17: 25,461,569 (GRCm39)	E302D	probably benign	Het
Ttll11	A	G	2: 35,792,685 (GRCm39)	I386T	probably damaging	Het
Usp2	C	T	9: 43,987,266 (GRCm39)	T188M	possibly damaging	Het
Usp44	A	G	10: 93,681,855 (GRCm39)	I102V	probably benign	Het
Wasf1	A	G	10: 40,802,546 (GRCm39)	N67S	probably benign	Het
Zfp445	T	C	9: 122,681,208 (GRCm39)	N911S	probably benign	Het
Zfp467	A	G	6: 48,421,903 (GRCm39)		probably null	Het

Other mutations in Slc30a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Slc30a5	APN	13	100,943,174 (GRCm39)	missense	probably damaging	1.00
IGL01647:Slc30a5	APN	13	100,957,653 (GRCm39)	missense	possibly damaging	0.66
IGL02338:Slc30a5	APN	13	100,939,941 (GRCm39)	missense	probably damaging	0.99
IGL02408:Slc30a5	APN	13	100,950,232 (GRCm39)	missense	probably damaging	1.00
IGL02582:Slc30a5	APN	13	100,949,155 (GRCm39)	critical splice donor site	probably null
IGL02987:Slc30a5	APN	13	100,940,423 (GRCm39)	missense	probably damaging	1.00
IGL03025:Slc30a5	APN	13	100,950,395 (GRCm39)	missense	probably damaging	0.99
IGL03064:Slc30a5	APN	13	100,947,818 (GRCm39)	missense	probably damaging	1.00
IGL03089:Slc30a5	APN	13	100,950,338 (GRCm39)	missense	probably benign	0.01
IGL03268:Slc30a5	APN	13	100,943,211 (GRCm39)	missense	probably damaging	1.00
R0083:Slc30a5	UTSW	13	100,939,908 (GRCm39)	missense	probably damaging	1.00
R0108:Slc30a5	UTSW	13	100,939,908 (GRCm39)	missense	probably damaging	1.00
R0108:Slc30a5	UTSW	13	100,939,908 (GRCm39)	missense	probably damaging	1.00
R0153:Slc30a5	UTSW	13	100,963,002 (GRCm39)	missense	possibly damaging	0.46
R0542:Slc30a5	UTSW	13	100,945,793 (GRCm39)	splice site	probably null
R0601:Slc30a5	UTSW	13	100,951,278 (GRCm39)	intron	probably benign
R1125:Slc30a5	UTSW	13	100,939,921 (GRCm39)	missense	probably damaging	1.00
R1434:Slc30a5	UTSW	13	100,939,950 (GRCm39)	missense	probably damaging	0.98
R1673:Slc30a5	UTSW	13	100,949,891 (GRCm39)	missense	probably benign	0.13
R1762:Slc30a5	UTSW	13	100,949,970 (GRCm39)	missense	probably damaging	1.00
R1974:Slc30a5	UTSW	13	100,950,461 (GRCm39)	missense	probably benign	0.06
R2082:Slc30a5	UTSW	13	100,943,041 (GRCm39)	critical splice donor site	probably null
R2151:Slc30a5	UTSW	13	100,940,457 (GRCm39)	missense	probably damaging	1.00
R2152:Slc30a5	UTSW	13	100,940,457 (GRCm39)	missense	probably damaging	1.00
R2153:Slc30a5	UTSW	13	100,940,457 (GRCm39)	missense	probably damaging	1.00
R3899:Slc30a5	UTSW	13	100,954,655 (GRCm39)	missense	probably benign	0.18
R4009:Slc30a5	UTSW	13	100,945,741 (GRCm39)	missense	probably damaging	1.00
R4010:Slc30a5	UTSW	13	100,945,741 (GRCm39)	missense	probably damaging	1.00
R4270:Slc30a5	UTSW	13	100,965,521 (GRCm39)	missense	probably benign	0.04
R4815:Slc30a5	UTSW	13	100,950,218 (GRCm39)	missense	probably damaging	1.00
R5048:Slc30a5	UTSW	13	100,943,249 (GRCm39)	missense	probably damaging	1.00
R5450:Slc30a5	UTSW	13	100,957,680 (GRCm39)	missense	possibly damaging	0.81
R5638:Slc30a5	UTSW	13	100,950,380 (GRCm39)	nonsense	probably null
R5892:Slc30a5	UTSW	13	100,949,810 (GRCm39)	missense	probably damaging	1.00
R5911:Slc30a5	UTSW	13	100,945,600 (GRCm39)	missense	probably damaging	1.00
R6453:Slc30a5	UTSW	13	100,951,197 (GRCm39)	missense	probably benign	0.00
R6769:Slc30a5	UTSW	13	100,950,368 (GRCm39)	missense	probably benign	0.19
R6795:Slc30a5	UTSW	13	100,953,577 (GRCm39)	missense	probably damaging	1.00
R7020:Slc30a5	UTSW	13	100,961,421 (GRCm39)	splice site	probably null
R7305:Slc30a5	UTSW	13	100,947,932 (GRCm39)	missense	probably damaging	0.98
R7318:Slc30a5	UTSW	13	100,950,477 (GRCm39)	missense	probably benign	0.13
R7411:Slc30a5	UTSW	13	100,954,688 (GRCm39)	missense	probably benign	0.15
R7563:Slc30a5	UTSW	13	100,940,480 (GRCm39)	missense	probably benign	0.30
R8039:Slc30a5	UTSW	13	100,950,189 (GRCm39)	critical splice donor site	probably null
R8061:Slc30a5	UTSW	13	100,965,419 (GRCm39)	missense	probably damaging	0.99
R8973:Slc30a5	UTSW	13	100,943,202 (GRCm39)	missense	probably damaging	0.99
R9150:Slc30a5	UTSW	13	100,939,915 (GRCm39)	nonsense	probably null
R9352:Slc30a5	UTSW	13	100,940,380 (GRCm39)	missense	probably benign	0.10
R9359:Slc30a5	UTSW	13	100,949,970 (GRCm39)	missense	probably damaging	1.00
R9405:Slc30a5	UTSW	13	100,950,416 (GRCm39)	missense	probably benign	0.00
R9407:Slc30a5	UTSW	13	100,951,214 (GRCm39)	nonsense	probably null
R9628:Slc30a5	UTSW	13	100,961,422 (GRCm39)	critical splice donor site	probably null
X0019:Slc30a5	UTSW	13	100,950,350 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACTCACCCCTCATGTTC -3'
(R):5'- GTACAGTTGGACCAAGGATGTG -3'

Sequencing Primer
(F):5'- ACCCCTCATGTTCGCATTCATG -3'
(R):5'- CTAGGTAGCCCTGGAATTCACAG -3'

Posted On

2019-06-26