Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01065:Slc39a13'

50387

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc39a13

Ensembl Gene

ENSMUSG00000002105

Gene Name

solute carrier family 39 (metal ion transporter), member 13

Synonyms

ZIP13, 1100001L14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

IGL01065

Quality Score

Status

Chromosome

Chromosomal Location

90892136-90900754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90894051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 256 (I256F)

Ref Sequence

ENSEMBL: ENSMUSP00000107063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002171] [ENSMUST00000067663] [ENSMUST00000073575] [ENSMUST00000079976] [ENSMUST00000111436] [ENSMUST00000111441] [ENSMUST00000153367]

AlphaFold

Q8BZH0

Predicted Effect

probably benign
Transcript: ENSMUST00000002171

SMART Domains

Protein: ENSMUSP00000002171
Gene: ENSMUSG00000002102

Domain	Start	End	E-Value	Type
AAA	222	361	6.65e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000067663

SMART Domains

Protein: ENSMUSP00000071054
Gene: ENSMUSG00000002102

Domain	Start	End	E-Value	Type
AAA	222	361	6.65e-22	SMART
Blast:AAA	390	436	9e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000073575
AA Change: I243F

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073263
Gene: ENSMUSG00000002105
AA Change: I243F

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Zip	65	357	5e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079976
AA Change: I42F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000078892
Gene: ENSMUSG00000002105
AA Change: I42F

Domain	Start	End	E-Value	Type
Pfam:Zip	3	156	3.1e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111436
AA Change: I256F

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

SMART Domains

Protein: ENSMUSP00000107063
Gene: ENSMUSG00000002105
AA Change: I256F

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Zip	65	214	2.4e-14	PFAM
Pfam:Zip	206	370	5.8e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111441

SMART Domains

Protein: ENSMUSP00000107068
Gene: ENSMUSG00000002102

Domain	Start	End	E-Value	Type
AAA	180	319	6.65e-22	SMART
Blast:AAA	348	394	8e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142943

Predicted Effect

probably benign
Transcript: ENSMUST00000153367

SMART Domains

Protein: ENSMUSP00000118308
Gene: ENSMUSG00000002105

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
transmembrane domain	115	137	N/A	INTRINSIC

Coding Region Coverage

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 LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for disruption of this gene display skeletal abnormalities and dental abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Apob	A	G	12: 8,053,299 (GRCm39)	Y1247C	probably damaging	Het
Atg16l1	A	T	1: 87,713,653 (GRCm39)	N401I	probably damaging	Het
Bcam	T	C	7: 19,490,724 (GRCm39)	H591R	probably benign	Het
Bcat1	T	C	6: 144,946,015 (GRCm39)	S446G	possibly damaging	Het
C2cd5	A	G	6: 143,024,005 (GRCm39)	S262P	probably damaging	Het
Clrn1	T	C	3: 58,792,446 (GRCm39)	K6E	probably damaging	Het
D17H6S53E	A	T	17: 35,346,259 (GRCm39)	K57*	probably null	Het
Dennd1a	T	A	2: 37,734,917 (GRCm39)	I17F	probably benign	Het
Depdc7	A	C	2: 104,552,426 (GRCm39)	Y460*	probably null	Het
Disp3	T	C	4: 148,345,640 (GRCm39)	Y400C	probably damaging	Het
Edem3	T	C	1: 151,653,302 (GRCm39)	Y203H	probably damaging	Het
Fbxl5	A	G	5: 43,902,676 (GRCm39)	C679R	probably damaging	Het
Fhad1	T	C	4: 141,632,923 (GRCm39)	T1194A	probably benign	Het
Garin4	T	C	1: 190,895,224 (GRCm39)	D473G	probably benign	Het
Gipc2	A	G	3: 151,808,294 (GRCm39)	L253P	possibly damaging	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Hoxb6	A	G	11: 96,191,635 (GRCm39)	T186A	probably damaging	Het
Kif24	A	G	4: 41,423,639 (GRCm39)		probably benign	Het
Lonp1	T	C	17: 56,922,500 (GRCm39)		probably benign	Het
Lrp1	A	G	10: 127,410,907 (GRCm39)	I1427T	probably benign	Het
Lrp2	C	T	2: 69,299,780 (GRCm39)	E3091K	possibly damaging	Het
Lzts1	T	C	8: 69,588,744 (GRCm39)	N404S	probably benign	Het
Map3k4	A	T	17: 12,451,877 (GRCm39)	D1470E	probably damaging	Het
Med30	A	T	15: 52,584,456 (GRCm39)	N125Y	probably benign	Het
Mgam	G	A	6: 40,639,644 (GRCm39)		probably null	Het
Mrps33	G	A	6: 39,779,447 (GRCm39)	R83*	probably null	Het
Notch3	A	T	17: 32,365,390 (GRCm39)	Y1107*	probably null	Het
Rc3h2	T	A	2: 37,267,856 (GRCm39)		probably benign	Het
Rev1	T	C	1: 38,138,090 (GRCm39)	E65G	possibly damaging	Het
Rgl1	T	C	1: 152,394,893 (GRCm39)	N760S	probably damaging	Het
Slc16a4	T	C	3: 107,210,416 (GRCm39)	I362T	possibly damaging	Het
Slc25a24	G	A	3: 109,065,967 (GRCm39)		probably benign	Het
Slc2a4	G	T	11: 69,836,782 (GRCm39)		probably benign	Het
Spdya	A	T	17: 71,863,320 (GRCm39)	N23I	possibly damaging	Het
Srpra	T	A	9: 35,124,734 (GRCm39)	W112R	probably damaging	Het
Tbc1d4	A	C	14: 101,686,629 (GRCm39)		probably benign	Het
Ttc39d	G	A	17: 80,523,703 (GRCm39)	G121R	probably damaging	Het
Tuba3a	C	T	6: 125,259,920 (GRCm39)	V9M	possibly damaging	Het
Upf2	A	G	2: 5,966,111 (GRCm39)	K244E	unknown	Het
Usp39	T	C	6: 72,316,958 (GRCm39)	Y141C	probably damaging	Het

Other mutations in Slc39a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02172:Slc39a13	APN	2	90,893,505 (GRCm39)	missense	possibly damaging	0.94
IGL03405:Slc39a13	APN	2	90,893,448 (GRCm39)	missense	probably damaging	0.98
R0512:Slc39a13	UTSW	2	90,896,031 (GRCm39)	missense	possibly damaging	0.67
R1472:Slc39a13	UTSW	2	90,899,050 (GRCm39)	nonsense	probably null
R1624:Slc39a13	UTSW	2	90,898,871 (GRCm39)	missense	probably damaging	1.00
R1713:Slc39a13	UTSW	2	90,893,442 (GRCm39)	missense	probably damaging	1.00
R4013:Slc39a13	UTSW	2	90,895,247 (GRCm39)	splice site	probably null
R6178:Slc39a13	UTSW	2	90,898,880 (GRCm39)	missense	probably damaging	1.00
R7237:Slc39a13	UTSW	2	90,895,979 (GRCm39)	missense	probably benign	0.31
R7250:Slc39a13	UTSW	2	90,893,503 (GRCm39)	missense	probably benign	0.18

Posted On

2013-06-21