Mutagenetix > Incidental Mutation

Incidental Mutation 'RF040:Slc39a4'

604783

Institutional Source

Beutler Lab

Gene Symbol

Slc39a4

Ensembl Gene

ENSMUSG00000063354

Gene Name

solute carrier family 39 (zinc transporter), member 4

Synonyms

AWMS2, 1600025H15Rik, zip4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF040 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

76496583-76501579 bp(-) (GRCm39)

Type of Mutation

small insertion (12 aa in frame mutation)

DNA Base Change (assembly)

TGTGGTC to TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC at 76499066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073428] [ENSMUST00000230977]

AlphaFold

Q78IQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000073428

SMART Domains

Protein: ENSMUSP00000073134
Gene: ENSMUSG00000063354

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
low complexity region	238	253	N/A	INTRINSIC
Pfam:Zip	335	652	3.5e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000230977

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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 zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic letahlity around E10. Mice heterozygous for a null allele exhibit developmental defects similar to the teratology of zinc deficiency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGCTGTG	TGCTGTGACAGCTGTG	1: 82,891,298 (GRCm39)		probably benign	Het
A030005L19Rik	G	GTGGCTGCTC	1: 82,891,311 (GRCm39)		probably benign	Het
Brme1	TG	TGTCAGGGCAGCAGCAG	8: 84,894,204 (GRCm39)		probably benign	Het
Cacna1f	CTGAATTGGTTCCCAGACCCGTGT	CT	X: 7,485,210 (GRCm39)		probably null	Het
Calhm1	C	CTGTGGCTGTGGA	19: 47,129,716 (GRCm39)		probably benign	Het
Cdx1	CTGCTG	CTGCTGATGCTG	18: 61,152,942 (GRCm39)		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,462 (GRCm39)		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,750 (GRCm39)		probably null	Het
Dnajc2	TAGTTG	T	5: 21,962,695 (GRCm39)		probably null	Het
Fgd6	ATT	A	10: 93,880,187 (GRCm39)		probably null	Het
Flywch1	CTCCTGGTGT	CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT	17: 23,981,143 (GRCm39)		probably null	Het
Gab3	CTT	CTTTTT	X: 74,043,633 (GRCm39)		probably benign	Het
Garin5a	C	CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA	7: 44,149,945 (GRCm39)		probably null	Het
Garin5a	GGGAGGA	GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA	7: 44,149,955 (GRCm39)		probably null	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Heatr3	TAT	TATTGAT	8: 88,883,085 (GRCm39)		probably benign	Het
Kmt2e	TTT	TTTTCTT	5: 23,683,507 (GRCm39)		probably benign	Het
Luzp1	A	AGGTGGCCTCTTCAGC	4: 136,270,507 (GRCm39)		probably benign	Het
Mamld1	AACA	AACAACA	X: 70,162,420 (GRCm39)		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,875,749 (GRCm39)		probably benign	Het
Med12l	AGC	AGCCGC	3: 59,183,388 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,410 (GRCm39)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,567,571 (GRCm39)		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)		probably null	Het
Ncoa6	TGCAGC	TGC	2: 155,263,651 (GRCm39)		probably benign	Het
Nlrp3	GGGTA	G	11: 59,449,378 (GRCm39)		probably null	Het
Nolc1	AGCAGCAGC	AGCAGCAGCCGCAGCAGC	19: 46,069,802 (GRCm39)		probably benign	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,068 (GRCm39)		probably benign	Het
Or10j2	GTGACATC	G	1: 173,098,276 (GRCm39)		probably null	Het
Or52z15	ACTTGCTGATATCTT	ACTT	7: 103,332,145 (GRCm39)		probably null	Het
Osmr	TTCT	TTCTTCT	15: 6,867,182 (GRCm39)		probably benign	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Het
Pdik1l	AC	ACCACCGC	4: 134,006,826 (GRCm39)		probably benign	Het
Rpgrip1	AGGAAGAGG	AG	14: 52,386,994 (GRCm39)		probably null	Het
Rragd	CATGCCTTTCATTCTA	C	4: 32,995,150 (GRCm39)		probably benign	Het
Ryr3	CTGA	C	2: 112,740,869 (GRCm39)		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,373,055 (GRCm39)		probably benign	Het
Smarca2	GC	GCCCCACC	19: 26,608,422 (GRCm39)		probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sprr2b	CAGTATGCTGTGAGCCTTGTCCTCCT	C	3: 92,224,871 (GRCm39)		probably null	Het
Sry	GCTG	GCTGGTGGTGGTGGTCATGGAACTG	Y: 2,662,590 (GRCm39)		probably benign	Het
Tcof1	CT	CTATT	18: 60,961,480 (GRCm39)		probably benign	Het
Tcof1	GC	GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC	18: 60,966,655 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,037 (GRCm39)		probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,022 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGGAG	17: 48,097,035 (GRCm39)		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGTCTTGCCAGAAG	6: 72,593,057 (GRCm39)		probably benign	Het
Tmem59	TTTGTTT	TTTGTTTGGTTGTTT	4: 107,047,723 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	15: 72,673,141 (GRCm39)		probably benign	Het
Triobp	CAA	CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA	15: 78,851,263 (GRCm39)		probably benign	Het
Xirp2	TT	TTTAT	2: 67,355,888 (GRCm39)		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGGAGCA	8: 109,682,733 (GRCm39)		probably benign	Het

