Mutagenetix > Incidental Mutation

Incidental Mutation 'R0591:Slc30a4'

55959

Institutional Source

Beutler Lab

Gene Symbol

Slc30a4

Ensembl Gene

ENSMUSG00000005802

Gene Name

solute carrier family 30 (zinc transporter), member 4

Synonyms

Znt4

MMRRC Submission

038781-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122523153-122544583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122527160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 411 (L411H)

Ref Sequence

ENSEMBL: ENSMUSP00000005952 (fasta)

Gene Model

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

AlphaFold

O35149

Predicted Effect

probably damaging
Transcript: ENSMUST00000005952
AA Change: L411H

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

SMART Domains

Protein: ENSMUSP00000005952
Gene: ENSMUSG00000005802
AA Change: L411H

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: L362H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097056
Gene: ENSMUSG00000005802
AA Change: L362H

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

Meta Mutation Damage Score

0.0896

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.7%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,774,704 (GRCm39)	E1298*	probably null	Het
Aadacl2fm2	C	A	3: 59,659,550 (GRCm39)	Y334*	probably null	Het
Adam19	T	C	11: 46,012,238 (GRCm39)		probably benign	Het
Agt	A	T	8: 125,283,678 (GRCm39)	S480R	possibly damaging	Het
Anapc1	G	T	2: 128,461,252 (GRCm39)	D1769E	probably benign	Het
Aox4	T	C	1: 58,278,261 (GRCm39)		probably benign	Het
Apol9b	G	A	15: 77,619,830 (GRCm39)	V209I	possibly damaging	Het
Appl2	A	T	10: 83,460,509 (GRCm39)	I116K	possibly damaging	Het
BC051665	A	G	13: 60,932,422 (GRCm39)		probably benign	Het
Cactin	G	T	10: 81,159,837 (GRCm39)	E89*	probably null	Het
Carf	G	T	1: 60,165,073 (GRCm39)		probably benign	Het
Ccdc167	A	G	17: 29,924,235 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,885,808 (GRCm39)		probably null	Het
Clca4b	T	A	3: 144,621,353 (GRCm39)	K574*	probably null	Het
Crabp1	T	A	9: 54,672,887 (GRCm39)	I64N	probably damaging	Het
Dgkd	T	A	1: 87,842,826 (GRCm39)	I118N	probably damaging	Het
Dglucy	T	C	12: 100,825,777 (GRCm39)		probably benign	Het
Dock10	C	T	1: 80,518,936 (GRCm39)		probably benign	Het
Ednrb	A	T	14: 104,060,710 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,279,973 (GRCm39)		probably benign	Het
Golga3	A	C	5: 110,336,609 (GRCm39)	Q416P	probably damaging	Het
Gpr12	A	G	5: 146,520,445 (GRCm39)	V159A	probably benign	Het
Heatr5a	A	T	12: 51,956,884 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,873,909 (GRCm39)	I2195T	probably damaging	Het
Hikeshi	A	T	7: 89,569,295 (GRCm39)	N76K	possibly damaging	Het
Hsd11b1	T	C	1: 192,911,984 (GRCm39)		probably benign	Het
Iftap	A	T	2: 101,406,462 (GRCm39)	D155E	probably benign	Het
Inhba	A	T	13: 16,201,405 (GRCm39)	K322N	probably damaging	Het
Katnal1	A	T	5: 148,829,326 (GRCm39)	F291L	probably damaging	Het
Kcnj9	T	C	1: 172,150,665 (GRCm39)	E316G	probably damaging	Het
Lrsam1	A	G	2: 32,823,935 (GRCm39)		probably benign	Het
Mcf2l	T	G	8: 13,068,751 (GRCm39)	S1075A	probably benign	Het
Mios	T	C	6: 8,215,470 (GRCm39)	V222A	possibly damaging	Het
Mycbp2	A	T	14: 103,433,827 (GRCm39)		probably benign	Het
Nars1	A	T	18: 64,633,638 (GRCm39)	I544N	probably damaging	Het
Or5ak23	A	G	2: 85,245,034 (GRCm39)	L63P	possibly damaging	Het
Pbrm1	A	G	14: 30,768,387 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,796,932 (GRCm39)		probably benign	Het
Pnliprp1	A	G	19: 58,723,138 (GRCm39)	D213G	probably damaging	Het
Psap	A	G	10: 60,136,634 (GRCm39)	N538D	possibly damaging	Het
Ptdss1	A	G	13: 67,120,714 (GRCm39)		probably benign	Het
Rap1b	G	A	10: 117,654,522 (GRCm39)		probably benign	Het
Rhcg	T	A	7: 79,244,520 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,804,220 (GRCm39)	T550I	possibly damaging	Het
Samm50	G	A	15: 84,095,369 (GRCm39)	G452R	probably benign	Het
Scin	A	G	12: 40,130,929 (GRCm39)		probably null	Het
Sesn3	T	C	9: 14,219,854 (GRCm39)	L81S	probably damaging	Het
Skint6	A	C	4: 112,715,366 (GRCm39)		probably benign	Het
Slc44a5	C	T	3: 153,939,782 (GRCm39)		probably benign	Het
Slc4a3	C	T	1: 75,525,665 (GRCm39)	A255V	probably damaging	Het
Slc9b1	A	G	3: 135,088,593 (GRCm39)	N318S	possibly damaging	Het
Tcp11l2	A	T	10: 84,440,458 (GRCm39)	H287L	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tnks2	T	A	19: 36,849,962 (GRCm39)	Y605N	probably damaging	Het
Topbp1	T	A	9: 103,227,037 (GRCm39)	N1490K	probably benign	Het
Ube4b	T	G	4: 149,442,034 (GRCm39)		probably benign	Het
Usp4	G	A	9: 108,225,228 (GRCm39)		probably benign	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn1r184	A	T	7: 25,966,500 (GRCm39)	D82V	probably damaging	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
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
R6379:Slc30a4	UTSW	2	122,531,469 (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'- TGGTGCTTGACATGGACACAGC -3'
(R):5'- TGGGCTTAGAAACTGCCTTCTGC -3'

Sequencing Primer
(F):5'- AGCTGTCAGGGACTCCATTAG -3'
(R):5'- CAGTAGAAGGGCTTAAGAGACATC -3'

Posted On

2013-07-11