Mutagenetix > Incidental Mutation

Incidental Mutation 'R1974:Slc30a5'

221475

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

039987-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

R1974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100939156-100969935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100950461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 209 (F209I)

Ref Sequence

ENSEMBL: ENSMUSP00000153587 (fasta)

Gene Model

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

AlphaFold

Q8R4H9

Predicted Effect

probably benign
Transcript: ENSMUST00000067246
AA Change: F266I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000065764
Gene: ENSMUSG00000021629
AA Change: F266I

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

unknown
Transcript: ENSMUST00000225086
AA Change: F22I

Predicted Effect

probably benign
Transcript: ENSMUST00000225922
AA Change: F209I

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,028 (GRCm39)	L739Q	probably damaging	Het
4933436I01Rik	A	T	X: 66,963,655 (GRCm39)	Y401*	probably null	Het
Abcg3	A	G	5: 105,111,504 (GRCm39)	V321A	probably benign	Het
Acad10	C	A	5: 121,764,248 (GRCm39)	V894L	possibly damaging	Het
Adam9	A	G	8: 25,482,240 (GRCm39)	I255T	probably damaging	Het
Ago3	T	C	4: 126,240,544 (GRCm39)	Y785C	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Akap4	A	G	X: 6,943,595 (GRCm39)	S633G	probably benign	Het
Alox15	T	A	11: 70,240,799 (GRCm39)	T194S	probably benign	Het
Amh	T	C	10: 80,642,250 (GRCm39)	S207P	probably benign	Het
Apc	T	A	18: 34,433,057 (GRCm39)	C415S	possibly damaging	Het
Atg14	G	A	14: 47,783,298 (GRCm39)	R346C	probably damaging	Het
Atp5mf	A	T	5: 145,121,389 (GRCm39)	L64Q	probably damaging	Het
Barhl2	C	G	5: 106,605,179 (GRCm39)	E177Q	probably benign	Het
C1qtnf5	T	C	9: 44,020,072 (GRCm39)	V232A	probably damaging	Het
Calr	T	C	8: 85,570,786 (GRCm39)	I290V	probably benign	Het
Cdh19	G	C	1: 110,817,889 (GRCm39)	Q618E	possibly damaging	Het
Celsr2	G	T	3: 108,321,530 (GRCm39)	D427E	probably damaging	Het
Cep250	T	C	2: 155,831,424 (GRCm39)	S1294P	probably damaging	Het
Chrna7	T	A	7: 62,749,034 (GRCm39)	T483S	probably damaging	Het
Clmn	A	T	12: 104,758,121 (GRCm39)	W132R	probably damaging	Het
Cpsf2	G	A	12: 101,956,306 (GRCm39)	D370N	probably benign	Het
Crnn	T	C	3: 93,056,594 (GRCm39)	V460A	probably benign	Het
Daam1	T	A	12: 72,035,703 (GRCm39)	I957N	probably damaging	Het
Defb9	T	C	8: 22,371,905 (GRCm39)	K36R	probably benign	Het
Dock10	T	A	1: 80,488,143 (GRCm39)	I2007F	possibly damaging	Het
Dpm1	A	T	2: 168,059,667 (GRCm39)	V143D	probably damaging	Het
Dync1h1	T	C	12: 110,592,166 (GRCm39)	V1110A	possibly damaging	Het
Erlec1	T	G	11: 30,889,604 (GRCm39)	K373N	possibly damaging	Het
Fbxo40	C	T	16: 36,790,303 (GRCm39)	G269E	probably benign	Het
Fbxw7	T	A	3: 84,862,242 (GRCm39)	C70S	possibly damaging	Het
Fhip2a	T	C	19: 57,373,809 (GRCm39)	F690L	probably damaging	Het
Fnbp1	G	T	2: 30,943,059 (GRCm39)	R280S	probably null	Het
Gapvd1	G	A	2: 34,590,853 (GRCm39)	R940C	probably damaging	Het