Other mutations in Slc39a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02558:Slc39a4	APN	15	76,498,403 (GRCm39)	missense	probably damaging	1.00
IGL02597:Slc39a4	APN	15	76,497,824 (GRCm39)	missense	probably benign
IGL02798:Slc39a4	APN	15	76,499,382 (GRCm39)	missense	probably benign	0.04
texline	UTSW	15	76,498,283 (GRCm39)	missense	probably damaging	1.00
R0519:Slc39a4	UTSW	15	76,499,338 (GRCm39)	missense	probably benign	0.38
R0815:Slc39a4	UTSW	15	76,496,839 (GRCm39)	missense	probably damaging	1.00
R1502:Slc39a4	UTSW	15	76,500,793 (GRCm39)	missense	probably benign	0.00
R1547:Slc39a4	UTSW	15	76,498,347 (GRCm39)	nonsense	probably null
R2919:Slc39a4	UTSW	15	76,500,870 (GRCm39)	missense	probably damaging	1.00
R4634:Slc39a4	UTSW	15	76,498,693 (GRCm39)	missense	probably benign
R5029:Slc39a4	UTSW	15	76,498,283 (GRCm39)	missense	probably damaging	1.00
R5030:Slc39a4	UTSW	15	76,498,283 (GRCm39)	missense	probably damaging	1.00
R5669:Slc39a4	UTSW	15	76,498,363 (GRCm39)	missense	probably damaging	1.00
R6020:Slc39a4	UTSW	15	76,500,342 (GRCm39)	missense	probably benign	0.03
R6741:Slc39a4	UTSW	15	76,498,283 (GRCm39)	missense	probably damaging	1.00
R6920:Slc39a4	UTSW	15	76,497,470 (GRCm39)	missense	probably damaging	0.99
R7072:Slc39a4	UTSW	15	76,497,458 (GRCm39)	missense	probably damaging	1.00
R7920:Slc39a4	UTSW	15	76,498,285 (GRCm39)	missense	probably damaging	1.00
R9217:Slc39a4	UTSW	15	76,498,126 (GRCm39)	missense	possibly damaging	0.60
R9300:Slc39a4	UTSW	15	76,498,759 (GRCm39)	missense	probably damaging	1.00
R9619:Slc39a4	UTSW	15	76,497,874 (GRCm39)	missense	probably damaging	1.00
R9720:Slc39a4	UTSW	15	76,500,930 (GRCm39)	missense	probably benign	0.00
R9722:Slc39a4	UTSW	15	76,500,211 (GRCm39)	missense	possibly damaging	0.85
RF035:Slc39a4	UTSW	15	76,499,066 (GRCm39)	small insertion	probably benign
RF039:Slc39a4	UTSW	15	76,499,071 (GRCm39)	small insertion	probably benign
RF039:Slc39a4	UTSW	15	76,499,070 (GRCm39)	small insertion	probably benign
RF041:Slc39a4	UTSW	15	76,499,066 (GRCm39)	small insertion	probably benign
RF042:Slc39a4	UTSW	15	76,499,071 (GRCm39)	small insertion	probably benign
RF043:Slc39a4	UTSW	15	76,499,070 (GRCm39)	small insertion	probably benign
RF044:Slc39a4	UTSW	15	76,499,070 (GRCm39)	small insertion	probably benign
Z1176:Slc39a4	UTSW	15	76,498,373 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAACAGACCCATGGAAGGTTG -3'
(R):5'- GGACTTTGTGTTCAGGCTACAC -3'

Sequencing Primer
(F):5'- GTCTTCTTTCTCCAGAATGGCATGAG -3'
(R):5'- CAATATCACGCTGCATGGTG -3'

Posted On

2019-12-04