Mutagenetix > Incidental Mutation

Incidental Mutation 'R6379:Slc30a4'

515179

Institutional Source

Beutler Lab

Gene Symbol

Slc30a4

Ensembl Gene

ENSMUSG00000005802

Gene Name

solute carrier family 30 (zinc transporter), member 4

Synonyms

Znt4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6379 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122523153-122544583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122531469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 132 (V132D)

Ref Sequence

ENSEMBL: ENSMUSP00000097056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005952] [ENSMUST00000099457]

AlphaFold

O35149

Predicted Effect

probably damaging
Transcript: ENSMUST00000005952
AA Change: V181D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005952
Gene: ENSMUSG00000005802
AA Change: V181D

Domain	Start	End	E-Value	Type
low complexity region	67	83	N/A	INTRINSIC
Pfam:Cation_efflux	114	333	1.3e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099457
AA Change: V132D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097056
Gene: ENSMUSG00000005802
AA Change: V132D

Domain	Start	End	E-Value	Type
low complexity region	67	83	N/A	INTRINSIC
Pfam:Cation_efflux	124	368	4.6e-46	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant dams produce zinc-deficient milk that is lethal to all nursing pups. Pleiotropic defects observed in mutant males and females include otolith degeneration, impaired motor coordination, alopecia, and dermatitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	T	2: 152,269,912 (GRCm39)	R21S	probably benign	Het
Aadacl4fm1	G	T	4: 144,248,912 (GRCm39)	R93L	probably benign	Het
Adcy5	A	T	16: 35,114,369 (GRCm39)	T991S	probably benign	Het
Aldh18a1	A	T	19: 40,566,214 (GRCm39)		probably null	Het
Anxa1	T	C	19: 20,351,079 (GRCm39)	*347W	probably null	Het
Aopep	T	A	13: 63,216,057 (GRCm39)	I443K	probably damaging	Het
Arid1a	G	T	4: 133,408,238 (GRCm39)	L2090I	unknown	Het
Armh3	A	T	19: 45,910,136 (GRCm39)	V472D	possibly damaging	Het
Bambi	T	A	18: 3,512,198 (GRCm39)	L194Q	probably damaging	Het
Card9	A	G	2: 26,246,789 (GRCm39)	V353A	probably damaging	Het
Ccdc198	T	A	14: 49,481,191 (GRCm39)	I99F	probably benign	Het
Ccdc60	C	A	5: 116,269,082 (GRCm39)		probably null	Het
Ccdc71	A	G	9: 108,340,811 (GRCm39)	K208R	possibly damaging	Het
Cdh12	T	C	15: 21,492,743 (GRCm39)	V254A	probably benign	Het
Cep295nl	T	A	11: 118,224,556 (GRCm39)	N96I	probably benign	Het
Ces1f	C	A	8: 94,006,279 (GRCm39)	C17F	probably benign	Het
Clic6	C	A	16: 92,336,423 (GRCm39)	T577K	probably damaging	Het
Col28a1	T	C	6: 8,012,996 (GRCm39)	M1019V	probably benign	Het
Ctnnd2	C	A	15: 30,634,844 (GRCm39)	S73Y	probably damaging	Het
Daam1	C	T	12: 71,998,712 (GRCm39)	L556F	unknown	Het
Dchs2	A	C	3: 83,262,453 (GRCm39)	N2907T	probably damaging	Het
Dlgap3	A	C	4: 127,128,767 (GRCm39)	E829A	probably damaging	Het
Dpysl5	A	T	5: 30,935,317 (GRCm39)		probably null	Het
Draxin	C	A	4: 148,192,400 (GRCm39)	C304F	probably damaging	Het
Eif3j1	A	G	2: 121,878,005 (GRCm39)	D131G	possibly damaging	Het
Fads1	T	C	19: 10,160,551 (GRCm39)	Y46H	probably damaging	Het
Fcgbpl1	A	C	7: 27,857,017 (GRCm39)	T2122P	probably damaging	Het
Figla	T	A	6: 85,995,562 (GRCm39)	I72K	probably damaging	Het
Fnbp4	T	A	2: 90,581,468 (GRCm39)	S174T	probably benign	Het
Foxn3	C	A	12: 99,162,537 (GRCm39)	A455S	probably benign	Het
Fyn	C	T	10: 39,331,070 (GRCm39)		probably benign	Het
Gtse1	G	A	15: 85,748,425 (GRCm39)	G277S	probably benign	Het
H2bc15	T	A	13: 21,938,588 (GRCm39)	V99E	probably benign	Het
Icam4	C	A	9: 20,941,078 (GRCm39)	A110E	probably damaging	Het
Itih3	G	A	14: 30,631,681 (GRCm39)	S802L	probably damaging	Het
Kcng4	T	A	8: 120,360,359 (GRCm39)	R6*	probably null	Het
Kmt2c	A	T	5: 25,564,339 (GRCm39)	C977S	probably damaging	Het
Lrrc8d	A	T	5: 105,960,675 (GRCm39)	M362L	probably benign	Het
Mtus2	T	C	5: 148,014,008 (GRCm39)	I267T	probably benign	Het
Nab1	A	G	1: 52,520,156 (GRCm39)	V275A	probably damaging	Het
Nfasc	G	A	1: 132,498,280 (GRCm39)	Q1308*	probably null	Het
Nop9	T	C	14: 55,983,249 (GRCm39)	S7P	possibly damaging	Het
Npbwr1	G	T	1: 5,987,438 (GRCm39)	N25K	probably benign	Het
Nptx2	T	C	5: 144,490,252 (GRCm39)	L227P	probably damaging	Het
Nrg1	T	C	8: 33,373,749 (GRCm39)		probably benign	Het
Nup160	T	A	2: 90,532,753 (GRCm39)	C571*	probably null	Het
Nynrin	T	C	14: 56,107,848 (GRCm39)	L985P	probably damaging	Het
Obsl1	A	C	1: 75,479,787 (GRCm39)	L341R	probably damaging	Het
Or1r1	T	G	11: 73,875,099 (GRCm39)	S112R	probably damaging	Het
Pate7	T	A	9: 35,689,381 (GRCm39)		probably benign	Het
Phip	G	T	9: 82,795,910 (GRCm39)	N570K	probably damaging	Het
Pigx	A	T	16: 31,903,341 (GRCm39)	I240N	probably damaging	Het
Platr25	T	C	13: 62,854,051 (GRCm39)	D37G	probably damaging	Het
Ppl	A	T	16: 4,915,555 (GRCm39)	M639K	probably benign	Het
Scnn1b	T	G	7: 121,514,551 (GRCm39)	M441R	probably benign	Het
Sh3gl1	A	T	17: 56,326,143 (GRCm39)	M121K	probably damaging	Het
Slc38a7	A	G	8: 96,575,155 (GRCm39)	S42P	probably benign	Het
Slc66a1	G	A	4: 139,027,296 (GRCm39)	L349F	probably benign	Het
Srp68	A	G	11: 116,156,227 (GRCm39)	C172R	probably damaging	Het
Suz12	A	T	11: 79,906,014 (GRCm39)	D292V	possibly damaging	Het
Sv2b	A	T	7: 74,786,048 (GRCm39)	D457E	possibly damaging	Het
Tas2r120	T	C	6: 132,634,773 (GRCm39)	V285A	probably benign	Het
Tdo2	T	A	3: 81,866,102 (GRCm39)		probably benign	Het
Them7	G	T	2: 105,115,031 (GRCm39)		probably null	Het
Tnip2	T	C	5: 34,660,979 (GRCm39)	T158A	probably damaging	Het
Tonsl	C	T	15: 76,513,942 (GRCm39)	R1209H	probably benign	Het
Trpc2	T	A	7: 101,745,298 (GRCm39)	L838*	probably null	Het
Trpm1	A	G	7: 63,848,942 (GRCm39)	I63V	probably benign	Het
Vps13d	A	T	4: 144,814,828 (GRCm39)	N90K	probably benign	Het
Ylpm1	C	T	12: 85,077,574 (GRCm39)	S1433F	probably damaging	Het
Zbtb18	A	G	1: 177,275,141 (GRCm39)	D158G	probably damaging	Het
Zfhx2	T	A	14: 55,311,795 (GRCm39)	T300S	probably benign	Het
Zscan2	T	A	7: 80,513,085 (GRCm39)	D23E	probably benign	Het

