Mutagenetix > Incidental Mutation

Incidental Mutation 'R9352:Slc30a5'

708169

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

R9352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100939156-100969935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100940380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 702 (I702T)

Ref Sequence

ENSEMBL: ENSMUSP00000065764 (fasta)

Gene Model

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

AlphaFold

Q8R4H9

Predicted Effect

probably benign
Transcript: ENSMUST00000067246
AA Change: I702T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000065764
Gene: ENSMUSG00000021629
AA Change: I702T

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

possibly damaging
Transcript: ENSMUST00000225922
AA Change: I645T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	T	7: 82,091,656 (GRCm39)	Q123L	probably damaging	Het
Adarb2	T	A	13: 8,807,428 (GRCm39)	L743Q	probably damaging	Het
Alpk2	C	A	18: 65,439,783 (GRCm39)	D537Y	probably benign	Het
Anxa4	C	T	6: 86,742,775 (GRCm39)		probably benign	Het
Arfgap3	T	A	15: 83,191,127 (GRCm39)	I464L	possibly damaging	Het
Asb2	C	T	12: 103,296,698 (GRCm39)	V320I	probably damaging	Het
Axl	T	C	7: 25,462,752 (GRCm39)	T659A	possibly damaging	Het
Bbof1	A	G	12: 84,461,394 (GRCm39)	H139R	probably benign	Het
Birc6	G	A	17: 74,965,347 (GRCm39)		probably null	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Chil3	A	T	3: 106,067,787 (GRCm39)	F126Y	probably damaging	Het
Chrnb4	T	A	9: 54,951,167 (GRCm39)	D32V	probably benign	Het
Chst15	C	A	7: 131,872,257 (GRCm39)	C8F	probably damaging	Het
Cntnap5c	A	G	17: 58,399,463 (GRCm39)	I439V	probably benign	Het
Crisp2	T	A	17: 41,078,200 (GRCm39)	N194I	probably damaging	Het
Csrnp1	G	A	9: 119,801,997 (GRCm39)	T354M	probably benign	Het
Cul1	T	A	6: 47,479,426 (GRCm39)	S231T	probably benign	Het
Cyp27a1	C	T	1: 74,752,920 (GRCm39)	T44M	possibly damaging	Het
Dgkg	T	C	16: 22,398,581 (GRCm39)	D232G	probably damaging	Het
Dnah1	G	T	14: 31,038,620 (GRCm39)	Q154K	probably benign	Het
Dnmt1	A	G	9: 20,840,384 (GRCm39)	V304A	probably benign	Het
Dok6	T	C	18: 89,492,133 (GRCm39)	N148S	probably benign	Het
Fnta	A	T	8: 26,501,119 (GRCm39)	W134R	probably damaging	Het
Garin5b	T	A	7: 4,761,605 (GRCm39)	Y369F		Het
Gm32742	T	G	9: 51,052,544 (GRCm39)	Q1441P	possibly damaging	Het
Gm3486	T	C	14: 41,208,318 (GRCm39)	Q131R	possibly damaging	Het
Gnptab	A	G	10: 88,268,350 (GRCm39)	N486D	probably benign	Het
H2-Q4	T	G	17: 35,601,909 (GRCm39)	F257C	probably damaging	Het
Hfe	A	G	13: 23,890,119 (GRCm39)	V218A	probably benign	Het
Htr2b	A	G	1: 86,027,294 (GRCm39)	V404A	probably benign	Het
Hyou1	T	A	9: 44,300,926 (GRCm39)		probably null	Het
Ikbkb	T	C	8: 23,150,444 (GRCm39)	D746G	probably benign	Het
Ikzf4	T	C	10: 128,472,623 (GRCm39)	N251S	probably benign	Het
Il23r	A	C	6: 67,403,592 (GRCm39)	N436K	probably damaging	Het
Impg2	A	T	16: 56,072,470 (GRCm39)	I301L	probably benign	Het
Irf4	A	T	13: 30,936,706 (GRCm39)	M146L	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kctd3	T	C	1: 188,704,777 (GRCm39)	S665G	probably damaging	Het
Kiz	T	C	2: 146,794,927 (GRCm39)	S596P	probably damaging	Het
Kpna2	T	C	11: 106,880,292 (GRCm39)	E452G	probably damaging	Het
