Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03405:Slc39a13'

421569

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 #

IGL03405

Quality Score

Status

Chromosome

Chromosomal Location

90892136-90900754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90893448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 324 (V324A)

Ref Sequence

ENSEMBL: ENSMUSP00000073263 (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 damaging
Transcript: ENSMUST00000073575
AA Change: V324A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073263
Gene: ENSMUSG00000002105
AA Change: V324A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079976
AA Change: V123A

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078892
Gene: ENSMUSG00000002105
AA Change: V123A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111436
AA Change: V337A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107063
Gene: ENSMUSG00000002105
AA Change: V337A

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: ENSMUST00000130252

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,907,229 (GRCm39)	V101A	probably benign	Het
Btbd3	G	A	2: 138,121,681 (GRCm39)	M121I	probably damaging	Het
Caprin1	G	A	2: 103,609,850 (GRCm39)	R143C	probably damaging	Het
Cfap206	A	G	4: 34,716,445 (GRCm39)	I340T	possibly damaging	Het
Chmp6	A	G	11: 119,806,273 (GRCm39)	Y33C	probably damaging	Het
Clstn3	T	C	6: 124,415,327 (GRCm39)	D679G	possibly damaging	Het
Col24a1	G	A	3: 145,020,918 (GRCm39)	A430T	possibly damaging	Het
Commd6	A	T	14: 101,874,508 (GRCm39)	V28E	probably damaging	Het
Eno2	T	A	6: 124,740,848 (GRCm39)	Y236F	probably benign	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Evpl	A	G	11: 116,118,753 (GRCm39)	I648T	possibly damaging	Het
Fat1	T	A	8: 45,478,278 (GRCm39)	D2441E	probably damaging	Het
Fat4	T	C	3: 39,012,599 (GRCm39)	V2298A	probably benign	Het
Fbxl8	C	A	8: 105,994,752 (GRCm39)	T88K	probably benign	Het
Ganc	A	G	2: 120,264,247 (GRCm39)	H400R	probably damaging	Het
Helb	G	A	10: 119,925,701 (GRCm39)	T892I	probably damaging	Het
Jaml	A	T	9: 45,005,107 (GRCm39)	K124N	possibly damaging	Het
Llgl2	G	T	11: 115,741,668 (GRCm39)	E599D	probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nr2e1	G	A	10: 42,444,377 (GRCm39)	A244V	probably damaging	Het
Obscn	T	C	11: 58,890,950 (GRCm39)	K7194R	unknown	Het
Or2o1	A	G	11: 49,051,713 (GRCm39)		probably null	Het
Or5m8	A	G	2: 85,822,230 (GRCm39)	Q23R	possibly damaging	Het
Rasgrf2	A	T	13: 92,044,170 (GRCm39)	I961N	probably damaging	Het
Retreg3	T	C	11: 100,991,795 (GRCm39)	D46G	probably damaging	Het
Rtp2	A	C	16: 23,746,326 (GRCm39)	S122A	probably benign	Het
Sbf2	T	A	7: 110,062,139 (GRCm39)	D146V	probably damaging	Het
Sptan1	A	G	2: 29,915,593 (GRCm39)	T2013A	probably damaging	Het
Tnni3k	A	G	3: 154,498,404 (GRCm39)		probably benign	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Trpm2	G	A	10: 77,801,906 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,539,276 (GRCm39)	L34570P	possibly damaging	Het
Vmn2r100	T	C	17: 19,752,186 (GRCm39)	V806A	probably damaging	Het
Wdr70	A	G	15: 8,065,352 (GRCm39)	S237P	possibly damaging	Het
Wnk1	T	C	6: 119,930,856 (GRCm39)	N896S	probably benign	Het
Zan	T	A	5: 137,422,859 (GRCm39)	D2718V	unknown	Het

Other mutations in Slc39a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Slc39a13	APN	2	90,894,051 (GRCm39)	missense	probably damaging	1.00
IGL02172:Slc39a13	APN	2	90,893,505 (GRCm39)	missense	possibly damaging	0.94
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

2016-08-02