Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01863:Slc30a1'

178410

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc30a1

Ensembl Gene

ENSMUSG00000037434

Gene Name

solute carrier family 30 (zinc transporter), member 1

Synonyms

Znt1, C130040I11Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01863

Quality Score

Status

Chromosome

Chromosomal Location

191906767-191913247 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 191909084 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 281 (C281S)

Ref Sequence

ENSEMBL: ENSMUSP00000042410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044954] [ENSMUST00000161756]

Predicted Effect

probably damaging
Transcript: ENSMUST00000044954
AA Change: C281S

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

SMART Domains

Protein: ENSMUSP00000042410
Gene: ENSMUSG00000037434
AA Change: C281S

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	11	278	7.3e-43	PFAM
transmembrane domain	306	328	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069573

SMART Domains

Protein: ENSMUSP00000063209
Gene: ENSMUSG00000055833

Domain	Start	End	E-Value	Type
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139827

SMART Domains

Protein: ENSMUSP00000136990
Gene: ENSMUSG00000055833

Domain	Start	End	E-Value	Type
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161756

SMART Domains

Protein: ENSMUSP00000124176
Gene: ENSMUSG00000037434

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	1	119	1.5e-17	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality soon after implantation with embryonic growth arrest at the egg cylinder stage. Embryos from heterozygous females on a zinc deficient diet develop abnormally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	A	10: 42,339,911	I326F	possibly damaging	Het
Aimp1	T	C	3: 132,672,092	T171A	probably benign	Het
Armc4	T	C	18: 7,222,617	T551A	probably damaging	Het
Ash1l	T	A	3: 88,985,506	L1564*	probably null	Het
Atp1a1	G	T	3: 101,591,889	Y131*	probably null	Het
Celsr2	T	C	3: 108,394,022	E2686G	probably benign	Het
Cyp4f18	A	G	8: 71,989,926	V395A	possibly damaging	Het
Ephb2	T	C	4: 136,659,777	Q713R	probably benign	Het
Esf1	A	T	2: 140,120,679	M824K	probably benign	Het
Fam46c	C	T	3: 100,472,664	D259N	probably benign	Het
Fat4	T	C	3: 38,970,619		probably benign	Het
Gem	A	G	4: 11,705,980	I23V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Il6st	A	G	13: 112,504,210	E779G	possibly damaging	Het
Lama3	T	A	18: 12,419,936		probably benign	Het
Lipi	A	C	16: 75,550,226	I435R	probably damaging	Het
Lrrc6	A	T	15: 66,396,974		probably benign	Het
Olfr291	T	C	7: 84,856,411	L14P	probably damaging	Het
Omg	C	T	11: 79,502,224	M269I	probably benign	Het
Optn	A	T	2: 5,021,487		probably benign	Het
Pex1	A	G	5: 3,606,066	T298A	probably benign	Het
Rab27b	T	A	18: 69,989,554	R111S	probably damaging	Het
Rhbdf1	T	G	11: 32,213,484	E329D	probably benign	Het
Slc2a13	T	C	15: 91,516,492	I176V	probably benign	Het
Slc4a7	T	A	14: 14,762,430	C509S	probably damaging	Het
Slfn9	T	C	11: 82,981,325	R862G	probably benign	Het
Tbc1d2	A	G	4: 46,607,064	I782T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps33b	T	C	7: 80,274,311		probably null	Het
Wrap73	A	G	4: 154,145,333	I54V	probably benign	Het

Other mutations in Slc30a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Slc30a1	APN	1	191909079	missense	probably damaging	1.00
IGL02451:Slc30a1	APN	1	191907329	missense	possibly damaging	0.95
R0416:Slc30a1	UTSW	1	191909726	missense	probably benign	0.23
R0610:Slc30a1	UTSW	1	191909424	missense	probably damaging	1.00
R2513:Slc30a1	UTSW	1	191907562	missense	possibly damaging	0.93
R4067:Slc30a1	UTSW	1	191907289	missense	probably damaging	1.00
R4782:Slc30a1	UTSW	1	191909048	missense	probably benign	0.24
R5359:Slc30a1	UTSW	1	191909753	makesense	probably null
R5473:Slc30a1	UTSW	1	191909622	missense	possibly damaging	0.88
R5790:Slc30a1	UTSW	1	191908885	missense	probably benign	0.00
R5984:Slc30a1	UTSW	1	191907100	missense	probably damaging	1.00
R7282:Slc30a1	UTSW	1	191909432	missense	probably benign	0.08
R7955:Slc30a1	UTSW	1	191907283	missense	probably damaging	1.00
Z1177:Slc30a1	UTSW	1	191907527	frame shift	probably null

Posted On

2014-05-07