Gfod2	T	C	8: 106,444,142 (GRCm39)	K134E	possibly damaging	Het
Gpi1	A	T	7: 33,920,228 (GRCm39)		probably null	Het
Grik2	A	T	10: 49,008,923 (GRCm39)	N721K	possibly damaging	Het
Gsn	G	T	2: 35,191,483 (GRCm39)	G455V	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hpse	A	G	5: 100,840,104 (GRCm39)	S338P	probably damaging	Het
Hyal2	T	C	9: 107,449,371 (GRCm39)	C376R	probably damaging	Het
Inf2	A	G	12: 112,574,771 (GRCm39)	T781A	unknown	Het
Iscu	A	G	5: 113,915,079 (GRCm39)		probably benign	Het
Kcna4	G	A	2: 107,126,565 (GRCm39)	G433D	possibly damaging	Het
Kir3dl2	T	A	X: 135,357,024 (GRCm39)	N146I	probably benign	Het
Klrg1	T	A	6: 122,259,721 (GRCm39)	Q17L	possibly damaging	Het
Krt82	T	G	15: 101,453,597 (GRCm39)	Q263P	probably benign	Het
Mfrp	T	C	9: 44,017,669 (GRCm39)	C554R	probably damaging	Het
Minar1	T	G	9: 89,483,256 (GRCm39)	T714P	probably damaging	Het
Mst1r	T	C	9: 107,791,962 (GRCm39)	Y833H	probably damaging	Het
Mst1r	T	A	9: 107,793,132 (GRCm39)		probably null	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nipal4	T	C	11: 46,042,210 (GRCm39)	N157S	probably damaging	Het
Notch2	G	A	3: 97,980,071 (GRCm39)	G195D	probably damaging	Het
Nrcam	A	T	12: 44,610,776 (GRCm39)	H492L	probably benign	Het
Or10aa1	A	T	1: 173,870,154 (GRCm39)	I213F	probably damaging	Het
Or4p21	A	T	2: 88,276,853 (GRCm39)	I143N	probably damaging	Het
Papln	G	A	12: 83,828,811 (GRCm39)	R817H	probably damaging	Het
Pcnx2	T	C	8: 126,614,110 (GRCm39)	E447G	probably benign	Het
Pdp2	T	C	8: 105,320,538 (GRCm39)	V129A	probably benign	Het
Plch2	A	G	4: 155,069,410 (GRCm39)	F1072S	possibly damaging	Het
Prag1	T	A	8: 36,570,081 (GRCm39)	D221E	probably damaging	Het
Prkg1	T	C	19: 31,563,095 (GRCm39)	D102G	probably damaging	Het
Psme4	T	A	11: 30,769,011 (GRCm39)	D662E	probably benign	Het
Ptprn	T	C	1: 75,231,464 (GRCm39)		probably null	Het
Ptprz1	A	G	6: 22,986,310 (GRCm39)	D370G	probably damaging	Het
Qser1	A	G	2: 104,590,886 (GRCm39)	S1637P	probably damaging	Het
Sema6a	T	A	18: 47,403,696 (GRCm39)	H642L	probably benign	Het
Slc4a3	G	T	1: 75,528,835 (GRCm39)	E508*	probably null	Het
Stpg2	C	T	3: 139,014,944 (GRCm39)	R370*	probably null	Het
Tas2r113	T	A	6: 132,870,796 (GRCm39)	F275I	probably benign	Het
Tmem132d	T	G	5: 128,346,263 (GRCm39)	K86N	probably damaging	Het
Tpgs2	A	T	18: 25,273,593 (GRCm39)	F189L	probably damaging	Het
Trmt6	A	G	2: 132,652,968 (GRCm39)	S104P	probably damaging	Het
Trpv3	T	C	11: 73,174,514 (GRCm39)	S294P	probably damaging	Het
Ugt2b36	A	G	5: 87,228,727 (GRCm39)		probably null	Het
Vmn1r170	A	T	7: 23,305,906 (GRCm39)	M103L	probably benign	Het
Vmn2r107	T	A	17: 20,575,879 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	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
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
R7224:Slc30a5	UTSW	13	100,945,762 (GRCm39)	missense	probably damaging	0.99
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'- GTGCTGCTCTGTTCATAGCC -3'
(R):5'- TTGTTGTTAATACCCTGGAGAACCC -3'

Sequencing Primer
(F):5'- TGCTCTGTTCATAGCCCGGAG -3'
(R):5'- CCCTGGGAAAATGTACCACTATTTTG -3'

Posted On

2014-08-25