Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00561:Slc30a7'

14083

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc30a7

Ensembl Gene

ENSMUSG00000054414

Gene Name

solute carrier family 30 (zinc transporter), member 7

Synonyms

2610034N15Rik, 4833428C12Rik, 1810059J10Rik, ZnT-7, ZnT7

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.783) question?

Stock #

IGL00561

Quality Score

Status

Chromosome

Chromosomal Location

115938973-116007406 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 115946720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067485] [ENSMUST00000067485] [ENSMUST00000067485]

AlphaFold

Q9JKN1

Predicted Effect

probably null
Transcript: ENSMUST00000067485

SMART Domains

Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	38	296	3.3e-46	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000067485

SMART Domains

Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	38	296	3.3e-46	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000067485

SMART Domains

Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	38	296	3.3e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199743

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a low body zinc status, reduced food intake and poor body weight gain, and are lean due to a significant reduction in body fat accumulation; however, no signs of hair growth abnormalities or dermatitis are observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	T	A	4: 73,942,719	T215S	possibly damaging	Het
9130019O22Rik	T	A	7: 127,386,544		probably benign	Het
Bcl6b	T	C	11: 70,228,484		probably benign	Het
C8a	G	A	4: 104,865,445		probably benign	Het
Cep152	G	A	2: 125,563,723	Q1630*	probably null	Het
Dnah6	T	C	6: 73,195,620	N285S	possibly damaging	Het
Elovl5	G	A	9: 77,960,974	R56Q	probably benign	Het
Fcf1	T	C	12: 84,973,061	V36A	probably benign	Het
Gdf3	A	G	6: 122,607,126	L94P	probably damaging	Het
Kcnt2	A	T	1: 140,523,098	H705L	probably damaging	Het
Ly75	A	T	2: 60,376,077	C83S	probably damaging	Het
Med12l	T	A	3: 59,227,824	S798T	probably benign	Het
Morc3	G	T	16: 93,873,395		probably null	Het
Neb	A	T	2: 52,206,105	N1049K	probably benign	Het
Nlrp6	A	G	7: 140,923,124	D381G	probably damaging	Het
Pcnx	A	T	12: 81,996,053	D2303V	probably damaging	Het
Prss45	A	T	9: 110,840,510	N227I	probably damaging	Het
Rbbp6	G	A	7: 122,971,063	M34I	probably damaging	Het
Smpdl3a	T	C	10: 57,807,946	Y267H	probably benign	Het
Snw1	A	G	12: 87,450,804		probably null	Het
Sp140	G	A	1: 85,621,672	R208K	probably benign	Het
Tbx19	A	G	1: 165,160,399	V55A	probably benign	Het
Tmem131	A	G	1: 36,811,427	S1059P	probably damaging	Het
Tpo	G	A	12: 30,084,620	P780S	probably damaging	Het
Ttn	G	A	2: 76,739,711	T26946M	probably damaging	Het
Vps33b	A	G	7: 80,285,843	E372G	probably damaging	Het
Vwf	T	C	6: 125,642,721	V1454A	possibly damaging	Het
Zbbx	C	T	3: 75,061,532		probably null	Het

Other mutations in Slc30a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Slc30a7	APN	3	115954110	missense	possibly damaging	0.54
IGL01360:Slc30a7	APN	3	115990116	missense	probably damaging	1.00
IGL02573:Slc30a7	APN	3	115990147	splice site	probably benign
R0833:Slc30a7	UTSW	3	115990140	critical splice acceptor site	probably null
R0836:Slc30a7	UTSW	3	115990140	critical splice acceptor site	probably null
R1381:Slc30a7	UTSW	3	115956870	critical splice donor site	probably null
R2445:Slc30a7	UTSW	3	115978653	missense	probably damaging	1.00
R4072:Slc30a7	UTSW	3	115946680	missense	probably damaging	0.96
R4850:Slc30a7	UTSW	3	115993008	missense	probably damaging	0.99
R5429:Slc30a7	UTSW	3	116006925	missense	possibly damaging	0.90
R5586:Slc30a7	UTSW	3	115990051	missense	probably benign	0.36
R6170:Slc30a7	UTSW	3	115990743	missense	probably damaging	1.00
R6813:Slc30a7	UTSW	3	115981811	missense	probably benign	0.01
R6889:Slc30a7	UTSW	3	115954153	missense	probably damaging	1.00
R8445:Slc30a7	UTSW	3	116007346	unclassified	probably benign
R8872:Slc30a7	UTSW	3	115946668	missense	possibly damaging	0.69
X0023:Slc30a7	UTSW	3	115990025	missense	probably damaging	0.98

Posted On

2012-12-06