Lclat1	A	G	17: 73,468,937 (GRCm39)	Y39C	probably damaging	Het
Lig3	A	G	11: 82,686,971 (GRCm39)	S705G	probably benign	Het
Lrp1b	T	C	2: 40,748,438 (GRCm39)	D3134G		Het
Map3k8	C	T	18: 4,349,170 (GRCm39)	M49I	probably benign	Het
Mep1b	A	G	18: 21,209,431 (GRCm39)	D54G	probably damaging	Het
Mgat5b	T	A	11: 116,857,533 (GRCm39)	S342R	probably benign	Het
Mthfd2l	G	T	5: 91,109,172 (GRCm39)	V201L	possibly damaging	Het
Naip6	G	T	13: 100,437,893 (GRCm39)	T371K	possibly damaging	Het
Naxd	T	C	8: 11,555,504 (GRCm39)	I104T	probably damaging	Het
Nbeal2	T	A	9: 110,456,916 (GRCm39)	I2361F	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e17	A	G	11: 73,831,470 (GRCm39)	T133A	probably benign	Het
Or6c75	A	T	10: 129,337,364 (GRCm39)	M196L	probably benign	Het
Or8b8	A	G	9: 37,808,712 (GRCm39)	E4G	probably benign	Het
Or8c16	T	G	9: 38,130,683 (GRCm39)	L185R	probably damaging	Het
Pga5	C	T	19: 10,646,897 (GRCm39)	G303S	probably damaging	Het
Polq	T	C	16: 36,862,252 (GRCm39)	F591L	probably damaging	Het
Ppp2r1a	A	T	17: 21,185,499 (GRCm39)		probably null	Het
Prrc1	A	G	18: 57,522,317 (GRCm39)	Y383C	probably damaging	Het
Ptgfr	A	T	3: 151,541,160 (GRCm39)	V116D	probably damaging	Het
Qpctl	C	T	7: 18,878,599 (GRCm39)	R292Q	possibly damaging	Het
Rasip1	G	A	7: 45,278,280 (GRCm39)	V194M	possibly damaging	Het
Rbbp4	A	T	4: 129,211,498 (GRCm39)	N385K	probably benign	Het
Rbbp8nl	A	G	2: 179,921,053 (GRCm39)	S444P	probably benign	Het
Resf1	T	C	6: 149,236,180 (GRCm39)	F1500S	probably damaging	Het
Sf3a1	G	A	11: 4,110,494 (GRCm39)	A3T	unknown	Het
Slc1a4	A	G	11: 20,282,025 (GRCm39)	S150P	probably damaging	Het
Slc28a2	T	C	2: 122,281,522 (GRCm39)		probably null	Het
Slc36a4	T	A	9: 15,633,319 (GRCm39)		probably null	Het
Slf2	A	G	19: 44,931,957 (GRCm39)	R671G	probably null	Het
Smarcc1	A	G	9: 110,035,220 (GRCm39)	K881R	probably null	Het
Srsf11	A	G	3: 157,717,836 (GRCm39)	V414A	unknown	Het
Tcn2	T	C	11: 3,873,446 (GRCm39)	N300S	probably damaging	Het
Tecta	T	C	9: 42,249,147 (GRCm39)	K1905R	probably damaging	Het
Tex30	T	G	1: 44,130,753 (GRCm39)		probably null	Het
Tktl2	A	T	8: 66,965,974 (GRCm39)	I511F	possibly damaging	Het
Tpp1	G	T	7: 105,398,881 (GRCm39)	Q183K	probably benign	Het
Trib2	A	C	12: 15,865,413 (GRCm39)	I30R	probably benign	Het
Tti1	A	G	2: 157,842,692 (GRCm39)	L779P	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	GAGCCA	GAGCCATAGCCA	4: 43,177,313 (GRCm39)		probably null	Het
Vmn2r112	A	G	17: 22,822,479 (GRCm39)	T386A	probably damaging	Het
Vps16	T	C	2: 130,283,823 (GRCm39)		probably null	Het
Zan	T	G	5: 137,434,745 (GRCm39)	N2186T	unknown	Het
Zdhhc11	C	T	13: 74,121,800 (GRCm39)	R104*	probably null	Het
Zfp318	T	G	17: 46,721,284 (GRCm39)	H1176Q	probably damaging	Het
Zfp335	G	A	2: 164,742,242 (GRCm39)	H581Y	probably damaging	Het
Zfp7	T	C	15: 76,775,674 (GRCm39)	I572T	probably damaging	Het
Zfp955a	T	C	17: 33,461,335 (GRCm39)	T266A	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
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
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
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'- GGCCGGACATATGCTGAAAG -3'
(R):5'- ACTACAAGCTGTCTGTATCCTG -3'

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

Posted On

2022-04-18