Mutagenetix > Incidental Mutation

Incidental Mutation 'R1713:Slc39a13'

190739

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

039746-MU

Accession Numbers

Essential gene?

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

Stock #

R1713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90892136-90900754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90893442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 326 (V326A)

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: V326A

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

SMART Domains

Protein: ENSMUSP00000073263
Gene: ENSMUSG00000002105
AA Change: V326A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000079976
AA Change: V125A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078892
Gene: ENSMUSG00000002105
AA Change: V125A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111436
AA Change: V339A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107063
Gene: ENSMUSG00000002105
AA Change: V339A

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: ENSMUST00000150348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149430

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

0.8076

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (96/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,127,964 (GRCm39)	I54F	possibly damaging	Het
Ackr1	A	T	1: 173,159,916 (GRCm39)	H134Q	probably benign	Het
Agtr1b	A	T	3: 20,370,473 (GRCm39)	F44L	probably benign	Het
Ahnak	G	A	19: 8,989,173 (GRCm39)	D3486N	possibly damaging	Het
Akap9	T	C	5: 4,089,345 (GRCm39)		probably null	Het
Anks6	T	A	4: 47,039,726 (GRCm39)	Q495L	probably benign	Het
Arpp21	A	G	9: 111,896,237 (GRCm39)	S684P	probably damaging	Het
Ash1l	A	G	3: 88,983,531 (GRCm39)	E2911G	probably damaging	Het
Avpi1	C	T	19: 42,113,248 (GRCm39)	E70K	probably damaging	Het
Btbd17	G	T	11: 114,686,650 (GRCm39)	P9T	probably benign	Het
C4b	A	G	17: 34,948,245 (GRCm39)		probably benign	Het
Carm1	T	C	9: 21,497,785 (GRCm39)	V385A	probably damaging	Het
Casd1	A	G	6: 4,624,104 (GRCm39)	D299G	probably damaging	Het
Clca3a1	T	A	3: 144,730,307 (GRCm39)	K179N	probably benign	Het
Col1a2	T	C	6: 4,538,691 (GRCm39)	S1204P	unknown	Het
Col24a1	C	T	3: 145,072,624 (GRCm39)	Q780*	probably null	Het
Cxadr	C	A	16: 78,131,133 (GRCm39)	N216K	probably damaging	Het
Daam1	C	T	12: 71,942,656 (GRCm39)	T40I	unknown	Het
Dab2	C	T	15: 6,459,182 (GRCm39)	P365S	possibly damaging	Het
Dnah1	A	T	14: 31,001,139 (GRCm39)	I2402N	probably damaging	Het
Dscaml1	T	A	9: 45,663,988 (GRCm39)	S1954R	possibly damaging	Het
Dync2h1	T	C	9: 7,131,891 (GRCm39)	T1639A	probably benign	Het
Ebf1	A	T	11: 44,815,393 (GRCm39)	I336F	probably damaging	Het
Ebna1bp2	A	G	4: 118,482,881 (GRCm39)	N290S	possibly damaging	Het
Gabra2	A	G	5: 71,171,906 (GRCm39)	I110T	probably benign	Het
Galk2	A	G	2: 125,773,210 (GRCm39)	N203S	probably benign	Het
Gria4	T	C	9: 4,424,448 (GRCm39)	T806A	probably benign	Het
Impg2	A	G	16: 56,080,889 (GRCm39)	T789A	probably benign	Het
Itga6	A	G	2: 71,617,546 (GRCm39)	T22A	probably benign	Het
Itgb4	T	A	11: 115,894,315 (GRCm39)	I1312N	probably damaging	Het
Kdm4c	A	G	4: 74,216,721 (GRCm39)	D160G	probably benign	Het
Kdr	A	G	5: 76,129,127 (GRCm39)	V173A	probably benign	Het
Kif14	T	C	1: 136,455,202 (GRCm39)	S1575P	probably benign	Het
Lcp1	G	A	14: 75,436,884 (GRCm39)		probably null	Het
Lipe	C	A	7: 25,084,750 (GRCm39)	S516I	probably damaging	Het
Lrrc61	G	A	6: 48,545,708 (GRCm39)	R177Q	possibly damaging	Het