Other mutations in Slc30a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Slc30a4	APN	2	122,544,308 (GRCm39)	missense	possibly damaging	0.87
IGL01583:Slc30a4	APN	2	122,527,137 (GRCm39)	missense	probably benign
IGL01823:Slc30a4	APN	2	122,544,012 (GRCm39)	missense	probably damaging	1.00
IGL02086:Slc30a4	APN	2	122,543,947 (GRCm39)	splice site	probably benign
F5770:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
R0060:Slc30a4	UTSW	2	122,527,104 (GRCm39)	missense	probably benign
R0060:Slc30a4	UTSW	2	122,527,104 (GRCm39)	missense	probably benign
R0373:Slc30a4	UTSW	2	122,531,319 (GRCm39)	missense	probably damaging	0.99
R0591:Slc30a4	UTSW	2	122,527,160 (GRCm39)	missense	probably damaging	1.00
R1514:Slc30a4	UTSW	2	122,531,334 (GRCm39)	missense	probably damaging	1.00
R1552:Slc30a4	UTSW	2	122,527,936 (GRCm39)	missense	probably benign	0.05
R3847:Slc30a4	UTSW	2	122,544,192 (GRCm39)	missense	probably damaging	1.00
R4195:Slc30a4	UTSW	2	122,527,190 (GRCm39)	missense	probably damaging	1.00
R4501:Slc30a4	UTSW	2	122,527,136 (GRCm39)	missense	probably benign
R5558:Slc30a4	UTSW	2	122,528,903 (GRCm39)	missense	probably damaging	1.00
R6393:Slc30a4	UTSW	2	122,527,966 (GRCm39)	missense	probably damaging	1.00
R7394:Slc30a4	UTSW	2	122,527,224 (GRCm39)	missense	possibly damaging	0.93
R9464:Slc30a4	UTSW	2	122,527,200 (GRCm39)	missense	probably damaging	1.00
R9765:Slc30a4	UTSW	2	122,536,456 (GRCm39)	missense	probably damaging	1.00
V7580:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
V7581:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
V7582:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
V7583:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTCTGTATACATGCATGTGC -3'
(R):5'- AAGCTCTACTTTGGCATTTTCATGC -3'

Sequencing Primer
(F):5'- GCATGTGCAATAATCTTTTGGCTC -3'
(R):5'- ATCAGTTTTACCTTGTGAATGGAG -3'

Posted On

2018-05-04