Mutagenetix > Incidental Mutation

Incidental Mutation 'R4013:Slc39a13'

311804

Institutional Source

Beutler Lab

Gene Symbol

Slc39a13

Ensembl Gene

ENSMUSG00000002105

Gene Name

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

Synonyms

ZIP13, 1100001L14Rik

MMRRC Submission

040950-MU

Accession Numbers

Essential gene?

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

Stock #

R4013 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

90892136-90900754 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 90895247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002171] [ENSMUST00000073575] [ENSMUST00000079976] [ENSMUST00000111436] [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 null
Transcript: ENSMUST00000073575

SMART Domains

Protein: ENSMUSP00000073263
Gene: ENSMUSG00000002105

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

SMART Domains

Protein: ENSMUSP00000078892
Gene: ENSMUSG00000002105

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

Predicted Effect

probably null
Transcript: ENSMUST00000111436

SMART Domains

Protein: ENSMUSP00000107063
Gene: ENSMUSG00000002105

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

noncoding transcript
Transcript: ENSMUST00000123685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133047

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141328

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 92.4%

Validation Efficiency

98% (47/48)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,668,104 (GRCm39)	Q168R	probably benign	Het
Adgrg3	A	G	8: 95,761,727 (GRCm39)		probably benign	Het
Apold1	A	G	6: 134,960,869 (GRCm39)	I108V	probably benign	Het
Atp6v0a2	G	A	5: 124,789,860 (GRCm39)	V429M	probably damaging	Het
Cbln4	A	T	2: 171,879,477 (GRCm39)	M137K	probably damaging	Het
Cfap57	A	G	4: 118,450,340 (GRCm39)	V594A	probably benign	Het
Chd9	A	G	8: 91,699,797 (GRCm39)	E28G	possibly damaging	Het
Clip4	T	A	17: 72,163,541 (GRCm39)	C704*	probably null	Het
Col8a2	T	A	4: 126,204,908 (GRCm39)		probably benign	Het
Cyp3a59	A	G	5: 146,016,193 (GRCm39)	T17A	probably benign	Het
Cyp4f14	G	A	17: 33,135,853 (GRCm39)	Q3*	probably null	Het
Cysltr2	A	G	14: 73,267,005 (GRCm39)	I235T	probably damaging	Het
Esp34	C	A	17: 38,870,446 (GRCm39)	C45*	probably null	Het
Gabrg2	T	C	11: 41,862,707 (GRCm39)	K126E	possibly damaging	Het
Gm4846	A	C	1: 166,322,249 (GRCm39)		probably null	Het
Igsf21	T	C	4: 139,764,780 (GRCm39)	N165S	possibly damaging	Het
Kcnf1	A	G	12: 17,225,994 (GRCm39)	F76L	probably benign	Het
Kcns1	A	G	2: 164,010,177 (GRCm39)	V194A	probably damaging	Het
Kdm5a	T	A	6: 120,371,067 (GRCm39)	Y504N	probably damaging	Het
Kdm5b	A	G	1: 134,555,067 (GRCm39)	Y1325C	possibly damaging	Het
Kif1a	T	C	1: 93,004,014 (GRCm39)	D156G	probably damaging	Het
Lrp1b	A	G	2: 40,692,996 (GRCm39)	F3401L	possibly damaging	Het
Lrrc63	A	G	14: 75,335,731 (GRCm39)	Y460H	probably damaging	Het
Myo15b	G	T	11: 115,762,282 (GRCm39)	E1201*	probably null	Het
Ndor1	A	T	2: 25,140,162 (GRCm39)	I84K	probably damaging	Het
Ndst4	T	A	3: 125,476,819 (GRCm39)	Y15N	probably damaging	Het
Or51af1	T	C	7: 103,141,840 (GRCm39)	T82A	probably benign	Het
Or5ar1	A	G	2: 85,671,725 (GRCm39)	S137P	probably damaging	Het
Pik3r6	T	A	11: 68,424,347 (GRCm39)	D317E	possibly damaging	Het
Ppp2r1a	G	A	17: 21,171,609 (GRCm39)	R28H	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpn12	G	A	5: 21,197,741 (GRCm39)	P700L	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Smarca2	G	A	19: 26,661,327 (GRCm39)		probably null	Het
Taok1	A	T	11: 77,450,659 (GRCm39)	L371H	possibly damaging	Het
Tas2r116	A	G	6: 132,833,230 (GRCm39)	H277R	probably damaging	Het
Treml4	G	A	17: 48,571,837 (GRCm39)	R80Q	probably benign	Het
Trim9	G	A	12: 70,393,126 (GRCm39)	H273Y	probably damaging	Het
Tyr	A	G	7: 87,087,148 (GRCm39)	S455P	probably benign	Het
Vmn1r214	G	A	13: 23,219,520 (GRCm39)	C338Y	probably benign	Het
Vmn2r52	G	A	7: 9,904,603 (GRCm39)	T412I	probably benign	Het
Wdr70	A	T	15: 8,108,698 (GRCm39)	C149*	probably null	Het
Wdr93	T	A	7: 79,418,159 (GRCm39)	V294E	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCTCACAAGGAAGCTGGC -3'
(R):5'- TCAGCAAAGTCTAGCCAGATC -3'

Sequencing Primer
(F):5'- CAAGGAAGCTGGCAGCCAC -3'
(R):5'- GCCAGATCAAAGAGGTATTCATCGTC -3'

Posted On

2015-04-29