Macf1	A	G	4: 123,272,487 (GRCm39)	I6429T	probably damaging	Het
Map3k4	C	T	17: 12,468,458 (GRCm39)	E1012K	probably benign	Het
Map3k5	T	C	10: 19,986,593 (GRCm39)	F936L	possibly damaging	Het
Mllt3	A	T	4: 87,701,901 (GRCm39)	N497K	probably damaging	Het
Moxd1	G	A	10: 24,157,394 (GRCm39)	G342D	probably damaging	Het
Mtdh	A	C	15: 34,114,985 (GRCm39)	Q202H	possibly damaging	Het
Nav1	A	G	1: 135,522,972 (GRCm39)		probably benign	Het
Nop56	T	C	2: 130,119,886 (GRCm39)	V109A	possibly damaging	Het
Obscn	T	C	11: 58,970,712 (GRCm39)	D2540G	probably damaging	Het
Omg	T	C	11: 79,393,679 (GRCm39)	I60V	probably benign	Het
Or10q12	A	T	19: 13,746,659 (GRCm39)	T318S	probably benign	Het
Or12e9	A	T	2: 87,202,290 (GRCm39)	Y138F	probably damaging	Het
Osbpl5	G	A	7: 143,248,110 (GRCm39)	H652Y	probably damaging	Het
Parvb	T	C	15: 84,182,192 (GRCm39)		probably benign	Het
Pcdhb3	A	C	18: 37,436,375 (GRCm39)	E780D	probably benign	Het
Pik3c3	A	G	18: 30,456,639 (GRCm39)	D723G	possibly damaging	Het
Prkdc	T	C	16: 15,612,958 (GRCm39)	V3172A	probably benign	Het
Psme4	G	T	11: 30,756,310 (GRCm39)	W272L	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rhobtb1	A	C	10: 69,108,601 (GRCm39)	S434R	probably benign	Het
Rhobtb1	G	C	10: 69,108,602 (GRCm39)	S434T	possibly damaging	Het
Rnf8	T	C	17: 29,853,735 (GRCm39)	F413S	probably damaging	Het
Rpn2	A	G	2: 157,156,888 (GRCm39)	N497S	probably damaging	Het
Rsbn1l	G	T	5: 21,156,488 (GRCm39)	P99Q	probably benign	Het
Serpinb3b	A	T	1: 107,083,164 (GRCm39)	M246K	probably benign	Het
Sgsm2	T	C	11: 74,787,652 (GRCm39)	E19G	probably null	Het
Shank1	A	G	7: 43,969,161 (GRCm39)	H352R	unknown	Het
Slc17a7	A	G	7: 44,819,728 (GRCm39)	I177V	probably benign	Het
Slc28a2	T	A	2: 122,281,494 (GRCm39)	F228I	probably damaging	Het
Slc35b4	C	T	6: 34,147,484 (GRCm39)	V35I	probably benign	Het
Slc38a1	T	C	15: 96,476,641 (GRCm39)	I407V	probably damaging	Het
Slc44a5	T	C	3: 153,944,743 (GRCm39)	L120P	probably damaging	Het
Slfn3	T	C	11: 83,104,140 (GRCm39)	I214T	probably damaging	Het
Slitrk3	A	C	3: 72,957,024 (GRCm39)	S583A	probably benign	Het
Snx14	T	C	9: 88,297,728 (GRCm39)	Y180C	probably damaging	Het
Sorl1	T	A	9: 41,907,538 (GRCm39)	K1483I	probably benign	Het
Ssrp1	C	A	2: 84,871,104 (GRCm39)	H247N	probably damaging	Het
Stk39	A	T	2: 68,137,460 (GRCm39)		probably benign	Het
Syde1	C	T	10: 78,421,530 (GRCm39)	G674R	probably damaging	Het
Tent4a	A	T	13: 69,651,170 (GRCm39)	I565N	probably benign	Het
Themis3	G	A	17: 66,862,848 (GRCm39)	S370L	probably benign	Het
Tll1	T	A	8: 64,554,907 (GRCm39)	N259Y	probably damaging	Het
Tnip2	T	G	5: 34,661,175 (GRCm39)		probably benign	Het
Top2b	T	C	14: 16,409,823 (GRCm38)	V830A	probably benign	Het
Trpm8	T	A	1: 88,292,802 (GRCm39)	N934K	probably damaging	Het
Ttc14	A	G	3: 33,857,069 (GRCm39)	Y179C	probably damaging	Het
Ttn	T	G	2: 76,573,965 (GRCm39)	I17316L	possibly damaging	Het
Tufm	T	C	7: 126,086,871 (GRCm39)	V52A	probably benign	Het
Vamp8	T	A	6: 72,365,270 (GRCm39)	N20I	probably benign	Het
Vmn1r170	A	T	7: 23,306,288 (GRCm39)	H230L	probably benign	Het
Vmn2r50	T	G	7: 9,771,731 (GRCm39)	T657P	probably damaging	Het
Xirp2	G	A	2: 67,342,762 (GRCm39)	G1668R	probably benign	Het
Zik1	C	A	7: 10,224,311 (GRCm39)	R262L	possibly damaging	Het
Zscan25	T	G	5: 145,220,501 (GRCm39)	Y99D	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CCTCTCACACTTGGTCACAGAACAG -3'
(R):5'- AAAAGGCTCCTTTGCCCTGCTG -3'

Sequencing Primer
(F):5'- ACAGACTGGAGTCTCATTGC -3'
(R):5'- TGCCCTGCTGCTATTGG -3'

Posted On

2014-05-14